Williams-Beuren Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias
Osteopoicilia |
| ICD-10 online (WHO version 2019) | |
The Williams-Beuren syndrome (WBS) , also known under the synonyms Williams syndrome , Fanconi-Schlesinger syndrome , idiopathic hypercalcemia or elf-face syndrome , is a genetic peculiarity, the cause of a deletion on the chromosome 7 is and which is therefore one of the microdeletion syndromes .
history
The syndrome was named after the British cardiologist J. C. P. Williams, who worked in Auckland , and the Göttingen cardiologist Alois J. Beuren . It was first mentioned in medical literature in 1961 by Williams et al. a. and in 1962 by Beuren u. a. described in detail for the first time, although there are also indications that John Langdon Down , who first described the Down syndrome (trisomy 21) named after him in 1866 and the Prader-Willi syndrome from a scientific point of view, already described the WBS:
“I have had children with distinctive cheekbones, protruding eyes, puffy lips, and tight skin. They had woolly hair. "
Chronic idiopathic hypercalcemia, of which WBS is a severe form, was first described in 1952 by Guido Fanconi , Bernard Schlesinger and others. a. described.
root cause
It has been known since 1993 that the cause of WBS is a change in at least 20 genes on the long arm of chromosome number 7: 97 out of 100 people with the syndrome have a deletion (= loss of pieces) in the area 7q11.23, what is called contiguous gene syndrome (= loss of several neighboring genes on a chromosome segment). This is caused by spontaneous mutation and has the effect that, among other things, it causes disorders of the elastin gene, which is jointly responsible for the formation of connective tissue.
frequency
The frequency of occurrence of the WBS is around 1: 7,500 to 1: 20,000.
diagnosis
The diagnosis of WBS is made by a molecular cytogenetic examination of a few milliliters of heparinized whole blood. Using the FISH test with an elastin probe / chromosome 7q11.23-specific probe, the particular gene in question can be detected on chromosome 7.
Theoretically, prenatal diagnosis is possible, although the corresponding test (analysis of child cells, which are mostly obtained from the amniotic fluid ) is not routinely used and this peculiarity is not routinely searched for when the test is used. For this reason, a WBS is rarely diagnosed prenatally as part of prenatal diagnostics .
In general, the diagnosis after birth is often made relatively late, sometimes not until kindergarten or primary school age. Possibly this is due to the fact that the peculiarity and its symptoms are comparatively unknown, as they occur rather rarely.
Symptoms
Over time, various characteristics have been described that are common in people with WBS. Not all people have all characteristics or not all characteristics are equally pronounced:
- cognitive disabilities of varying degrees of severity
- Growth retardation (even during pregnancy / intrauterine, therefore usually low birth weight)
- frequent drinking problems and constipation in infancy
- frequent infections of the upper respiratory tract
- frequent middle ear infections (otitis media)
- Hearing impairment
- sleep disorders
- Eating disorders (solid and / or grainy meals are often refused)
- Hypercalcemia in the first few years of life (= too high a calcium level in the blood , which can be remedied with diet )
- a comparatively small head ( microcephaly ) and an approximately 20% smaller brain than usual
- special face shape ("Elfengesicht" / "Koboldgesicht" / "funny face")
- broad forehead
- deep nasal bridge , spherical nose tip
- expansive nostrils, forward nostrils (nares)
- protruding cheekbones
- in childhood "cheeky cheeks"
- small chin
- full lips
- long philtrum (= hollow between upper lip and nose)
- blue or gray eyes often have a whitish, wheel-spoke-like pattern (Iris stellata)
- Upper eyelid edema ("heavy eyes")
- comparatively short eyelid slits
- often curly hair
- comparatively far apart, small first teeth ("mouse teeth", caused by enamel hypoplasia )
- oversensitive teeth, tendency to rot ( tooth decay )
- deep, hoarse voice
- Often open mouth due to a forward displacement of the tongue
- narrow, elongated rib cage with sloping shoulders and elongated neck
- slightly short stature (about 10 cm lower body height than the population average)
- inward curved big toe (in older people)
- Ametropia , often strabismus , especially inward strabismus
- Lateral curvature of the spine ( scoliosis ) (in the elderly)
- Age-independent high blood pressure (arterial hypertension) in 40% of those affected
- Cardiovascular changes / heart defects (often supravalvular aortic stenosis (SVAS) / narrowing of the main artery directly at the connection to the heart with variable severity, hypoplastic aorta / too narrow main artery, septal malformations / holes in the cardiac septum) in 90% of those affected
- Pulmonary stenosis
- primary kidney malformations (particular location of the kidneys, constrictions / stenoses in the renal vessels, underdeveloped kidneys, one-sided absence of a kidney ( renal agenesis ), horseshoe kidneys ) in about 18% of those affected
Other specifications
- Many people with WBS like music , like to memorize songs and melodies and have a strong sense of rhythm . This is due to a strong development of the left auditory cortex, which is responsible for temporal precision and a sense of rhythm. It is significantly greater in WBS people compared to healthy people of the same age and is activated more strongly when hearing sounds.
- Children with WBS are very sensitive to noise, sometimes even over-sensitive. Some have perfect pitch , so they can precisely name and assign tones without an external reference tone.
- Their spatial imagination is comparatively poor (spatial-visual construction deficits), they have difficulty concentrating , but they recognize faces very quickly.
- The reading is for them usually quite easy, many begin much earlier than usually children to read ( hyperlexia ).
- Their language develops well, they usually speak fluently, like to talk, are extroverted and happy and are usually very fluent. As a result, their cognitive abilities are often overestimated, which can lead to excessive demands on the children (for example in school lessons).
- Overall, they are more anxious than optimistic and are particularly worried about themselves and other people about the future.
- A noticeable feature is the frequent lack of distance to strangers: While regular children go through the usual phases of being strangers , children with WBS are often open, sociable and sociable children throughout.
- People with WBS are lifelong dependent on the help of other people, but can develop an individual level of independence with the necessary assistance.
- The life expectancy of people with WBS is normal, unless there are medical problems and organic malformations to the contrary.
- Because of their eloquence and ability to a. Easy to remember faces, people with WBS are often referred to as cocktail party personalities .
therapy
A WBS is not causally curable. The most common therapy methods through which children with WBS can be supported in their development are remedial early intervention , physiotherapy and occupational therapy . Speech therapy (treatment according to Castillo Morales) is also recommended for the treatment of drinking / sucking disorders in early childhood. In particular, musical talent and fluency should be encouraged.
Regular blood pressure checks (even in childhood), thorough dental care and checking your hearing and, if necessary, squinting are important.
Particular attention must be paid to both the calcium content of the blood and any diet that may be necessary . In this context, vitamin D should be used very carefully , as patients with Williams-Beuren syndrome have an altered regulation of the vitamin D metabolism. Corrective operations may be necessary in the area of the heart and kidneys. In old age, treatment of any scoliosis that may occur is important.
Trivia
The Canadian feature film Gabrielle - (K) a normal love (2013) is about a young woman with WBS. The main characters are Gabrielle Marion-Rivard and Alexandre Landry.
literature
- JC Williams, BG Barratt-Boyes, JB Lowe: Supravalvular aortic stenosis. In: Circulation. (1961); 24, pp. 1311-1318.
- AJ Beuren, J. Apitz, D. Harmjanz: Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. In: Circulation. (1962); 26, pp. 1235-1240.
- AJ Beuren: Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. In: Birth defects Orig Art Ser VIII. (1972); 5, pp. 45-56.
- U. Bellugi, L. Lichtenberger, D. Mills, A. Galaburda, JR Korenberg: Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. In: Trends Neurosci. (1999); 22, pp. 197-207.
- M. Wengenroth, M. Blatow, M. Bendszus, P. Schneider: Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome. In: PLoS ONE. (2010) 5 (8); P. E12326.
- Ursula Bellugi, Marie Irene St. George (Eds.): Journey from Cognition to Brain to Gene: Perspectives from Williams Syndrome.
- Klaus Sarimski: Developmental Psychology of Genetic Syndromes. 2000.
- Walter E. Berdon, Patricia M. Clarkson, Rita L. Teele: Williams-Beuren syndrome: historical aspects . In: Pediatric Radiology . tape 41 , no. 2 , February 1, 2011, p. 262-266 , doi : 10.1007 / s00247-010-1908-z .
- Barbara Scheiber: Make dreams come true. A Handbook for Parents of Children with Williams-Beuren Syndrome.
- WBS regional group Bavaria-South (ed.): The William-Beuren-Syndrom. An introduction. 1999.
- WBS regional group Bavaria-South (ed.): The William-Beuren-Syndrom. A guide for educators. 2000.
- Look around or we about us. (Journal of the Federal Association of Williams-Beuren Syndrome)
- Marga Hogenboom: Understanding people with intellectual disabilities better - congenital syndromes clearly explained. 2003.
- Jacquelyn Warren: Ben's big decision. Children's / youth book. 2000.
- Melanie Ahrens: Lucky, I see you differently. Living with disabled children. 2006, ISBN 3-404-61599-9 . (Experience report on living with a child with Down syndrome and a child with Williams-Beuren syndrome)
- Oliver Sacks : The one-armed pianist . (2007/2008), Chapter 28: A Hypermusical Species: Williams Syndrome.
Web links
Individual evidence
- ↑ quoted from Marga Hogenboom, 2003, p. 45
- ↑ Bundesverband Williams-Beuren-Syndrom: Brief description of the Williams-Beuren-Syndrome ( Memento of the original from December 10, 2011 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. , accessed December 12, 2011.
