Condition AZ: d

Dystonia UK (The Dystonia Society)

Tel: 020 7793 3651
Email: info@dystonia.org.uk
Website: dystonia.org.uk

Dystonia UK is a National Registered Charity No. 1062595. It provides information, support and advocacy for anyone affected by dystonia. They runs support groups and information events across the UK.

Group details last reviewed March 2024.

Families can use Contact’s freephone helpline for advice and information. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

Dyslexia Scotland

Tel: 0344 800 8484
Email: helpline@dyslexiascotland.org.uk
Website: dyslexiascotland.org.uk

The Organisation is a Registered Charity in Scotland No. SC000951, established in 1968. It offers advice, information and support to people with dyslexia and operates a national tutor list. The Organisation conducts screening tests for both children and adults and workplace assessments. It organises workshops, conferences and seminars to raise awareness of dyslexia and has information available.

Group details last reviewed March 2023.

British Dyslexia Association

Helpline: 0333 405 4555
Email: via website
Website: bdadyslexia.org.uk

The Association is a Registered Charity in England and Wales No. 289243. It provides information and support to dyslexic people and their carers and professionals. The Association encourages schools to work towards becoming dyslexia-friendly.

Group details last updated March 2023

Children with the condition often have fingernails and toenails that grow poorly or are abnormally shaped. They also often have changes in skin colouring (pigmentation), especially on the neck and chest. White patches inside the mouth (oral leukoplakia) is another well-known characteristic of dyskeratosis congenita.

People with dyskeratosis congenita are especially vulnerable to impairment of bone marrow function (bone marrow failure). As the main function of the bone marrow is to produce new blood cells, affected individuals may develop aplastic anaemia (when the bone marrow does not produce enough new blood cells). They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally and which may progress to a form of blood cancer called leukaemia. People with dyskeratosis congenita are also at increased risk of developing leukaemia in the absence of myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus or genitals.

People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream.

In around 70 per cent of those affected, the condition is caused by mutations in the DKC1, TERC, TERT, NOP10, NHP2, TINF2, USB1, TCAB1, CTC1, RTEL1, ACD (TPP1), PARN and NAF1 genes. Twelve of these genes provide instructions for making proteins that help maintain telomeres, which are structures found at the ends of chromosomes and prevent genetic material being lost from the end of chromosomes. The genetic defects are not known in around 30 per cent of cases.

The condition will be suspected based on clinical features a person presents with. If the mutation(s) causing the condition is in one of the twelve known genes, then molecular testing (testing of DNA to look for the mutation) will confirm the diagnosis.

There is no cure for dyskeratosis congenita, treatment will aim to reduce the symptoms. Patients who develop abnormalities in their bone marrow are at risk of life-threatening infections and bleeding. Approximately 70 per cent of patients respond (obtain a good haematological response) to the drugs danazol and oxymetholone. If the bone marrow failure is severe and there is a compatible bone marrow donor, treatment by bone marrow transplantation is possible.

Inheritance patterns
Inheritance can be X-linked recessive (DKC1), autosomal dominant (TERC, TERT, TINF2, RTEL1 and NAF1) and autosomal recessive (NOP10, NHP2, TERT, USB1, TCAB1, CTC1, RTEL1, ACD and PARN). In approximately 30 per cent of patients the genetic basis remains unknown. In some cases the mutation is a new mutation (de novo) and it is not inherited; this is usually the case for TINF2 mutations.

Prenatal diagnosis
Molecular (DNA) testing can be carried out during pregnancy if the mutation in a family is known. It is available in the UK as part of the Dyskeratosis Congenita Registry at Barts and The London School of Medicine and Dentistry, London, UK.

The Gary Woodward Dyskeratosis Congenita Trust

Email:enquiries@dyskeratosiscongenita.org.uk
Website: dyskeratosiscongenita.org.uk

The Trust is a Registered Charity in England No. 1113617. It provides information and support to those affected by dyskeratosis congenita.

Group details last updated July 2018.

In DMD, the first signs of muscle weakness typically occur before the age of four years. Rising from the floor, walking, running, jumping and climbing stairs are difficult. If untreated, most boys lose the ability to walk by ten years of age and need to use a wheelchair. This is due to a combination of muscle weakness and contractures (tightness of muscle affecting joint movement) in the ankles, knees and hips. Boys in a wheelchair are at high risk of developing spinal curvature, which can eventually develop into scoliosis. Some boys with DMD may have learning or behavioural difficulties (see entry Learning Disability).

Over time, the heart and respiratory muscles are also affected and this becomes a clinical problem usually in the teenage years. Sometimes there is respiratory failure, which is often demonstrated by difficulty breathing at night.

If untreated, limbs, breathing and heart muscle weakness become severe and this limits life expectancy.

Cardiomyopathy can develop in individuals with DMD, usually after ten years of age. It is recommended that an echocardiogram (heart ultrasound scan) be done every two years till age ten years, and then yearly after so any abnormality can be detected and treated.

A high level of the enzyme creatine kinase (CK) can indicate DMD. Further confirmatory testing in a family where there are no other cases of DMD, will involve muscle biopsy to assess muscle structure. Genetic testing is undertaken to offer confirmation of the mutation causing the condition.

To date, there is no cure for DMD. Treatment to help reduce the symptoms improves quality of life and prolongs survival.

To prevent the progression of DMD treatment with glucocorticosteroids (a type of steroid), is routine. This treatment can help retain movement, prevent respiratory failure and delay scoliosis.

A regular programme of physiotherapy is essential to reduce contractures and promote mobility. Bracing can reduce scoliosis, but very often spinal surgery is required if the curvature gets worse. Facial or nasal mask ventilation may be used to assist with night-time breathing.

Inheritance patterns
DMD usually occurs as the result of a sporadic mutation. In some cases the mother of the affected child is a carrier of the condition. Mothers of children with DMD should be offered genetic counselling and a test to find out whether they are carrier for the DMD mutation.

Prenatal diagnosis
Prenatal testing is available via amniocentesis after 15 weeks of pregnancy or chorionic villus sampling between 10 and 13 weeks of pregnancy.

Action Duchenne

Tel: 020 8556 9955
Email: info@actionduchenne.org
Website: actionduchenne.org

The Group is a Registered Charity in England and Wales No. 1101971. It provides information and support for families with a child with Duchenne Muscular Dystrophy. Action Duchenne funds research, campaigns for the best standards of care to be made available for all living with Duchenne, and runs education and transition projects for young people.

Group details last updated January 2016.

Duchenne Family Support Group

Helpline: 0800 121 4518 
Email: info@dfsg.org.uk
Website: dfsg.org.uk

The Group is a Registered Charity in England and Wales No. 1128653. It provides information and support for families with children diagnosed with Duchenne Muscular Dystrophy. The Group offers holidays and events to bring families together for mutual support and to share information and experiences.

Group details last updated January 2016.

Support for Duchenne muscular dystrophy is also available from the Muscular Dystrophy Campaign (see entry Congenital Muscular Dystrophy).

Some degree of intellectual impairment is usually present in individuals with Dubowitz syndrome. Levels range from profound learning difficulties to normal ability. Characteristic behaviour patterns include hyperactivity, shyness and stubbornness. There is anecdotal evidence of an association between autism (see entry Autism spectrum conditions) and Dubowitz syndrome. However, no formal psychological studies have been undertaken to confirm or refute this association.

Individuals with Dubowitz syndrome have normally proportioned bodies although they may be shorter than average for their age. Babies born with a normal weight are commonly severely delayed in their growth.

A characteristic facial appearance is probably the most typical feature of Dubowitz syndrome. The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.

A range of other features associated with Dubowitz syndrome may include eczema, frequent infections (primarily viral), allergies, vomiting, and chronic diarrhoea or constipation.

Inheritance patterns
Dubowitz syndrome is inherited as an autosomal recessive trait. However, the gene or genes associated with the clinical features of this condition have not yet been identified. There is currently no genetic or biochemical test to confirm a diagnosis of Dubowitz syndrome.

Prenatal diagnosis
None available.

There is no support group for Dubowitz syndrome in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Dubowitz syndrome.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect to other families via our closed Facebook group

There is no support group for duane retraction syndrome in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

The early seizures in the first year consist of clonic (jerking) movements, which often affect one side of the body and are prolonged. A total of 75 per cent of seizures are provoked by fever and this may follow immunisation, which is regarded as a non-specific trigger. Development during the first year of life is usually normal, but following this a range of seizures appear which include:

• myoclonic jerks, single or multiple muscle jerks, which may involve one part of the body or the whole body
• atypical absences with brief loss of awareness
• partial seizures, which may involve loss of awareness
• non-convulsive status where the child develops a groggy, poorly functional state.

Sometime from the second year developmental slowing or regression occurs, which is often but not invariably severe. Features of autism (see entry Autism Spectrum conditions) and attention deficit hyperactivity disorder are common.

A movement problem of the legs commonly appears with signs of spasticity (muscle tightness) and unsteadiness.

Mild variants of this condition are occasionally seen.

About 80 per cent of patients with Dravet syndrome have various mutations in a sodium channel gene, SCN1A, and in rare cases a GABA gene defect is found (GABRG2).

The diagnosis of Dravet syndrome is essentially clinical, based upon the evolution of typical seizures and developmental regression. The presence of the gene defect is strongly supportive evidence but not required for diagnosis and can be associated with other types of epilepsy including generalised epilepsy with febrile seizures plus (GEFS+).

Anti-epileptic drugs are used but often not effective. Stiripentol has been advocated, usually combined with a benzodiazepine and/or sodium valproate. Comprehensive assessment and provision is required for the multiple impairments associated with Dravet syndrome.

Inheritance patterns
Familial occurrence is rare and most are due to a new mutation.

Prenatal diagnosis
This can only be discussed in rare familial situations.

Dravet Syndrome UK

Tel: 08443 321 008
Email: info@dravet.org.uk
Website: dravet.org.uk

The Group in a Registered Charity in England and Wales No. 1128289. It provides emotional, practical and financial support for families affected by Dravet Syndrome. The Group funds medical research into Dravet Syndrome and other related genetic sodium channel epilepsies, and raises awareness and understanding of the condition within the professional community.

Group details last updated October 2015.

References

Caraballo RH. Fejerman N. Dravet syndrome: a study of 53 patients. Epilepsy Research. 2006;70:231-38.

Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy (Dravet syndrome). In Roger J, Bureau M, Dravet CH, et al (Eds) Epileptic syndromes in infancy, childhood and adolescence (3rd edition). 2002; John Libbey: London, UK (p 81-103).

Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am J Genet. 2001;68:866-73.

Gennaro E. Veggiotti P. Malacarne M, et al. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord. 2003;5:21-5.

Hurst DL. Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia 1990;31:397-400.

Incorpora G. Dravet syndrome. Ital J Pedriatr. 2009;35:27.

Scheffer IE. Severe infantile epilepsies: molecular genetics challenge clinical classification. Brain. 2003;126:513-4.

Wiznitzer M. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurology. 2010;9:559-61.

The ways and severity that individuals with DTD are affected vary. The features of DTD include:

• shortening of the limbs but with a normal sized skull. The average height of adults is 118cm (for males it is: 86 to 127cm; and for females 104 to 122cm)
• small chest
• cleft palate in about 33 per cent of cases (see entry Cleft Lip and/or Palate)
• swelling of the ears giving a ‘cauliflower’ appearance
• joint contractures – progressive lack of mobility of joint due to changes in the soft tissues
• shortening of the bones of the hands including hitchhiker thumbs (short bones cause the thumb to take up the typical hitchhiker position)
• club feet (see entry Congenital Talipes Equinovarus), varying from mild-to-severe due to bone abnormalities
• progressive scoliosis (sideways curvature of the spine), lumbar lordosis (forward curvature of the lower spine) and cervical kyphosis (outward curvature of the upper spine)
• Breathing complications can occur in infancy and in some cases can be life-threatening.

DTD is a genetic condition. It is caused bya change in the DNA (a mutation) on the SLC26A2 (DTDST) gene on chromosome 5.

DTD is diagnosed by recognition of the clinical features of the condition, such as short stature, club foot and scoliosis and by assessment of X-rays. Molecular testing (testing DNA) of the SLC26A2 gene can confirm the diagnosis if the mutation known to cause DTD is found.

Treatment for DTD will help to relieve symptoms for specific features; there is no cure. It is important to maintain joint positioning and mobility as much as possible using physiotherapy and surgery to correct club feet to allow walking. Ideally, this should be performed by a surgeon with experience of other children with DTD.

Monitoring of abnormalities of the bones of the limbs and, particularly of the spine, is important since surgical treatment may be needed to correct problems. Progressive abnormality of the bones of the spine in the neck is an important complication and should be looked for specifically. This may also require surgical treatment. Surgery to release joint contracture is not usually recommended since these tend to recur.

A range of support for families is available. Sometimes psychological and practical support is needed by somebody affected by DTD to deal with their short stature. Families can obtain information about aids to help with difficulties in access and operation of equipment from local and national statutory and support organisations.

Inheritance patterns
DTD is inherited in autosomal recessive manner. Affected families should be referred to a genetics centre for information and support.

Prenatal diagnosis
Where DTD is known in a family and the mutations in the SLC26A2 gene are known, chorionic villus sampling can be used at about 10 to 12 weeks or amniocentesis at about 15 to 18 weeks. Ultrasound examination may identify some abnormalities of the skeleton.

Information and support in the UK for diastrophic dysplasia is provided by the Restricted Growth Association (see entry Restricted Growth).

Because of the hole, the bowel can go up through the diaphragm into the chest. This squashes the heart and both lungs. While in the womb, the placenta provides the oxygen for the baby, who will grow normally. However, the lungs may not develop normally, depending on how squashed they are and how long the bowel is in the chest. In some babies, the bowel only goes into the chest at delivery and so the lungs are normal. Other babies have lungs which are so poorly developed that the baby cannot survive. Most affected babies are in between and have a degree of breathing difficulty.

Up to 50 per cent of babies with CDH have major associated problems, either with their heart, spinal cord, brain or with their chromosomes (see entry Chromosome disorders). These problems may mean the baby cannot survive.

Long-term problems
Some babies have no problems following discharge. Up to 80 per cent have problems with gastro-oesophageal reflux of the stomach’s acidic contents, as a normal diaphragm is important in helping to prevent reflux. Some babies require further surgery to treat this. A few babies develop a neurological handicap, because of lack of inadequate ventilation by the underdeveloped lungs after birth.

CDH occurs due to a failure of the parts of the diaphragm to come together and fuse properly during fetal development, allowing the abdominal organs to migrate up into the chest cavity. No single cause for this has been found, though some poisons and toxic chemicals can produce CDH in the laboratory.

Most babies with CDH are diagnosed before birth on routine scan. If termination is considered, then amniocentesis for chromosomal abnormality should be done, together with a detailed anomaly scan. Polyhydramnios (excess fluid around the baby) and the presence of the stomach and liver in the chest indicate a poorer outcome for the baby. If there are no associated abnormalities, continuation to end of pregnancy is often recommended, as there is a 50 to 60 per cent chance of the baby’s lungs being adequate.

Most UK units stabilise the baby in intensive care on a ventilator (to help them breathe), so that the lungs and heart can be assessed. The baby is often kept in the unit for several days until the optimal moment for surgical repair is reached.

Most surgeons repair the hole in the diaphragm via the abdomen. If there is enough diaphragm, the two edges of the hole are stitched together. If not, then a patch has to be inserted. Depending on the material used for the patch, this may not grow and may need replacement. Post-operatively, the baby will be more ill than before, because of the stress of the operation. After several days, or even weeks, if the lungs are good enough, then the baby can be weaned off the ventilator and will go home. Some babies go home with extra oxygen to breathe for a while, but as the lungs continue to grow after birth, this is eventually no longer required.

Despite a lot of research, there has been almost no success with prenatal surgery, as the potential advantages of taking the bowel out of the chest to allow lung growth are outweighted by the disadvantages of premature delivery.

Inheritance patterns
There is a recurrence risk of two per cent based on an incidence of 1 in 2,000 to 1 in 5,000 live births. This means that 98 per cent of families will not have a second baby with a CDH.

Prenatal diagnosis
Routine ultrasound at 18 weeks can reveal CDH. Prenatal diagnosis allows transfer of the mother for assessment and delivery at a regional centre. The baby can then be electively delivered, resuscitated and undergo surgery, by a fully prepared team of neonatologists and surgeons.

CDH UK

Tel: 0800 731 6991
Email: support@cdhuk.org.uk
Website: cdhuk.org.uk

The Group is a Registered Charity in England and Wales No. 1106065, and Scotland No. SC042410. It provides information and support to anyone affected by Congenital Diaphragmatic Hernia.

Group details last updated December 2014.

Some children with DBA may show physical features such as an extra thumb joint, cleft palate (see entry Cleft Lip and/or Palate) and or a characteristic facial appearance. Many affected children are very short for their age, and may have delayed puberty. Children with DBA otherwise develop normally, and it is unusual for affected children to have learning difficulties.

The anaemia is caused by a failure of the bone marrow to produce red blood cells (‘red cell aplasia’). The exact cause is not clear, but the problem seems to be a fault in one of the early steps of red blood cell production. In up to 25 per cent of affected children there is a fault within a gene called small ribosomal protein 19, or RPS19. Mutations in other parts of the genes which code for ribosomes have more recently been discovered in a further 25 per cent of cases. Ribosomes are very important in helping the cell to function properly. These mutations interfere with the working of the cell, stopping the red cells from being produced.

Infection with a particular virus (parvovirus) can cause a switch off of red blood cell production. Nearly always this lasts for such a short time that it goes unnoticed, but infection during pregnancy can sometimes cause severe anaemia in the baby. There is also a condition known as ‘transient erythroblastopenia of childhood’ in which red cell production is temporarily switched off, usually following a viral infection. This is rare in babies, being most common in toddlers and pre-school children. This gets better on its own within a few months, and can sometimes be difficult to tell apart from DBA, except by waiting to see if the anaemia improves on its own.

The diagnosis is easy if there is already an affected child within the family, or the baby has a physical feature of DBA. Otherwise, it is a matter of confirming that the problem lies in a red blood cell production failure, and then to exclude parvovirus infection. Preliminary blood tests will show if too few red blood cells are being produced. The next step is for a small sample of bone marrow to be taken, to confirm that the anaemia is caused by production failure.

Treatment for DBA can be with medication (steroids), blood transfusion or bone marrow transplantation. If an unaffected sibling is identified ideally prenatally (when in the womb) cord blood, which is a rich source of bone marrow stem cells, can be transplanted to the affected child. These stem cells, which are collected from the placenta after birth, are able to form bone marrow cells thus correcting the problem with red blood cell production. Further understanding of the cause of DBA is likely to change treatments in the future with more targeted treatment.

Inheritance patterns
In most cases DBA occurs sporadically. In subsequent generations the pattern of inheritance is typically autosomal dominant, although there may be variable severity within the family.

Prenatal diagnosis
Prenatal diagnosis is currently only possible if there is a known mutation, as DBA is usually clinically silent until early infancy.

DBA UK (Diamond Blackfan Anaemia Support Group)

Tel: 0845 094 1548
Email: information@diamondblackfan.org.uk
Website: diamondblackfan.org.uk

The Group is a Registered Charity in England and Wales No. 1083179. It provides information and support to the DBA community in the UK by bringing families together, communicating the latest medical information and funding research into causes and cures. The Group holds an annual family weekend. 

Group details last updated January 2016.

Diabetes UK

Helpline: 0345 123 2399
Email: info@diabetes.org.uk
Website: diabetes.org.uk

The Organisation is a Registered Charity in England and Wales No. 215199.  It provides information and support for people with diabetes, their carers and health care professionals, and has local support groups across the UK. The charity produces specific information and webpages for parents, children and teenagers.

Group details last reviewed March 2023.

UK Children With Diabetes Advocacy Group

Website: childrenwithdiabetesuk.org

The Group was established in 2007. It campaigns with other leading diabetes organisations to raise awareness of the needs of families and children with diabetes. The Group provides information and support, online forums and runs an annual family event and conference and links families where possible.

Group details last reviewed March 2023.

• Neonatal diabetes – diabetes is diagnosed before six months of age.
• Familial diabetes – (also known as maturity onset diabetes of the young or MODY).

Neonatal diabetes
This type of diabetes is diagnosed within the first six months of life. It may last for a short time then resolve but return again, typically during the teenage years, or be permanent. The features of the condition include low birth weight, undetectable pancreatic autoantibodies (proteins made by the immune system which attacks the body’s own tissue) and marked hyperglycaemia (high levels of glucose in the blood) at diagnosis.

Around 50 to 60 per cent of those with permanent neonatal diabetes have been identified with changes in one of the potassium channel genes (Kir6.2 or SUR1), which affects insulin production. Ninety per cent of these patients have been able to stop insulin treatment and transfer to high doses of sulphonylurea tablets which enables their body to secrete their own insulin and therefore better control the glucose level in their blood. Twenty per cent of patients with changes in Kir6.2 or SUR1 also have neurological features such as delayed development (see entry Global Developmental Delay) and epilepsy which is associated with their diabetes.

Familial diabetes (MODY)
MODY is passed down from an affected member in one generation to the next (it is inherited). The change in the gene is inherited from an affected parent, therefore diabetes is present in two or more generations. Each child has a 50 per cent chance of inheriting the affected gene from their parent with MODY and if they inherit the affected gene their lifetime risk of developing diabetes is greater than 99 per cent. Familial diabetes is typically diagnosed before 25 years of age in at least one family member. People with MODY continue to make insulin of their own, but due to the young age of diagnosis are often mistaken to have Type 1 diabetes and unnecessary started on insulin.

HNF1A
HNF1A accounts for 60 per cent of UK MODY. Additional features include a low level at which the kidneys allow glucose into the urine (renal threshold) and sulphonylurea sensitivity. Patients with HNF1A diabetes are known to be particularly sensitive to tablets called sulphonylureas, which help the body produce more insulin and this is considered the most appropriate form of treatment for this group. Annual screening for complications is advisable. HNF1A diabetes is progressive, gets worse over time, and although HNF1A diabetes can often be managed with sulphonylurea tablets for many years, the addition of insulin may be required in middle/later life.

HNF4A
HNF4A is rarer than HNF1A, but has similar features although age of diagnosis of diabetes may be later. Those affected tend to have high birth weight (above 4kg/9lb) and may have low blood glucose shortly after birth, which may require treatment. Patients with HNF4A can also be managed on sulphonylurea tablets for many years.

GCK
GCK accounts for 22 per cent of UK MODY. It is characterised by mild, stable raised blood glucose throughout life. The condition is often detected by routine screening. No treatment is required and complications are rare.

HNF1B
In HNF1B MODY, renal (kidney) cysts (or other kidney problems) are often present and may be detected during antenatal ultrasound. Gout can also occur. Diabetes may become apparent after the renal problems. This condition usually requires treatment with insulin.

Diagnostic genetic testing for patients thought to have monogenic diabetes is available at the Royal Devon and Exeter Hospital which is the UK referral centre for monogenic diabetes. This may confirm the diagnosis and the specific subtype which allows specific decisions regarding treatment to be made, such as the use of a sulphonylurea in those with HNF1A. It also allows guidelines to be given about the likely clinical course of the diabetes.

In families where monogenic diabetes has been confirmed by genetic testing, a predictive genetic test may be offered to those family members who have shown no signs of diabetes. This would reveal whether they have inherited normal copies of the gene and have the same chance of developing diabetes as the general population or whether they have inherited an affected gene, and therefore will go on to develop diabetes.

Further information regarding monogenic diabetes and genetic testing may be obtained from diabetesgenes.org, which is run by the Department of Diabetes and the Centre for Molecular Genetics at the University of Exeter Medical School and Royal Devon and Exeter NHS Foundation Trust Hospital, Exeter, UK.

Inheritance patterns
Affected families should seek advice and support from a genetic centre who can give individualised information.

Prenatal diagnosis
This may be possible. Affected families should seek individual advice.

Information and support in the UK for monogenic diabetes is provided by Diabetes UK (see entry Diabetes Mellitus).

The onset of the condition may be sudden but usually develops over a longer period of time. Lethargy (tiredness) is often the first sign and young children may become miserable or irritable. Children may have a rash, often on the knuckles, hands, face and other parts of the body, including elbows, knees or ears. Sometimes the skin can break down causing ulcers or calcium can get deposited under the child’s skin. They may start to have difficulty doing things like climbing stairs or getting up from a sitting position due to muscle weakness. They may also have fever, joint pain, tummy ache and headaches.

We do not know the exact cause but we think that these diseases are due to inflammation (redness / soreness) of the muscle and small blood vessels caused by cells of the immune system. We think that the immune system is triggered by infection or environmental factors (like sunlight) in people who carry genes that make them more prone to getting an autoimmune disease.

Doctors use a combination of symptoms (the things you tell us), examination (the things we see) and results of tests (such as blood tests and scans) to diagnose JDM / JPM. Electromyography (tests the electrical activity of nerves and muscles) and muscle biopsy may be used to help diagnosis or rule out other conditions.

The progress of the disease is unpredictable and may include relapses (where symptoms appear to get better but reappear later). However, most children with JDM / JPM respond well to treatment, which usually includes steroids and other medications such as methotrexate, which work by reducing the activity of the immune system. Children also need physiotherapy and an exercise programme to help them regain strength in their muscles. Ideally children are looked after by a team of specialists who are used to caring for children with JDM/JPM.

Inheritance patterns
Some research has shown that certain parts of our genetic make-up may make these conditions slightly more likely. However, these diseases are not ‘inherited’ and it is very rare to have two people with myositis in one family. JDM and JPM are more common in girls than boys.

Prenatal diagnosis
These conditions are extremely rare under one year and are not diagnosed before birth.

Myositis UK

Tel: 023 8044 9708
Email: msg@myositis.org.uk
Website: myositis.org.uk

The Organisation is a National Registered Charity No. 327791. It provides information and support to individuals and their families affected by Dermatomyositis, Polymyositis, Inclusion Body Myositis and Juvenile Dermatomyositis. The Organisation holds an annual conference which is free for members, and has four Facebook groups. 

Group details last updated December 2016.

UK Juvenile Dermatomyositis Research Group

Email: info@jdrg.org.uk
Website: juveniledermatomyositis.org.uk

This website provides information for families and patients as well as information on research going on in the UK

Group details confirmed December 2016.

The symptoms of depression in children and young people include changes in mood, thinking and behaviour. The key symptoms are:

• persistent sadness or low (irritable) mood
• loss of interests and/or pleasure
• fatigue or low energy levels.

These core symptoms may also be accompanied by:

• change in sleeping patterns – poor or increased sleep
• agitation or slowing of movement
• change in eating habits – poor or increased appetite
• low self-confidence and indecisiveness
• feelings of guilt, self-blame or worthlessness
• lack of concentration leading to lower school performance
• self-harm and possible suicidal feelings
• withdrawal from communication with other children and young people.

Depression usually has multiple causes. Commonly, a child or young person who is more vulnerable to depression because of genetic and biological factors, and early adverse experiences, will have their depression ‘triggered’ by an adverse life event against a backdrop of more chronic social or psychological difficulties. This can help explain why when more than one child experiences a similar adverse event or lives in similar psychosocial circumstances, not all will develop depression.

Possible biological factors include changes in monoamine transmitter levels (a special type of chemical in the brain), and also changes in cortisol metabolism. Common psychosocial difficulties include, for example, family disharmony, divorce, separation, domestic violence, child abuse, and school difficulties such as bullying, academic problems and/or isolation. Typical triggers include life events such as the breakdown of an important relationship or bereavement.

A diagnosis will usually be made after a healthcare professional talks with the child or teenager both with and without his/her parents. Information from others such as a teacher who knows the child or teenager may be sought. Occasionally, a physical condition can lead to symptoms similar to those of depression. For this reason, a physical examination may be needed to eliminate conditions such as glandular fever, anaemia, breathing problems such as sleep apnoea or thyroid disorders. If a diagnosis of depression is made, it may be described as mild, moderate or severe according to the number of symptoms that are identified.

Treatment of depression in children and young people falls into two categories: psychological treatments (psychotherapy or counselling – talking treatments); and physical treatments (medication). Psychological treatments should be suggested first. For mild depression, referral to a specialist may not be necessary and the healthcare professional may advise ‘watchful waiting’ – monitoring the progress of the young person accompanied by sensible advice about diet, exercise and encouraging the child to take part in normal activities.

If there is no progress or if the depression is more severe, psychological treatments such as cognitive behaviour therapy and interpersonal therapy will be suggested. Other psychological treatments that may be suggested include family therapy and more intensive individual child psychotherapies. If psychological treatments are not bringing about improvement, or if the depression is more severe, then, in teenagers, antidepressant medication will be suggested (and considered even in children) in addition to the psychological treatment. Where medication is prescribed, children and young people should be monitored carefully in the first few weeks for adverse effects.

The National Institute for Health and Clinical Excellence (NICE) has produced guidelines on the treatment of depression in children and young people for healthcare professionals, children and young people themselves, parents and carers (see the NICE website).

Inheritance patterns
None.

Prenatal diagnosis
None.

Information and support in the UK for depression in children and young people is provided by Young Minds and the Scottish Mental Health Association (see entry Mental Health).

Systemic Degos disease affects a number of body systems:

• skin – pink or red papules (solid raised lesions) primarily on the trunk (mid part of body) and limbs, which heal to leave white scars
• gastrointestinal – abdominal pain, nausea, vomiting, diarrhoea or constipation and, in the later stages, intestinal perforation (small holes appearing in the intestine) and haemorrhage (bleeding from the intestine) may occur
• neurological – manifestations involve the peripheral (systems around the edge of the body) and central nervous systems leading to headaches, dizziness, seizures, hemiplegia (total or partial paralysis of one side of the body), aphasia, paraplegia (paralysis of the lower half of the body), and gaze palsy (partial or complete inability to move the eyes to all directions of gaze)
• ocular (eyes) – ptosis (drooping of the upper eyelid), optic neuritis (inflammation of optic nerves), diplopia (double vision) and visual field defects may occur.

Benign Degos disease usually only produces the typical skin lesions of the condition.

The disease is characterised by thrombosis (occlusion) of certain blood vessels (arteries). There are many different theories that have been postulated for the development of this condition. The most reasonable ones are problems with the blood clotting mechanism, a defect of the endothelium (inner wall) of the blood vessels and an autoimmune disorder.

Degos disease is usually diagnosed mainly clinically, since the lesions are rather characteristic and in most of the cases with skin biopsy; however, the histology of the disease is mostly inconsistent and not very specific. In case of involvement of the inner organs, endoscopy (an instrument for visualising the interior of a hollow organ) can help to visualise the lesions. Affected individuals need to be carefully monitored for symptoms of systemic Degos disease, which requires more intensive treatment.

Treatment is symptomatic (meaning that the symptoms are treated rather than the cause), although research continues to try to find effective drugs. Surgical intervention may be needed for gastrointestinal bleeding, gastrointestinal perforation, bowel infarction (death of tissue) or intracranial bleeding.

Inheritance patterns
Degos disease is familial (tending to occur in one or more members of a family). It has been suggested that it has autosomal dominant inheritance, but this has not been confirmed.

Prenatal diagnosis
Not applicable.

There is no support group for Degos disease in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.