title: Neuropsychological findings in two children diagnosed with hamartoses: evidence of a NLD phenotypic profile.
abstract: Hamartoses (HM) are defined as disorders involving nonneoplastic tissue overgrowth. Studies have examined the neuropsychological profiles of children with common HM, such as neurofibromatosis type 1. Limited information is known regarding neuropsychological profiles of rare HM such as Osteochondromatosis Syndrome (OS) and Klippel-Trenaunay Syndrome (KTS). The current investigation is, to our knowledge, the first attempt to define the cognitive phenotypes in two boys with OS and KTS. Results revealed significantly greater impairments involving sensorimotor and visuospatial skills, while verbal memory and language skills appeared relatively preserved. Significant neurobehavioral problems and marked social difficulties were evident. These findings suggest that these syndromes are on a Nonverbal Learning Disorder (NLD) continuum, with varying degrees of severity.
authors.affiliation: Division of Neuropsychology, Department of Behavioral Health, Henry Ford Health System, Detroit, Michigan 48202, USA. rlajine1@hhs.org
authors.forename: Renée
authors.initials: R
authors.lastname: Lajiness-O'Neill
authors.forename: Isabelle
authors.initials: I
authors.lastname: Beaulieu
mesh_terms: D000124:Achievement; D001288:Attention; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D009483:Neuropsychological Tests; D018216:Osteochondromatosis / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D012720:Severity of Illness Index