Williams Syndrome and Savant Syndrome

Darold Treffert MD

A 10/19/97 60 Minutes program focused on Williams Syndrome, which bears some relationship to Savant Syndrome. In 1961, Williams described a genetic disorder in children with consistent findings of distinctive, characteristic facial features (often described as “elfin-like” or “pixie-like”); a heart defect (aortic stenosis); elevated calcium levels associated with “colic-like” symptoms as infants; autistic-like behaviors such as inflexibility, ritualism, obsessiveness, and hyperacusis; and developmental delays coupled with attention deficits and cognitive disability, usually with IQ less than 70. What is unique to Williams Syndrome, however, in contrast to other forms of developmental disability, is a rich, expansive, grammatically complex vocabulary with striking conversation and richly expressive story telling skills. Equally as striking, in contrast to the usual behavioral handicaps of autism, is the extremely outgoing, friendly, polite, expressive social skills that Williams Syndrome persons show. They are typically unafraid of strangers and show a greater interest in contact with adults than with peers. Many are reported to have savant-like musical skills. This combination of very distinctive “elfin-like” appearance with what has been called a “cocktail party” personality including expansive and expressive speech and musical ability, in persons with otherwise impaired cognition and many autistic features, provides a most intriguing mix of ability and disability. The most unusual circumstance of impaired general cognition but spared and even precocious language abilities, challenge theories about the ordinary linkage of language and cognition, and raise new possibilities in thinking about language acquisition and brain function in autism, PDD and other Developmental Disabilities.

Adding to the research interest in this condition is the fact that a specific genetic defect on chromosome 7 has been identified as the etiologic mechanism in this disorder. That genetic defect makes elastin production deficient Williams Syndrome and it is the elastin gene deletion that is felt by many to account for the cardiovascular-vascular as well as neurodevelopmental brain abnormalities. Gillberg and Rasmussen (1994) report four cases of Williams Syndrome who have classic concurrent Autistic Disorder (rather than simply autistic-like behavior). This article explores the research significance of the concurrence of the two disorders and provides an excellent overview of the condition. The confluence of Autistic Disorder, mental retardation and savant abilities seen in Williams Syndrome, with the enhanced language to atypical of mental retardation, and increased sociability and over-friendliness so atypical of autism, along with an over-representation of savant musical skills, provide a most intriguing mix from a clinical, theoretical and research point of view. If a diagnosis of Williams Syndrome is suspected, there should be a referral to a geneticist who can carry out the specific laboratory tests available to confirm diagnosis. There is a Williams Syndrome Association that provides information and support services to families of persons with Williams Syndrome. 


  • Williams, J, Barratt-Boyes, B & Lowe, J (1961) Supra valvular aortic stenosis, Circulation 24:1311-1318 Williams original description of this disorder.
  • Finn, R: “Different Minds” Discover magazine June 1991 pp 55-58 A useful description of current knowledge on Williams Syndrome.
  • Gillberg, C and Rasmussen, P: Brief Report: Four Case Histories and a literature review of Williams Disorder and Autistic Behavior. J of Autism and Devel. Disorders 24:381-392, 1994.

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