Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients with WS have a deletion exceeding 1.8 Mb, thereby af...

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Published in:Journal of the International Neuropsychological Society 2018-10, Vol.24 (9), p.896-904
Main Authors: Serrano-Juárez, Carlos Alberto, Venegas-Vega, Carlos Alberto, Yáñez-Téllez, Ma. Guillermina, Rodríguez-Camacho, Mario, Silva-Pereyra, Juan, Salgado-Ceballos, Hermelinda, Prieto-Corona, Belén
Format: Article
Language:English
Subjects:
Adaptation, Psychological
Adolescent
Behavior
Child
Chromosome 7
Chromosome deletion
Cognition
Cognition & reasoning
Cognitive ability
DNA microarrays
Female
Gene Deletion
Genes
Genotype & phenotype
Humans
Intellectual disabilities
Male
Microarray Analysis
Neurodevelopmental disorders
Neuropsychological Tests
Phenotypes
Proteins
Psychomotor Performance
Pulmonary arteries
Regular Research
Skills
Social Behavior
Social interactions
Space Perception
Transcription Factors, TFIII - deficiency
Transcription Factors, TFIII - genetics
Visual perception
Williams syndrome
Williams Syndrome - genetics
Williams Syndrome - psychology
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Summary:Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. Objectives: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. Methods: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7–18 years old. Each patient’s 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. Results: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. Conclusions: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896–904)
ISSN:1355-6177
1469-7661
DOI:10.1017/S1355617718000711