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FUB:s Support Group
for
Smith-Lemli-Opitz Syndrome

Information about
Smith-Lemli-Opitz syndrome

 

 

In this leaflet we would like to describe an unusual syndrome, the Smith-Lemli-Opitz syndrome. "Syndrome" means a particular pattern of deviations and symptoms. Smith-Lemli-Opitz syndrome was first described in 1964 by three doctors, after whom the syndrome is named.

If you are reading this leaflet, you may be a parent or relative or perhaps working within the caring professions. People with Smith-Lemli-Opitz syndrome and their families need much support and help. Some parents have formed a Support Group within FUB, "Föreningen för Utvecklingsstörda Barn, Ungdomar och Vuxna" (the Swedish organisation for children, youths and adults with learning disabilities).

On the last page, you will find information about how to contact FUB, the parents in the Support Group and medical experts.

 

Facts about Smith-Lemli-Opitz syndrome

In Sweden, on average, one child every other year is born with the Smith-Lemli-Opitz syndrome. The syndrome is inherited. It is caused by defects in one of the genes of both parents. It is relatively common to be a carrier for Smith-Lemli-Opitz syndrome. But it is uncommon that two people with the same defective gene should meet and have a child together. If they do, there is a probability of 25% (1 in 4) that their child will have Smith-Lemli-Opitz syndrome. If you are a parent thinking of having another child, you can discuss your situation with a genetic expert. Genetic counselling is available at Karolinska sjukhuset in Stockholm, Östra sjukhuset in Göteborg, Lasarettet in Lund, Akademiska sjukhuset in Uppsala and Regionsjukhuset in Umeĺ.

In May 1993 American researchers published an article describing their discovery that the cause of the Smith-Lemli-Opitz syndrome is a deficient metabolism. The affected children have a diminished and fluctuating ability to form cholesterol. This could be the cause of the medical problems and disabilities typical for the children with the syndrome. Hopefully, the discovery will lead to the development of possible treatments which can increase the wellbeing of the children and improve their general condition. Trials with supplementary cholesterol and bile acids to the children's diet are now being carried out in Sweden and in other countries.

Thanks to the new discoveries, new methods for antenatal diagnosis have been developed. Samples are taken from the placenta or the amniotic fluid and the level of cholesterol is analysed. So far the analysis has been carried out at Huddinge sjukhus in Stockholm (see the last page).

Diagnosis

Children with Smith-Lemli-Opitz syndrome have certain combinations of particular deviations. These used to be the only way to diagnose the syndrome. It is now also possible to determine whether the child has the deficient metabolism causing the syndrome through blood analysis (at Huddinge sjukhus in Stockholm).

 

Characteristics of the syndrome

The pregnancy

The newborn baby

Head/face

Hands/feet

Boys' sexual organs

Miscellaneous

 

Many different disabilities...

Most of the Smith-Lemli-Opitz syndrome children have several disabilities. One is learning disabilities, ranging from moderate to severe. Few develop normal speech, but most can make themselves understood with sign language or body language. Nearly all have severe physical disabilities and need much physiotherapy and special equipment. The feeding of the children is time consuming and many are tubefed for many years. Constipation is a common problem. Sleeping difficulties are experienced by nearly all, with the child being awake for long periods at night. Most are very prone to infections and tend to get frequent attacks of pneumonia and ear infections. Allergies can be another problem. Some get allergic reactions in sun light. Visual and hearing difficulties are common. The children's hands and feet are often extra sensitive to the touch.

...but cuddly children

As a parent you have had a child, not a "syndrome"! Most children with Smith-Lemli-Opitz syndrome are happy; they like body contact and tough boisterous games. Many like music and funny noises. With love, caring support and stimulation the children can develop in their own way and lead a good life.

 

Where can you get help?

When you have had a child with disabilities you must be given the opportunity to talk about it. Through FUB (see the last page) you can meet other parents. FUB also offers counselling for parents. You can also contact the parents in the Support Group for the Smith-Lemli-Opitz syndrome.

There is support available from national and local authorities for children with disabilities and their families. The obligations of the authorities and the rights of the families are laid down in special legislation. A law regarding support and service for people with disabilities stipulates among other things the right to a personal assistant. There is also an entitlement to a care allowance from central government. The child is entitled to the allowance from a few months after birth.

In all county councils there is habilitation available for children and youths. In most cases it is the county council that is responsible for the habilitation and provides a team with a counsellor who works together with the social services of the local authority to help your family to get everyday life to run smoothly. Within the framework of the county council's habilitation programmes there are many means of assistance to help your child develop. Treatment and advice about suitable special equipment are available from physiotherapists and occupational therapists and there are psychologists able to give support. Via a toy library the child can borrow amusing and stimulating toys aimed at children with specific difficulties. The speech therapist can give advice about tube feeding and help you to develop your child's ability to communicate. Subsidised taxi fares can facilitate journeys with a small child prone to infections and vomiting.

Home adaptation to facilitates care and exercise may also be needed.

Make sure that hearing and vision are checked during the first year and regularly after that. Often, the child needs strong glasses. The deficient metabolism also necessitates frequent contacts with a dietitian.

Since the children are so prone to infections, they cannot be part of large groups of children. The child care facilities must be tailor-made to suit the needs of your child. A day nursery exclusively for children with special needs, child care in a small group or a personal assistant in the home are some alternatives.

Your child needs fit and energetic parents! There are many ways of getting "breathing space". Help from the social services in your own home can be an alternative, also during the night. Naturally, you must be able to have a say in who is caring for your child in your home. Respite care in a private home or in an institution are other possibilities. You are entitled to help according to your needs. You are also legally entitled to a personalised plan listing suitable means of assistance.

Make sure this leaflet is included in the child's medical records so that new doctors and other care professionals quickly can obtain information about the syndrome. If your child needs special treatment when ill - ask your doctor to write it down so that you have a piece of paper to show at the hospital. This is particularly important when an emergency visit is necessary.

 

FUB

FUB, "Föreningen för Utvecklingsstörda Barn, Ungdomar och Vuxna" (the organisation for children, youths and adults with learning disabilities) has members all over Sweden. FUB are acting and campaigning for the interests of people with learning disabilities. Within FUB you can meet other parents, find out more about learning disabilities and obtain information about the support to which you are entitled. "FUB-KONTAKT" is one of FUB:s magazines for members. It contains information about support groups for small and less well-known disabilities. Contact FUB, tel +46 8 678 8131, and they will give you the phone number of your nearest local branch and of FUB's counsellor for parents.

 

Contact persons for the Support Group
for Smith-Lemli-Opitz syndrome

 

Resource Team

The resource team consists of parents and persons with different professional backgrounds who all have knowledge and experience of children with Smith-Lemli-Opitz syndrome:

  • Inga Almerud, Counsellor
  • Anita Ericsson, Nursery Counsellor
  • Anita Franzén, Speech Therapist
  • Anna Carin Hagberg, Disability Adviser
  • Margaretha Lindahl, Personal Assistant
  • Cecilia Lantz, Occupational Therapist
  • Anne Christine Svahn, Physiotherapist
  • Marie Larsson, Ann Lötbom, Karin Mossler, parents

 

The Resource Team has produced a leaflet about feeding, toys, stimulation, communication and exercise for Smith-Lemli-Opitz syndrome children. You can order it from FUB (tel.+46 8 678 8131) and it is free for parents.

 

Medical network

A medical network has been established to develop treatment plans and dietary advice. Contact the habilitation specialist and neurologist Dr Lena Starck, Sachsska barnsjukhuset in Stockholm, tel. +46 8 616 4000.

 

Cholesterol testing

Contact Professor Ingemar Björkhem, Huddinge sjukhus in Stockholm, tel. +46 8 746 1000. For counselling before embarking on another pregnancy, contact Dr Elisabeth Blennow, Karolinska Sjukhuset, clinical genetics, tel. +46 8 729 2000.

 

Printed in April, 1995.

Send mail to Anders.Rockstrom@jmr.pp.se with questions or comments about this web site.
Last modified: mars 03, 1997