title: Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
abstract: DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK phocomelia syndrome.
authors.affiliation: Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.
authors.forename: Tanya N
authors.initials: TN
authors.lastname: Antonini
authors.affiliation: Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.
authors.forename: Valerie
authors.initials: V
authors.lastname: Van Horn Kerne
authors.affiliation: Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.
authors.forename: Marni E
authors.initials: ME
authors.lastname: Axelrad
authors.affiliation: Department of Pediatrics, Section of Endocrinology and Metabolism, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.
authors.forename: Lefkothea P
authors.initials: LP
authors.lastname: Karaviti
authors.affiliation: Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.
authors.forename: David D
authors.initials: DD
authors.lastname: Schwartz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D004480:Ectromelia / Q000235:genetics / Q000473:pathology*; D004677:Encephalocele / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019965:Neurocognitive Disorders / Q000473:pathology*; D009483:Neuropsychological Tests; D010641:Phenotype; D011597:Psychomotor Performance / Q000502:physiology; D013921:Thrombocytopenia / Q000235:genetics / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D014564:Urogenital Abnormalities / Q000235:genetics / Q000473:pathology*; D014796:Visual Perception / Q000502:physiology
keywords: DK Phocomelia syndrome; cognitive; neurocognitive; neuropsychological; von Voss Cherstvoy syndrome