Condition AZ: d

Also known as: Hearing loss

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 Deafness produced by alternative providers.

NHS Website
www.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?

Deaf Education through Listening and Talking (DELTA)

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

DELTA is a Registered Charity in England and Wales No. 1115603. It supports and develops the Natural Aural Approach and provides information. DELTA organises meetings for families across the country and runs summer schools so that families can learn about the Natural Aural Approach.

Group details last updated December 2023.

deafPLUS

Email: info@deafplus.org
Website: deafplus.org

deafPLUS is a Registered Charity in England and Wales No. 1073468. It works to encourage integration and equality between deaf and hearing people in England. Its services include information, advocacy, training, equipment assessment and fitting, BME and DeafBlind support.

Group details last reviewed December 2023.

Email: helpdesk@hearinglink.org
Website: hearinglink.org

The Organisation is a Registered Charity in England and Wales No. 264809 and Scotland No. SC037688.  It provides information and support for people with any level of hearing loss, and their family and friends.

Group details last reviewed December 2023.

RNID (formerly known as Action on Hearing Loss)

Tel: 0808 808 0123
Email: information@rnid.org.uk
Website: rnid.org.uk

The Organisation is a Registered Charity in England and Wales No. 207720, and Scotland No. SC038926. It provides information and support for people with hearing loss and tinnitus. The Organisation offers information for people who are deaf and have additional needs; communication services and training; and practical advice to help people protect their hearing. It campaigns to change public policy and supports research into an eventual cure for hearing loss and tinnitus.

Group details last reviewed December 2023.

The National Deaf Children’s Society (NDCS)

Helpline: 0808 800 8880
Email: via website
Website: ndcs.org.uk

The Society is a Registered Charity in England and Wales No. 1016532 and in Scotland No. SC040779. Its services include a freephone helpline providing information and support on many issues relating to childhood deafness with specialist advice on audiology and technology. The Society also has access to a telephone interpreting service and provides a network of family officers who offer advice on education and welfare benefits.

Group details last reviewed December 2023.

Background

Deafblindness, sometimes known as dual sensory impairment or multi-sensory impairment, is a combination of sight and hearing difficulties (see entry Deafness). A very small number of people with deafblindness are totally blind and deaf, but most have some useful vision and/or hearing. It may not be clear at first how well a child will be able to see or hear, especially if they have other problems. Deafblind people will have difficulties with communication, mobility and access to information.

An individual may be born deafblind (called congenital deafblindness) or acquire deafblindness later in life, and the needs and problems of these two groups are different. People born deafblind will often have other difficulties to cope with. They may have physical disabilities, learning difficulties (see entry Learning Disability), experience delays in learning or have challenging behaviour.

Credits

Medical text written October 2004 by Dr T Best, Chief Executive, Sense, London, UK. Last updated November 2011 by Stephen McCarthy, Deputy Head of Information and Advice, Sense, London, UK.

What are the causes?

A huge range of conditions can cause deafblindness. There is no single or main cause. Many of the conditions causing deafblindness are extremely rare.

The range of causes includes prematurity (see entry Prematurity and Sick Newborn); congenital genetic conditions, such as CHARGE syndrome or Joubert syndrome; accident; or illness, such as meningitis and in-utero infection, such as cytomegalovirus.

There are many causes of acquired deafblindness including the genetic condition Usher syndrome. Some people who have been born deaf or blind may also lose their sight or hearing through accident or illness.

A comprehensive list of causes of deafblindness is available from Sense (see the Is there support? Section).

How is it treated?

People with deafblindness need to get as much information as possible from their residual sight and hearing and from their other senses – using their senses together. For many, touch can provide a means of learning about the world and a means of communicating. Some deafblind people become very skilled in using the sense of smell, for example, and use it to identify people. Some come to recognise movement around them because of something as subtle as changes in air pressure on their skin.

Every person has different, individual needs, even people with the same diagnosis vary enormously in their abilities and character. Some conditions, both congenital and acquired may change over time, in how well children see or hear, or in their health or general development. There are however a wide range of interventions or therapies which may help.

  • For many deafblind people there is a role for individual human support services to provide support with communication, aid mobility and provide access to information. Roles such as communicator-guide or intervenor can provide invaluable support in living and learning.
  • Tactile communication approaches – communication through touch. An example of this is hand signing.
  • Cochlear implants/bone anchored hearing aids (for some).
  • Sensory integration therapy – involves controlling sensory stimulation in order for the child to adapt to the sensory information that they receive from their surrounding environment.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Some causes of deafblindness such as Usher syndrome are inherited. Some such as Joubert syndrome may be inherited or sporadic. Others such as Kearns-Sayre syndrome are predominantly a sporadic event.

Prenatal diagnosis
Where deafblindness is associated with a specific condition, prenatal diagnosis may be available.

Is there support?

Sense

Helpline: 0300 330 9256
Email: info@sense.org.uk
Website: sense.org.uk

Sense is a Registered Charity in England, Wales and Northern Ireland No. 289868. It supports and campaigns for children and adults who are deafblind or have sensory impairments. The Charity works with children, young people, adults and older people with a progressive sight and hearing loss, offering a range of housing, educational and leisure opportunities.

Group details reviewed June 2022.

Sense Scotland

Tel: 0300 330 9292
Email: info@sensescotland.org.uk
Website: sensescotland.org.uk

Group details last reviewed June 2022. 

Also known as: Darier-White disease; Keratosis Follicularis

Overview

Darier disease is a genetic skin condition. The main features are warty bumps on the skin (called papules), nail abnormalities, and changes in the skin of the mouth and/or the anus. Skin papules are yellow, pink or brown, and are commonest in sweaty areas such as scalp, forehead, neck, back, armpits, and groins. They may be itchy or occasionally painful, and sometimes can be smelly. Nails may be brittle, dry and ridged. Mouth/anus changes are white papules, and only occur in a percentage of affected people. The condition usually starts between the ages of 10 to 20 years and tends to worsen with exposure to sunlight. Individuals with Darier disease are often susceptible to both bacterial and viral skin infections. Usually Darier disease is diagnosed by its clinical appearance, family history and a skin biopsy (removal of skin tissue for examination). Management includes creams and/or medicines to control itching and improve the appearance of the skin. Antibiotics/anti-viral medication may be needed to treat infections. Darier disease is caused by a change (mutation) involving the ATP2A2 gene. The mutation in ATP2A2 is usually inherited from a parent, and can be passed on. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Veronica Kinsler, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Darier disease in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also join our online community in our closed Facebook group

Background

Dandy-Walker syndrome (DWS) is a brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. Within the brain, there is a fluid called cerebrospinal fluid (CSF), which cushions the brain and spine. Ventricles are spaces either side of the brain and allow the CSF to flow around the brain, spine and nervous system. There are ‘so-called variants’ but the main features of DWS include:

Credits

Medical text written November 2002 by Mr N Buxton. Last updated February 2013 by Mr N Buxton, Consultant Paediatric Neurosurgeon, 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 is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

This entry is pending review, and certain details may no longer be up to date. Please ring our helpline or email our Rare Conditions Information Officer for more information.

What are the symptoms?

Excessive production of CSF, or failure of CSF reabsorption due to obstruction of the passageways out of the fourth ventricle, leads to an accumulation of fluid in the brain ventricles. This can cause raised intracranial pressure (ICP). Hydrocephalus is present in approximately 90 per cent of people affected by DWS. And can result in the failure of parts of the cerebellum to develop correctly. A large cyst is then visible on scans of the back of the brain.

Symptoms caused by ICP can include:

In early infancy:

  • slow motor development
  • progressive enlargement of the skull.

In older children:

  • irritability
  • vomiting
  • convulsions
  • signs of cerebellar dysfunction, such as unsteadiness, lack of muscle coordination or jerky movements of the eyes
  • increased head circumference
  • bulging at the back of the skull
  • problems with the nerves that control the eyes, face and neck
  • abnormal breathing
  • seizures.

What are the causes?

In the majority of cases of DWS the cause is not known. The syndrome is most often congenital (present at birth), but it can be acquired due to infection, chemical agents and other pre-birth factors. In some families, a genetic basis has been identified.

How is it diagnosed?

DWS is generally picked up before birth, by ultrasound. Ultrasound scans may detect the DWS cysts. A magnetic resonance imaging (MRI) scan is usually performed for detailed evaluation of the extent of DWS as can a computed tomography (CT) scan.

How is it treated?

Treatment for those with DWS consists of treating the associated problems. A special tube to drain off excess fluid may be placed inside the skull. This will reduce ICP and help control swelling. Symptoms caused by elevated ICP can be relieved by shunt drainage of CSF. The shunt can be used for the cyst (cystoperitoneal), the ventricles (ventriculoperitoneal) or both.

With treatment, outlook for children is good. Around 50 per cent of those children affected will develop developmental delay (see entry Global developmental Delay).

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Most cases are sporadic (with no previous family history), but there is one per cent chance of recurrence in further pregnancies. Affected families should be referred to a genetic centre for advice and information.

Prenatal diagnosis
Ultrasound scan may detect the DWS cysts.

Is there support?

Information and support in the UK for Dandy-Walker syndrome is provided by SHINE (Spina Bifida•Hydrocephalus•Information•Networking•Equality; see entry Spina Bifida).

Also known as: Kinsbourne syndrome; Myoclonic Encephalopathy; Opsoclonus Myoclonus syndrome; Opsoclonus-myoclonus-ataxia syndrome

Dancing eye syndrome (DES) or Opsoclonus myoclonus syndrome (OMS) is a very rare neurological condition which usually develops in the second or third year of life. The syndrome gets its name from the very unusual and characteristic eye movements, which are almost always present.

In this article

What are the symptoms of dancing eye syndrome?

The main features of the syndrome are ataxia (unsteadiness), myoclonus (jerky movements of the trunk and limbs), opsoclonus (rapid involuntary eye movements in all directions) and usually irritability with sleep disturbance. As with many other conditions, there is considerable variation in severity.

Most children develop the condition in the second or third year of life, but rarely it may occur earlier or later in childhood. There is also an adult variant of the condition.

What are the causes of dancing eye syndrome?

In children, the condition may occur with no clear trigger, or it may follow a viral illness. In about 50% of cases, it may be associated with a tumour called a neuroblastoma. Whenever DES/OMS is diagnosed, it is therefore important that a detailed series of tests are undertaken to make sure that neuroblastoma is not present.

If neuroblastoma is present it is usually, but not always, a benign (non-cancerous) variant of the tumour. Treatment of the neuroblastoma, whilst important in its own right, does not appear to alter the outcome of DES/OMS.

Because of the association with preceding infection and with neuroblastoma and the frequent response of the condition to treatments which modify the immune system (immunomodulatory therapies), it is thought likely that DES/OMS is the result of an immune or allergic cross-reaction in the brain, though there is no definite proof of this to date.

How is dancing eye syndrome diagnosed?


The diagnosis is based on the four characteristic clinical features:

The criteria for making a diagnosis have been formulated as being at least three of these four features in a child. Because it is very rare, many doctors are unfamiliar with the condition and the diagnosis can sometimes be delayed.

How is dancing eye syndrome treated?


The treatments used for DES/OMS are those used to suppress the immune response. Steroids given by mouth or injection have been the main drugs used as they dampen down the effect of the immune system. Other treatments which modify the immune system may also be used; these include cyclophosphamide, rituximab, intravenous immunoglobulin and azathioprine. Large-scale research trials in Europe and the USA are aimed at improving the treatment options.

The longer term outcome of this condition is very variable. A very few children fully recover very quickly without treatment. Others respond to treatment partially or completely. More severely affected children often have longer-term problems with learning, coordination, behaviour and sleep which need careful assessment and treatment in their own right.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
There is no indication that the condition runs in families although immune-related conditions, such as thyroid disease and rheumatoid arthritis, are more common in families with a child affected by DES/OMS.

Prenatal diagnosis
Not applicable.

What support is there for people diagnosed with dancing eye syndrome and their families?

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. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

We’ve listed some support groups below and you can also meet other parents online in our closed Facebook group.

Dancing Eye Syndrome Support Trust

Tel: 07746 129950
Email: support@dancingeyes.org.uk
Website: dancingeyes.org.uk

The Trust is a Registered Charity in England and Wales No. 1060181, established in 1988. It offers information, telephone support and the opportunity to meet other families.

Group details last updated March 2019.

Credits

Medical text written August 1996 by Dr J Wilson, Honorary Consultant Paediatric Neurologist, Great Ormond Street Hospital, London, UK. Last reviewed March 2019 by Dr Ming Lim, Consultant Paediatric Neurologist, Evelina London Children’s Hospital, London, 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.