Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.

Abstract

Wolf-Hirschhorn syndrome (WHS) is a complex congenital malformation produced by a loss of genomic material at the locus 4p16.3. In addition to its dysmorphic features, the deletion produces a range of intellectual disability (ID). Many clinical aspects of WHS are well-characterized; however, the cognitive-behavioral characteristics have been rarely examined in a systematic fashion. The purpose of our study was to examine the cognitive-behavioral features of WHS and to compare them to children with other subtelomeric deletions that also produce ID. We recruited 45 children with subtelomeric deletions and examined their cognitive-behavioral abilities using a neuropsychological assessment battery composed of standardized instruments. Nineteen children were diagnosed with WHS and 26 children with one of three other subtelomeric deletions-11q25 (Jacobsen syndrome), deletion 2q37, and inversion duplication deletion 8p21-23. We found children with WHS to be more severely impacted cognitively than children from any of the other groups. Their overall adaptive behavior was lower as well. However, children with WHS exhibit strengths in socialization skills comparable to the levels attained by the other groups we assessed. Importantly, the proportion of children with WHS with autism or autistic-like features is significantly lower than the rates of autism found in the other subtelomeric disorders we examined.

• Authors: Gene S Fisch, Paul Grossfeld, Rena Falk, Agatino Battaglia, Janey Youngblom, Richard Simensen
• Journal: American journal of medical genetics. Part C, Seminars in medical genetics (Am J Med Genet C Semin Med Genet) Vol. 154C Issue 4 Pg. 417-26 (Nov 15 2010) ISSN: 1552-4876 [Electronic] United States
• PMID: 20981770 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2010 Wiley-Liss, Inc.

Topics

• Autistic Disorder (complications)
• Behavior (physiology)
• Child
• Chromosome Disorders (genetics, physiopathology)
• Chromosomes, Human, Pair 11 (genetics)
• Chromosomes, Human, Pair 2 (genetics)
• Chromosomes, Human, Pair 8 (genetics)
• Cognition Disorders (genetics, physiopathology)
• Humans
• Intellectual Disability (genetics, physiopathology)
• Neuropsychological Tests
• Socialization
• Telomere (genetics)
• Wolf-Hirschhorn Syndrome (complications, genetics, physiopathology)