The relationship between cognitive and adaptive functioning in Williams Syndrome

Authors

• AE Chun
• C Farmer
• B Kozel
• A Thurm

Abstract

Cognitive and Adaptive Functioning in Williams Syndrome
Ashley Chun, Cristan Farmer, Beth Kozel, Audrey Thurm
Neurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, NIMH
Vascular and Matrix Genetics, NHLBI

Background. Williams Syndrome (WS) is caused by a microdeletion of 26-28 genes on the 7q11.23 chromosome. About 75% of individuals with WS have sufficient deficits in both cognitive and adaptive functioning to receive an intellectual disability diagnosis. Adaptive functioning refers to the performance of the skills necessary for age-appropriate levels of independence. Existing research has explored cognitive and adaptive functioning separately within WS, but the goal of the current study was to address the paucity of literature evaluating the relationship between the two constructs.

Methods. Participants in a natural history study of WS were included if they were aged 2 to 23 years and had contemporaneous standardized IQ (Weschler tests) and adaptive behavior (Vineland-3) assessments.

Results. Participants (N=47; 60% male, 83% white, 83% non-Hispanic) had a median[IQR] age of 10[7, 17] years. Performance IQ was moderately and positively correlated with Vineland Communication (Spearman’s r [95% CI] = .33[.04, .56]), but not with Vineland Daily Living or Socialization. Verbal IQ was moderately-to-strongly and positively correlated with Communication (r = .59[.37, .75]), Daily Living (r = .47[.21, .67]) and Socialization (r = .30[.02, .55]).

Conclusions. Efforts to identify the mechanisms of functional impairments in WS are essential to identify treatment targets in this population. The current results suggest that verbal ability may be particularly salient to adaptive functioning.

Scientific Focus Area: Clinical Research

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