Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome

Bearden, Carrie E.; Wang, Paul P.; Simon, Tony J.

doi:10.1002/ajmg.10539

Cited by 17 publications

(12 citation statements)

References 31 publications

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“…Our results are consistent with previous reports of 22qDS showing a mean IQ in the borderline range (Henry et al, 2002;van Amelsvoort et al, 2004), relative preservation of reading and spelling compared with arithmetic skills (Woodin et al, 2001;Bearden et al, 2002), and childhood motor deficits (Golding-Kushner et al, 1985;Maharasingam et al, 2003) which appear to persist into adulthood. The only previous study of neurocognition in adults with 22qDS used different tests and study methods, and did not report z-scores, exact p-values, nor effect sizes (van Amelsvoort et al, 2004).…”

Section: Discussionsupporting

confidence: 93%

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Chow

Watson

Young

et al. 2006

Schizophrenia Research

171

192

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Objective-Schizophrenia is associated with neurocognitive deficits, but its etiologic heterogeneity may complicate the delineation of a neurocognitive profile. Schizophrenia associated with 22q11 Deletion Syndrome (22qDS) represents a more genetically homogeneous subtype for study. We hypothesized that in adults with 22qDS the neurocognitive profiles would differ between those with and without schizophrenia.Method-Using a comprehensive battery of tests, we compared the neurocognitive performance profiles in those with schizophrenia (n=27; 14 M, 13 F; mean age=30.6 years, SD=7.7 years) and those with no history of psychosis (n=29; 16 M, 13 F; mean age=25.0 years, SD=9.0 years).Results-The 22qDS groups with and without schizophrenia had similar mean estimated IQ (71.6, SD=8.2 and 74.8, SD=6.1, respectively) and academic achievement, however the neurocognitive profiles of the two groups differed significantly on multivariate analysis (F(24,31)=2.25, p=0.017). The group with schizophrenia performed significantly more poorly on tests of motor skills, verbal learning, and social cognition (effect sizes≥0.8) after correction for multiple comparisons. Other tests, but not the attentional measures used, showed nominally significant differences.Conclusions-In adults with 22qDS, the pattern of neurocognitive differences between those with and without schizophrenia appears similar to that between patients with schizophrenia and controls. Attentional dysfunction may be a more general feature of 22qDS. The findings support 22qDS-schizophrenia as a genetic model for neurodevelopmental investigations of schizophrenia.

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Section: Discussionsupporting

confidence: 93%

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Chow

Watson

Young

et al. 2006

Schizophrenia Research

171

192

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“…By adolescence however there are no significant differences between mean performance and mean verbal IQ (Antshel et al 2010;Green et al 2009). A highly consistent finding is that arithmetic skills are a particular weakness, with reading skills significantly stronger (Bearden et al 2002;Chow et al 2006;De Smedt et al 2009;Swillen et al 1999). Rote memory appears to be an area of relative strength, given overall intellect (Jacobson et al 2010).…”

Section: Cognitive and Behavioural Phenotype Of 22q112 Dsmentioning

confidence: 89%

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

2011

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Abstract22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the initial discovery of the syndrome, associated developmental delays made it clear that changes in brain development were a key part of the expression. Once patients were followed through childhood into adult years, further neurobehavioural phenotypes became apparent, including a changing cognitive profile, anxiety disorders and seizure diathesis. The variability of expression is as wide as for the myriad physical features associated with the syndrome, with the addition of evolving phenotype over the developmental trajectory. Notably, variability appears unrelated to length of the associated deletion. Several mouse models of the deletion have been engineered and are beginning to reveal potential molecular mechanisms for the cognitive and behavioural phenotypes observable in animals. Both animal and human studies hold great promise for further discoveries relevant to neurodevelopment and associated cognitive, behavioural and psychiatric disorders.

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“…The disadvantage of looking at task performance to define a syndrome-characteristic profile is demonstrated when we consider that the profile of good language and poor spatial and visual construction skills is said to be characteristic of other COGNITIVE HETEROGENEITY syndrome profiles such as Turner syndrome, Nonverbal Learning Deficit, and Velocardiofacial/DiGeorge syndrome, despite chromosomal, genetic, and neurological differences across each syndrome (Bearden, 2002;Don et al, 1999;Rourke, 1988Rourke, , 1989Tager-Flusberg, 1999). Thus, the WSCP as it stands is not unique to the syndrome and may not be characteristic of all WS individuals.…”

Section: Porter and Coltheartmentioning

confidence: 96%

Cognitive Heterogeneity in Williams Syndrome

Porter¹,

Coltheart²

2005

Developmental Neuropsychology

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This study used the Woodcock-Johnson Tests of Cognitive Ability-Revised to investigate a wide range of cognitive abilities in people with Williams syndrome (WS). It involved a comparatively large sample of 31 people with WS, but took a case-series approach. The study addressed the widespread claims of a characteristic "WS cognitive profile" by looking for heterogeneity rather than homogeneity. People with WS showed a variety of preserved (significantly above mental age [MA]), expected (at MA), and significantly impaired (significantly below MA) levels of functioning. Such results provide clear evidence for heterogeneity in cognitive functions within WS. We found the most homogeneity on a test of phonological processing and a test of phonological short-term memory, with half of the WS sample performing at MA levels on these tests. Interestingly, no WS individual showed a weakness on a test of nonverbal reasoning, and only one WS individual showed a weakness on a test of verbal comprehension. In addition, we found that strengths on analysis-synthesis and verbal analogies occurred only for WS individuals with an MA less than 5.5 years (our sample median MA); people with an MA greater than 5.5 years performed at MA level on these 2 tests. Results also provided preliminary evidence for distinct subgroups of WS people based on their cognitive strengths and weaknesses on a broad range of cognitive functions. On the basis of the findings, caution should be made in declaring a single cognitive profile that is characteristic of all individuals with WS. Just as there is heterogeneity in genetic and physical anomalies within WS, not all WS individuals share the same cognitive strengths and weaknesses. Also, not all WS individuals show the profile of a strength in verbal abilities and a weakness in spatial functions.

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Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome

Cited by 17 publications

References 31 publications

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Neurocognitive profile in 22q11 deletion syndrome and schizophrenia

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

Cognitive Heterogeneity in Williams Syndrome

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