title: 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.affiliation: NYU Colleges of Dentistry and Nursing in New York City, New York 10003, USA. gene.fisch@nyu.edu
authors.forename: Gene S
authors.initials: GS
authors.lastname: Fisch
authors.forename: Paul
authors.initials: P
authors.lastname: Grossfeld
authors.forename: Rena
authors.initials: R
authors.lastname: Falk
authors.forename: Agatino
authors.initials: A
authors.lastname: Battaglia
authors.forename: Janey
authors.initials: J
authors.lastname: Youngblom
authors.forename: Richard
authors.initials: R
authors.lastname: Simensen
mesh_terms: D001321:Autistic Disorder / Q000150:complications; D001519:Behavior / Q000502:physiology*; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D009483:Neuropsychological Tests; D012951:Socialization; D016615:Telomere / Q000235:genetics; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology*