Background Syringomyelia refers to a cystic-like change (syrinx) within the spinal cord. It can have many different causes such as spinal cord trauma, spinal cord tumours, scoliosis, spinal cord tethering and Chiari malformation, or it may have no identifiable cause. Hydrocephalus can be an associated condition and treatment of it and some of the other associated problems above may resolve the syringomyelia. Credits Medical text written December 2002 by Mr N Buxton. Last updated June 2007 by Mr N Buxton, Consultant Paediatric Neurosurgeon, Alder Hey Children’s Hospital, Liverpool, UK. What are the symptoms? The cyst-like change within the spinal cord can extend over a variable length and the symptoms it can cause reflects the level of the change within the spinal cord. Sometimes they can actually be asymptomatic. However, often they can affect sensory perception and ultimately can cause deranged motor function. As the syrinx is usually secondary to another condition, the patient most commonly presents with the symptoms attributable to that condition. Therefore in cases of syringomyelia secondary to another condition, the treatment is not aimed at the syrinx but at the cause. Chiari malformationOriginally referred to as Arnold Chiari malformation it is also known as hindbrain hernia. In essence it is herniation (protrusion) of the bottom of the cerebellum, an area at the back and base of the brain, through the foramen magnum (the hole in the bottom of the skull for the spinal cord to exit). There are two basic types that are most commonly seen. Type one has no other associated cause and type two is associated with spina bifida. The treatment of type two may involve treatment of the spina bifida. Both types can cause syringomyelia. The treatment can cause resolution of the problem. Idiopathic, or type one Chiari malformation, can present with headaches particularly at the back of the head, made worse by coughing, sneezing, straining. There may also be dizziness, disturbance of vision and abnormal sensations in the arms and legs. Treatment is usually surgical, but not in every case. Specialists will consider various approaches. Hydrocephalus may be associated and its treatment may resolve the Chiari malformation. How is it treated? The treatment of syringomyelia with no identifiable cause can be controversial as in many cases no treatment may be required and periodical follow-up with neurological examination and scanning may be necessary. Inheritance patterns and prenatal diagnosis Inheritance patternsIn general, none. However, some conditions causing syringomyelia may be genetic. Prenatal diagnosis Where another condition is the cause, ultrasound scanning may be used in diagnosis. Is there support? Ann Conroy Trust Tel: 0300 111 0004Email: info@annconroytrust.orgWebsite: annconroytrust.org The Trust is a Registered Charity in England and Wales No. 510582. It provides information and support to those living wih Chiari Malformation, Syringomyelia and associated conditions. Group details last updated September 2014.
What are the symptoms? The cyst-like change within the spinal cord can extend over a variable length and the symptoms it can cause reflects the level of the change within the spinal cord. Sometimes they can actually be asymptomatic. However, often they can affect sensory perception and ultimately can cause deranged motor function. As the syrinx is usually secondary to another condition, the patient most commonly presents with the symptoms attributable to that condition. Therefore in cases of syringomyelia secondary to another condition, the treatment is not aimed at the syrinx but at the cause. Chiari malformationOriginally referred to as Arnold Chiari malformation it is also known as hindbrain hernia. In essence it is herniation (protrusion) of the bottom of the cerebellum, an area at the back and base of the brain, through the foramen magnum (the hole in the bottom of the skull for the spinal cord to exit). There are two basic types that are most commonly seen. Type one has no other associated cause and type two is associated with spina bifida. The treatment of type two may involve treatment of the spina bifida. Both types can cause syringomyelia. The treatment can cause resolution of the problem. Idiopathic, or type one Chiari malformation, can present with headaches particularly at the back of the head, made worse by coughing, sneezing, straining. There may also be dizziness, disturbance of vision and abnormal sensations in the arms and legs. Treatment is usually surgical, but not in every case. Specialists will consider various approaches. Hydrocephalus may be associated and its treatment may resolve the Chiari malformation. How is it treated? The treatment of syringomyelia with no identifiable cause can be controversial as in many cases no treatment may be required and periodical follow-up with neurological examination and scanning may be necessary. Inheritance patterns and prenatal diagnosis Inheritance patternsIn general, none. However, some conditions causing syringomyelia may be genetic. Prenatal diagnosis Where another condition is the cause, ultrasound scanning may be used in diagnosis. Is there support? Ann Conroy Trust Tel: 0300 111 0004Email: info@annconroytrust.orgWebsite: annconroytrust.org The Trust is a Registered Charity in England and Wales No. 510582. It provides information and support to those living wih Chiari Malformation, Syringomyelia and associated conditions. Group details last updated September 2014.
What are the symptoms? The cyst-like change within the spinal cord can extend over a variable length and the symptoms it can cause reflects the level of the change within the spinal cord. Sometimes they can actually be asymptomatic. However, often they can affect sensory perception and ultimately can cause deranged motor function. As the syrinx is usually secondary to another condition, the patient most commonly presents with the symptoms attributable to that condition. Therefore in cases of syringomyelia secondary to another condition, the treatment is not aimed at the syrinx but at the cause. Chiari malformationOriginally referred to as Arnold Chiari malformation it is also known as hindbrain hernia. In essence it is herniation (protrusion) of the bottom of the cerebellum, an area at the back and base of the brain, through the foramen magnum (the hole in the bottom of the skull for the spinal cord to exit). There are two basic types that are most commonly seen. Type one has no other associated cause and type two is associated with spina bifida. The treatment of type two may involve treatment of the spina bifida. Both types can cause syringomyelia. The treatment can cause resolution of the problem. Idiopathic, or type one Chiari malformation, can present with headaches particularly at the back of the head, made worse by coughing, sneezing, straining. There may also be dizziness, disturbance of vision and abnormal sensations in the arms and legs. Treatment is usually surgical, but not in every case. Specialists will consider various approaches. Hydrocephalus may be associated and its treatment may resolve the Chiari malformation.
How is it treated? The treatment of syringomyelia with no identifiable cause can be controversial as in many cases no treatment may be required and periodical follow-up with neurological examination and scanning may be necessary.
Inheritance patterns and prenatal diagnosis Inheritance patternsIn general, none. However, some conditions causing syringomyelia may be genetic. Prenatal diagnosis Where another condition is the cause, ultrasound scanning may be used in diagnosis.
Is there support? Ann Conroy Trust Tel: 0300 111 0004Email: info@annconroytrust.orgWebsite: annconroytrust.org The Trust is a Registered Charity in England and Wales No. 510582. It provides information and support to those living wih Chiari Malformation, Syringomyelia and associated conditions. Group details last updated September 2014.
Also known as: St Vitus’ Dance; Chorea Minor Background Sydenham’s Chorea is a disease affecting the brain, particularly causing unusual movements, unsteadiness and poor coordination. It can turn a healthy child into someone unable to speak, walk or feed themselves. It happens after a common bacterial childhood infection, usually a sore throat, called Streptococcus pyogenes (also called Group A streptococcus). The body’s own immune system attacks the infection but also parts of the child’s brain which have a role in controlling movement and emotional responses. In most cases the child makes a full recovery, although it can take several months. Credits Medical text written November 2021 by Sydenham’s Chorea Association, UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms Sydenham’s Chorea can present in a number of ways. Often the child’s behaviour changes before the onset of the abnormal movements. The movement disorder comes on over a period of hours to days with uncoordinated jerking movements in the arms, hands, legs, feet and face. These movements are called chorea. Sometimes the chorea only involves one side of the body. Further neurological symptoms of Sydenham’s Chorea can be changes in mood and behaviour, fatigue, loss of fine and gross motor skills, loss of muscle tone, motor and speech difficulties, gait disturbance, facial grimacing, headache, slowed thinking and restlessness. Some children with Sydenham’s Chorea go on to develop a different kind of movement problem with motor and/or vocal tics and habits. Other physical symptoms may include inflammation of the heart and joint pain. This usually indicates that the underlying problem is rheumatic fever, although you can have Sydenham’s chorea without rheumatic fever too. What are the causes It happens after a common bacterial childhood infection, usually a sore throat, called Streptococcus pyogenes (also called Group A streptococcus). In certain individuals, for reasons which are unclear, their own immune system attacks not only the infection, but parts of the child’s own brain which have a role in controlling movement and emotional responses. Sydenham’s Chorea usually develops a couple of weeks (but up to six months) after a child has suffered a Streptococcal infection. You may not even remember or realize that your child had a Streptococcal infection. How is it diagnosed The diagnosis of Sydenham’s Chorea may be made as a result of a review of the child’s symptoms and a physical examination by a doctor, ideally one who has seen it before. There is no definite test for Sydenham’s Chorea, but blood tests and scans may be important to rule out other conditions that might be suspected in some cases. Sometimes a lumbar puncture is done. The diagnosis may be supported by a blood sample or throat swab looking for signs of Streptococcal infection. How is it treated Treatment for Sydenham’s Chorea is based on the following steps: Most doctors will try to remove any Streptococcal infection from the child using a treatment course of Penicillin. In most cases, preventive, long term penicillin (or an alternative antibiotic, if you are allergic) is then recommended. Your doctor may offer medicines to treat the chorea if it is having a major impact on the child’s day to day functioning. Doctors often use an epilepsy medicine called Sodium Valproate.Your doctor may offer immune treatment. There is certainly good evidence that steroid treatment and intravenous immunoglobulin (IVIG) treatment helps. But there isn’t enough information from research yet to know about which children will benefit most from these treatments, which is better, or possible longer term benefits or harms.Occupational therapy, physiotherapy and sometimes speech and language therapy is important. Inheritance patterns and prenatal diagnosis Inheritance patterns Not applicable Prenatal diagnosis Not applicable Is there support? Sydenham’s Chorea Association Email: info@sydenhamschorea.org.ukWebsite: sydenhamschorea.org.uk The Association are a Registered Charity in Scotland no. SCO047005. They are a small group of parents of children affected by Sydenham’s chorea, and professionals previously or currently involved in the care of affected children. This is a rare condition that many health care professionals have little awareness of, so many families have a frustrating experience of delayed diagnosis and lack of support. They offer direct one to one family support but also seek to increase awareness and understanding of the condition, which in some cases causes problems through into adult life. As far as they are aware, they are the only support group for Sydenham’s chorea in the world. They have a website as well as a Facebook page. They organise fund raising and educational events. Group details added August 2021.
What are the symptoms Sydenham’s Chorea can present in a number of ways. Often the child’s behaviour changes before the onset of the abnormal movements. The movement disorder comes on over a period of hours to days with uncoordinated jerking movements in the arms, hands, legs, feet and face. These movements are called chorea. Sometimes the chorea only involves one side of the body. Further neurological symptoms of Sydenham’s Chorea can be changes in mood and behaviour, fatigue, loss of fine and gross motor skills, loss of muscle tone, motor and speech difficulties, gait disturbance, facial grimacing, headache, slowed thinking and restlessness. Some children with Sydenham’s Chorea go on to develop a different kind of movement problem with motor and/or vocal tics and habits. Other physical symptoms may include inflammation of the heart and joint pain. This usually indicates that the underlying problem is rheumatic fever, although you can have Sydenham’s chorea without rheumatic fever too. What are the causes It happens after a common bacterial childhood infection, usually a sore throat, called Streptococcus pyogenes (also called Group A streptococcus). In certain individuals, for reasons which are unclear, their own immune system attacks not only the infection, but parts of the child’s own brain which have a role in controlling movement and emotional responses. Sydenham’s Chorea usually develops a couple of weeks (but up to six months) after a child has suffered a Streptococcal infection. You may not even remember or realize that your child had a Streptococcal infection. How is it diagnosed The diagnosis of Sydenham’s Chorea may be made as a result of a review of the child’s symptoms and a physical examination by a doctor, ideally one who has seen it before. There is no definite test for Sydenham’s Chorea, but blood tests and scans may be important to rule out other conditions that might be suspected in some cases. Sometimes a lumbar puncture is done. The diagnosis may be supported by a blood sample or throat swab looking for signs of Streptococcal infection. How is it treated Treatment for Sydenham’s Chorea is based on the following steps: Most doctors will try to remove any Streptococcal infection from the child using a treatment course of Penicillin. In most cases, preventive, long term penicillin (or an alternative antibiotic, if you are allergic) is then recommended. Your doctor may offer medicines to treat the chorea if it is having a major impact on the child’s day to day functioning. Doctors often use an epilepsy medicine called Sodium Valproate.Your doctor may offer immune treatment. There is certainly good evidence that steroid treatment and intravenous immunoglobulin (IVIG) treatment helps. But there isn’t enough information from research yet to know about which children will benefit most from these treatments, which is better, or possible longer term benefits or harms.Occupational therapy, physiotherapy and sometimes speech and language therapy is important. Inheritance patterns and prenatal diagnosis Inheritance patterns Not applicable Prenatal diagnosis Not applicable Is there support? Sydenham’s Chorea Association Email: info@sydenhamschorea.org.ukWebsite: sydenhamschorea.org.uk The Association are a Registered Charity in Scotland no. SCO047005. They are a small group of parents of children affected by Sydenham’s chorea, and professionals previously or currently involved in the care of affected children. This is a rare condition that many health care professionals have little awareness of, so many families have a frustrating experience of delayed diagnosis and lack of support. They offer direct one to one family support but also seek to increase awareness and understanding of the condition, which in some cases causes problems through into adult life. As far as they are aware, they are the only support group for Sydenham’s chorea in the world. They have a website as well as a Facebook page. They organise fund raising and educational events. Group details added August 2021.
What are the symptoms Sydenham’s Chorea can present in a number of ways. Often the child’s behaviour changes before the onset of the abnormal movements. The movement disorder comes on over a period of hours to days with uncoordinated jerking movements in the arms, hands, legs, feet and face. These movements are called chorea. Sometimes the chorea only involves one side of the body. Further neurological symptoms of Sydenham’s Chorea can be changes in mood and behaviour, fatigue, loss of fine and gross motor skills, loss of muscle tone, motor and speech difficulties, gait disturbance, facial grimacing, headache, slowed thinking and restlessness. Some children with Sydenham’s Chorea go on to develop a different kind of movement problem with motor and/or vocal tics and habits. Other physical symptoms may include inflammation of the heart and joint pain. This usually indicates that the underlying problem is rheumatic fever, although you can have Sydenham’s chorea without rheumatic fever too.
What are the causes It happens after a common bacterial childhood infection, usually a sore throat, called Streptococcus pyogenes (also called Group A streptococcus). In certain individuals, for reasons which are unclear, their own immune system attacks not only the infection, but parts of the child’s own brain which have a role in controlling movement and emotional responses. Sydenham’s Chorea usually develops a couple of weeks (but up to six months) after a child has suffered a Streptococcal infection. You may not even remember or realize that your child had a Streptococcal infection.
How is it diagnosed The diagnosis of Sydenham’s Chorea may be made as a result of a review of the child’s symptoms and a physical examination by a doctor, ideally one who has seen it before. There is no definite test for Sydenham’s Chorea, but blood tests and scans may be important to rule out other conditions that might be suspected in some cases. Sometimes a lumbar puncture is done. The diagnosis may be supported by a blood sample or throat swab looking for signs of Streptococcal infection.
How is it treated Treatment for Sydenham’s Chorea is based on the following steps: Most doctors will try to remove any Streptococcal infection from the child using a treatment course of Penicillin. In most cases, preventive, long term penicillin (or an alternative antibiotic, if you are allergic) is then recommended. Your doctor may offer medicines to treat the chorea if it is having a major impact on the child’s day to day functioning. Doctors often use an epilepsy medicine called Sodium Valproate.Your doctor may offer immune treatment. There is certainly good evidence that steroid treatment and intravenous immunoglobulin (IVIG) treatment helps. But there isn’t enough information from research yet to know about which children will benefit most from these treatments, which is better, or possible longer term benefits or harms.Occupational therapy, physiotherapy and sometimes speech and language therapy is important.
Inheritance patterns and prenatal diagnosis Inheritance patterns Not applicable Prenatal diagnosis Not applicable
Is there support? Sydenham’s Chorea Association Email: info@sydenhamschorea.org.ukWebsite: sydenhamschorea.org.uk The Association are a Registered Charity in Scotland no. SCO047005. They are a small group of parents of children affected by Sydenham’s chorea, and professionals previously or currently involved in the care of affected children. This is a rare condition that many health care professionals have little awareness of, so many families have a frustrating experience of delayed diagnosis and lack of support. They offer direct one to one family support but also seek to increase awareness and understanding of the condition, which in some cases causes problems through into adult life. As far as they are aware, they are the only support group for Sydenham’s chorea in the world. They have a website as well as a Facebook page. They organise fund raising and educational events. Group details added August 2021.
Background Subacute-sclerosing panencephalitis (SSPE) is a persistent infection of the brain with measles virus, occurring in children and young adults. It is a type of viral encephalitis meaning the brain becomes irritated and swollen. It usually occurs a long time after measles infection, developing between 6 to 12 years after the initial infection with the virus. Cases can also follow immunisation with measles vaccine but this is much less common than after natural measles. The incidence of SSPE following natural measles infection is approximately 4 to 11 cases per 100,000 people. The incidence after measles immunisation is less than 1 case per 1,000,000. Credits Last updated September 2020 by Dr A Riordan, Consultant Paediatrician, Alder Hey Children’s Hospital, Liverpool, UK. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? The onset of the illness is subtle. The first signs are behavioural disturbances or a decline in school performance. Progression of the illness will vary from child to child, but evidence that this is a more serious illness usually begins with loss of motor control (ability to move around) and coordination. This often starts with characteristic jerking movements, which may at first appear as clumsiness. These jerking movements are known as myoclonic seizures. Tonic clonic seizures (falling to the floor and limbs jerking) may also occur. As the condition worsens, problems with swallowing, speech and vision may occur. SSPE can be life-threatening. Sadly the majority of children die within 5 to 10 years after the onset of symptoms. Children who survive may do so with considerable intellectual and physical impairment. What are the causes? The exact causes of SSPE are not known. Most children who develop SSPE are known to have had an attack of measles, usually many years before. The risk of developing SSPE is greater if children have measles when aged less than one year old or if they are immune suppressed. How is it diagnosed? Blood tests and a lumbar puncture will be carried out if SSPE is suspected, and MRI scans may show changes to the brain. An electroencephalogram (EEG) may show characteristic periodic activity (Rademecker complex). How is it treated? There is no cure for SSPE, antiviral drugs and drugs that boost the immune system may slow the progression of the disease. Treatment with Inosiplex (isoprinosine) may be of benefit in slowly progressive cases. Occasionally, more aggressive treatments may be used, including antivirals (ribavirin) and immune modulating drugs (interferons). These can be injected into the fluid around the brain (intrathecal therapy), which may help to reduce the inflammation. These treatments have rarely been shown to recover loss of function and have side effects, but they may stabilize the disease for several years.. It is possible that with further research new drugs that might reduce or ‘dampen down’ the brain’s response to the re-activation of the measles virus may eventually be found. Medication to control seizures and reduce muscle stiffness can improve the child’s quality of life. Inheritance patterns and prenatal diagnosis Inheritance patternsNot applicable. Prenatal diagnosisNot applicable. Is there support? Information and support in the UK for subacute-sclerosing panencephalitis is provided by the Encephalitis Society (see entry Encephalitis).
What are the symptoms? The onset of the illness is subtle. The first signs are behavioural disturbances or a decline in school performance. Progression of the illness will vary from child to child, but evidence that this is a more serious illness usually begins with loss of motor control (ability to move around) and coordination. This often starts with characteristic jerking movements, which may at first appear as clumsiness. These jerking movements are known as myoclonic seizures. Tonic clonic seizures (falling to the floor and limbs jerking) may also occur. As the condition worsens, problems with swallowing, speech and vision may occur. SSPE can be life-threatening. Sadly the majority of children die within 5 to 10 years after the onset of symptoms. Children who survive may do so with considerable intellectual and physical impairment. What are the causes? The exact causes of SSPE are not known. Most children who develop SSPE are known to have had an attack of measles, usually many years before. The risk of developing SSPE is greater if children have measles when aged less than one year old or if they are immune suppressed. How is it diagnosed? Blood tests and a lumbar puncture will be carried out if SSPE is suspected, and MRI scans may show changes to the brain. An electroencephalogram (EEG) may show characteristic periodic activity (Rademecker complex). How is it treated? There is no cure for SSPE, antiviral drugs and drugs that boost the immune system may slow the progression of the disease. Treatment with Inosiplex (isoprinosine) may be of benefit in slowly progressive cases. Occasionally, more aggressive treatments may be used, including antivirals (ribavirin) and immune modulating drugs (interferons). These can be injected into the fluid around the brain (intrathecal therapy), which may help to reduce the inflammation. These treatments have rarely been shown to recover loss of function and have side effects, but they may stabilize the disease for several years.. It is possible that with further research new drugs that might reduce or ‘dampen down’ the brain’s response to the re-activation of the measles virus may eventually be found. Medication to control seizures and reduce muscle stiffness can improve the child’s quality of life. Inheritance patterns and prenatal diagnosis Inheritance patternsNot applicable. Prenatal diagnosisNot applicable. Is there support? Information and support in the UK for subacute-sclerosing panencephalitis is provided by the Encephalitis Society (see entry Encephalitis).
What are the symptoms? The onset of the illness is subtle. The first signs are behavioural disturbances or a decline in school performance. Progression of the illness will vary from child to child, but evidence that this is a more serious illness usually begins with loss of motor control (ability to move around) and coordination. This often starts with characteristic jerking movements, which may at first appear as clumsiness. These jerking movements are known as myoclonic seizures. Tonic clonic seizures (falling to the floor and limbs jerking) may also occur. As the condition worsens, problems with swallowing, speech and vision may occur. SSPE can be life-threatening. Sadly the majority of children die within 5 to 10 years after the onset of symptoms. Children who survive may do so with considerable intellectual and physical impairment.
What are the causes? The exact causes of SSPE are not known. Most children who develop SSPE are known to have had an attack of measles, usually many years before. The risk of developing SSPE is greater if children have measles when aged less than one year old or if they are immune suppressed.
How is it diagnosed? Blood tests and a lumbar puncture will be carried out if SSPE is suspected, and MRI scans may show changes to the brain. An electroencephalogram (EEG) may show characteristic periodic activity (Rademecker complex).
How is it treated? There is no cure for SSPE, antiviral drugs and drugs that boost the immune system may slow the progression of the disease. Treatment with Inosiplex (isoprinosine) may be of benefit in slowly progressive cases. Occasionally, more aggressive treatments may be used, including antivirals (ribavirin) and immune modulating drugs (interferons). These can be injected into the fluid around the brain (intrathecal therapy), which may help to reduce the inflammation. These treatments have rarely been shown to recover loss of function and have side effects, but they may stabilize the disease for several years.. It is possible that with further research new drugs that might reduce or ‘dampen down’ the brain’s response to the re-activation of the measles virus may eventually be found. Medication to control seizures and reduce muscle stiffness can improve the child’s quality of life.
Inheritance patterns and prenatal diagnosis Inheritance patternsNot applicable. Prenatal diagnosisNot applicable.
Is there support? Information and support in the UK for subacute-sclerosing panencephalitis is provided by the Encephalitis Society (see entry Encephalitis).
Background Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, meaning it affects both the skin and central nervous system. SWS is characterised by an abnormality of the blood vessels on the surface of the brain, the skin of the face and the inner part of the eye. The abnormality of the blood vessels is due to the growth of benign (non cancerous) tumours, known as angiomas. Credits Medical text written August 2010 by Leena D Mewasingh, Consultant Paediatric Neurologist and Honorary Senior Clinical Lecturer, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, UK. What are the symptoms? The most common sign of the condition is the ‘port wine’ stain on the face, named because of its colour. However, in about 13 per cent of cases there is no port wine stain. Some of the neurological problems that children can suffer from include: headachehemiparesis (weakness down one side of the body)overgrowth of one side of the bodyseizures – these can sometimes be difficult to controlfrequent ‘stroke-like’ episodeseye abnormalities – including glaucoma and buphthalmos (enlargement and protrusion of the eye), which can occur because of the high pressure within the eyeball. In severe cases this can lead to blindnesslearning disability. Problems with learning and development are more common when angiomas are found on both sides of the brain (involving the right and left brain hemisphere). Symptoms in SWS can vary a lot. This is because the symptoms are often related to where the angiomas on the brain surface are found and how widespread they are. How is it diagnosed? A detailed clinical examination is the first step to diagnosing SWS. Brain scans – computed tomography (CT) or a magnetic resonance imaging (MRI) – are also performed. These provide more information than can be obtained clinically, including revealing whether both brain hemispheres are affected and if there is any cortical atrophy (shrinking of the surface of the brain). If the child suffers from seizures then an electroencephalogram (EEG) is also needed. Regular eye check ups by a specialist is also important. How is it treated? Management of SWS remains symptomatic, meaning that the symptoms of the condition are treated rather than the underlying cause and this will involve a number of specialists. Anticonvulsant medications are often used to control seizures. Where seizures are difficult to control, two or more anticonvulsant drugs may be used at once. Surgery is considered where anticonvulsant drugs cannot control the seizures; this is only carried out in highly specialised children’s centres. Laser therapy can be used to lighten the port wine stain or remove it. Medications are used to treat glaucoma, but if these fail to work, then eye surgery is considered. Physiotherapists and occupational therapists are often involved early on in the care of infants and children with weakness and/or learning disability. Input from an educational psychologist is often indicated for children with learning disability. Inheritance patterns and prenatal diagnosis Inheritance patternsSWS is not passed on from a parent to their child. It is thought to be something that occurs by chance in most cases. Prenatal diagnosis None at present, although with increasing use of antenatal fetal MRI scans this could evolve. Is there support? Sturge Weber UK Tel: 01422 820408Email: support@sturgeweber.org.ukWebsite: sturgeweber.org.uk Sturge Weber UK is a Registered Charity in England and Wales No. 1016688. It provides information and support for families and adults affected by Sturge Weber syndrome. The Organisation holds a family weekend every eighteen months when doctors and other professionals talk about relevant topics. Group details last updated June 2021
What are the symptoms? The most common sign of the condition is the ‘port wine’ stain on the face, named because of its colour. However, in about 13 per cent of cases there is no port wine stain. Some of the neurological problems that children can suffer from include: headachehemiparesis (weakness down one side of the body)overgrowth of one side of the bodyseizures – these can sometimes be difficult to controlfrequent ‘stroke-like’ episodeseye abnormalities – including glaucoma and buphthalmos (enlargement and protrusion of the eye), which can occur because of the high pressure within the eyeball. In severe cases this can lead to blindnesslearning disability. Problems with learning and development are more common when angiomas are found on both sides of the brain (involving the right and left brain hemisphere). Symptoms in SWS can vary a lot. This is because the symptoms are often related to where the angiomas on the brain surface are found and how widespread they are. How is it diagnosed? A detailed clinical examination is the first step to diagnosing SWS. Brain scans – computed tomography (CT) or a magnetic resonance imaging (MRI) – are also performed. These provide more information than can be obtained clinically, including revealing whether both brain hemispheres are affected and if there is any cortical atrophy (shrinking of the surface of the brain). If the child suffers from seizures then an electroencephalogram (EEG) is also needed. Regular eye check ups by a specialist is also important. How is it treated? Management of SWS remains symptomatic, meaning that the symptoms of the condition are treated rather than the underlying cause and this will involve a number of specialists. Anticonvulsant medications are often used to control seizures. Where seizures are difficult to control, two or more anticonvulsant drugs may be used at once. Surgery is considered where anticonvulsant drugs cannot control the seizures; this is only carried out in highly specialised children’s centres. Laser therapy can be used to lighten the port wine stain or remove it. Medications are used to treat glaucoma, but if these fail to work, then eye surgery is considered. Physiotherapists and occupational therapists are often involved early on in the care of infants and children with weakness and/or learning disability. Input from an educational psychologist is often indicated for children with learning disability. Inheritance patterns and prenatal diagnosis Inheritance patternsSWS is not passed on from a parent to their child. It is thought to be something that occurs by chance in most cases. Prenatal diagnosis None at present, although with increasing use of antenatal fetal MRI scans this could evolve. Is there support? Sturge Weber UK Tel: 01422 820408Email: support@sturgeweber.org.ukWebsite: sturgeweber.org.uk Sturge Weber UK is a Registered Charity in England and Wales No. 1016688. It provides information and support for families and adults affected by Sturge Weber syndrome. The Organisation holds a family weekend every eighteen months when doctors and other professionals talk about relevant topics. Group details last updated June 2021
What are the symptoms? The most common sign of the condition is the ‘port wine’ stain on the face, named because of its colour. However, in about 13 per cent of cases there is no port wine stain. Some of the neurological problems that children can suffer from include: headachehemiparesis (weakness down one side of the body)overgrowth of one side of the bodyseizures – these can sometimes be difficult to controlfrequent ‘stroke-like’ episodeseye abnormalities – including glaucoma and buphthalmos (enlargement and protrusion of the eye), which can occur because of the high pressure within the eyeball. In severe cases this can lead to blindnesslearning disability. Problems with learning and development are more common when angiomas are found on both sides of the brain (involving the right and left brain hemisphere). Symptoms in SWS can vary a lot. This is because the symptoms are often related to where the angiomas on the brain surface are found and how widespread they are.
How is it diagnosed? A detailed clinical examination is the first step to diagnosing SWS. Brain scans – computed tomography (CT) or a magnetic resonance imaging (MRI) – are also performed. These provide more information than can be obtained clinically, including revealing whether both brain hemispheres are affected and if there is any cortical atrophy (shrinking of the surface of the brain). If the child suffers from seizures then an electroencephalogram (EEG) is also needed. Regular eye check ups by a specialist is also important.
How is it treated? Management of SWS remains symptomatic, meaning that the symptoms of the condition are treated rather than the underlying cause and this will involve a number of specialists. Anticonvulsant medications are often used to control seizures. Where seizures are difficult to control, two or more anticonvulsant drugs may be used at once. Surgery is considered where anticonvulsant drugs cannot control the seizures; this is only carried out in highly specialised children’s centres. Laser therapy can be used to lighten the port wine stain or remove it. Medications are used to treat glaucoma, but if these fail to work, then eye surgery is considered. Physiotherapists and occupational therapists are often involved early on in the care of infants and children with weakness and/or learning disability. Input from an educational psychologist is often indicated for children with learning disability.
Inheritance patterns and prenatal diagnosis Inheritance patternsSWS is not passed on from a parent to their child. It is thought to be something that occurs by chance in most cases. Prenatal diagnosis None at present, although with increasing use of antenatal fetal MRI scans this could evolve.
Is there support? Sturge Weber UK Tel: 01422 820408Email: support@sturgeweber.org.ukWebsite: sturgeweber.org.uk Sturge Weber UK is a Registered Charity in England and Wales No. 1016688. It provides information and support for families and adults affected by Sturge Weber syndrome. The Organisation holds a family weekend every eighteen months when doctors and other professionals talk about relevant topics. Group details last updated June 2021
Background Stroke is defined as the rapid loss of brain function due to disturbance in the blood supply to the brain. Around 25 per cent of patients are under 65 years of age and a smaller percentage are teenagers and children. Credits Last updated May 2019 by Professor P Sharma, Consultant Neurologist, Imperial College Healthcare NHS Trust and Professor of Neurology Royal Holloway, University of London. Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? Ischaemic stroke (caused by a blockage in the flow of blood to the brain) is the commonest type of stroke, although in children it occurs in equal frequency as haemorrhagic (bleed) stroke. The causes are abnormal patches of fatty substance in the arteries, hardening of the arteries and arterial thrombosis (blood clot). Sometimes this type of stroke can also occur in patients from a dislodged blood clot in the heart making its way to the brain. Other risk factors for this type of stroke include blood clotting or vessel abnormalities, infections, heart problems and sickle cell disease. Transient ischaemic attack (TIA) is a form of ischaemic stroke often called a ‘mini-stroke’. The distinguishing feature of this type of stroke is that its neurological effects last less than 24 hours and often much shorter. The patient usually fully recovers. The causes for a TIA are similar to a full stroke. Someone who has suffered a TIA is at a much greater risk of a full stroke and therefore a TIA should be regarded as a warning ensuring that urgent investigations are undertaken by a neurologist or stroke specialist. Haemorrhagic strokes result from arterial bleeds rather than occlusions (obstructions). The symptoms however are indistinguishable from ischaemic strokes, although the management is different in terms of investigations, treatment and future prevention. What are the causes? Unlike in older patients where the causes of stroke tend to be diseased atheromatous (fatty degeneration of the inner coat of the arteries or abnormal fatty deposits in an artery) vessels, in younger patients it tends to be abnormalities of the vessels themselves. These can be related to trauma or abnormalities developed from birth. It is important to realise that this does not necessarily mean that the condition is inherited or that offspring will be affected. Also, any vessel malformation tends to be localised (to a small region) and not generalised (across a larger area). Abnormalities of the clotting system can also cause stroke and these would be managed directly with appropriate drugs. In children the cause of a stroke is usually very specific such as a blood disorder or as a consequence of abnormal development of blood vessels in the brain. These abnormal blood vessels tend to be very localised in the brain and not widespread. How is it diagnosed? The diagnosis of stroke in children and young adults is made in the same way as in older patients. The main investigation is a brain scan, usually a magnetic resonance image (MRI). Once the diagnosis is made further investigations are necessary to determine the reason for the stroke. These investigations can include heart and blood vessel scans as well as detailed specialised blood tests. How is it treated? The treatment of stroke can broadly be divided into (i) the stroke itself, and (ii) dealing with the causes of the stroke. After having dealt with the urgent admission it is rehabilitation that is the most important form of management. Treatment is also aimed at any factors that have been identified as the cause of stroke. Recovery in childhood stroke tends to be better than in adult stroke as a child’s brain is usually more flexible and can compensate for the damage. Clinical investigations should be comprehensively taken in a specialised unit. Counselling should be offered to the patient and their family and this may need to be continued as the child progresses through to teenage years and as a young adult. Inheritance patterns and prenatal diagnosis Inheritance patternsThere is little doubt that stroke has an underlying (but small) genetic contribution. However, the likely number of genes and their individual effects are not known. A few directly inherited genetic conditions do exist but these are very rare. Specialised services for these and other familial causes of stroke exist in a small number of neurology centres with a particular interest in genetics of stroke. Prenatal diagnosis This may be possible for an individual member of a family with a known genetic mutation. Is there support? Chest, Heart and Stroke Scotland Advice Line: 0808 801 0899Office: 0131 225 6963Email: adviceline@chss.org.ukWebsite: chss.org.uk The Organisation is a Registered Charity in Scotland No. SC018761, established in 1899. It offers support and a confidential, independent advice line run by trained nurses for people living with chest, heart and stroke illness, their families, carers and health professionals. Group details last updated June 2017. Different Strokes Tel: 0345 130 7172Email: webcontact@differentstrokes.co.ukWebsite: differentstrokes.co.uk The Organisation is a Registered Charity in England and Wales No. 1092168. It provides information and support for younger stroke survivors and their families. Group details last updated June 2017. Northern Ireland Chest Heart & Stroke (NICHS) Tel: 028 9032 0184Email: mail@nichs.org.ukWebsite: nichs.org.uk NICHS is a Registered Charity in Northern Ireland No. XN47338. It provides information and support to people affected by chest, heart and lung conditions and stroke, and their families and carers. The Charity offers programmes of health promotion, research and rehabilitation, and runs local support groups. Group details last updated June 2017. Stroke Association Helpline: 0303 303 3100Email: childhoodstoke@stroke.org.ukWebsite: stroke.org.uk/childhood-stroke The Stroke Association is a Registered Charity in England and Wales No. 211015 and in Scotland (SC037789). Also registered in the Isle of Man (No 945) and Jersey (No 221), and operating as a charity in Northern Ireland. It provides information and support to anyone affected by stroke. The Association offers a Childhood Stroke Support Service which provides practical information on a wide range of topics and emotional support for children, young people, families and professionals. Group details last updated January 2024 . Direct services for children and adults affected by stroke are also provided by the Foundation for Conductive Education (see entry Cerebral Palsy).
What are the symptoms? Ischaemic stroke (caused by a blockage in the flow of blood to the brain) is the commonest type of stroke, although in children it occurs in equal frequency as haemorrhagic (bleed) stroke. The causes are abnormal patches of fatty substance in the arteries, hardening of the arteries and arterial thrombosis (blood clot). Sometimes this type of stroke can also occur in patients from a dislodged blood clot in the heart making its way to the brain. Other risk factors for this type of stroke include blood clotting or vessel abnormalities, infections, heart problems and sickle cell disease. Transient ischaemic attack (TIA) is a form of ischaemic stroke often called a ‘mini-stroke’. The distinguishing feature of this type of stroke is that its neurological effects last less than 24 hours and often much shorter. The patient usually fully recovers. The causes for a TIA are similar to a full stroke. Someone who has suffered a TIA is at a much greater risk of a full stroke and therefore a TIA should be regarded as a warning ensuring that urgent investigations are undertaken by a neurologist or stroke specialist. Haemorrhagic strokes result from arterial bleeds rather than occlusions (obstructions). The symptoms however are indistinguishable from ischaemic strokes, although the management is different in terms of investigations, treatment and future prevention. What are the causes? Unlike in older patients where the causes of stroke tend to be diseased atheromatous (fatty degeneration of the inner coat of the arteries or abnormal fatty deposits in an artery) vessels, in younger patients it tends to be abnormalities of the vessels themselves. These can be related to trauma or abnormalities developed from birth. It is important to realise that this does not necessarily mean that the condition is inherited or that offspring will be affected. Also, any vessel malformation tends to be localised (to a small region) and not generalised (across a larger area). Abnormalities of the clotting system can also cause stroke and these would be managed directly with appropriate drugs. In children the cause of a stroke is usually very specific such as a blood disorder or as a consequence of abnormal development of blood vessels in the brain. These abnormal blood vessels tend to be very localised in the brain and not widespread. How is it diagnosed? The diagnosis of stroke in children and young adults is made in the same way as in older patients. The main investigation is a brain scan, usually a magnetic resonance image (MRI). Once the diagnosis is made further investigations are necessary to determine the reason for the stroke. These investigations can include heart and blood vessel scans as well as detailed specialised blood tests. How is it treated? The treatment of stroke can broadly be divided into (i) the stroke itself, and (ii) dealing with the causes of the stroke. After having dealt with the urgent admission it is rehabilitation that is the most important form of management. Treatment is also aimed at any factors that have been identified as the cause of stroke. Recovery in childhood stroke tends to be better than in adult stroke as a child’s brain is usually more flexible and can compensate for the damage. Clinical investigations should be comprehensively taken in a specialised unit. Counselling should be offered to the patient and their family and this may need to be continued as the child progresses through to teenage years and as a young adult. Inheritance patterns and prenatal diagnosis Inheritance patternsThere is little doubt that stroke has an underlying (but small) genetic contribution. However, the likely number of genes and their individual effects are not known. A few directly inherited genetic conditions do exist but these are very rare. Specialised services for these and other familial causes of stroke exist in a small number of neurology centres with a particular interest in genetics of stroke. Prenatal diagnosis This may be possible for an individual member of a family with a known genetic mutation. Is there support? Chest, Heart and Stroke Scotland Advice Line: 0808 801 0899Office: 0131 225 6963Email: adviceline@chss.org.ukWebsite: chss.org.uk The Organisation is a Registered Charity in Scotland No. SC018761, established in 1899. It offers support and a confidential, independent advice line run by trained nurses for people living with chest, heart and stroke illness, their families, carers and health professionals. Group details last updated June 2017. Different Strokes Tel: 0345 130 7172Email: webcontact@differentstrokes.co.ukWebsite: differentstrokes.co.uk The Organisation is a Registered Charity in England and Wales No. 1092168. It provides information and support for younger stroke survivors and their families. Group details last updated June 2017. Northern Ireland Chest Heart & Stroke (NICHS) Tel: 028 9032 0184Email: mail@nichs.org.ukWebsite: nichs.org.uk NICHS is a Registered Charity in Northern Ireland No. XN47338. It provides information and support to people affected by chest, heart and lung conditions and stroke, and their families and carers. The Charity offers programmes of health promotion, research and rehabilitation, and runs local support groups. Group details last updated June 2017. Stroke Association Helpline: 0303 303 3100Email: childhoodstoke@stroke.org.ukWebsite: stroke.org.uk/childhood-stroke The Stroke Association is a Registered Charity in England and Wales No. 211015 and in Scotland (SC037789). Also registered in the Isle of Man (No 945) and Jersey (No 221), and operating as a charity in Northern Ireland. It provides information and support to anyone affected by stroke. The Association offers a Childhood Stroke Support Service which provides practical information on a wide range of topics and emotional support for children, young people, families and professionals. Group details last updated January 2024 . Direct services for children and adults affected by stroke are also provided by the Foundation for Conductive Education (see entry Cerebral Palsy).
What are the symptoms? Ischaemic stroke (caused by a blockage in the flow of blood to the brain) is the commonest type of stroke, although in children it occurs in equal frequency as haemorrhagic (bleed) stroke. The causes are abnormal patches of fatty substance in the arteries, hardening of the arteries and arterial thrombosis (blood clot). Sometimes this type of stroke can also occur in patients from a dislodged blood clot in the heart making its way to the brain. Other risk factors for this type of stroke include blood clotting or vessel abnormalities, infections, heart problems and sickle cell disease. Transient ischaemic attack (TIA) is a form of ischaemic stroke often called a ‘mini-stroke’. The distinguishing feature of this type of stroke is that its neurological effects last less than 24 hours and often much shorter. The patient usually fully recovers. The causes for a TIA are similar to a full stroke. Someone who has suffered a TIA is at a much greater risk of a full stroke and therefore a TIA should be regarded as a warning ensuring that urgent investigations are undertaken by a neurologist or stroke specialist. Haemorrhagic strokes result from arterial bleeds rather than occlusions (obstructions). The symptoms however are indistinguishable from ischaemic strokes, although the management is different in terms of investigations, treatment and future prevention.
What are the causes? Unlike in older patients where the causes of stroke tend to be diseased atheromatous (fatty degeneration of the inner coat of the arteries or abnormal fatty deposits in an artery) vessels, in younger patients it tends to be abnormalities of the vessels themselves. These can be related to trauma or abnormalities developed from birth. It is important to realise that this does not necessarily mean that the condition is inherited or that offspring will be affected. Also, any vessel malformation tends to be localised (to a small region) and not generalised (across a larger area). Abnormalities of the clotting system can also cause stroke and these would be managed directly with appropriate drugs. In children the cause of a stroke is usually very specific such as a blood disorder or as a consequence of abnormal development of blood vessels in the brain. These abnormal blood vessels tend to be very localised in the brain and not widespread.
How is it diagnosed? The diagnosis of stroke in children and young adults is made in the same way as in older patients. The main investigation is a brain scan, usually a magnetic resonance image (MRI). Once the diagnosis is made further investigations are necessary to determine the reason for the stroke. These investigations can include heart and blood vessel scans as well as detailed specialised blood tests.
How is it treated? The treatment of stroke can broadly be divided into (i) the stroke itself, and (ii) dealing with the causes of the stroke. After having dealt with the urgent admission it is rehabilitation that is the most important form of management. Treatment is also aimed at any factors that have been identified as the cause of stroke. Recovery in childhood stroke tends to be better than in adult stroke as a child’s brain is usually more flexible and can compensate for the damage. Clinical investigations should be comprehensively taken in a specialised unit. Counselling should be offered to the patient and their family and this may need to be continued as the child progresses through to teenage years and as a young adult.
Inheritance patterns and prenatal diagnosis Inheritance patternsThere is little doubt that stroke has an underlying (but small) genetic contribution. However, the likely number of genes and their individual effects are not known. A few directly inherited genetic conditions do exist but these are very rare. Specialised services for these and other familial causes of stroke exist in a small number of neurology centres with a particular interest in genetics of stroke. Prenatal diagnosis This may be possible for an individual member of a family with a known genetic mutation.
Is there support? Chest, Heart and Stroke Scotland Advice Line: 0808 801 0899Office: 0131 225 6963Email: adviceline@chss.org.ukWebsite: chss.org.uk The Organisation is a Registered Charity in Scotland No. SC018761, established in 1899. It offers support and a confidential, independent advice line run by trained nurses for people living with chest, heart and stroke illness, their families, carers and health professionals. Group details last updated June 2017. Different Strokes Tel: 0345 130 7172Email: webcontact@differentstrokes.co.ukWebsite: differentstrokes.co.uk The Organisation is a Registered Charity in England and Wales No. 1092168. It provides information and support for younger stroke survivors and their families. Group details last updated June 2017. Northern Ireland Chest Heart & Stroke (NICHS) Tel: 028 9032 0184Email: mail@nichs.org.ukWebsite: nichs.org.uk NICHS is a Registered Charity in Northern Ireland No. XN47338. It provides information and support to people affected by chest, heart and lung conditions and stroke, and their families and carers. The Charity offers programmes of health promotion, research and rehabilitation, and runs local support groups. Group details last updated June 2017. Stroke Association Helpline: 0303 303 3100Email: childhoodstoke@stroke.org.ukWebsite: stroke.org.uk/childhood-stroke The Stroke Association is a Registered Charity in England and Wales No. 211015 and in Scotland (SC037789). Also registered in the Isle of Man (No 945) and Jersey (No 221), and operating as a charity in Northern Ireland. It provides information and support to anyone affected by stroke. The Association offers a Childhood Stroke Support Service which provides practical information on a wide range of topics and emotional support for children, young people, families and professionals. Group details last updated January 2024 . Direct services for children and adults affected by stroke are also provided by the Foundation for Conductive Education (see entry Cerebral Palsy).
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 can give you information, support and advice. To meet other parents see support groups below or meet other parents online in our closed Facebook group We no longer hold a description of Stillbirths and Neonatal Deaths. You may find it more helpful to search for a particular or specific condition in our online medical information instead. Other UK sites with trusted health information: NHS Choiceswww.nhs.uk Patient UKwww.patient.co.uk Although alternative links have been selected with great care, Contact a Family cannot accept responsibility for any inaccuracies or errors. Alternative information providers comply with the Information Standard and give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? SANDS (Stillbirth and Neonatal Death Society) Helpline: 020 7436 5881Email: helpline@uk-sands.orgWebsite: sands.org.uk The Society is a Registered Charity in England and Wales No. 299679. It provides support to anyone affected by the death of a baby before, during or shortly after birth. The Society has a network of support groups across the UK and runs an online forum. Group details last updated March 2016.
Is there support? SANDS (Stillbirth and Neonatal Death Society) Helpline: 020 7436 5881Email: helpline@uk-sands.orgWebsite: sands.org.uk The Society is a Registered Charity in England and Wales No. 299679. It provides support to anyone affected by the death of a baby before, during or shortly after birth. The Society has a network of support groups across the UK and runs an online forum. Group details last updated March 2016.
Is there support? SANDS (Stillbirth and Neonatal Death Society) Helpline: 020 7436 5881Email: helpline@uk-sands.orgWebsite: sands.org.uk The Society is a Registered Charity in England and Wales No. 299679. It provides support to anyone affected by the death of a baby before, during or shortly after birth. The Society has a network of support groups across the UK and runs an online forum. Group details last updated March 2016.
Also known as: Hereditary Progressive Arthro-ophthalmopathy Background Stickler syndrome is a genetic condition that affects connective tissue. Its main effects are on the eyes, joints, hearing and palate (roof of the mouth), although there are sub-groups that do not have effects in all of these areas. Credits Last updated November 2016 by Mr MP Snead, Consultant Vitreoretinal Surgeon and Lead for NHS England Stickler Syndrome Diagnostic Service , Addenbrookes Hospital, Cambridge, UK Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional. What are the symptoms? Individuals affected by Stickler syndrome may have: Ocular (eye) problems Myopia (short-sightedness) – children can see better at short distances than long and are born with this (known as congenital myopia).Retinal detachment – sometimes a tear or a hole can appear in the retina and water from within the eye can leak down behind the retina causing it to come away from the back of the eye.Cataract (cloudiness of the eye lens). A specific shape of cataract called a wedge or quadrantic lamellar cataract is often seen in Stickler syndrome. Joint problems Hypermobility (looseness and overflexibility of joints).Stiffness and premature arthritis.Prominent joints – joints that are more visible than normal.Widening of the ends of long bones (bones are those that are longer than they are wide, such as the tibia and the femur). This feature may only be evident on X-ray and many patients with Stickler syndrome have no detectable abnormality on X-ray Specific facial features Cleft or high arch to the palate (see entry Cleft Lip and/or Palate)Mid-facial hypoplasia (“Flat” middle of the face).Micrognathia (undersized jaw). Hearing problems Sensorineural and/or conductive hearing loss (see entry Deafness).Otitis media (glue ear; see entry Deafness). What are the causes? A mutation (change) in any one of several genes that control and direct collagen synthesis may cause Stickler syndrome. So far, 8 types of Stickler syndrome have been identified, each with their own features. How is it diagnosed? Diagnosis is based on clinical examination with confirmation by DNA molecular genetic analysis. How is it treated? There is no cure for Stickler syndrome, but early diagnosis and preventative surgery can substantially reduce the risk of blindness from retinal detachment. However, retinal detachment, if it occurs, can be repaired surgically. Regular checks by an eye specialist are vital to maintain and preserve sight. Spectacles or contact lenses can usually sharpen vision. Sometimes the vision will not be perfect, which can be because of other problems with the eye, such as cataract. Clefting of the palate can be repaired surgically and consultation with a specialist cleft palate service will be required. Physiotherapy to reduce pain and improve muscle strength may be necessary for relieving the symptoms of hypermobility. Inheritance patterns and prenatal diagnosis Inheritance patternsInheritance is usually autosomal dominant or rarely recessive. Sporadic (new) cases are well recognised. Prenatal diagnosisPre-implantation genetic diagnosis (PIGD) is now feasible. Ultrasound screening may identify cleft palate, which can indicate the condition. Is there support? Stickler Syndrome UK Tel: 01903 785 771Email: info@stickler.org.ukWebsite: stickler.org.uk The Group is a Registered Charity in England and Wales No. 1060421. It offers support and information for families, teachers and healthcare professionals. The Group publishes a newsletter and is in touch with about 500 families in the UK and abroad. Group details last updated November 2016.
What are the symptoms? Individuals affected by Stickler syndrome may have: Ocular (eye) problems Myopia (short-sightedness) – children can see better at short distances than long and are born with this (known as congenital myopia).Retinal detachment – sometimes a tear or a hole can appear in the retina and water from within the eye can leak down behind the retina causing it to come away from the back of the eye.Cataract (cloudiness of the eye lens). A specific shape of cataract called a wedge or quadrantic lamellar cataract is often seen in Stickler syndrome. Joint problems Hypermobility (looseness and overflexibility of joints).Stiffness and premature arthritis.Prominent joints – joints that are more visible than normal.Widening of the ends of long bones (bones are those that are longer than they are wide, such as the tibia and the femur). This feature may only be evident on X-ray and many patients with Stickler syndrome have no detectable abnormality on X-ray Specific facial features Cleft or high arch to the palate (see entry Cleft Lip and/or Palate)Mid-facial hypoplasia (“Flat” middle of the face).Micrognathia (undersized jaw). Hearing problems Sensorineural and/or conductive hearing loss (see entry Deafness).Otitis media (glue ear; see entry Deafness). What are the causes? A mutation (change) in any one of several genes that control and direct collagen synthesis may cause Stickler syndrome. So far, 8 types of Stickler syndrome have been identified, each with their own features. How is it diagnosed? Diagnosis is based on clinical examination with confirmation by DNA molecular genetic analysis. How is it treated? There is no cure for Stickler syndrome, but early diagnosis and preventative surgery can substantially reduce the risk of blindness from retinal detachment. However, retinal detachment, if it occurs, can be repaired surgically. Regular checks by an eye specialist are vital to maintain and preserve sight. Spectacles or contact lenses can usually sharpen vision. Sometimes the vision will not be perfect, which can be because of other problems with the eye, such as cataract. Clefting of the palate can be repaired surgically and consultation with a specialist cleft palate service will be required. Physiotherapy to reduce pain and improve muscle strength may be necessary for relieving the symptoms of hypermobility. Inheritance patterns and prenatal diagnosis Inheritance patternsInheritance is usually autosomal dominant or rarely recessive. Sporadic (new) cases are well recognised. Prenatal diagnosisPre-implantation genetic diagnosis (PIGD) is now feasible. Ultrasound screening may identify cleft palate, which can indicate the condition. Is there support? Stickler Syndrome UK Tel: 01903 785 771Email: info@stickler.org.ukWebsite: stickler.org.uk The Group is a Registered Charity in England and Wales No. 1060421. It offers support and information for families, teachers and healthcare professionals. The Group publishes a newsletter and is in touch with about 500 families in the UK and abroad. Group details last updated November 2016.
What are the symptoms? Individuals affected by Stickler syndrome may have: Ocular (eye) problems Myopia (short-sightedness) – children can see better at short distances than long and are born with this (known as congenital myopia).Retinal detachment – sometimes a tear or a hole can appear in the retina and water from within the eye can leak down behind the retina causing it to come away from the back of the eye.Cataract (cloudiness of the eye lens). A specific shape of cataract called a wedge or quadrantic lamellar cataract is often seen in Stickler syndrome. Joint problems Hypermobility (looseness and overflexibility of joints).Stiffness and premature arthritis.Prominent joints – joints that are more visible than normal.Widening of the ends of long bones (bones are those that are longer than they are wide, such as the tibia and the femur). This feature may only be evident on X-ray and many patients with Stickler syndrome have no detectable abnormality on X-ray Specific facial features Cleft or high arch to the palate (see entry Cleft Lip and/or Palate)Mid-facial hypoplasia (“Flat” middle of the face).Micrognathia (undersized jaw). Hearing problems Sensorineural and/or conductive hearing loss (see entry Deafness).Otitis media (glue ear; see entry Deafness).
What are the causes? A mutation (change) in any one of several genes that control and direct collagen synthesis may cause Stickler syndrome. So far, 8 types of Stickler syndrome have been identified, each with their own features.
How is it diagnosed? Diagnosis is based on clinical examination with confirmation by DNA molecular genetic analysis.
How is it treated? There is no cure for Stickler syndrome, but early diagnosis and preventative surgery can substantially reduce the risk of blindness from retinal detachment. However, retinal detachment, if it occurs, can be repaired surgically. Regular checks by an eye specialist are vital to maintain and preserve sight. Spectacles or contact lenses can usually sharpen vision. Sometimes the vision will not be perfect, which can be because of other problems with the eye, such as cataract. Clefting of the palate can be repaired surgically and consultation with a specialist cleft palate service will be required. Physiotherapy to reduce pain and improve muscle strength may be necessary for relieving the symptoms of hypermobility.
Inheritance patterns and prenatal diagnosis Inheritance patternsInheritance is usually autosomal dominant or rarely recessive. Sporadic (new) cases are well recognised. Prenatal diagnosisPre-implantation genetic diagnosis (PIGD) is now feasible. Ultrasound screening may identify cleft palate, which can indicate the condition.
Is there support? Stickler Syndrome UK Tel: 01903 785 771Email: info@stickler.org.ukWebsite: stickler.org.uk The Group is a Registered Charity in England and Wales No. 1060421. It offers support and information for families, teachers and healthcare professionals. The Group publishes a newsletter and is in touch with about 500 families in the UK and abroad. Group details last updated November 2016.
Also known as: Stargardt disease Background Stargardt macular dystrophy is the most common form of inherited macular dystrophy in young people. The macula is located at the back of the eye in the centre of the retina (the light-sensitive film in the eye). ‘Dystrophy’ means that the cells in the macula have an abnormal structure or function. The most common feature of Stargardt macular dystrophy is loss of central vision (a person’s field of vision when they are looking straight ahead), and a distinctive appearance when the eye is examined by a specialist. Stargardt macular dystrophy is usually identified between the ages of 6 and 20, although affected people might not be aware of the condition until their 30s, sometimes later. Although it progressively affects the central vision in most, it often stabilises at a certain point without further deterioration. Credits Medical text written January 2005 by Contact a Family. Approved January 2005 by Mr T ffytche. Last updated July 2015 by Professor Webster, Consultant Ophthalmologist, Moorfields Eye Hospital, London UK. What are the symptoms? People affected by Stargardt macular dystrophy experience to varying degrees: decreased central vision, which gets worse over a period of months and yearsproblems with tracking objects and readingloss of colour visiongradual loss of ability to distinguish facesreduced ability to see clearly. What are the causes? The cause of Stargardt macular dystrophy is a defect in a gene called ABCA4 (originally called ABCR) which causes progressive dysfunction and loss of special cells called cone photoreceptors, from the central part of the retina. Cone cells ensure clear central vision, colour perception, and the ability to see fine detail. The other visual cells in the outer areas of the retina, which are called rods, remain unaffected and peripheral (side) vision is usually preserved in most affected people. How is it diagnosed? A diagnosis of Stargardt macular dystrophy is made after examination by a specialist in retinal diseases. OCT (optical coherence tomography) and AF (autofluorescence imaging) are carried out, which are special pictures of the eye are taken after dilating the pupil with drops. These are standard, painless procedures in most specialist eye clinics. A further test, known as an electroretinogram (ERG), is often done to determine the extent of the retinal dysfunction and gives clues about prognosis (how the condition might progress). The ERG measures the electrical response of the eye’s light-sensitive cells. Electrodes are placed over the lower eyelid or on the skin near the eye to measure the electrical currents coming from the cells when a light is flashed and observed by the patient. How is it treated? At present there is no cure for Stargardt macular dystrophy, although drug treatments, gene-replacement and cell-transplantation techniques are being worked on. Management involves providing magnification and conditions of high-contrast and reverse-contrast (bright detail on a darker background). Computers, E-readers (eg Kindle) and tablets are useful in this regard. Smoking, which is a risk-factor in age-related macula disease, is also discouraged in Stargardt disease. A healthy diet is important, but there are no proven benefits of vitamin supplementation. Evidence from suggests that vitamin A supplementation and excessive light on the retina (direct sunlight for example) might actually exacerbate the disorder. The light from monitors, or indoor lights, is not likely to matter. Inheritance patterns and prenatal diagnosis Inheritance patternsThe condition is always autosomal recessive. This means that the disorder is rarely transmitted to children from an affected parent unless the parent is married to a close relative. Carrier testing is not generally available nor offered to unrelated partners of affected persons in the UK. Prenatal diagnosisPrenatal diagnosis for a family wanting a child after diagnosis in an existing child is possible, if the molecular diagnosis has been determined. For advice on these issues it is recommended the couple be referred to their Clinical Genetics department by their GP. Is there support? Stargardt Support Group Tel: 0161 792 7392Email: gilamiriamchait@yahoo.co.uk The Group is a small, informal network, established in 1995. It offers a listening ear and linking where possible. Group details last updated September 2014. Macular Society Helpline: 0300 3030 111Email: info@macularsociety.orgWebsite: macularsociety.org The Society is a Registered Charity in England and Wales No. 1001198. It provides information and support for people with macular conditions, and their families and friends. The Society runs support groups across the UK, and offers a range of services including counselling and telephone befriending. Group details last updated February 2016.
What are the symptoms? People affected by Stargardt macular dystrophy experience to varying degrees: decreased central vision, which gets worse over a period of months and yearsproblems with tracking objects and readingloss of colour visiongradual loss of ability to distinguish facesreduced ability to see clearly. What are the causes? The cause of Stargardt macular dystrophy is a defect in a gene called ABCA4 (originally called ABCR) which causes progressive dysfunction and loss of special cells called cone photoreceptors, from the central part of the retina. Cone cells ensure clear central vision, colour perception, and the ability to see fine detail. The other visual cells in the outer areas of the retina, which are called rods, remain unaffected and peripheral (side) vision is usually preserved in most affected people. How is it diagnosed? A diagnosis of Stargardt macular dystrophy is made after examination by a specialist in retinal diseases. OCT (optical coherence tomography) and AF (autofluorescence imaging) are carried out, which are special pictures of the eye are taken after dilating the pupil with drops. These are standard, painless procedures in most specialist eye clinics. A further test, known as an electroretinogram (ERG), is often done to determine the extent of the retinal dysfunction and gives clues about prognosis (how the condition might progress). The ERG measures the electrical response of the eye’s light-sensitive cells. Electrodes are placed over the lower eyelid or on the skin near the eye to measure the electrical currents coming from the cells when a light is flashed and observed by the patient. How is it treated? At present there is no cure for Stargardt macular dystrophy, although drug treatments, gene-replacement and cell-transplantation techniques are being worked on. Management involves providing magnification and conditions of high-contrast and reverse-contrast (bright detail on a darker background). Computers, E-readers (eg Kindle) and tablets are useful in this regard. Smoking, which is a risk-factor in age-related macula disease, is also discouraged in Stargardt disease. A healthy diet is important, but there are no proven benefits of vitamin supplementation. Evidence from suggests that vitamin A supplementation and excessive light on the retina (direct sunlight for example) might actually exacerbate the disorder. The light from monitors, or indoor lights, is not likely to matter. Inheritance patterns and prenatal diagnosis Inheritance patternsThe condition is always autosomal recessive. This means that the disorder is rarely transmitted to children from an affected parent unless the parent is married to a close relative. Carrier testing is not generally available nor offered to unrelated partners of affected persons in the UK. Prenatal diagnosisPrenatal diagnosis for a family wanting a child after diagnosis in an existing child is possible, if the molecular diagnosis has been determined. For advice on these issues it is recommended the couple be referred to their Clinical Genetics department by their GP. Is there support? Stargardt Support Group Tel: 0161 792 7392Email: gilamiriamchait@yahoo.co.uk The Group is a small, informal network, established in 1995. It offers a listening ear and linking where possible. Group details last updated September 2014. Macular Society Helpline: 0300 3030 111Email: info@macularsociety.orgWebsite: macularsociety.org The Society is a Registered Charity in England and Wales No. 1001198. It provides information and support for people with macular conditions, and their families and friends. The Society runs support groups across the UK, and offers a range of services including counselling and telephone befriending. Group details last updated February 2016.
What are the symptoms? People affected by Stargardt macular dystrophy experience to varying degrees: decreased central vision, which gets worse over a period of months and yearsproblems with tracking objects and readingloss of colour visiongradual loss of ability to distinguish facesreduced ability to see clearly.
What are the causes? The cause of Stargardt macular dystrophy is a defect in a gene called ABCA4 (originally called ABCR) which causes progressive dysfunction and loss of special cells called cone photoreceptors, from the central part of the retina. Cone cells ensure clear central vision, colour perception, and the ability to see fine detail. The other visual cells in the outer areas of the retina, which are called rods, remain unaffected and peripheral (side) vision is usually preserved in most affected people.
How is it diagnosed? A diagnosis of Stargardt macular dystrophy is made after examination by a specialist in retinal diseases. OCT (optical coherence tomography) and AF (autofluorescence imaging) are carried out, which are special pictures of the eye are taken after dilating the pupil with drops. These are standard, painless procedures in most specialist eye clinics. A further test, known as an electroretinogram (ERG), is often done to determine the extent of the retinal dysfunction and gives clues about prognosis (how the condition might progress). The ERG measures the electrical response of the eye’s light-sensitive cells. Electrodes are placed over the lower eyelid or on the skin near the eye to measure the electrical currents coming from the cells when a light is flashed and observed by the patient.
How is it treated? At present there is no cure for Stargardt macular dystrophy, although drug treatments, gene-replacement and cell-transplantation techniques are being worked on. Management involves providing magnification and conditions of high-contrast and reverse-contrast (bright detail on a darker background). Computers, E-readers (eg Kindle) and tablets are useful in this regard. Smoking, which is a risk-factor in age-related macula disease, is also discouraged in Stargardt disease. A healthy diet is important, but there are no proven benefits of vitamin supplementation. Evidence from suggests that vitamin A supplementation and excessive light on the retina (direct sunlight for example) might actually exacerbate the disorder. The light from monitors, or indoor lights, is not likely to matter.
Inheritance patterns and prenatal diagnosis Inheritance patternsThe condition is always autosomal recessive. This means that the disorder is rarely transmitted to children from an affected parent unless the parent is married to a close relative. Carrier testing is not generally available nor offered to unrelated partners of affected persons in the UK. Prenatal diagnosisPrenatal diagnosis for a family wanting a child after diagnosis in an existing child is possible, if the molecular diagnosis has been determined. For advice on these issues it is recommended the couple be referred to their Clinical Genetics department by their GP.
Is there support? Stargardt Support Group Tel: 0161 792 7392Email: gilamiriamchait@yahoo.co.uk The Group is a small, informal network, established in 1995. It offers a listening ear and linking where possible. Group details last updated September 2014. Macular Society Helpline: 0300 3030 111Email: info@macularsociety.orgWebsite: macularsociety.org The Society is a Registered Charity in England and Wales No. 1001198. It provides information and support for people with macular conditions, and their families and friends. The Society runs support groups across the UK, and offers a range of services including counselling and telephone befriending. Group details last updated February 2016.
Background Stammering (or stuttering) is not just a speech problem; it is a problem of communication. It usually begins in early childhood when speech and language skills are developing. It can, however, also start later in childhood, adolescence and adulthood although these incidences are less common. Credits Medical text written November 1999 by E Christie, Specialist Speech and Language Therapist, British Stammering Association, London, UK. Last updated December 2011 by S Ellison, Specialist Speech and Language Therapist, British Stammering Association Trustee, Lancashire, UK. What are the symptoms? Stammering can be described as stoppages and disruptions, which interrupt the smooth flow and timing of speech. These stoppages may take the form of repetitions of sounds, syllables or words, or of prolongations of sounds so that words seem to be stretched out. Sounds may also become blocked – sometimes silently. Speech may sound forced, tense or jerky. People who stammer may avoid certain words or situations that they think will cause them difficulty. As a communication problem, for the child or adult who stammers, confidence and self-esteem can be seriously affected. This means people who stammer may experience difficulties in a range of social, educational and employment settings. Sometimes stammering may develop into a ‘hidden’ problem as the person may avoid relationships, situations and opportunities in attempt to hide their stammer. It has been known for parents to believe their child no longer stammers and for partners/spouses to be unaware of stammering when a person becomes so competent at avoidance behaviours. How is it treated? Therapy is available for people of all ages who stammer and a variety of treatment approaches may be offered, including individual and/or group therapy. Research has shown that early intervention by a speech and language therapist, especially in the preschool years, may prevent the development of persistent stammering. It is recommended, therefore, that parents seek referral to speech and language therapy as soon as their child shows signs of stammering. Inheritance patterns and prenatal diagnosis Inheritance patternsThere may be a family history of stammering and a child may also have speech and language difficulties in addition to their stammer – although certainly not always. Prenatal diagnosisNone. Is there support? British Stammering Association Helpline: 0808 802 0002Email: help@stamma.orgWebsite: stamma.org The Association is a Registered Charity in England and Wales No. 1089967. It offers information and support to all those whose lives are affected by stammering. The Association also has a specialist website for parents of school-age children who stammer. Group details last updated September 2019.
What are the symptoms? Stammering can be described as stoppages and disruptions, which interrupt the smooth flow and timing of speech. These stoppages may take the form of repetitions of sounds, syllables or words, or of prolongations of sounds so that words seem to be stretched out. Sounds may also become blocked – sometimes silently. Speech may sound forced, tense or jerky. People who stammer may avoid certain words or situations that they think will cause them difficulty. As a communication problem, for the child or adult who stammers, confidence and self-esteem can be seriously affected. This means people who stammer may experience difficulties in a range of social, educational and employment settings. Sometimes stammering may develop into a ‘hidden’ problem as the person may avoid relationships, situations and opportunities in attempt to hide their stammer. It has been known for parents to believe their child no longer stammers and for partners/spouses to be unaware of stammering when a person becomes so competent at avoidance behaviours. How is it treated? Therapy is available for people of all ages who stammer and a variety of treatment approaches may be offered, including individual and/or group therapy. Research has shown that early intervention by a speech and language therapist, especially in the preschool years, may prevent the development of persistent stammering. It is recommended, therefore, that parents seek referral to speech and language therapy as soon as their child shows signs of stammering. Inheritance patterns and prenatal diagnosis Inheritance patternsThere may be a family history of stammering and a child may also have speech and language difficulties in addition to their stammer – although certainly not always. Prenatal diagnosisNone. Is there support? British Stammering Association Helpline: 0808 802 0002Email: help@stamma.orgWebsite: stamma.org The Association is a Registered Charity in England and Wales No. 1089967. It offers information and support to all those whose lives are affected by stammering. The Association also has a specialist website for parents of school-age children who stammer. Group details last updated September 2019.
What are the symptoms? Stammering can be described as stoppages and disruptions, which interrupt the smooth flow and timing of speech. These stoppages may take the form of repetitions of sounds, syllables or words, or of prolongations of sounds so that words seem to be stretched out. Sounds may also become blocked – sometimes silently. Speech may sound forced, tense or jerky. People who stammer may avoid certain words or situations that they think will cause them difficulty. As a communication problem, for the child or adult who stammers, confidence and self-esteem can be seriously affected. This means people who stammer may experience difficulties in a range of social, educational and employment settings. Sometimes stammering may develop into a ‘hidden’ problem as the person may avoid relationships, situations and opportunities in attempt to hide their stammer. It has been known for parents to believe their child no longer stammers and for partners/spouses to be unaware of stammering when a person becomes so competent at avoidance behaviours.
How is it treated? Therapy is available for people of all ages who stammer and a variety of treatment approaches may be offered, including individual and/or group therapy. Research has shown that early intervention by a speech and language therapist, especially in the preschool years, may prevent the development of persistent stammering. It is recommended, therefore, that parents seek referral to speech and language therapy as soon as their child shows signs of stammering.
Inheritance patterns and prenatal diagnosis Inheritance patternsThere may be a family history of stammering and a child may also have speech and language difficulties in addition to their stammer – although certainly not always. Prenatal diagnosisNone.
Is there support? British Stammering Association Helpline: 0808 802 0002Email: help@stamma.orgWebsite: stamma.org The Association is a Registered Charity in England and Wales No. 1089967. It offers information and support to all those whose lives are affected by stammering. The Association also has a specialist website for parents of school-age children who stammer. Group details last updated September 2019.
Background Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition causing progressive muscle wasting (atrophy) and weakness leading to loss of movement. Approximately one in every 10,000 babies worldwide are born with a Type of SMA. Credits Medical text written September 2011 by Dr M Scoto Clinical Research Associate, and Dr A Manzur, Consultant Paediatric Neurologist, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK. Text updated July 2022 by Spinal Muscular Atrophy UK (SMA UK). What are the symptoms? Spinal Muscular Atrophy (SMA) may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. There are different forms of SMA and a wide spectrum of how severely children are affected. The most common form is known as ‘5q SMA’; the term ‘5q’ refers to its genetic cause. When a child is first diagnosed with 5q SMA, the doctor gives a clinical classification – SMA Type 1, 2, 3 – which reflects the age of onset of symptoms and the motor milestones that someone would be expected to achieve. The summaries below briefly describe how the condition impacts if untreated. Before 2007, without intervention for breathing difficulties, most children were expected to live for less than two years. Since late 2016, the gradual worldwide introduction of drug treatments has been changing outcomes positively, especially for newly diagnosed infants. Type I (sometimes called Werdnig Hoffman disease) Symptoms of muscle weakness usually begin between 0 and 6 months. Infants are unable to sit without support and may be described by clinicians as ‘non-sitters’. They also often have feeding and breathing difficulties due to their weak muscles. Generally, the earlier the onset of symptoms, the more severe the condition. In the past, without intervention for breathing difficulties and drug treatments infants rarely survived their second birthday. Type 2 (sometimes called SMA Type II or Dubowitz disease or intermediate SMA)Symptoms usually begin between 7 and 18 months of age. Children and adults are unable to stand without support and may be described by clinicians as ‘sitters’. Their swallowing and breathing muscles may or may not be affected. If someone’s breathing muscles are affected, this can make it difficult to cough effectively, which can make them more vulnerable to chest (respiratory) infections. Though this is a serious complication associated with reduced life expectancy, improvements in healthcare standards mean that the majority of people live long lives. Type 3 (sometimes called SMA Type III or Kugelberg-Welander disease)Type 3a: symptoms usually begin between 18 months and 3 years of age. Children can stand and walk, although this becomes more difficult with age, and they will need more support over time. Type 3b, symptoms usually begin after 3 years. Difficulties with standing and walking usually occur later than they do for children with SMA Type 3a. Depending upon the individual impact of their condition, children with SMA Type 3 may be described as ‘sitters’ or ‘walkers’. Fewer people with SMA Type 3 have breathing or swallowing symptoms as swallowing and breathing muscles are not usually affected. Life expectancy isn’t usually affected and most live long lives. What are the causes? The most common form, 5q SMA, is caused when an individual inherits two faulty copies of the survival motor neurone 1 gene (SMN1) on chromosome 5 – one from each parent. 1 in 40 people are ‘carriers’ of the faulty gene. How is it diagnosed? Any child with suspected SMA will be physically examined and a blood sample for DNA testing will be arranged. The sample is tested for a deletion mutation in the Survival Motor Neuron 1 (SMN1) gene on chromosome 5. The result is usually available within 2 – 4 weeks. How is it treated? Although there is currently no cure for SMA, this doesn’t mean that nothing can be done. There are a range of options aimed at managing symptoms, reducing complications of muscle weakness and maintaining the best quality of life. These are outlined in the internationally agreed Standards of Care for SMA. There have also been huge developments in the field of research and drug treatment in recent years. There are currently three treatments funded by the NHS, however not all of these treatments are suitable or possible for all children and young people who have SMA. For more information about the drugs and who may have access visit: https://smauk.org.uk/treatments-nhs-funded-uk Inheritance patterns and prenatal diagnosis Inheritance patterns5q SMA is passed from parents to their children through faulty SMN1 genes. It usually follows an autosomal, recessive pattern of inheritance. This means that people who have inherited two faulty copies of the SMN1 gene (one from each parent) have SMA In around 2% of cases of SMA, the mutation is new in the affected person. This is called a de novo mutation and means that at least one parent is not a carrier. Prenatal diagnosisIf the genetic fault in a family affected by 5q SMA has been identified, the following options may be possible: Preimplantation Genetic Diagnosis (PGD) – pre-conception; Non-Invasive Prenatal Diagnosis (NIPD) – from around the 8th week of pregnancy; Chorionic Villus Sampling (CVS) – between the 11th and 14th week of pregnancy; Amniocentesis – between the 15th and 20th week of pregnancy. Is there support? Spinal Muscular Atrophy UK (SMA UK) Tel: 01789 267 520Email: office@smasupportuk.org.ukWebsite: smauk.org.uk SMA UK is a Registered Charity in England and Wales No. 1106815. It offers support and information to families and individuals affected by all forms of SMA, raises awareness of the condition and supports research-related initiatives. It has a small team of outreach workers who give emotional support, practical advice and guidance for anyone affected by SMA by email, phone, text or virtual meeting (e.g., zoom) and, when they have capacity, may be able to home visit. It can provide multi-sensory toy packs free of charge in the UK for newly diagnosed infants up to 12 months of age. Group details last reviewed July 2022.
What are the symptoms? Spinal Muscular Atrophy (SMA) may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. There are different forms of SMA and a wide spectrum of how severely children are affected. The most common form is known as ‘5q SMA’; the term ‘5q’ refers to its genetic cause. When a child is first diagnosed with 5q SMA, the doctor gives a clinical classification – SMA Type 1, 2, 3 – which reflects the age of onset of symptoms and the motor milestones that someone would be expected to achieve. The summaries below briefly describe how the condition impacts if untreated. Before 2007, without intervention for breathing difficulties, most children were expected to live for less than two years. Since late 2016, the gradual worldwide introduction of drug treatments has been changing outcomes positively, especially for newly diagnosed infants. Type I (sometimes called Werdnig Hoffman disease) Symptoms of muscle weakness usually begin between 0 and 6 months. Infants are unable to sit without support and may be described by clinicians as ‘non-sitters’. They also often have feeding and breathing difficulties due to their weak muscles. Generally, the earlier the onset of symptoms, the more severe the condition. In the past, without intervention for breathing difficulties and drug treatments infants rarely survived their second birthday. Type 2 (sometimes called SMA Type II or Dubowitz disease or intermediate SMA)Symptoms usually begin between 7 and 18 months of age. Children and adults are unable to stand without support and may be described by clinicians as ‘sitters’. Their swallowing and breathing muscles may or may not be affected. If someone’s breathing muscles are affected, this can make it difficult to cough effectively, which can make them more vulnerable to chest (respiratory) infections. Though this is a serious complication associated with reduced life expectancy, improvements in healthcare standards mean that the majority of people live long lives. Type 3 (sometimes called SMA Type III or Kugelberg-Welander disease)Type 3a: symptoms usually begin between 18 months and 3 years of age. Children can stand and walk, although this becomes more difficult with age, and they will need more support over time. Type 3b, symptoms usually begin after 3 years. Difficulties with standing and walking usually occur later than they do for children with SMA Type 3a. Depending upon the individual impact of their condition, children with SMA Type 3 may be described as ‘sitters’ or ‘walkers’. Fewer people with SMA Type 3 have breathing or swallowing symptoms as swallowing and breathing muscles are not usually affected. Life expectancy isn’t usually affected and most live long lives. What are the causes? The most common form, 5q SMA, is caused when an individual inherits two faulty copies of the survival motor neurone 1 gene (SMN1) on chromosome 5 – one from each parent. 1 in 40 people are ‘carriers’ of the faulty gene. How is it diagnosed? Any child with suspected SMA will be physically examined and a blood sample for DNA testing will be arranged. The sample is tested for a deletion mutation in the Survival Motor Neuron 1 (SMN1) gene on chromosome 5. The result is usually available within 2 – 4 weeks. How is it treated? Although there is currently no cure for SMA, this doesn’t mean that nothing can be done. There are a range of options aimed at managing symptoms, reducing complications of muscle weakness and maintaining the best quality of life. These are outlined in the internationally agreed Standards of Care for SMA. There have also been huge developments in the field of research and drug treatment in recent years. There are currently three treatments funded by the NHS, however not all of these treatments are suitable or possible for all children and young people who have SMA. For more information about the drugs and who may have access visit: https://smauk.org.uk/treatments-nhs-funded-uk Inheritance patterns and prenatal diagnosis Inheritance patterns5q SMA is passed from parents to their children through faulty SMN1 genes. It usually follows an autosomal, recessive pattern of inheritance. This means that people who have inherited two faulty copies of the SMN1 gene (one from each parent) have SMA In around 2% of cases of SMA, the mutation is new in the affected person. This is called a de novo mutation and means that at least one parent is not a carrier. Prenatal diagnosisIf the genetic fault in a family affected by 5q SMA has been identified, the following options may be possible: Preimplantation Genetic Diagnosis (PGD) – pre-conception; Non-Invasive Prenatal Diagnosis (NIPD) – from around the 8th week of pregnancy; Chorionic Villus Sampling (CVS) – between the 11th and 14th week of pregnancy; Amniocentesis – between the 15th and 20th week of pregnancy. Is there support? Spinal Muscular Atrophy UK (SMA UK) Tel: 01789 267 520Email: office@smasupportuk.org.ukWebsite: smauk.org.uk SMA UK is a Registered Charity in England and Wales No. 1106815. It offers support and information to families and individuals affected by all forms of SMA, raises awareness of the condition and supports research-related initiatives. It has a small team of outreach workers who give emotional support, practical advice and guidance for anyone affected by SMA by email, phone, text or virtual meeting (e.g., zoom) and, when they have capacity, may be able to home visit. It can provide multi-sensory toy packs free of charge in the UK for newly diagnosed infants up to 12 months of age. Group details last reviewed July 2022.
What are the symptoms? Spinal Muscular Atrophy (SMA) may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. There are different forms of SMA and a wide spectrum of how severely children are affected. The most common form is known as ‘5q SMA’; the term ‘5q’ refers to its genetic cause. When a child is first diagnosed with 5q SMA, the doctor gives a clinical classification – SMA Type 1, 2, 3 – which reflects the age of onset of symptoms and the motor milestones that someone would be expected to achieve. The summaries below briefly describe how the condition impacts if untreated. Before 2007, without intervention for breathing difficulties, most children were expected to live for less than two years. Since late 2016, the gradual worldwide introduction of drug treatments has been changing outcomes positively, especially for newly diagnosed infants. Type I (sometimes called Werdnig Hoffman disease) Symptoms of muscle weakness usually begin between 0 and 6 months. Infants are unable to sit without support and may be described by clinicians as ‘non-sitters’. They also often have feeding and breathing difficulties due to their weak muscles. Generally, the earlier the onset of symptoms, the more severe the condition. In the past, without intervention for breathing difficulties and drug treatments infants rarely survived their second birthday. Type 2 (sometimes called SMA Type II or Dubowitz disease or intermediate SMA)Symptoms usually begin between 7 and 18 months of age. Children and adults are unable to stand without support and may be described by clinicians as ‘sitters’. Their swallowing and breathing muscles may or may not be affected. If someone’s breathing muscles are affected, this can make it difficult to cough effectively, which can make them more vulnerable to chest (respiratory) infections. Though this is a serious complication associated with reduced life expectancy, improvements in healthcare standards mean that the majority of people live long lives. Type 3 (sometimes called SMA Type III or Kugelberg-Welander disease)Type 3a: symptoms usually begin between 18 months and 3 years of age. Children can stand and walk, although this becomes more difficult with age, and they will need more support over time. Type 3b, symptoms usually begin after 3 years. Difficulties with standing and walking usually occur later than they do for children with SMA Type 3a. Depending upon the individual impact of their condition, children with SMA Type 3 may be described as ‘sitters’ or ‘walkers’. Fewer people with SMA Type 3 have breathing or swallowing symptoms as swallowing and breathing muscles are not usually affected. Life expectancy isn’t usually affected and most live long lives.
What are the causes? The most common form, 5q SMA, is caused when an individual inherits two faulty copies of the survival motor neurone 1 gene (SMN1) on chromosome 5 – one from each parent. 1 in 40 people are ‘carriers’ of the faulty gene.
How is it diagnosed? Any child with suspected SMA will be physically examined and a blood sample for DNA testing will be arranged. The sample is tested for a deletion mutation in the Survival Motor Neuron 1 (SMN1) gene on chromosome 5. The result is usually available within 2 – 4 weeks.
How is it treated? Although there is currently no cure for SMA, this doesn’t mean that nothing can be done. There are a range of options aimed at managing symptoms, reducing complications of muscle weakness and maintaining the best quality of life. These are outlined in the internationally agreed Standards of Care for SMA. There have also been huge developments in the field of research and drug treatment in recent years. There are currently three treatments funded by the NHS, however not all of these treatments are suitable or possible for all children and young people who have SMA. For more information about the drugs and who may have access visit: https://smauk.org.uk/treatments-nhs-funded-uk
Inheritance patterns and prenatal diagnosis Inheritance patterns5q SMA is passed from parents to their children through faulty SMN1 genes. It usually follows an autosomal, recessive pattern of inheritance. This means that people who have inherited two faulty copies of the SMN1 gene (one from each parent) have SMA In around 2% of cases of SMA, the mutation is new in the affected person. This is called a de novo mutation and means that at least one parent is not a carrier. Prenatal diagnosisIf the genetic fault in a family affected by 5q SMA has been identified, the following options may be possible: Preimplantation Genetic Diagnosis (PGD) – pre-conception; Non-Invasive Prenatal Diagnosis (NIPD) – from around the 8th week of pregnancy; Chorionic Villus Sampling (CVS) – between the 11th and 14th week of pregnancy; Amniocentesis – between the 15th and 20th week of pregnancy.
Is there support? Spinal Muscular Atrophy UK (SMA UK) Tel: 01789 267 520Email: office@smasupportuk.org.ukWebsite: smauk.org.uk SMA UK is a Registered Charity in England and Wales No. 1106815. It offers support and information to families and individuals affected by all forms of SMA, raises awareness of the condition and supports research-related initiatives. It has a small team of outreach workers who give emotional support, practical advice and guidance for anyone affected by SMA by email, phone, text or virtual meeting (e.g., zoom) and, when they have capacity, may be able to home visit. It can provide multi-sensory toy packs free of charge in the UK for newly diagnosed infants up to 12 months of age. Group details last reviewed July 2022.
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group You can search search for a particular or specific condition in our online A-Z of Medical Conditions. Other UK sites with trusted health information: NHS websitewww.nhs.uk Patient UKwww.patient.co.uk Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? Spinal Injuries Association Advice line: 0800 980 0501Email: support@spinal.co.ukWebsite: spinal.co.uk The Association is a Registered Charity in England and Wales No. 1054097. It provides information and support to spinal cord injured people, their families and health care professionals. Group details last reviewed September 2023. Spinal Injuries Scotland Information line: 0800 0132 305Email: info@spinalinjuriesscotland.org.ukWebsite: spinalinjuriesscotland.org.uk The Organisation is a Registered Charity in Scotland No. SC015405. It provides information and support for new and long-term spinal cord injured people, their relatives and friends, along with those involved in the management, care and rehabilitation of the injury. Group details last reviewed September 2023. The Backup Trust Tel: 020 8875 1805Email: via websiteWebsite: backuptrust.org.uk The Trust is a Registered Charity in England and Wales No. 1072216 and Scotland No. SC040577. It provides support services for people of all ages with spinal cord injury. Services include wheelchair skills training, activity courses, mentoring and support to get back to work or school after an injury. Group details last reviewed September 2023.
Is there support? Spinal Injuries Association Advice line: 0800 980 0501Email: support@spinal.co.ukWebsite: spinal.co.uk The Association is a Registered Charity in England and Wales No. 1054097. It provides information and support to spinal cord injured people, their families and health care professionals. Group details last reviewed September 2023. Spinal Injuries Scotland Information line: 0800 0132 305Email: info@spinalinjuriesscotland.org.ukWebsite: spinalinjuriesscotland.org.uk The Organisation is a Registered Charity in Scotland No. SC015405. It provides information and support for new and long-term spinal cord injured people, their relatives and friends, along with those involved in the management, care and rehabilitation of the injury. Group details last reviewed September 2023. The Backup Trust Tel: 020 8875 1805Email: via websiteWebsite: backuptrust.org.uk The Trust is a Registered Charity in England and Wales No. 1072216 and Scotland No. SC040577. It provides support services for people of all ages with spinal cord injury. Services include wheelchair skills training, activity courses, mentoring and support to get back to work or school after an injury. Group details last reviewed September 2023.
Is there support? Spinal Injuries Association Advice line: 0800 980 0501Email: support@spinal.co.ukWebsite: spinal.co.uk The Association is a Registered Charity in England and Wales No. 1054097. It provides information and support to spinal cord injured people, their families and health care professionals. Group details last reviewed September 2023. Spinal Injuries Scotland Information line: 0800 0132 305Email: info@spinalinjuriesscotland.org.ukWebsite: spinalinjuriesscotland.org.uk The Organisation is a Registered Charity in Scotland No. SC015405. It provides information and support for new and long-term spinal cord injured people, their relatives and friends, along with those involved in the management, care and rehabilitation of the injury. Group details last reviewed September 2023. The Backup Trust Tel: 020 8875 1805Email: via websiteWebsite: backuptrust.org.uk The Trust is a Registered Charity in England and Wales No. 1072216 and Scotland No. SC040577. It provides support services for people of all ages with spinal cord injury. Services include wheelchair skills training, activity courses, mentoring and support to get back to work or school after an injury. Group details last reviewed September 2023.
If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also browse our range of parent guides on aspects of caring for a disabled child in our resource library. To meet other parents see support groups below or meet other parents online in our closed Facebook group Please see below for reliable medical information on Spina Bifida produced by alternative providers. NHS websitewww.nhs.uk/conditions Although alternative links have been selected with great care, Contact cannot accept responsibility for any inaccuracies or errors. Alternative information providers give details of their quality control procedures on their website, which includes review of information by a qualified medical professional. Is there support? Shine Tel: 01733 555 988Email: firstcontact@shinecharity.org.ukWebsite: shinecharity.org.uk The Association is a Registered Charity in England and Wales No. 249338. It provides information and support to individuals with hydrocephalus and/or spina bifida and their families and carers. It offers specialist services and has regional teams across England, Wales and Northern Ireland. Group details last reviewed June 2023 Spina Bifida Hydrocephalus Scotland Helpline: 03455 211 300Email: mail@sbhscotland.org.uk Website: sbhscotland.org.uk The Association is a Registered Charity in Scotland No. SC013328. It provides information and support to anyone affected by spina bifida, hydrocephalus and related conditions. They offer a Family Support Service which includes intensive support for families with new born babies. Group details reviewed September 2022.
Is there support? Shine Tel: 01733 555 988Email: firstcontact@shinecharity.org.ukWebsite: shinecharity.org.uk The Association is a Registered Charity in England and Wales No. 249338. It provides information and support to individuals with hydrocephalus and/or spina bifida and their families and carers. It offers specialist services and has regional teams across England, Wales and Northern Ireland. Group details last reviewed June 2023 Spina Bifida Hydrocephalus Scotland Helpline: 03455 211 300Email: mail@sbhscotland.org.uk Website: sbhscotland.org.uk The Association is a Registered Charity in Scotland No. SC013328. It provides information and support to anyone affected by spina bifida, hydrocephalus and related conditions. They offer a Family Support Service which includes intensive support for families with new born babies. Group details reviewed September 2022.
Is there support? Shine Tel: 01733 555 988Email: firstcontact@shinecharity.org.ukWebsite: shinecharity.org.uk The Association is a Registered Charity in England and Wales No. 249338. It provides information and support to individuals with hydrocephalus and/or spina bifida and their families and carers. It offers specialist services and has regional teams across England, Wales and Northern Ireland. Group details last reviewed June 2023 Spina Bifida Hydrocephalus Scotland Helpline: 03455 211 300Email: mail@sbhscotland.org.uk Website: sbhscotland.org.uk The Association is a Registered Charity in Scotland No. SC013328. It provides information and support to anyone affected by spina bifida, hydrocephalus and related conditions. They offer a Family Support Service which includes intensive support for families with new born babies. Group details reviewed September 2022.
Background Children with speech and language impairment or speech, language and communication needs (SLCN) find it difficult to communicate with others. Speech refers to the ability to articulate the sounds that make up language (eg ‘b’, ‘w’, ‘sh’) clearly. Language is about understanding and using words to make sentences and bigger chunks of language. Communication refers to the appropriate use of language and nonverbal aspects to help interaction between people. Children with SLCN form one of the largest groups of those with special educational needs (SEN), as SLCN is associated with several other types of SEN, eg hearing impairment. Specific language impairment or SLI is a type of SLCN. Children with SLI are able and healthy as other children, but they have difficulty talking and understanding language. SLI is also known as primary speech and/or language impairment. If children have SLCN as a result of another condition such as learning difficulty or physical problems such as hearing loss (see entry Deafness), this is known as secondary speech and/or language impairment. Credits Medical text written November 2012 by Professor Geoff Lindsay. Last updated April 2016, by Professor Geoff Lindsay, Director, Centre for Educational Development, Appraisal and Research (CEDAR) University of Warwick, Coventry, UK. What are the symptoms A child with speech, language and communication needs (SLCN) may: have speech that is difficult to understand struggle to say words or sentences not understand words that are being used, or the instructions they hear have difficulties knowing how to talk and listen to others in a conversation. A child with specific language impairment (SLI) may: have difficulty saying what they want to, even though they have ideas talk in sentences but be difficult to understand sound muddled find it difficult to understand words and long instructions have difficulty finding the words they want to say find it hard to join in and follow what is going on in group situations. Very often children with SLI have difficulty learning to read and spell. They are also more likely to have behavioural, emotional and social difficulties, mainly relationships with other children and emotional difficulties, and to a lesser extent conduct problems. What are the causes? Children might have SLCN for a whole range of reasons. For example it may be associated with a learning difficulty or physical difficulty. SLI fits under the broad heading of SLCN, but these children have very specific difficulties with language. They don’t have any underlying syndrome or physical problem that may make it difficult to learn how to communicate. How is it diagnosed? Significant SLCN will be apparent in the preschool period with identification by around age 2 years plus. Diagnosis may be by a speech and language therapist (SLT), but often the first person parents will contact will be the GP or early years’ staff if the child is attending early years provision. A community paediatrician may also be involved. Parents may be able to self refer for assessment of their child’s speech and language needs. How is it treated? Speech and language therapy is given to children and young people to enable them to reach their potential in terms of speech, language and communication. Speech and language therapy should be delivered by a trained SLT. Education staff are also important, both in early years settings and schools, because addressing language difficulties also requires educational interventions. Ideally, SLTs and education staff should work collaboratively as their different expertise is complementary. Inheritance patterns and prenatal diagnosis Inheritance patternsPatterns of inheritance for SLI are not known. Patterns of inheritance for secondary speech and/or language impairment will be based on the inheritance of that particular condition. Affected families should be referred to a genetics service for further support and information. Prenatal diagnosisThis will be possible when the secondary difficulty is associated with a specific disorder for which prenatal diagnosis has been developed. Is there support? Afasic Helpline: 0300 666 9410Email: via websiteWebsite: afasic.org.uk The Organisation is a Registered Charity in England and Wales No. 1045617. It provides information, support and training for parents of children and young people with speech and language impairments. Members meet in local groups in many areas of the UK. Group details last reviewed May 2023. Speech and Language UK Tel: 020 7843 2510Email: info@speechandlanguage.org.ukWebsite: speechandlanguage.org.uk Speech and Language UK is a registered charity in England and Wales No. 210031. THey support children from 0-19 through their Talk programmes and two specialist schools. They provide resources and information for parents, families and people who work with children and young people through their Enquiry Service. Speech and Language UK work in nurseries and schools across the UK with evidence-based programmes and run two special schools for children with the most severe and complex needs. Group details last updated May 2023.
What are the symptoms A child with speech, language and communication needs (SLCN) may: have speech that is difficult to understand struggle to say words or sentences not understand words that are being used, or the instructions they hear have difficulties knowing how to talk and listen to others in a conversation. A child with specific language impairment (SLI) may: have difficulty saying what they want to, even though they have ideas talk in sentences but be difficult to understand sound muddled find it difficult to understand words and long instructions have difficulty finding the words they want to say find it hard to join in and follow what is going on in group situations. Very often children with SLI have difficulty learning to read and spell. They are also more likely to have behavioural, emotional and social difficulties, mainly relationships with other children and emotional difficulties, and to a lesser extent conduct problems. What are the causes? Children might have SLCN for a whole range of reasons. For example it may be associated with a learning difficulty or physical difficulty. SLI fits under the broad heading of SLCN, but these children have very specific difficulties with language. They don’t have any underlying syndrome or physical problem that may make it difficult to learn how to communicate. How is it diagnosed? Significant SLCN will be apparent in the preschool period with identification by around age 2 years plus. Diagnosis may be by a speech and language therapist (SLT), but often the first person parents will contact will be the GP or early years’ staff if the child is attending early years provision. A community paediatrician may also be involved. Parents may be able to self refer for assessment of their child’s speech and language needs. How is it treated? Speech and language therapy is given to children and young people to enable them to reach their potential in terms of speech, language and communication. Speech and language therapy should be delivered by a trained SLT. Education staff are also important, both in early years settings and schools, because addressing language difficulties also requires educational interventions. Ideally, SLTs and education staff should work collaboratively as their different expertise is complementary. Inheritance patterns and prenatal diagnosis Inheritance patternsPatterns of inheritance for SLI are not known. Patterns of inheritance for secondary speech and/or language impairment will be based on the inheritance of that particular condition. Affected families should be referred to a genetics service for further support and information. Prenatal diagnosisThis will be possible when the secondary difficulty is associated with a specific disorder for which prenatal diagnosis has been developed. Is there support? Afasic Helpline: 0300 666 9410Email: via websiteWebsite: afasic.org.uk The Organisation is a Registered Charity in England and Wales No. 1045617. It provides information, support and training for parents of children and young people with speech and language impairments. Members meet in local groups in many areas of the UK. Group details last reviewed May 2023. Speech and Language UK Tel: 020 7843 2510Email: info@speechandlanguage.org.ukWebsite: speechandlanguage.org.uk Speech and Language UK is a registered charity in England and Wales No. 210031. THey support children from 0-19 through their Talk programmes and two specialist schools. They provide resources and information for parents, families and people who work with children and young people through their Enquiry Service. Speech and Language UK work in nurseries and schools across the UK with evidence-based programmes and run two special schools for children with the most severe and complex needs. Group details last updated May 2023.
What are the symptoms A child with speech, language and communication needs (SLCN) may: have speech that is difficult to understand struggle to say words or sentences not understand words that are being used, or the instructions they hear have difficulties knowing how to talk and listen to others in a conversation. A child with specific language impairment (SLI) may: have difficulty saying what they want to, even though they have ideas talk in sentences but be difficult to understand sound muddled find it difficult to understand words and long instructions have difficulty finding the words they want to say find it hard to join in and follow what is going on in group situations. Very often children with SLI have difficulty learning to read and spell. They are also more likely to have behavioural, emotional and social difficulties, mainly relationships with other children and emotional difficulties, and to a lesser extent conduct problems.
What are the causes? Children might have SLCN for a whole range of reasons. For example it may be associated with a learning difficulty or physical difficulty. SLI fits under the broad heading of SLCN, but these children have very specific difficulties with language. They don’t have any underlying syndrome or physical problem that may make it difficult to learn how to communicate.
How is it diagnosed? Significant SLCN will be apparent in the preschool period with identification by around age 2 years plus. Diagnosis may be by a speech and language therapist (SLT), but often the first person parents will contact will be the GP or early years’ staff if the child is attending early years provision. A community paediatrician may also be involved. Parents may be able to self refer for assessment of their child’s speech and language needs.
How is it treated? Speech and language therapy is given to children and young people to enable them to reach their potential in terms of speech, language and communication. Speech and language therapy should be delivered by a trained SLT. Education staff are also important, both in early years settings and schools, because addressing language difficulties also requires educational interventions. Ideally, SLTs and education staff should work collaboratively as their different expertise is complementary.
Inheritance patterns and prenatal diagnosis Inheritance patternsPatterns of inheritance for SLI are not known. Patterns of inheritance for secondary speech and/or language impairment will be based on the inheritance of that particular condition. Affected families should be referred to a genetics service for further support and information. Prenatal diagnosisThis will be possible when the secondary difficulty is associated with a specific disorder for which prenatal diagnosis has been developed.
Is there support? Afasic Helpline: 0300 666 9410Email: via websiteWebsite: afasic.org.uk The Organisation is a Registered Charity in England and Wales No. 1045617. It provides information, support and training for parents of children and young people with speech and language impairments. Members meet in local groups in many areas of the UK. Group details last reviewed May 2023. Speech and Language UK Tel: 020 7843 2510Email: info@speechandlanguage.org.ukWebsite: speechandlanguage.org.uk Speech and Language UK is a registered charity in England and Wales No. 210031. THey support children from 0-19 through their Talk programmes and two specialist schools. They provide resources and information for parents, families and people who work with children and young people through their Enquiry Service. Speech and Language UK work in nurseries and schools across the UK with evidence-based programmes and run two special schools for children with the most severe and complex needs. Group details last updated May 2023.