Posted by: Chris Maloney | October 26, 2011

Williams Syndrome: Not A Super-Social Gene, A Serious Disorder

Edy Williams

Image by Alan Light via Flickr

So there was a strange fluff piece on Williams Syndrome on MSNBC.  They made it sound like there’s a new super social gene out there.  But it’s a deletion, not an addition, that makes Williams Syndrome sufferers more social.  Focusing on that, rather than all the myriad of health issues facing the twins, made it seem like they were somehow “lucky” to be born with Williams Syndrome.

Check with the Williams Syndrome organization for the real story.

A quick look at medline shows that high socialization is really a minor factor for these children.  As they grow to adulthood they have an increased risk of a range of serious medical concerns.  I’m attaching a few studies below.

But the piece still makes me wonder.  Is being highly social going to start being “diagnosed?”  Can we make a disease out of that as well?  Is “too happy” as a diagnosis very far behind?

Curr Psychiatry
Rep. 2007 Apr;9(2):165-71.

 

Neurodevelopmental
and behavioral issues in Williams syndrome.

 

Paterson SJ,
Schultz RT.

 

 

Source

 

Yale Child Study
Center, New Haven, CT 06520-7900, USA. sarah.paterson@yale.edu

 

 

Abstract

 

Much existing
research on Williams syndrome (WS) has focused on the individuals’ unusual
cognitive profile, with less emphasis placed on the developmental and neural
underpinnings of the disorder. We review recent findings from brain imaging and
begin to discuss links from these data to the behavioral phenotype. Overall
brain size is significantly reduced in individuals with WS, as it is in many
mental retardation syndromes. However, the specific profile of deficits in WS,
particularly the visuospatial deficits, appears to be linked to parietal lobe
abnormalities. Results from both genetic and brain imaging studies have
provided useful insights into WS neurobiology. However, future work needs to
remediate the lack of studies investigating developmental processes.

 

 

PMID: 17389129

 

 

 

 

 

CNS Spectr. 2007
Dec;12(12):903-7.

 

Williams syndrome:
a genetic deletion disorder presenting clues to the biology of sociability and
clinical challenges of hypersociability.

 

Deutsch SI, Rosse
RB, Schwartz BL.

 

 

Source

 

Department of
Veterans Affairs Medical Center, Mental Health Service Line, Washington, DC,
USA. stephen.deutsch@med.va.gov

 

 

Abstract

 

Williams syndrome
is a neurodevelopmental disorder that results from the deletion of
approximately 25-30 genes spanning about 1.5 megabases in the q11.23 region of
chromosome 7. Patients with this syndrome present with a combination of a
distinctive elfin-like facial appearance; growth retardation; mild mental
retardation; an inconsistent cognitive profile that includes visuospatial
impairments with good facial discrimination and relatively preserved expressive
language skills; and cardiovascular abnormalities. In addition, a striking
behavioral feature of the syndrome is the high sociability and empathy that
these patients show for others. The study of patients with “partial”
deletions of the chromosome band 7q11.23, mutated genes in this region and
knockout mice with deletions of specific genes in the homologous G1-G2 region
of mouse chromosome 5 are clarifying some genotype/phenotype relationships.
Furthermore, genes located in this region that are prominently expressed have
been implicated in brain development and function. The neuropsychological
profile of patients with Williams syndrome is heterogeneous, highlights important
dissociations between cognitive functions and suggests that the behavioral
dimensions of sociability, empathy, engageability, and talkativeness may be
independent of, or not easily explained by, the cognitive deficits. Williams
syndrome has enormous heuristic value because its pathological feature of
heightened “sociability” can be a “deficit” symptom of
major complex neuropsychiatric disorders, such as schizophrenia and autism.
Data consistent with a core inability of patients with Williams syndrome to
inhibit social approach suggest that this disorder may afford an opportunity to
study the biological basis of the “drive” toward socialization. From
a research perspective, the syndrome lends itself to neurobiological studies of
sociability as a dimension that varies independently of cognition (or at least
many separable cognitive processes). Importantly, from a clinical perspective,
the syndrome challenges us to administer strategic psychosocial interventions
that take advantage of the opportunities that “pathological”
sociability provide, while avoiding its threats. An illustrative example of an
effective strategically planned psychosocial intervention for a patient with
Williams syndrome is briefly presented.

 

 

PMID: 18163035

Autism Res. 2011
Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3.

 

Haploinsufficiency
of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social
interactions.

 

Sakurai T, Dorr NP,
Takahashi N, McInnes LA, Elder GA, Buxbaum JD.

 

 

Source

 

Seaver Autism
Center for Research and Treatment, Mount Sinai School of Medicine, New York,
New York, USA.

 

 

Abstract

 

Identifying genes
involved in social behavior is important for autism research. Williams-Beuren
syndrome (WBS) is a developmental syndrome with unique neurocognitive features,
including low IQ, deficits in visuospatial and visual-motor abilities, hypersensitivity
to sounds, hypersociability, and increased general anxiety. The syndrome is
caused by a recurrent hemizygous deletion of the 7q11.23 region, containing
about 28 genes. One of genes in the region, GTF2I, has been implicated in the
hypersociability and visuospatial deficits of WBS based on genotype-phenotype
correlation studies of patients with atypical deletions. In order to clarify
the involvement of GTF2I in neurocognitive function, especially social
behavior, we have developed and characterized Gtf2i-deficient mice. We found
that homozygous deletion of Gtf2i causes lethality during embryonic development
with neural tube closure defects and exencephaly, consistent with other
reports. Gtf2i heterozygous animals show no gross changes in brain structure or
development. Furthermore, heterozygous animals show no alterations in learning
and memory, including spatial memory as assessed by the Morris water maze, but
show alterations in the recognition of novel objects. Interestingly, they show
increased social interaction with unfamiliar mice and do not show typical
social habituation processes, reminiscent of the hypersociability observed in
WBS patients. The mice do not appear to show increased anxiety, supporting a
specific effect of Gtf2i on defined domains of the WBS phenotype. These data
indicate that Gtf2i is involved in several aspects of embryonic development and
the development of social neurocircuitry and that GTF2I haploinsufficiency
could be a contributor to the hypersociability in WBS patients.

 

Copyright © 2010,
International Society for Autism Research, Wiley Periodicals, Inc.

 

 

Comment in

Autism Res. 2011
Feb;4(1):1-4.

 

 

PMID: 21328569

Am J Med Genet C
Semin Med Genet. 2007 Aug 15;145C(3):280-90.

 

Diagnosis and
management of medical problems in adults with Williams-Beuren syndrome.

 

Pober BR, Morris
CA.

 

 

Source

 

Harvard Medical
School, Boston, USA.

 

 

Abstract

 

Williams-Beuren
syndrome (WBS) is a multi-system disorder that requires ongoing management by a
primary care physician familiar with the natural history and common medical
problems associated with the condition. Some abnormalities are unique to WBS,
such as the elastin arteriopathy that often manifests as supravalvar aortic
stenosis and hypertension. Still other features, such as diverticulosis, are
seen in the general population but tend to present earlier in WBS. Life long
monitoring of the cardiovascular and endocrine systems is essential to the
clinical management of individuals with Williams-Beuren syndrome. Constipation
should be aggressively managed, and symptoms of abdominal pain should prompt an
evaluation for diverticulosis/diverticulitis. While the mean IQ of WBS is in
the mild mental retardation range, difficulties with attention and anxiety are
more likely to negatively impact independent functioning in the adult with WBS.
There is no evidence for decline in cognitive ability over time, but adaptive
functioning may be improved with treatment of anxiety by both behavior and
medical modalities.

 

(c) 2007
Wiley-Liss, Inc.

 

 

PMID: 17639596

 

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Responses

  1. […] Williams Syndrome: Not A Super-Social Gene, A Serious Disorder […]


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