Guidelines
Guidelines on Williams Syndrome are available in different languages on the websites of several national Williams Syndrome organizations. Some examples:
- Czech Republic: https://www.spolek-willik.cz/prakticke-informace/literatura/
- Denmark: https://williamssyndrom.dk/?page_id=42
- France: https://williams-france.org/comprendre-le-syndrome/
- France: https://www.autourdeswilliams.org/autour-des-familles/ressources-et-temoignages
- Germany: https://www.w-b-s.de/info-material/
- Hungary: https://www.williams.org.hu/a-williams-szindr%C3%B3ma/kalauzok
- Ireland: https://www.williamssyndrome.ie/resources/#leaflets
- Spain: https://sindromewilliams.org/sindrome-de-williams/informacion-y-publicaciones/
- United Kingdom: https://williams-syndrome.org.uk/forms/
Other Guidelines:
| Name | Link |
|---|---|
| Recommendations for the anaesthetic management of patients with Williams-Beuren syndrome | orphananesthesia.eu |
The European Reference Network for Rare Intellectual Disability and Congenital Malformations (ERN-ITHACA) creates and endorses clinical practice guidelines (CPGs) for over 5,000 rare syndromes. These guidelines are produced by multidisciplinary experts and patient advocates, standardizing the diagnosis, treatment, and multidisciplinary care for rare diseases.
FEWS actively participates in the realization of guidelines for the Williams Syndrome. 18 working groups are working on guidelines for all relevant topics, including the medical, learning, mental and social aspects. Most FEWS members have patient advocates, participating in one or several working groups. The process involves the following steps:
- Formulation of the clinical questions
- Search and selection of the scientific evidence of the answers to these questions
- Appraisal and synthesis of the scientific evidence
- Development of the recommendations
- External review
Williams Syndrome Published Books
Research
Williams Syndrome (WS) is a rare disorder, caused by a microdeletion in chromosome number 7. The lost material contains approximately 20 contiguous genes, with most notably elastin, which is the “marker gene”. WS is a non-hereditary syndrome that occurs at random and shows a wide variation in ability from person to person. It can affect brain development in varying degrees, combined with some physical effects or physical problems. These range from lack of coordination, slight muscle weakness, possible heart defects and occasional kidney damage. Development is delayed and atypical. The incidence of WS is thought to be somewhere between 1:7,500 to 1:20,000.
At present, due to its rarity, too few front-line medical and social care professionals are aware of this syndrome. Paediatricians in particular often lack the necessary experience to make the correct diagnosis, and this means that many Williams Syndrome children and their families are not given adequate opportunity to address their problems. However, we in the FEWS, are dedicated to redressing this imbalance, by helping to raise awareness and by facilitating a cross-border exchange of knowledge.
So far our experience with interventions, such as physio-, occupational- and languagetherapies have shown very good results. It is important to start with therapies as early as possible, in order to achieve the best possible results.