Condition AZ: a

ARPKD is characterised by enlarged kidneys, which may or may not have cysts and hypertension (high blood pressure). A total of 30 to 50 per cent of babies with ARPKD die shortly after birth, mainly because of underdeveloped lungs. The outlook for babies that survive the first four weeks improves dramatically. Although reduced kidney function (renal impairment) can occur during the first four weeks of life, it is not usually a cause of death in this period.

A baby born with ARPKD may have the following problems:

• enlarged abdomen due to larger than normal kidneys – this may cause problems for a vaginal delivery
• unusual facial features, including deep-set eyes, a broad and flattened nose, small jaw and low-set ears
• deformities of the limbs due to fetal restriction and compression caused by lack of amniotic fluid
• general failure to thrive after birth.

Infants and children with ARPKD may have the following additional problems:

• polyuria (frequent passing of large quantities of dilute urine)
• polydipsia (excessive thirst)
• fluid balance problems
• prolonged fevers
• vomiting
• diarrhoea.

ARPKD is a genetic condition. In almost all children with the condition, it is possible to identify a mutation in a gene called PKHD1, which codes for a protein called fibrocystin.

Approximately 50 per cent of cases of ARPKD are diagnosed during pregnancy (prenatally) during an ultrasound. As early as 13 weeks of pregnancy, the kidneys appear ‘bright’ on a scan and may be enlarged. At 20 weeks of pregnancy, oligohydramnios (low or absent amniotic fluid) may be present indicating poor kidney function.

Oligohydramnios coupled with the large kidneys results in lung underdevelopment. Therefore, babies struggling to breathe in the first few weeks of life may need to be attached to a ventilator so they can get enough oxygen. Selective kidney removal, called a nephrectomy, can allow room for the lungs to expand in an infant, particularly where there is restricted movement of the diaphragm due to enlarged kidneys.

Hypertension is a major problem for those with ARPKD surviving beyond infancy. This can be effectively controlled with modern medicines, such as beta blockers.

Serious deterioration in kidney function will require dialysis treatment. This purifies the blood removing waste products in the absence of functioning kidneys. Dialysis for tiny babies is very difficult and only possible in highly specialised centres. Eventually a kidney transplant may be required.

Inheritance patterns
Autosomal recessive.

Prenatal diagnosis
Diagnosis may take place during prenatal ultrasound scanning from 13 weeks into pregnancy.

PKD Charity

Helpline: 0300 111 1234
Email: info@pkdcharity.org.uk
Website: pkdcharity.org.uk

The Organisation is a Registered Charity in England and Wales No. 1085662 and Scotland No. SC038279. It provides information and support to patients and families affected by polycystic kidney disease. The Organisation holds regular information days, and provides peer-to-peer support through a network of volunteers based at renal units around the UK.

Group details last updated September 2014.

Patients with suspected APD present with:

• difficulties with hearing and listening in noisy places
• understanding when listening (can also be due to a language processing disorder)
• mishearing and asking for repetition in spite of normal hearing tests
• poor academic performance
• difficulty understanding spoken messages and/or remembering instructions (can also be due to poor short-term memory)
• difficulty staying focused
• poor attention or day dreaming (can also be due to attention deficit or poor hearing)
• disruptive behaviour in class.

Many children with APD may have other co-existing language and learning difficulties such as:

• dyslexia
• attention deficit (AD) and/or attention deficit hyperactivity disorder (ADHD)
• speech and language impairment
• communication disorders, such as autistic spectrum condition (ASD; see entry Autism Spectrum conditions).

In most, APD is considered to be due to a neurodevelopmental disorder, such as dyslexia. In a small percentage, APD is acquired following some form of brain injury or secondary to a condition that  leads to a fluctuating hearing loss, such as glue ear, especially in the first few years of life. Sometimes APD can occur alongside other neurodevelopmental disorders, such as dyslexia and autism.

Studies have suggested that up to 5% of children may have some level of APD. There are a number of hearing and listening tests to diagnose APD and currently these are available to children at least 6 years of age in a small number of specialist centres across the country, although some centres prefer to wait until the children are at least 7 years of age. If there are suspicions of a language disorder or cognitive difficulty, these should be assessed before requesting an APD assessment.

There is usually no cure for APD but there are a number of strategies that would  help an affected child. Also, Auditory training software could improve certain specific types of APD (e.g. Spatial Processing Disorder)

Audiologists, teachers of the deaf and speech and language therapists can offer advice about:

• auditory training programmes, exercises and strategies to help the child become a better listener
• minimising the effects of APD at home and school.

General suggestions to help at school:

• the child should sit close to the teacher to hear better, lip read and use other cues to aid understanding
• provide written information to consolidate verbal instructions
• create a more favourable listening environment by adding carpet and soft furnishings (bean bags for example) and replace worn rubber feet on table and chair legs. These simple adjustments that will minimise the background noise level and reverberation
• assisted FM listening devices make it easier to hear the teacher (e.g. iSense, Phonak Roger devices, ReSound minimicrophone) by making the teacher’s voice level relatively louder than the background noise (improving speech to noise ratio)
• dynamic class soundfield systems can help to keep speech to noise ratio at a favourable constant level, but quality of soundfield speakers need to be very good, otherwise sound from the room speakers simply can add to the ‘noise’
• listening to good quality recorded material through personal headphones with good acoustic output  in mental maths tests and foreign language aural lessons and examinations
• younger children will be helped by a visual material and other visuals to support spoken instruction.

In the home:

• encourage the child to do listening and learning exercises at a regular time
• check that the child is looking and listening when necessary
• reduce background noise (such as TV or radio) when speaking.

Inheritance patterns
There is a possibility that APD may run in families, but further studies are required in this area.

Prenatal diagnosis
None.

APD Support UK

Email: apd.support.uk@aol.co.uk
Website:https://apdsupportuk.yolasite.com/

APD Support UK is the only organisation providing UK-wide support to individuals and families affected by Auditory Processing Disorder (APD).  Their website contains free, printable information about APD, coping strategies/management, strategies for support at school and at work, current research projects and more. It also provides details of where to find specialist testing and diagnosis for children and adults. and links to support groups for adults with APD, parents and loved ones.

Group details added December 2021.

A-T usually first appears when children start sitting and standing. They are likely to have problems with balance and coordinating movements. This will increasingly affect their walking and over time cause problems controlling eye movements, slurred speech and difficulties with eating and drinking. Other involuntary movements may develop later.

Red ‘spider veins’ called telangiectasia, often develop in the white part of the eyes after a few years. While they give the condition its name, they cause few problems.

The weakened immune system can make people with A-T prone to developing chest infections. The risk of developing cancers is greatly increased, particularly leukaemia, lymphoma and breast cancer. Affected individuals are very sensitive to the effects of radiation exposure, including medical X-rays.

Although people with A-T usually live into adulthood, their life expectancy is reduced.

A-T is caused by mutations in the ATM gene, which is involved in the signalling pathway used by cells to indicate that DNA is damaged and requires repair. While all cells are affected, those in the brain involved in coordinating movements and in parts of the immune system seem to be particularly vulnerable.

The appearance of progressive ataxia at an early age should lead to suspicion of A-T, especially if accompanied by frequent chest infections. The appearance of telangiectasia after the age of 3 or 4 years is a strong indicator as is a high level of alpha-fetoprotein in the blood. Confirmation of diagnosis is by blood testing, which is available through Professor Malcolm Taylor’s laboratory at the University of Birmingham.

Treatments are to alleviate symptoms as, unfortunately, there is currently no cure for A-T. A respiratory review should be carried out every three months. Antibiotics are frequently used to treat infections and prophylactic antibiotics can be prescribed to reduce the frequency of chest infections. Immunoglobulin therapy may also be prescribed.

Problems of movement and coordination vary between patients and appropriate medications may be prescribed by a neurologist. Affected children are likely to need a wheelchair and orthotics may become necessary as the condition progresses.

Unnecessary X-rays should be avoided where possible.

Inheritance patterns
The incidence of A-T in the UK is around 3 per million, with approximately one person in 200 carrying a mutation. The mode of inheritance is autosomal recessive. In families with an affected child there is a 25 per cent chance of recurrence in further pregnancies.

Prenatal diagnosis
This is usually possible, if the specific mutations have been identified. Affected families should seek advice from a geneticist.

Ataxia-Telangiectasia Society (A-T Society)

Tel: 01582 760733
Email: info@atsociety.org.uk
Website: www.atsociety.org.uk

The Society is a Registered Charity in England and Wales No. 1105528. It provides support to anyone affected by Ataxia-Telangiectasia (A-T), or a variant of A-T, and the people who care for them.  

Group details last updated January 2016.

Ataxia-Telangiectasia is a metabolic disease and information, support and advice is also available from Climb (see entry Inherited Metabolic diseases).

Asthma +Lung UK

Helpline: 0300 222 5800
Email: helpline@asthmaandlung.org.uk
Website: http://www.asthmaandlung.org.uk

Asthma + Lung UK is a Registered Charity in England and Wales No. 326730. It provides information and support to everyone affected by asthma and other lung conditions, They offer specific advice for children, young people and their families. 

Group details last updated March 2024.

The most common type of arthrogryposis is amyoplasia, which occurs as a result of lack of muscle formation. This has a recognisable pattern of joint involvement and other features. Although arthrogryposis is present at birth, it is not progressive (meaning that it will not get worse over time) and it is almost certainly not inherited so that the risk of other children in the family being affected is very low.

Early diagnosis of arthrogryposis is important and referral to a geneticist is recommended to see if the pattern of problems can be recognised and a specific diagnosis made.

The care of people with arthrogryposis is essentially symptomatic (designed to treat the symptoms of the disease). However, early diagnosis is important so that appropriate therapy can be planned. Arthrogryposis should be managed by a multi-disciplinary team in a specialist centre as it is a rare condition. Treatment may include early physiotherapy (including passive stretching exercises), splinting and surgery to improve the mobility of the joint.

Inheritance patterns
All types of inheritance may be implicated, including chromosomal problems. The family tree may provide clues to how the condition is inherited or passed down through the family. Families should seek genetic counselling if there is an occurrence of arthrogryposis in the family.

Prenatal diagnosis
If the specific genetic change that has caused the problems is known, then it may be possible to look for this in subsequent pregnancies by chorionic villus sampling (CVS) or amniocentesis. This is likely to be possible in only a very small minority of cases.

Ultrasound scanning later in the pregnancy may detect contractures or a decrease in fetal movements, but it may not be possible to be sure of how severely the baby is likely to be affected.

The Arthrogryposis Group (TAG)

Tel: 07508 679351
Email: help@arthrogryposis.co.uk
Website: arthrogryposis.co.uk

TAG is a Registered Charity in England and Wales no. 1164158. It provides imformation and support to people born with Arthrogryposis and their families.  They hold get togethers around the UK for all ages where members get together, chat and support each other in their day to day activities. TAG have also started up dedicated TAG clinics at numerous hospitals around the UK for children born with Arthrogryposis. 

Group details last reviewed December 2020 .

Oligoarticular JIA
This is the most common type of JIA and affects four or fewer joints. Symptoms are swollen, painful joints, particularly the knees and/or ankles. Eye inflammation is common and specialist eye checks are needed. Many children with oligoarthritis improve after some time, but if a few joints remain swollen, the disease is termed persistent oligoarthritis. If the disease worsens, and more joints become involved, it is called extended oligoarthritis. It tends to affect girls more commonly than boys.              

Polyarticular JIA
This is when 5 or more joints are affected in the first 6 months of the illness.  As well as pain and stiffness in joints other symptoms include tiredness and eye inflammation.

Systemic onset JIA
This is a rare type of arthritis in which joint pain is accompanied by general illness. It begins with symptoms such as fever, rashes, lethargy (tiredness) and swelling of the lymph glands in the neck, underarm and groin. Early signs are often mistaken for an infection. Rarely, the lining of the heart (pericarditis) or lungs (pleuritis) may become inflamed. 

Enthesitis related arthritis
This occurs due to inflammation of tendons or ligaments where they attach to bone. The condition may also cause painful areas in the soles of the feet or other areas around the knees or hips. Stiffness and pain in the spine are uncommon in childhood, but can persist into adulthood (known as ankylosing spondylitis in adults-see entry).

Psoriatic Arthritis (see entry Psoriatic Arthritis in Children).

An alteration of the immune system causes it to target the lining of the joint, known as the synovium, resulting in inflammation. When the inflammation persists, joint damage may occur. It is not known what makes the immune system act in this way.

Each child will have an individual care plan devised for them. In cases where other organs or systems are involved, such as the eyes, the appropriate specialist will need to be involved (eg ophthalmologist to assess eye inflammation).                                                                                             

Drug treatment

• Non-steroidal anti-inflammatory drugs (NSAIDs) – eg ibuprofen(Nurofen) or diclofenac (Voltarol). These can reduce fever, pain andinflammation.

• Steroid injections – these can be given into joints and work by ‘dampening’ down the immune system and reducing the inflammation within the joint. Steroids can also be taken by mouth or injected into a muscle or vein.
• Disease-modifying anti-rheumatic drugs (DMARDs) – such as methotrexate. This type of medication can be taken as a pill or as an injection and works by suppressing the disease process.
• Biologic agents − a biologic agent copies the effects of substances naturally made by your body’s immune system. They work by interfering with biologic substances that cause or worsen inflammation, thus reducing symptoms of JIA.

Non-drug treatment

Physiotherapy to improve mobility in painful joints as well as regular exercise will be an essential part of treatment for a child with arthritis. Occupational therapy may be needed to make sure the living environment and necessary aids and adaptations are in place for a child with reduced mobility, or for specialist hand therapy.

Inheritance patterns
It is very rare to have more than one child with arthritis in a family, but there are some genetic factors passed on through the generations that may make it more likely that a child will develop arthritis.

Prenatal diagnosis
None.

Arthritis Care

Helpline: 0808 800 4050
Email: helplines@arthritiscare.org.uk
Website: arthritiscare.org.uk
The Source Helpline: 0808 808 2000
Email: thesource@arthritiscare.org.uk

Arthritis Care is a Registered Charity in England and Wales No. 206563, and in Scotland No. SC038693. It provides information and support to people living with arthritis in the UK via its helpline and publications. Arthritis Care also runs The Source which offers support to young people and the parents and families of children with arthritis

Group details last updated July 2015.

Children’s Chronic Arthritis Association

Tel: 01242 511250
Email: info@ccaa.org.uk
Website: ccaa.org.uk

The Association is a Registered Charity in England and Wales No. 1004200.  It offers information and support for children with arthritis, their families and professionals involved in their care. The Association organises an annual family support weekend, and provides support through area family contacts.

Group details last updated October 2019.

Juvenile Arthritis Research (JAR)

Email: kipo@jarproject.org
Website: www.jarproject.org

Juvenile Arthritis Research is a Registered Charity in England and Wales No. 1091620. Their vision is a world where no child has to suffer from arthritis, and they undertake research, raise awareness of the condition, and provide support. They offer free support packs to children and young people with JIA and their families anywhere in the UK, as well as online information and support resources and networks. More information from www.jarproject.org/hope

Group details added August 2022.

JIA-at-NRAS

Tel: 0845 458 3969
Email: jia@nras.org.uk
Website: jia.org.uk

JIA-at-NRAS is a service provided by the National Rheumatoid Arthritis Society. They provide information and support, including a helpline and a wide range of publications, for families, children and young people affected by Juvenile Idiopathic Arthritis .

Group details added January 2017.

The cause of AVMs is not known, but it is thought that they develop as a result of a mistake in embryonic or fetal development (during a baby’s development in the womb).

Arteriovenous malformations of the brain

The main symptoms of brain AVMs include:

• seizures/epilepsy
• brain haemorrhage (bleeding in or around the brain)
• in the absence of brain haemorrhage, weakness or numbness in the body
• ringing in the ears (known as pulsatile tinnitus) – this only occurs with AVMS occurring under the dura (covering of the brain).

Further problem that depend on the specific position of the AVM include:

• muscle weakness or paralysis
• loss of coordination
• dizziness
• visual disturbances
• problems in using or understanding language
• numbness, tingling or pain
• memory deficits.

Vein of Galen malformation is a rare specific form of AVM.

There are three main methods of treating AVMs of the brain:

• embolisation, in which particles are injected to block off the blood vessels of AVMs of the brain and dura (covering of the brain)
• stereotactic radiosurgery, in which radiation is used to treat small vascular malformations, mainly AVMs less than three centimetres across
• neurosurgery, in which a surgical operation is performed on the brain to disconnect an AVM of the brain or dura (covering of the brain) from the arteries that supply it and the veins that drain it.

Inheritance patterns
Rarely, AVMs may occur in the brain and lungs as a result of a condition called hereditary haemorrhagic telangiectasia.

Prenatal diagnosis
The presence of an AVM may be picked up on ultrasound scan, although this is not usually the case.

As in AVMs of the brain, a pulmonary AVM is present at birth and the capillaries essential for the full oxygenation of blood are not present. Consequently, the normal oxygenation is not carried out properly as the exchange process of oxygen and nutrients for carbon dioxide and other waste products does not occur.

The effects of pulmonary AVMs include:

• breathing difficulties
• shortness of breath on physical exertion
• cyanosis (bluish or purplish discolouration of skin or lips as a result of poor blood oxygenation)
• clubbing (enlargement of the tips) of the fingers
• audible murmur (noise from the heart) when a stethoscope is placed over the AVM
• warmth of the overlying skin
• occasionally coughing up blood.

Some people with a pulmonary AVM do not have symptoms.

Diagnosis of a pulmonary AVM is made following tests which include, chest X-rays, chest computerised tomography (CT) scan, bubble echocardiogram (scan of the heart), perfusion lung scan (X-ray examination after injection of radioactive material), pulmonary arteriogram (motion picture X-rays) or blood tests.

Treatment of pulmonary AVMs is by either surgical removal of the abnormal vessels and surrounding lung tissue or it might be possible to block the fistula with a coil when an arteriogram is carried out. If treatment is not carried out, there is a possibility of blood clots travelling from the lungs to the limbs or the brain. In which case, a stroke is a possibility.

Inheritance patterns
AVMs may be associated with conditions such as hereditary haemorrhagic telangiectasia, which is inherited in an autosomal dominant manner, or juvenile polyposis (a condition where there are multiple polyps in the gastrointestinal tract) with hereditary haemorrhagic telangiectasia.

Prenatal diagnosis
This may be picked up on an ultrasound scan.

Spinal AVMs are very rare. They usually become apparent in adult life. They are a potentially treatable cause of myelopathy (any disease or disorder of the spinal cord). Myelopathies may cause any or all of the following symptoms:

• weakness of the legs
• disturbance of sensation over the legs, buttocks and genital areas
• impairment of bladder and/or bowel function.

Spinal AVMs usually involve the lower part of the spinal cord, called the thoracic cord, which stretches from the neck to the small of the back.

Improvements in spinal cord imaging with magnetic resonance imaging (MRI) have lead to quicker diagnosis. However, spinal AVMs are notoriously difficult to detect, and may require spinal catheter angiography (visualisation of the blood vessels after injection of a radiopaque substance) to be certain about the diagnosis.

Treatment of spinal AVMs is often difficult, and usually its objective is to limit further damage to the spinal cord, rather than alleviate the problems already caused. The two main forms of treatment are surgical excision and embolisation via a catheter in the groin. Embolisation is becoming the mainstay of treatment as technological advances in catheters and embolic glues are made.

AVM Support UK

Email: via website
Website: avmsupport.co.uk

AVM Support UK offers information and support to all whose lives have been affected by Arteriovenous Malformations. It hosts an online support meeting area in which registered users meet on a weekly basis.

Group details last updated July 2015.

People become infected with West Nile encephalitis from the bite of an infected mosquito. The virus is not transmitted from person to person. West Nile virus has been described in Africa, Europe, the Middle East, west and central Asia, Oceania, and most recently, North America. The incubation period (time it takes from getting the virus until symptoms are noticed) of a West Nile virus infection is usually five to fifteen days. Mild infections are common and include fever, headache and body aches, often with skin rash and swollen lymph glands.

Encephalitis occurs when the virus invades the central nervous system destroying the brain with accompanying inflammation. The symptoms include muscle weakness and paralysis, mild confusion and behavioural changes (which may be mistaken for hysteria), convulsions (fits) and deep coma.

There is no specific treatment for West Nile virus. Current management consists of treating the complications of the condition such as high fever and aches, some patients are left with severe paralysis, convulsions or raised intracranial pressure.

The simplest preventative measure is to avoid bites from the mosquitoes that carry the virus. This involves wearing long sleeves and trousers, especially during the evening. For further protection use an insect spray containing at least 30 per cent DEET (N,N-diethyl-3methlybenzamide) and sleep under bed-nets.

Inheritance patterns
None.

Prenatal diagnosis
None.

Japanese encephalitis virus is transmitted in an animal cycle between small birds by culex mosquitoes, and pigs. Humans become infected by a bite from a mosquito. It occurs from the islands of the Western Pacific in the east to the Pakistani border in the west, and from Korea in the north to Papua New Guinea in the south.

Japanese encephalitis is a condition caused by a flavivirus that affects the membranes around the brain causing encephalitis. Most Japanese encephalitis virus infections are mild (fever and headache) or without apparent symptoms. More serve infection result in severe disease characterised by rapid onset of high fever, headache, neck stiffness, disorientation, coma, seizures, spastic paralysis (paralysis in which the part of the nervous system that controls coordinated movement of the voluntary muscles is disabled) and sometimes can be fatal.

An effective killed vaccine is available for Japanese encephalitis, but it is expensive and requires one primary vaccination followed by two boosters. This is an adequate intervention for travellers, but has limited public health value in areas where health services have limited resources. A live vaccine is used in China. Personal protection (using repellents and/or mosquito nets) will be effective under certain conditions.

Inheritance patterns 
None.

Prenatal diagnosis
None.

Tick-borne encephalitis (TBE) has a wide area of distribution across Europe and Russia. It is caused by a virus that is spread by ticks. Ticks are small parasites that survive by sucking blood from animals – including humans. It is also found in small rodents and some larger animals such as sheep and goats.

There are three different types of TBE: the European, the Siberian and the Far Eastern types. The European type is mainly found in central, eastern and northern Europe. The main times in the year when people get TBEare spring and summer (it is also sometimes called Russian Spring-Summer Encephalitis).

After one to two weeks’ incubation the virus causes symptoms. In the European type of TBE there are normally 2 phases to the illness. The first phase occurs when the virus is in the blood stream. This phase consists of flu-like illness with symptoms such as fever, headache and generalised body aches. It lasts around 5 days. There is then about a week with no symptoms which is followed by the second phase of the illness. The second phase is where the brain or nerves are involved. The severity of the second phase varies between patients. Some people will have a very mild illness whilst in others may be serious.

The symptoms in the second stage are similar to other causes of encephalitis and meningoencephalitis (inflammation of the lining of the brain). These include neck stiffness, headache, drowsiness, poor coordination and tremor. Some patients will also get limb weakness (most often in the arms). In severe cases, the muscles that control the breathing are affected and this may be fatal.

A vaccine given as two doses four to six weeks apart, has been recommended for those likely to be exposed in the forested areas of Europe and Russia where TBE exists. Such vaccines are now used widely in Austria.

Louping ill virus: This is a closely related tick-borne virus notable for being the only flavivirus found naturally in the British Isles (as well as Scandinavia). It occurs naturally among small mammals (hares, wood-lice and shrews), but is also transmitted to highland sheep, which develop encephalitis. The disease is named after the leaping (or louping) demonstrated by the encephalitic sheep. Very occasionally the virus infects humans causing meningoencephalitis, which can be severe.

Powassan virus: This is a distantly related tick-borne flavivirus found principally among small mammals in Canada that occasionally causes meningoencephalitis in humans.

Inheritance patterns
None.

Prenatal diagnosis
None.

Information and support in the UK for arboviral encephalitides is provided by the Encephalitis Society (see entry Encephalitis).