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Williams syndrome

 
Neurological Disorder:

Williams syndrome

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Definition

Williams syndrome, first described in 1961, is a rare genetic condition with a wide array of clinical features.

Description

Typical facial features seen in children with Williams syndrome include a wide mouth with full lips, a small chin, and a short, slightly upturned nose. Children with blue or green eyes often times show a starburst pattern in the colored part (iris) of the eyes. An unusual narrowing of the aorta called supravalvular aortic stenosis is often present, and hernias are often seen in the inguinal area of the abdomen. The blood vessels and abdominal wall often show weakness or altered development. Muscle tone is typically low, and children are often on the low end of birth weight, with relatively poor weight gain and growth in their early years.

Most children with Williams syndrome have a remarkable contrast between verbal abilities and spatial abilities. While overall intellectual performance on standardized IQ tests will be in the general range found in Down syndrome, children with Williams syndrome show a complex pattern of strengths and deficiencies that would not be evident by counting IQ points. Verbal abilities, for example, are exceptionally strong, and people with Williams syndrome tend to show very strong social skills relative to what one might anticipate based on IQ scores. Long-term memory is also generally excellent. Musical interest and ability are often strong. In contrast, fine motor skills often lag behind their IQ-matched peers, and, the sense of spatial relationships is very poor. If a therapist, for example, were to ask a child with Williams syndrome for a picture of a boy on a bike, the child might not be able to identify many of the parts of the picture. The parts will not likely be spaced in a way that makes much sense. However, if the therapist asks for a description of what it is like to ride a bike, the child will likely describe the sensation with a detailed and imaginative story.

For reasons that are not well understood, children may have a problem with calcium levels that are too high. Irritability and colic are common in early development, especially in children with high calcium levels. Delays are typically seen in reaching developmental milestones, and children with Williams syndrome generally exhibit learning disabilities and may be easily distractible with some form of attention deficit disorder. Cognitive, verbal and motor deficits are universal, and about three quarters of children will be determined to have mental retardation in the course of their care.Young children with Williams syndrome often have extremely sensitive hearing, although this tends to become less significant as children get older.

Demographics

Williams syndrome is estimated to occur in one of every 20,000 births. In most families, only one child will be affected and there is no significant family history of Williams syndrome in other relatives.

Causes and symptoms

Williams syndrome is most often caused by a chromosome deletion involving loss of a gene called elastin on chromosome number 7, and may involve the loss of other neighboring genes as well.

Diagnosis

Because of the variability in the way that Williams syndrome affects different people, it often goes undiagnosed for many years. Although there is a chromosome deletion in over 98% of children born with Williams syndrome, the deletions are so small that they are usually not detectable under the microscope using standard methods. Diagnosis requires the use of a special test called fluorescence in situ hybridization (FISH) in which a DNA probe for the elastin gene is labeled with a brightly colored fluorescent dye.

Treatment team

Medical care for children with Williams syndrome should be provided by a physician with specific knowledge or experience with Williams syndrome, and growth charts specific to children with Williams syndrome are available. The services of a medical geneticist should be available to the treating physician.

Treatment

Treatment is supportive and varies according to the symptoms displayed. Special attention is given to monitoring for heart and blood vessel disease, along with blood calcium levels. Multivitamin supplementation should generally be avoided unless directed by a physician because of the potential for problems caused by vitamin D.

Recovery and rehabilitation

Teens and adults with Williams syndrome face a variety of challenges that come with aging. Involvement of the family in support groups with other families that have direct experience with Williams syndrome can be helpful in anticipating and avoiding the common pitfalls. Most adults with Williams syndrome continue to live at home with parents or in special group home situations, with rare individuals living and functioning independently.

Prognosis

There is no cure for Williams syndrome as it is a genetically determined disease. Research is underway to determine the roles of approximately 20 genes in the area of chromosome 7 that are critical to the development of Williams syndrome.

Special concerns

Individuals who have Williams syndrome have a 50% chance of passing it on to their offspring if they have children because one of their two copies of chromosome 7 is missing some vital information, and each sperm or egg will receive one copy of chromosome 7 at random. This inheritance pattern is called autosomal pseudodominant because it so closely resembles the pattern of transmission seen for autosomal dominant single gene traits.

Resources

BOOKS

Semel, Eleanor, and Sue R. Rosner. Understanding Williams Syndrome: Behavioral Patterns and Interventions. Mahwah, NJ: Lawrence Erlbaum Assoc, 2003.

PERIODICALS

Committee on Genetics American Academy of Pediatrics. "Health care supervision for children with Williams syndrome." Pediatrics 107 (2001): 1192–1204.

OTHER

"NINDS Williams Syndrome Information Page." National Institute of Neurological Disorders and Stroke. (February 11, 2004). http://www.ninds.nih.gov/health_and_medical/disorders/williams.htm#Is_there_any_treatment.

ORGANIZATIONS

Williams Syndrome Association. P.O. Box 297, Clawson, MI 48017-0297. (248) 244-2229 or (800) 806-1871; Fax: (248) 244-2230. info@williams-syndrome.org. http://www.williams-syndrome.org.

National Organization for Rare Disorders (NORD), P.O. Box 1968 (55 Kenosia Avenue), Danbury, CT 06813-1968. (203) 744-0100 or (800) 999-NORD (6673); Fax: (203) 798-2291. orphan@rarediseases.org, http://www.rarediseases.org.


Robert G. Best, PhD


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Children's Health Encyclopedia:

Williams Syndrome

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Home > Library > Health > Children's Health Encyclopedia

Definition

A rare congenital (present from birth) genetic disorder that results in physical and developmental delays and problems.

Description

Williams syndrome (WS) is sometimes also referred to as Williams-Beuren syndrome. The disorder was first described by J. C. P. Williams of New Zealand in 1961. WS is a genetic disorder that can be inherited but often arises through spontaneous change in a chromosome (mutation). Children with WS usually have a variety of physical problems, especially problems with hearts defects. They have "elfin" faces and usually are of short stature. Children with WS are often overfriendly and have varying intellectual disabilities, with relatively good skills in music and language.

Demographics

WS is estimated to occur in about one in 20,000 births. It affects about the same number of boys and girls.

Causes and Symptoms

WS is thought to be caused by a deletion of genetic information on chromosome 7. WS can be passed down from parent to child, but it often arises spontaneously. The way in which WS spontaneously arises is not clear.

Physical characteristics typical of Williams syndrome include a broad forehead, puffiness around the eyes, starburst eye pattern (usually in green or blue-eyed children), upturned nose, depressed nasal bridge, full lips, widely spaced teeth, and small chin. In addition, a child with Williams syndrome often exhibits sloping shoulders or an elongated neck. Many individuals with Williams syndrome have heart disorders, typically supravalvular aortic stenosis (SVAS), which is a narrowing of the aorta. Kidney and bladder problems are also common. Poor muscle tone and problems with the skeletal joints become evident as a child with Williams syndrome moves into adolescence. As the child gets older hypertension often becomes a problem.

Williams syndrome babies typically have a low birth weight and are often diagnosed as failing to thrive. Elevated levels of calcium in the blood (hypercalcemia) may develop in infancy, but this usually resolves without intervention in the first two years. Digestive system symptoms such as vomiting, constipation, and feeding difficulties may occur. The infant may not be able to settle into a normal sleep pattern and may seem to be extremely sensitive to noise, exhibiting agitation or distress when exposed to high-pitched sounds, such as electrical appliances, motors, and loud bangs.

By the time a child with Williams syndrome is ready to enter school, mild to severe learning difficulties may appear, including impulsiveness and poor concentration. Contributing to classroom difficulties are problems with vision and spatial relations. Concepts involving numbers—especially math and time—appear to be more difficult for children with WS. In the later elementary school years, a child with Williams syndrome may be more adept at producing language than at comprehending it. Poor muscle tone and physical development continue to contribute to difficulties with gross and fine motor skills. The child with WS may have difficulty forming relationships with peers, preferring the company of younger children or adults. Throughout childhood, the child with Williams syndrome may exhibit deficits in the ability to reason and in self-help skills.

Children with WS are overly social and outgoing, inappropriately friendly to adults and unwary of strangers. They are usually talkative, with intense enthusiasm bordering on obsession for topics that interest them.

Special care needs to be taken when children with Williams syndrome are given anesthesia.

When to Call the Doctor

If a parent notices that a child has the symptoms of WS the doctor should be consulted.

Diagnosis

Williams syndrome is present from birth, although it often remains undiagnosed until a later stage of development. After a child has missed several developmental milestones, the pediatrician may refer the child to a specialist for diagnosis. Developmental delays that are typical include delay in sitting or walking. Also commonly observed are poor fine motor coordination and delayed development in language (although individuals with WS go on to develop excellent language skills). After reviewing the child's medical and family history, physical condition, and observing the child's behavior, a specialist in birth defects may identify Williams syndrome. In many cases, a heart murmur or suspected heart disorder may lead a cardiologist to suspect Williams syndrome, since an estimated 70 to 75 percent of people with WS have mild to severe cardiovascular problems.

Until the early 2000s, the diagnosis of WS made based on the child having a certain number of the symptoms of the disease. As of 2004, it was possible to test a child's genes for the deletion that causes WS. A test technique known as fluorescent in situ hybridization (FISH) may be used to detect this deletion. This test is only done when it is considered very likely that a child has WS because many of the clinical features are present.

Treatment

Williams syndrome cannot be cured, but the ensuing symptoms, developmental delays, learning problems, and behaviors can be treated. Many different experts work together to help develop a comprehensive treatment plan that is geared to the needs of a specific child. Children need to be monitored regularly by a doctor to ensure that problems, especially cardiac problems and hypertension, do not arise. If such problems do arise, they need to be treated promptly. Non-physical treatment often involves teaching children life skills that will eventually allow them to live on their own or with minimal care and to hold jobs. Specialists who can be helpful in treating Williams syndrome include the following:

  • cardiologist, to diagnose and prescribe treatment for heart or circulatory problems
  • endocrinologist, to prescribe treatment if elevated calcium levels are detected in infancy
  • pediatric radiologist, to conduct diagnostic renal and bladder ultrasound tests to diagnose and prescribe treatment for any abnormalities present
  • occupational therapist, to assess development delays and prescribe a plan for therapy to acquire skills necessary for daily living

Prognosis

In most cases, the child with WS will require multidisciplinary care throughout adult life, with continued medical assessment to diagnose and treat medical complications early. The ability to live independently and to work are usually not limited by the physical problems, which are treated successfully in the majority of cases. Rather, psychological characteristics and the inability to behave appropriately in social settings are more likely to prevent the individual from living and functioning completely on his or her own. However, each year more individuals with William syndrome are able to live independently in supervised apartment settings.

Prevention

There was as of 2004 no known way to prevent Williams syndrome.

Parental Concerns

Children with Williams syndrome usually grow up physically healthy as long as they receive treatment for any problems, especially cardiac problems, that arise. The amount of independence that a child with Williams syndrome will eventually be able to achieve usually depends on the particular symptoms of that child.

Resources

Books

Bellugi, Ursula, and Marie St. George, eds. Journey from Cognition to Brain to Gene: Perspectives from Williams Syndrome. Cambridge, MA: MIT Press, 2001.

Schiber, Barbara. Fulfilling Dreams: A Handbook for Parents of Children with Williams Syndrome. Clawson, MI: Williams Syndrome Association, 2000.

Semel, Eleanor, and Sue R. Rosner. Understanding Williams Syndrome: Behavioral Patterns and Interventions. Mahwah, NJ: L. Erlbaum, 2003.

Periodicals

Jason, Helen, et al. "Word Reading and Reading-Related Skills in Adolescents With Williams Syndrome." Journal of Child Psychology and Psychiatry and Allied Disciplines–44 (May 2003): 57687.

Reis, Sally M., et al. "—Minds Music: Using a Talent Development Approach for Young Adults with Williams Syndrome." Exceptional Children–69 (Spring 2003): 293314.

Organizations

Williams Syndrome Association. PO Box 297 Clawson, MI 480170297. Web site: www.williams-syndrome.org.

Williams Syndrome Foundation. Williams Syndrome Foundation, University of California, Irvine, CA 926972300. Web site: www.wsf.org

[Article by: Tish Davidson, A.M.]


World of the Mind:

Williams syndrome

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Williams syndrome takes its name from the cardiologist J. C. P. Williams/, who was among the first to describe the condition in the early 1960s.

1. Physical characteristics
2. Early psychological accounts
3. Recent psychological accounts
4. Areas for further research

1. Physical characteristics

Williams and his group described a pattern of physiological characteristics that they consistently observed in a group of patients, including narrowing of the arteries and an 'elflike' facial profile. Subsequent research has shown that Williams syndrome is also associated with raised levels of blood calcium in the early months of life — infantile hypercalcaemia was a common alternative diagnostic label until relatively recently — as well as hypersensitivity to sounds, and that the condition has a genetic basis. Williams syndrome is caused by the deletion of approximately twenty genes on the long arm of chromosome 7. Although there is continuing debate as to which of these genes are necessary and sufficient for a diagnosis of Williams syndrome, and which are responsible for the various different aspects of the condition, genetic testing provides a means of strengthening a diagnosis based on physical features.

2. Early psychological accounts

In addition to these physical characteristics, individuals with Williams syndrome appear to show a particularly unusual psychological or cognitive profile, which has consequently been the focus of considerable research interest. Early accounts of the condition reported marked difficulties in most areas of cognitive functioning, particularly areas of visuospatial cognition, in contrast to strengths in areas of language functioning and face processing. In fact, many of these reports suggested that language and face recognition abilities were entirely spared in Williams syndrome. This raises the possibility that these areas of cognition are encapsulated domains of functioning, probably with distinct underlying neural substrates, which do not depend on general levels of intelligence but can be selectively spared in the face of more general cognitive difficulties. In addition, these accounts highlighted the particularly fluent, empathic, and adult use of language seen in individuals with Williams syndrome, as well as a tendency for individuals to make unusual word choices. For example, when asked to list all the animals that they knew, one child is reported to have included ibex, yak, and chihuahua in their response in preference to more common animals.

3. Recent psychological accounts

Subsequent research has shown that this psychological characterization is slightly oversimplistic. Many of these early studies of cognitive skills compared individuals with Williams syndrome with controls with Down's syndrome. However, Down's syndrome is itself associated with a somewhat uneven pattern of cognitive strengths and weaknesses, which complicates the interpretation of these results. Studies employing more appropriate comparison groups have confirmed that visuospatial abilities tend to be extremely poor in Williams syndrome. For example, individuals have severe difficulties in completing puzzle-like tasks that require the arrangement of parts to form a coherent image, and in drawing. In addition, in many individuals, particularly older and more able individuals, verbal skills are considerably stronger in comparison. However, this discrepancy between strong verbal abilities and much poorer visuospatial skills is not consistently observed in younger and less able individuals, and may even be reversed in infants with Williams syndrome. One therefore needs to take a truly developmental perspective to fully account for the cognitive pattern of strengths and weaknesses associated with the condition. Furthermore, it is increasingly clear that verbal skills are not consistently spared in Williams syndrome — that is, they are rarely at age-appropriate levels. On standardized tests of language functioning individuals tend to receive verbal IQ scores of below 100, and careful comparisons of the language skills of individuals with Williams syndrome and controls have not confirmed the view that language is particularly fluent or that word choices are particularly unusual.

4. Areas for further research

Consequently, Williams syndrome does not provide as strong support for the potential separateness of language and other cognitive domains as was initially thought, although the fact that these skills tend to dissociate in the condition is perhaps consistent with this view. Indeed, it has been argued that one needs to look more carefully within the domain of language to properly determine whether Williams syndrome provides evidence for the distinctiveness of certain language systems. Linguists would argue that one needs to distinguish between the conceptual aspects of language that are necessarily affected by an individual's level of cognitive ability, and computational aspects such as the application of syntactic rules which are arguably innately specified and independent of other cognitive processes. Under this account, individuals with Williams syndrome might be expected to have some language difficulties, but not in the area of syntactic rule application. Recent studies testing this specific hypothesis have provided mixed results, and further work is needed to determine properly whether computational aspects of language are spared in Williams syndrome. The same is true of face-processing skills, which are less impaired than other visual and spatial abilities, but may not be consistently as strong as initial accounts suggested. It is not clear whether apparent strengths in face identity recognition extend to other aspects of face processing such as emotion recognition. Indeed, it may be that individuals with Williams syndrome process face information in a qualitatively different way from other individuals, leading to an unusual pattern of strengths and weaknesses across different types of task.

In fact, although psychologists are primarily interested in Williams syndrome because of the ways in which the condition might shed light on the function and organization of language processes, it seems that Williams syndrome may ultimately tell us more about the nature of visuospatial cognition than it does about language. With the exception of aspects of face processing, visuospatial abilities are consistently and markedly impaired in Williams syndrome. The fact that the condition is caused by the deletion of a limited number of genes raises the possibility of mapping out the links between these genes and the typical development of visuospatial skills. Although this mapping is unlikely to be a simple one, given the complex nature of visuospatial cognition, a better understanding of this relationship would clearly have potential benefits in terms of educational and medical provision for individuals with Williams syndrome.

(Published 2004)

— C. Jarrold

    Bibliography
  • Bellugi, U., and St George, M. (2001). Journey from Cognition to Brain to Gene: Perspectives from Williams Syndrome.
  • Farran, E. K., and Jarrold, C. (2003). 'Visuo-spatial cognition in Williams syndrome: reviewing and accounting for strengths and weaknesses in performance'. Developmental Neuropsychology, 23.
  • Karmiloff-Smith, A. (1998). 'Is atypical development necessarily a window on the normal mind/brain? The case of Williams syndrome'. Developmental Science, 1.
  • Morris, C. A., and Mervis, C. B. (1999). 'Williams syndrome'. In Goldstein, S., and Reynolds, C. R. (eds.), Handbook of Neurodevelopmental and Genetic Disorders in Children.

Wikipedia:

Williams syndrome

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Williams syndrome
Classification and external resources
ICD-10 Q93.8
ICD-9 758.9
OMIM 194050
MedlinePlus 001116
eMedicine ped/2439
MeSH D018980

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 unusual (for persons who are diagnosed as developmentally delayed) 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]

Contents

Symptoms

Individuals with Williams syndrome are highly verbal and overly sociable (having what had previously 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] However, individuals with the WS can also tend to demonstrate a love of music[2], and 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]

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.[11]

Treatment

Currently, 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.[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

Williams Syndrome genes[13][14]
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 (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.[15]

Effects on the 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 consistant with the visual-spatial disabilities and problems with behavioral timing often seen in WS. 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 WS are often affable and hyperverbal – often blurting – which demonstrates the decreased inhibition ability that stems from dorsal-frontal deficits.[16] 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. [17]

Epidemiology

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

In popular culture

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.[18]

Briefly mentioned in the episode "No More Mr. Nice Guy" on House as a possible diagnosis for the patient's affliction.

MTV aired a show called "How's Your News?" which features three cast members with Williams Syndrome.

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. 
  2. ^ a b Dobbs, David (July 8, 2007). "The Gregarious Brain.". New York Times. http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html. 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." 
  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 "Williams Syndrome". MedlinePlus Medical Encyclopedia. 2009. [1]
  5. ^ Colleen A. Morris, Howard M. Lenhoff, Paul P. Wang (2006). Williams–Beuren syndrome: research, evaluation, and treatment. pp. 107–132. 
  6. ^ Gothelf D, Farber N, Raveh E, Apter A, Attias J (February 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. http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16476938. 
  7. ^ Johnson LB, Comeau M, Clarke KD (April 2001). "Hyperacusis in Williams syndrome". J Otolaryngol 30 (2): 90–2. doi:10.2310/7070.2001.20811. PMID 11770962. 
  8. ^ Sacks O (May 1995). "Musical ability". Science 268 (5211): 621–2. doi:10.1126/science.7732360. PMID 7732360. 
  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. 
  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. 
  11. ^ Van der Geest JN, Lagers-van Haselen GC, van Hagen JM, et al. (October 2005). "Visual depth processing in Williams–Beuren syndrome". Exp Brain Res 166 (2): 200–9. doi:10.1007/s00221-005-2355-1. PMID 15965761. 
  12. ^ 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. http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/5/1192. 
  13. ^ Merla G, Howald C, Henrichsen CN, et al. (August 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. PMID 16826523. 
  14. ^ Schubert C, Laccone F (November 2006). "Williams–Beuren syndrome: determination of deletion size using quantitative real-time PCR". Int. J. Mol. Med. 18 (5): 799–806. PMID 17016608. http://www.spandidos-publications.com/ijmm/article.jsp?article_id=ijmm_18_5_799. 
  15. ^ "Williams syndrome – Genetics Home Reference". The U.S. National Library of Medicine. 2010. [2]
  16. ^ Cozolino, Louis. The Neuroscience of Human Relationships: Attachment and the Developing Social Brain. 2006. 289–91.
  17. ^ 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
  18. ^ Website: The Specials

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

Further reading

External links

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Pathology: chromosome abnormalities (Q90-Q99 · 758)
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This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)

 
 

 

Copyrights:

Neurological Disorder. Gale Encyclopedia of Neurological Disorders. Copyright © 2005 by The Gale Group, Inc. All rights reserved.  Read more
Children's Health Encyclopedia. © 2006 through a partnership of Answers Corporation. All rights reserved.  Read more
World of the Mind. The Oxford Companion to the Mind. Second Edition. Copyright © Oxford University Press, 2004. All rights reserved.  Read more
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