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

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is a complex congenital malformation produced by a loss of genomic material at the locus 4 p 16 .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-11 q 25 (Jacobsen syndrome ), deletion 2 q 37 , and inversion duplication deletion 8 p 21 -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 .