title: Neuropsychological function in a child with 18p deletion syndrome: a case report.
abstract: We report the neuropsychological profile of a 4-year-old boy with the rare 18p deletion syndrome. We used a battery of standardized tests to assess his development in intellect, language, visuomotor integration, academic readiness, socialization, and emotional and behavioral health. The results showed borderline intellectual function except for low average nonverbal reasoning skills. He had stronger receptive than expressive language skills, although both were well below his age group. He had impaired visuomotor integration and pre-academic skills such as letter identification. Emotional and behavioral findings indicated mild aggressiveness, anxiety, low frustration tolerance, and executive function weaknesses, especially at home. Interestingly, he showed social strengths, responding to joint attention and sharing enjoyment with his examiner. With its assessment of development in many domains, this case report is among the first to characterize the neuropsychological and psychiatric function of a young child with 18p deletion syndrome. We discuss the implications of our findings for clinical practice.
authors.affiliation: Departments of *Psychiatry †Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Brian L
authors.initials: BL
authors.lastname: Willoughby
authors.forename: Marcus
authors.initials: M
authors.lastname: Favero
authors.forename: Ganeshwaran H
authors.initials: GH
authors.lastname: Mochida
authors.forename: Ellen B
authors.initials: EB
authors.lastname: Braaten
mesh_terms: D001288:Attention; D002652:Child Behavior; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000503:physiopathology / Q000523:psychology*; D002887:Chromosomes, Human, Pair 18; D003071:Cognition; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D004644:Emotions; D056344:Executive Function; D005190:Family; D006801:Humans; D007802:Language; D008297:Male; D009048:Motor Skills; D009483:Neuropsychological Tests; D011597:Psychomotor Performance; D012951:Socialization; D013060:Speech