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Williams syndrome

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Williams syndrome
SpecialtyMedical genetics, pediatrics Edit this on Wikidata

Williams syndrome (WS or WMS; 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; developmental delay coupled with strong language skills; 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] and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.[1]

Signs and symptoms

Poor little birdie teased, by Victorian era illustrator Richard Doyle depicts an elf with the facial features associated with Williams syndrome.

The most common symptoms of Williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. Most individuals with Williams syndrome are highly verbal and overly sociable, having what has been described as a "cocktail party" type personality, and exhibit a remarkable blend of cognitive strengths and weaknesses.[3] Individuals with WS hyperfocus on the eyes of others in social engagements.[4] In these characteristics, it has been suggested that it is the inverse condition of autism.

Patients tend to have widely spaced teeth, a long philtrum, and flattened nasal bridge.[5] 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. Other symptoms may include gastrointestinal problems, such as severe or prolonged colic,[6] abdominal pain and diverticulitis, nocturnal enuresis (bed wetting) and urinary difficulties,[7] dental irregularities and defective tooth enamel,[8] as well as hormone problems, the most common being hypercalcemia (elevated calcium levels in the blood). Hypothyroidism has been reported to occur in children, although there is no proof of it occurring in adults; diabetes has been reported to occur in adults with WS as young as 21 years old.[9]

Individuals with Williams syndrome often have hyperacusis and phonophobia which resembles noise-induced hearing loss, but this may be due to a malfunctioning auditory nerve.[10][11] However, individuals with WS can also tend to demonstrate a love of music,[2] and appear significantly more likely to possess perfect pitch.[12] There also appears to be a higher prevalence of left-handedness and left-eye dominance.[13] Individuals with Williams syndrome also report higher anxiety levels as well as phobia development, which may be associated with hyperacusis.[14]

Furthermore, 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.[15]

In an experiment, a group of children with Williams syndrome showed no signs of inherent racial bias, unlike children without the syndrome.[16]

While patients with Williams syndrome often have abnormal proficiency in verbal skills, they do not perform better on verbal tasks than average. This syndrome is characterized more by a deficiency in other areas of processing. Williams syndrome is notable in that respect in that it represents a double dissociation between verbal and spatial processing.

Some cultural historians believe that the adjective "elfin" came to be used to describe the facial features of people with Williams syndrome because, before Williams Syndrome's scientific cause was understood, people believed that sufferers of the syndrome, who have very charming and extraordinary kind personalities in comparison to most people, were gifted with extraordinary, even magical, powers. This is often believed to be the origin of the folklore of elves, fairies and other forms of the 'good people' or 'wee folk' present in English folklore.[17]

Nervous system

Because of the multiple genes that are missing in people with Williams syndrome, there are many effects on the brain, including abnormalities in the cerebellum, right parietal cortex, and left frontal cortical regions. This pattern is consistent with the visual-spatial disabilities and problems with behavioral timing often seen in Williams syndrome. Frontal-cerebellar pathways are involved in behavioral timing, and the parietal-dorsal areas of the neocortex handle visual processing that supports visual-spatial analysis of the environment (but not faces). People with Williams syndrome are often affable and hyperverbal – often blurting – which demonstrates the decreased inhibition ability that stems from dorsal-frontal deficits.[18] There have also been studies that show that the amygdala of a person with Williams syndrome has greater volume than the average person's, and given that the amygdala controls a human's sense of fear, it can be seen why WS individuals can so willingly talk to anyone, including strangers.[19]

Studies in 2010 showed an increased volume and activation of the left auditory cortex in people with Williams Syndrome, which has been interpreted as a neural correlate of their rhythm propensity and fondness of music. Similar sizes of the auditory cortex have been previously reported only in professional musicians.[20]

Cause

Williams Syndrome genes[21][22]
ASL · BAZ1B · BCL7B · CLDN3 · CLDN4
CLIP2 · EIF4H · ELN · FZD9 · FKBP6
GTF2I · GTF2IRD1 · HIP1 · KCTD7
LAT2 · LIMK1 · MDH2 · NCF1
NSUN5 · POR · RFC2 · STX1A · TBL2
TRIM50 · TRIM73 · TRIM74
WBSCR14 · WBSCR18 · WBSCR21
WBSCR22 · WBSCR23 · WBSCR24
WBSCR27 · WBSCR28

Williams syndrome is caused by the deletion of genetic material from the region q11.23 of chromosome 7. The deleted region includes more than 25 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 and supravalvular pulmonary stenosis) 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.[23]

Treatment

There is no cure for Williams syndrome. Suggestions include avoiding taking extra calcium and vitamin D, and treating high levels of blood calcium, if present. Blood vessel narrowing can be a significant health problem as well, and is treated on an individual basis. Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children (for example, verbal strengths can help make up for other weaknesses). Other treatments are based on a patient's particular symptoms.[5] Guidelines published by the American Academy of Pediatrics include cardiology evaluations, developmental and psychoeducational assessment, and many other examination, laboratory, and anticipatory guidance recommendations.[24]


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. ^ a b 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}}: Cite has empty unknown parameter: |coauthors= (help)
  3. ^ http://www.williams-syndrome.org/what-is-williams-syndrome
  4. ^ 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.
  5. ^ a b "Williams Syndrome". MedlinePlus Medical Encyclopedia. 2009
  6. ^ http://congenital-heart-defects.co.uk/williamssyndrome.aspx
  7. ^ http://genetics.emory.edu/ask/question.php/2443/Syndromes/1/
  8. ^ http://www.wsf.org/parents/synopsis.htm
  9. ^ 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)
  10. ^ 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)
  11. ^ 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)
  12. ^ Sacks O (1995). "Musical ability". Science. 268 (5211): 621–2. doi:10.1126/science.7732360. PMID 7732360. {{cite journal}}: Unknown parameter |month= ignored (help)
  13. ^ 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)
  14. ^ 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)
  15. ^ 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)
  16. ^ Andreia Santos, Andreas Meyer-Lindenberg, Christine Deruelle, "Absence of racial, but not gender, stereotyping in Williams syndrome children", Current Biology, Vol 20, No 7, R307 - R308
  17. ^ http://books.google.co.uk/books?id=lrdhYWzpSDkC&pg=PA153&lpg=PA153&dq=williams+syndrome+elves&source=bl&ots=LV7uOZuart&sig=GqwdnwvLZli2FL8dftnB8AWJy3I&hl=en&ei=DxBITZCrMMWYhQeO-eS9BQ&sa=X&oi=book_result&ct=result&resnum=5&ved=0CDEQ6AEwBDgK#v=onepage&q=williams%20syndrome%20elves&f=false
  18. ^ Cozolino, Louis. The Neuroscience of Human Relationships: Attachment and the Developing Social Brain. 2006. 289–91.
  19. ^ Anna Järvinen-Pasley, Ursula Bellugi, Judy Reilly, Debra L. MILLS, Albert Galaburda, Allan L. Reiss and Julie R. Korenberg (2008). Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior. Development and Psychopathology, 20 , pp 1–35 doi:10.1017/S0954579408000011
  20. ^ Martina Wengenroth, Maria Blatow, Martin Bendszus, Peter Schneider (2010) "Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome". PLoS ONE 5(8) e12326.
  21. ^ Merla G, Howald C, Henrichsen CN; et al. (2006). "Submicroscopic deletion in patients with Williams–Beuren syndrome influences expression levels of the nonhemizygous flanking genes". Am. J. Hum. Genet. 79 (2): 332–41. doi:10.1086/506371. PMC 1559497. PMID 16826523. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  22. ^ Schubert C, Laccone F (2006). "Williams–Beuren syndrome: determination of deletion size using quantitative real-time PCR". Int. J. Mol. Med. 18 (5): 799–806. PMID 17016608. {{cite journal}}: Unknown parameter |month= ignored (help)
  23. ^ "Williams syndrome – Genetics Home Reference". The U.S. National Library of Medicine. 2010.
  24. ^ Committee on Genetics, American Academy of Pediatrics (1 May 2001). "Health care supervision for children with Williams syndrome". Pediatrics. 107 (5): 1192–2004. PMID 11331709.

Further reading

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