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Williams syndrome

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Williams syndrome
SpecialtyMedical genetics, pediatrics Edit this on Wikidata

Williams syndrome (WS; also Williams-Beuren syndrome or WBS) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7.[1] It is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. The syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand. [2]

Symptoms

Individuals with Williams syndrome are highly verbal and sociable (having what has been described as a "cocktail party" type personality), but lack common sense and typically have inhibited intelligence. Individuals with WS hyperfocus on the eyes of others in social engagements.[3] Phenotypically, patients tend to have widely spaced teeth, a long philtrum, and flattened nasal bridge.[4] Individuals with Williams syndrome also experience many cardiac problems, commonly heart murmurs and the narrowing of major blood vessels as well as supravalvular aortic stenosis (SVAS). Other symptoms may include many gastrointestinal problems, such as abdominal pain and diverticulitis, as well as hormone problems, the most common being hypercalcemia (elevated calcium levels in the blood). Hypothyroidism has been reported to occur in children, yet there is no proof of it occuring in adults, whereas diabetes has been reported to occur in adults with WS as young as 21 years old.[5]

People with Williams syndrome often have hyperacusis and phonophobia which resembles noise-induced hearing loss, but this may be due to a malfunctioning auditory nerve.[6][7] Individuals with the condition tend to demonstrate a love of music[4], and also appear significantly more likely to possess perfect pitch.[8]

There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams.[9] Individuals with Williams syndrome also report higher anxiety levels as well as phobia development, which may be associated with hyperacusis.[10]

Visual perception

Individuals with Williams syndrome have problems with visual processing, but this is related to difficulty in dealing with complex spatial relationships rather than to issues with depth perception.[11]

Treatment

No curative therapy is known for Williams syndrome, and care is mostly supportive.[4] Guidelines published by the American Academy of Pediatrics include cardiology evaluations, developmental and psychoeducational assessment, and many other examination, laboratory, and anticipatory guidance recommendations.[12]

Cause

Template:Infobox generic Williams syndrome is caused by the deletion of genetic material from the region q11.23 of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis (SVPS)) found in many people with this syndrome. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CLIP2, may contribute to the unique behavioral characteristics, learning disabilities, and other cognitive difficulties seen in Williams syndrome. [citation needed]

Epidemiology

Williams syndrome has an estimated prevalence of 1 in 7,500 to 1 in 20,000.[1]

Williams syndrome was featured in a 2007 episode of Law & Order: Special Victims Unit entitled "Savant," in which a girl with the condition is the only witness to the attack of her mother. The girl did not see the attacker but heard him speak, and her absolute pitch helped the police catch her mother's assailant.

A web-based reality show "The Specials" features a young man, Lewis, who has Williams Syndrome in addition to four other housemates who have Down Syndrome. [13]

References

  1. ^ a b Martens MA, Wilson SJ, Reutens DC (2008). "Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype". J Child Psychol Psychiatry. 49 (6): 576–608. doi:10.1111/j.1469-7610.2008.01887.x. PMID 18489677.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ^ Dobbs, David (July 8, 2007). "The Gregarious Brain". New York Times. Retrieved 2007-09-25. If a person suffers the small genetic accident that creates Williams syndrome, he'll live with not only some fairly conventional cognitive deficits, like trouble with space and numbers, but also a strange set of traits that researchers call the Williams social phenotype or, less formally, the "Williams personality": a love of company and conversation combined, often awkwardly, with a poor understanding of social dynamics and a lack of social inhibition. {{cite news}}: Check date values in: |date= (help); Cite has empty unknown parameter: |coauthors= (help)
  3. ^ Riby DM, Hancock PJ (2008). "Viewing it differently: Social scene perception in Williams syndrome and Autism". Neuropsychologia. 46 (11): 2855–60. doi:10.1016/j.neuropsychologia.2008.05.003. PMID 18561959.
  4. ^ a b c http://www.mamashealth.com/syndrome/willsyn.asp
  5. ^ Colleen A. Morris, Howard M. Lenhoff, Paul P. Wang (2006). Williams-Beuren syndrome: research, evaluation, and treatment. pp. 107–132.{{cite book}}: CS1 maint: multiple names: authors list (link)
  6. ^ Gothelf D, Farber N, Raveh E, Apter A, Attias J (2006). "Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities". Neurology. 66 (3): 390–5. doi:10.1212/01.wnl.0000196643.35395.5f. PMID 16476938. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  7. ^ Johnson LB, Comeau M, Clarke KD (2001). "Hyperacusis in Williams syndrome". J Otolaryngol. 30 (2): 90–2. doi:10.2310/7070.2001.20811. PMID 11770962. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  8. ^ Sacks O (1995). "Musical ability". Science. 268 (5211): 621–2. doi:10.1126/science.7732360. PMID 7732360. {{cite journal}}: Unknown parameter |month= ignored (help)
  9. ^ Van Strien JW, Lagers-Van Haselen GC, Van Hagen JM, De Coo IF, Frens MA, Van Der Geest JN (2005). "Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome". J Clin Exp Neuropsychol. 27 (8): 967–76. doi:10.1080/13803390490919119. PMID 16207621.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  10. ^ Blomberg S, Rosander M, Andersson G (2006). "Fears, Hyperacusis and musicality in Williams syndrome". Res Dev Disabil. 27 (6): 668–80. doi:10.1016/j.ridd.2005.09.002. PMID 16269236.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  11. ^ Van der Geest JN, Lagers-van Haselen GC, van Hagen JM; et al. (2005). "Visual depth processing in Williams-Beuren syndrome". Exp Brain Res. 166 (2): 200–9. doi:10.1007/s00221-005-2355-1. PMID 15965761. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  12. ^ Committee on Genetics, American Academy of Pediatrics (2001). "Health care supervision for children with Williams syndrome". Pediatrics. 107 (5): 1192–2004. PMID 11331709. {{cite journal}}: Unknown parameter |day= ignored (help); Unknown parameter |month= ignored (help)
  13. ^ Website: The Specials

For further help on support for WS, consult the Williams Syndrome Association website

Further reading

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