Encyclopedia of deafblindness

What is Deafblindness?

The term deafblindness describes a condition that combines in varying degrees both hearing and visual impairment. Two sensory impairments multiply and intensify the impact of each other creating a severe disability which is different and unique.

All people who are deafblind experience problems with communication, access to information and mobility. However, their specific needs vary enormously according to age, onset and type of deafblindness.

People who are deafblind are unable to use one sense to fully compensate for the impairment of the other. Thus they will require services which are different from those designed exclusively for either people who are blind or people who are deaf.

Articles on conditions and syndromes that can result in deafblindness:

Various syndromes and congenital conditions affect both the eye and the ear. This can be attributed in part to the development in the embryo of the eye and ear during the same time period, during the first 12 weeks of pregnancy. There are also similarities between the two organs, such as their common origin. As a result there are many diseases and symptom complexes which affect both sense organs and result in dual sensory impairment or deafblindness. It follows that prenatal causes of deafness may be associated with visual impairment whereas with postnatal causes there will be hardly any association.

Prenatal causes of deafblindness include rubella, cytomegalovirus and toxoplasmosis. Congenital rubella syndrome consists of deafness, cataracts, glaucoma, retinopathy and heart defects. Rubella is well known but in countries with effective immunisation programmes the number of newly diagnosed children is very low. A survey of 666 people known to Sense in Britain included only 2 children with congenital rubella syndrome under the age of 5.

However there are many young people and adults with congenital rubella syndrome and their education, continuing education, quality of life and health issues remains the major concern for many readers of Deafblind Education. A later edition of Deafblind Education will include an article on the possible delayed effects or manifestations of rubella.

Cytomegalovirus or CMV is a potential prenatal cause of deafblindness. In the UK Sense’s Head Office database records 7 people deafblind through CMV compared to at least 280 deafblind through rubella.

Cytomegalovirus means ‘large cell virus’, and is a commonly occurring virus. It belongs to the herpes virus group which includes chicken pox, cold sore and glandular fever viruses. Frequently the infection passes unnoticed or there may be mild flu-like symptoms. Very occasionally it is more serious and lasts longer, such as with glandular fever. Once infection has taken place the virus remains dormant or harmless within the body – usually with no ill effects. The virus can become active again at intervals. CMV is so common that by the age of 30 about half the people in Britain have already caught it and most people are likely to pick it up at some time in their lives. The virus is spread by saliva, urine and other body fluids. CMV is very difficult to avoid; it is usually caught from someone you are close to who shows no signs of being ill.

If a woman catches CMV during her pregnancy the virus may sometimes be passed on to the foetus. If this happens some babies may be damaged but perhaps only 10% of affected babies will display symptoms and in only half of these children will the disability be serious.

CMV, like the rubella virus, can cross the placenta and affect the developing foetus. It is only the first, or primary infection of a person during pregnancy which can cause problems. It is very rare that reactivation of CMV in pregnancy causes damage to the foetus.

Problems resulting from congenital cytomegalovirus vary but may include jaundice, bloodspots on the skin, enlargement of the liver or spleen, spasticity (disordered control of movement), intracranial and other calcifications (the deposition of calcium within organic tissue), mental retardation and seizures. In some cases hearing impairment may be the only sign of the CMV infection while others will have severe sight problems as well.

Estimates suggest that of 600,000 babies born in England and Wales perhaps 2,000 will have congenital Cytomegalovirus and of these about 200 have problems as a result. Most children with congenital CMV are healthy and if not tested for the virus at birth would not be suspected of having it. It is not known why some babies are affected and others are not.

Pre-natal diagnosis is not possible as at present there is no test available. There is no vaccine.

CaF (Contact A Family) Directory of specific Conditions & Rare Syndromes (updated Dec 93)

Tookey P Cytomegalovirus in Talking Sense (Autumn 87).

Admiraal Rare genetic syndromes associated with visual and hearing defects in Deafblind Education (July – Dec 89).

Best & Brown The Population of Learners with Multi-Sensory Impairment Distance Education Course: Multi Sensory Impairment: University of Birmingham.

By David Brown, February 1996

CHARGE Association is a multi-featured disorder characterised by a unique combination of diverse abnormalities. The pattern of features was first described in 1979 (1) but the acronym ‘CHARGE’ was first used in 1981. (2) This is, therefore, a relatively newly-recognised condition. The acronym ‘CHARGE’ is used to describe a heterogeneous group of children who exhibit at least four of the features prefixed by the letters of the acronym and including one or other of choanal atresia and colobomata. The combination of critical features was identified as:

C Coloboma are ocular deformities involving an absence of part of the eye, and visual impairments may or may not be present. Coloboma of the iris may reduce the child’s ability to adjust to bright light; coloboma of the retina will create a blank area in the child’s visual field. Anophthalmos or microphthalmia may also be present.

H Heart defects include tetralogy of Fallot, patent ductus arteriosus, atrial and ventricula septal defects, and others.

A Choanal Atresia a narrowing or a blockage of the passages between the nasal cavity and the naso-pharynx, is one of the major criteria for diagnosis. The blockage may be unilateral or bilateral, membranous or bony.

R Retarded growth may become manifest as the child matures. The majority of children with CHARGE Association are below the third percentile of physical growth norms.

G Genitalia anomalies. The incomplete development or under-development of the external genitals is common in males, very rarely evidenced in females.

E Ear anomalies can affect the external ear (lop or cup shaped, large, small or absent), middle ear (ossicular malformations, chronic serous otitis, stapedius tendon anomalies), and/or the internal ear (especially high frequency sensori-neural hearing loss). Mixed hearing loss (i.e. conductive loss with sensori-neural loss) is the most common form of hearing loss in CHARGE Association. Malformation or absence of the semi-circular canals is fairly common.

Evidence exists of other anomalies associated with this condition in addition to those above:

  • abnormal tongue size
  • cleft lip and/or palate
  • facial palsy
  • renal abnormalities
  • malformations of the larynx
  • atresia of the oesophagus with – tracheosophageal fistula
  • skeletal abnormalities

Historically, the medical profession considered mental retardation a characteristic feature of CHARGE Association. Recent literature suggests this may now be coming to be seen as an outcome of the other combined anomalies rather than as an integral anomaly of the Association itself. (3) (4)

At the First International CHARGE Association Conference (St Louis, 1993) it was proposed to alter the criteria for diagnosis to make earlier assessment easier by incorporating features which can be identified soon after birth, but this proposal has not yet been pursued.

The exact cause of CHARGE Association is still unknown but research suggests a variety of catalysts may induce the irregularities present in the CHARGE sequence of anomalies. The majority of cases are thought to be sporadic with no obvious evidence of genetic involvement. There is some evidence in the literature of characteristics of CHARGE being inherited, and also some evidence to suggest chromosome deletion in some cases. (5) References in the literature, and many parents of children affected, suggest the possibility of linking CHARGE with exposure to teratogens (substances which interfere with normal prenatal development) contained in pesticides, fungicides and wood preservatives, in the early stages of pregnancy, but this has not been proven. It seems likely that multiple genetic and environmental factors play a role in the aetiogenesis of the CHARGE Association.

In 1993 Hall referred to over six hundred children world-wide having been identified as presenting with CHARGE Association. (6) The support group in the United Kingdom has recorded over one hundred people with CHARGE, of whom several have died. (7) A survey of the deafblind population in New England aged nought to fifteen in 1992 revealed four percent with the diagnosis of CHARGE Association; (8) CHARGE accounts for six percent of the nought to five year old population currently being worked with by the Sense Family Centre in London.

Most of the literature on CHARGE is medical and until five or six years ago showed little understanding of the educational needs or potential for development of children with CHARGE Association. This has improved in more recent literature and, as explained above, with growing awareness of the importance of early educational intervention and of the need for appropriate educational approaches, it should become increasingly rare for ‘mental retardation’ to be automatically ascribed to young children with CHARGE Association.

Severe health problems are common in the early lives of children with CHARGE Association, usually necessitating multiple surgeries and repeated and prolonged hospitalisation. (9) It may be difficult for therapists and educationalists to gain access to children and their families during this period, but such access should be facilitated in a planned and co-ordinated manner as early as possible, not just to ensure optimal development for the child but also to try to minimise the devastating impact of these repeated surgeries and hospitalisations.

As with all young children born with multiple disabilities, it may take years to determine fully the extent and nature of each disability. The present writer has worked with several young children with CHARGE Association who presented as having severe visual impairment and severe hearing loss but who, subsequently, made excellent use of residual vision and hearing after appropriate early intervention and a great deal of hard work by their families and local teachers. (10) A survey of thirty-nine children carried out in the United Kingdom in 1992 revealed that all had been delayed in their early motor development (mean age of walking was four years) yet one third had not received input from a physiotherapist. Similarly, of the children with functional visual impairment two-thirds had received no input from an advisory teacher for the visually impaired in the pre-school years, and of those with dual sensory impairment only just over a quarter had received input from a ‘deafblind’ specialist in this crucial period. (11) As CHARGE Association becomes better known in the deafblind field it is hoped that this situation improves.

The two International CHARGE Association Conferences (St Louis 1993, Portland 1995) were organised by CHARGE Accounts, Quota Club, (2004 Parkade Boulevard, Columbia, MO 65202, USA). The Third Conference is planned for Boston in July 1997.

The First Australian CHARGE Association Conference took place in Sydney in 1994, organised by the Royal New South Wales Institution for Deaf and Blind Children, (36-365 North Rocks Road, North Rocks, New South Wales, 2151 Australia). The Second Australian Conference is planned for North Rocks in July 1996.

In the United Kingdom the key organisation is the CHARGE Association Family Support Group run by Mrs Sheila Draper, (115 Boundary Road, Colliers Wood, London SW19 2DE, England). The annual CHARGE Association Picnic will take place in London on 4 August 1996, and it is hoped to feature presentations and a meeting about CHARGE Association at the Sense Weekend Away in Birmingham in September 1996. The present writer has contacts who are interested in CHARGE Association in Canada, Italy, Denmark, Sweden, Norway and Germany.

1 Hall, BD (1979). “Choanal Atresia and Association Multiple Anomalies” Journal of Paediatrics 95 395-398

2 Pagon RA, Graham JM, Zonana J and Youing SL (l981). “Congenital Heart Disease and Choanal Atresia with Multiple Anomalies” Journal of Paediatrics 99 223-227.

3 Blake KD and Brown D (1993). “CHARGE Association Looking at the Future – the Voice of a Family Support Group” Child: Care, Health and Development 19 395-409.

4 Blake D, Russell-Eggitt IM, Morgan DW, Ratcliffe JM and Wyse RKH (1990). “Who’s in CHARGE? Multi-Disciplinary Management of Patients with CHARGE Association” Archives of Diseases in Childhood 65 217-223.

5 Blake et al (1990). 220

6 Hall, BD (1993) “What’s in a Name? History of CHARGE, Recognising and Naming Syndromes” Paper presented at the First International CHARGE Syndrome Conference, St Louis, Missouri.

7 CHARGE Association Family Support Group. Mr & Mrs N Draper, 115 Boundary Road, Colliers Wood, London SW19 2DE, United Kingdom. (tel: 0181-540 2141).

8 Riggio, M (1992). “A Changing Population of Children and Youth with Deafblindness” Proceedings of the National Conference on Deafblindness: Washngton DC. 20-26.

9 Blake et al (1990).

10 See also Riggio (1992). 23.

11 Blake et al (1993).

Toxoplasmosis is caused by a parasite called toxoplasma gondii. It forms cysts (hard-walled microscopic forms) which are passed in the faeces of its primary or main host, the cat.

In Britain, cats contaminate gardens and vegetables in their wanderings and even though they bury their faeces you can still come into contact with them, resulting in your eating the cystic form of toxoplasmosis. The infection is very likely to be contracted by children playing in sandpits, which is one reason why sandpits are supposed to be given new sand and sterilised each year.

Toxoplasmosis can affect almost all animals, including humans, but most animals carry it in their bodies. In pet-owning countries, humans can catch it from changing cat litter trays, gardening without gloves (in earth, cats’ faeces may remain infected for 14 months), and even by eating unwashed garden vegetables. Cats alone are not the only reason for the incidence of this condition. Undercooked meat and the increasing consumption of unpasteurised goat’s milk are two other potential causes. In France, the eating of raw or rare meat is considered a major cause of the spread of infection.

Luckily the infection that can result is usually very mild. It can be a glandular-like illness or produce symptoms of a mild flu. However, in a pregnant woman the infection, although not a risk to her, can cause congenic abnormality in the unborn child in up to 40% of infections. Of these, ten per cent are likely to be seriously affected.

If the disease is caught in early pregnancy it is less likely to cross the placenta to the foetus but, if it does, the effects are more serious. If the pregnant woman catches the infection later, it is more likely to cross the placentra but the effects on the foetus are less severe.

In France and Belgium the problem is considered to be so great that women are routinely screened as they are for rubella in Britain.

Babies that are born with toxoplasmosis (usually when infected between the third and sixth month) may develop severe symptoms. These include hydrocephalus, calcification in the brain and chorioretinitis (damage to the retina). Epilepsy and deafness can also result. Most worrying in this regard is that eye disease may not develop until the late teens.

The Public Health Laboratory in Swansea, UK, estimated in 1988 a rate of infection of two per 1,000 pregnant women. If the French figures of 40% passing infection to their babies is the same in the United Kingdom, it could mean that about 480 babies a year are affected in the UK.

Most adults recover spontaneously from toxoplasmosis without any treatment at all, although it is possible to treat the condition using sulpha drugs. Eye treatment of toxoplasma infections is more complicated, and pregnant women must be given a different drug since the usual one is too toxic. No treatment manages to eradicate all cysts. This means that an infection which may appear to have been cured can be reactivated.

In Britain, the reported cases of meningitis and septicaemia reached a 50 year peak during the winter of 1996/97; more notifications of the disease than in any year since 1947. The number of cases of meningitis and septicaemia in young adults, 15-24 years, has doubled in the last 2 years. The Meningitis Research Foundation is currently funding 2 research projects to look at acquisition and carriage rates of the bacteria in University Students, and whether there are social, psychological or biological factors that increase the risk of meningococcal disease in young people. This research is further compounded by the recent tragic deaths of three undergraduates from meningococcal septicaemia and highlights the trend of increasing numbers of deaths from this disease.

Meningitis is a condition in which inflammation of the lining (meninges) of the brain and spinal cord occurs due to a bacterial or viral infection. Meningitis is usually bacterial or viral, but in rare cases it can be caused by fungus. In its bacterial form the condition is life threatening. The viral form is usually less severe.

At least 50 species of bacteria can cause meningitis, but the main types are: Meningococcal, Pneumococcal, Group B Streptococcal, Ecoli, Listeria, Haemophilus influenzae B (Hib) and Tubercular (TB). In some of these forms of meningitis, namely meningococcal and group B Streptococcal, septicaemia occurs. Septicaemia is a form of blood poisoning and when it occurs on its own it is more life-threatening.

Most adult cases of meningitis are pneumococcal, although it can also occur in children. It is the most dangerous form of meningitis, having the highest risk of death, of long-term neurological damage and of relapsing. Most cases of neonatal meningitis results from infection with Group B Streptococcal bacteria which are carried by at least 5% of people and are usually harmless. Septicaemia is sometimes the main feature, especially in newborn babies, although a rash is not normally seen. In rare cases adults may also suffer from this disease.

Meningitis is sometimes caused by bacteria such as Ecoli and Listeria particularly in babies, elderly people and those with weakened immune systems. Many other bacteria even more rarely cause meningitis in the same way.

This type of meningitis is usually relatively mild, with symptoms of headache, fever and general ill feeling, although further meningitis symptoms may occur. Since people often recover without medical treatment, the incidence of viral meningitis is unknown, but it is probably more common than bacterial meningitis. Most cases are caused by enteroviruses that normally produce stomach upsets and diarrhoea, but may also be caused by the mumps virus, the measles virus, herpes and, rarely, insect-carried viruses. Viral meningitis is not normally considered to be contagious. Although most people recover from viral meningitis within a fortnight, it may take longer, and some people experience prolonged after-effects.

Fungal meningitis is quite rare. It may be caused by: candida albicans, a fungus which normally causes thrush. In rare cases, it can cause a dangerous form of meningitis, primarily in premature babies with very low birth weight; cryptococcus neoformans, a fungus commonly found in soil. It causes most cases of fungal meningitis. It generally only occurs in people with weakened immune systems.

Meningitis is a devastating disease which can kill in hours. Early diagnosis is crucial. Knowing the signs and symptoms of meningitis and acting quickly can save lives.

Symptoms of meningitis can include: a rash, though this is not present in all cases, drowsiness or impaired consciousness, fever and vomiting, severe headache, stiff neck and a dislike of bright lights. In addition to these symptoms, septicaemia can also occur and symptoms could therefore include cold hands and feet, rapid breathing, and abdominal, joint and muscle pain, sometimes with diarrhoea. Not everyone develops all these symptoms and meningococcal septicaemia can appear with or without meningitis.

Babies may also suffer from: tense or bulging fontanelle, blotchy or pale skin, refusing to feed, fretfulness with a shrill or moaning cry when handled, and body stiffening with involuntary movements, or a floppy body. Babies born prematurely or with low birth weight have a higher risk of all forms of neonatal meningitis. Prolonged labour after rupture of membranes also increases the risk of neonatal meningitis.



  • hearing impairments/deafness/tinnitus
  • loss of sight/changes in eyesight (not necessarily permanent)
  • brain damage (severe damage only occurs in 2% of cases)
  • stiffness in joints
  • loss of balance/”clumsiness”
  • fits/epilepsy (in 4% of cases)
  • tissue damage (due to acute septicaemia, skin grafts may be needed)
  • amputations (due to acute septicaemia)
  • arthritis
  • weakness/paralysis/spasms or lack of co-ordination



  • temper tantrums (in small children)
  • clinginess
  • tiring easily
  • residual headaches
  • moodiness/aggression
  • loss of memory, difficulty retaining information
  • lack of concentration
  • learning difficulties (probably in less than 5% of cases)
  • behavioural problems (sometimes short term)
  • changes of character (in extreme cases)


Not only do most people survive meningitis and septicaemia, but many people, possibly as many as eight out of ten, make a complete recovery. The reason, however, that it is difficult to give a precise figure, is that some of the after-effects of meningitis are non-specific, and it can therefore be difficult to be 100% certain whether they have been caused by the disease. This can be very distressing to the person concerned, all the more so because it can make it more difficult to get the support you need.

Goldenhar Syndrome was named in 1952, when Dr Goldenhar wrote about a number of facial problems that tend to occur together. Goldenhar is quite variable with some common abnormalities. The medical terms used in Goldenhar Syndrome are:

  • macpostoma – the opening of the mouth larger and extended towards the ear on one side;
  • hypoplasia – underdevelopment of the muscles in the face, cheekbones and skin;
  • small or misshapen ears;
  • prfauficular – skin tags or pits, usually in front of the ear in line with the mouth opening;
  • mouth problems such as lack of saliva, problems in tongue shape or use;
  • speech problems;
  • hemivertebre – spinal vertebrae which are small or not completely formed on one side;
  • Other problems that may occur in some but not all cases are eye defects, deafness, cleft lip or palate, and internal problems affecting the heart, limb or kidney.


A variety of terms have been used to describe this extremely variable disorder. According to medical literature, when malformations primarily involve the jaw, mouth, and ears and, in most cases, affect one side of the body (unilateral), the disorder is often referred to as Hemifacial Microsomia. If abnormalities of the vertebrae and the eyes are also present, the disorder is often called Goldenhar Syndrome. Within medical literature, the term Oculo-Auriculo-Vertebral (OAV)Spectrum is often used synonymously with Goldenhar Syndrome and Hemifacial Microsomia. However, due to the complexity and varying severity and expression of OAV Spectrum, some researchers suggest that Hemifacial Microsomia and Goldenhar Syndrome actually represent different aspects or levels of severity of OAV Spectrum. Goldenhar Syndrome is also considered a variant of Cranofacial Microsomia which is the second most common facial birth defect after cleft lip and palate.

Goldenhar is prevalent in males (70%) and affected individuals may have asymmetrical small ears and mouth with hypoplasia of the jaw, mouth and eyes (with epibular dermoids). In addition abnormalities often involve the skeletal, cardiac, central nervous and renal systems. Hearing loss varies from near normal to severe; vision defect, including diplopia of various degrees. Moderate learning disabilities may occur in about 10% of cases.

There is very little evidence to explain why Goldenhar Syndrome occurs. In most cases, Goldenhar Syndrome appears to occur randomly, with no apparent cause; nothing similar has ever happened in the family before, and there is little chance of it happening again. However, in some cases, positive family histories have been present that have suggested autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors – multifactorial inheritance.

There are cases of identical twins in which only one has the syndrome, even though they received the same genetic blueprint; whilst other researchers describe examples of siblings having Goldenhar Syndrome. There are a few families with an affected person having a 50% chance of passing on the syndrome. Family history may include cleft lip or palate, unusually shaped ears, asymmetry of face, small chin, skeletal problems, eye abnormalities, internal problems or speech and dental problems.

What is known is that a baby’s face forms during the 8th-12th week of pregnancy, by several different types of tissue growing together, meeting at the same time and place to form facial features. The tissues that will become the face and jaw start out separate from the upper part of the face. In Goldenhar Syndrome, something goes wrong with this meeting. Sometimes the tissue does not seal leaving the mouth and upper jaw longer on one side; sometimes there is extra skin where tissue has sealed near the ear, or skin covers the ear opening; and sometimes the chin and jaw lines do not properly develop.

Children with Goldenhar Syndrome usually look forward to a long life and normal intelligence. Special help that may be suggested are:

  • Tests to find out if there are any internal problems, special ultrasound and x-ray
  • Hearing aids
  • Speech therapy
  • Orthodental treatment
  • Physiotherapy
  • Plastic surgery (in severe cases)


Scanning may identify the condition in certain cases where facial or skeletal anomalies are present. Pre-natal screening and genetic advice may be offered for future pregnancies.

Mrs Nicola Woodgate
Goldenhar Syndrome Family Support Group
9 Hartley Court Gardens
Kent TN17 3QY

National Organization for Rare Disorders Inc.
P.O. Box 8923
New Fairfield, CT 06812-8923

Goldenhar website

Alström Syndrome (AS) was first described by Carl Henry Alström of Sweden in 1959 in a paper he co-authored with B. Hallgren, I.B. Nilsson and H. Asander1 . Alström Syndrome is a hereditary and very rare, life threatening disorder which begins to take effect during early childhood. At present there are 104 children and adults world-wide known to have this condition which can be quite variable and have an age-related progression.

Alström Syndrome is autosomal recessive and even though it has been mapped to chromosome 2p13, the gene responsible for the disorder has not been identified. Prenatal tests are not available for Alström Syndrome but diagnosis is made when particular features of the syndrome are observed.

In clinical medicine, diagnosis is made when four out of five principal features of AS are present. These are degeneration of the retina (retinopathy) at an early age i.e. under 1 year, which is usually first noticed as involuntary eye movements (nystagmus) and/or light sensitivity (photophobia). In addition, infantile obesity, cardiomyopathy (infantile or adolescent), mild to moderate sensorineual hearing loss may also be observed in early childhood, and type 2 diabetes mellitus or high levels of insulin in the blood (hyperinsulinemia) usually begin in adolescence.

Alström Syndrome tends to progress in a particular order with one of the first signs being either infantile dilated cardiomyopathy and/or nystagmus and photophobia. Both can occur as early as 1-3 weeks of age. Obesity is usually seen beginning in the first year or two of life. Hyperinsulinemia/insulin resistance has been documented in children as young as 2 years old, but there is not a lot of information about this yet. Sensorineural hearing loss occurs at approximately 4 – 6 years of age, diabetes may develop, usually after adolescence There may be kidney and liver problems too.

Alström syndrome is autosomal recessive which means that for a child to have the condition they must inherit one mutated gene from their mother and one from their father (see diagram).

Diagram to show pattern of inheritance for Alström Syndrome:

As the diagram shows, for each pregnancy there is a probability of 25% that parents who are carriers of the mutated gene will have a child with Alström syndrome. There is also a probability of 25% of having an unaffected child who will not be a carrier and a probability of 50% that they will have unaffected children who are carriers of the gene. Boys and girls have an equal chance of inheriting the gene responsible for Alström syndrome.

In 1997 researchers at the Jackson Laboratory in Bar Harbor, Maine, USA located the gene for Alström syndrome on chromosome 2. Genetic research is being conducted world-wide to identify the mutation responsible for such devastating effects on multiple organ systems. Research is also taking place in Canada, United States of America, France, Italy and the United Kingdom.

Children with Alström syndrome can and do lead full and productive lives. Even though there is no cure for Alström Syndrome treatment/therapy is possible to alleviate some of the symptoms experienced by those that have the condition. For instance, diabetes mellitus may be controlled with medication combined with diet and exercise, and the use of hearing aids can help children and adults cope with hearing loss.

As stated earlier there are 104 known children and adults with Alström syndrome who live in 16 different countries around the world. Most of these are in developed countries such as Canada, the United States of America and the United Kingdom – the latter having the largest group of diagnosed AS children and adults.

The distribution of Alström Syndrome affected individuals mostly seen in developed countries highlights the concern that there are probably many more AS cases in developing countries going undiagnosed, and this may be attributable to lack of information about the syndrome. Undiagnosed children could be missing out on vital medical treatment and educational approaches appropriate to their needs.

The Jackson Laboratory, Maine, USA is currently leading the research into identifying the genetic mutation. The international Society for Alström Syndrome Families (SASF) is also based in Maine, USA and has a board of directors consisting of people from Canada, USA and the UK. Branches are located elsewhere within the United States and one has recently established in the United Kingdom while another is just being formed in Canada.

Jan Marshall
The Jackson Laboratory
600 Main Street
Bar Harbor
Maine 04609 – 1500

International SASF
14 Whitney Farm Road
Mount Desert, Maine 04660

Kay Parkinson
Alström Syndrome – UK
49 Southfield Avenue
South Devon
England, UK. TQ3 1LH

Randy Douglas
Alström Syndrome – Canada
Ottawa, Canada

Fiona Hall-Jones
Sense, November 1999.