title: A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation.
abstract: This study examines the neuropsychological profile of a boy with congenital central hypoventilation syndrome (CCHS) without a paired-like homeobox gene (PHOX2B) mutation. CCHS is a rare disorder of autonomic nervous system development characterized by an impaired ventilatory response to hypercarbia and hypoxemia. Mild intellectual deficits are common but a specific cognitive profile is not established in CCHS. We describe a nonverbal learning disorder as a CCHS endophenotype and recommend that detailed neuropsychological testing be performed on all individuals with CCHS. Defining the psycho-educational needs in CCHS may avert compounding the emotional and medical stresses of this already debilitating disorder.
authors.affiliation: Neuropsychology, Northeast Regional Epilepsy Group, White Plains, New York, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Trobliger
authors.forename: Charles M
authors.initials: CM
authors.lastname: Zaroff
authors.forename: Richard H
authors.initials: RH
authors.lastname: Grayson
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Higgins
mesh_terms: D000293:Adolescent; D001342:Autonomic Nervous System Diseases / Q000150:complications / Q000151:congenital* / Q000235:genetics; D002653:Child Behavior Disorders / Q000150:complications / Q000235:genetics; D003071:Cognition; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000150:complications* / Q000151:congenital* / Q000235:genetics; D007802:Language; D007859:Learning Disabilities / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors