title: Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.
abstract: The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.
authors: Mount Sinai School of Medicine, Department of Neurology, USA. HeidiBender@aol.com
authors: H Allison
authors: HA
authors: Bender
authors: Charles M
authors: CM
authors: Zaroff
authors: Stella
authors: S
authors: Karantzoulis
authors: Luba
authors: L
authors: Nakhutina
authors: William S
authors: WS
authors: MacAllister
authors: Daniel
authors: D
authors: Luciano
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D055673:Acrocallosal Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D003143:Communication Devices for People with Disabilities; D004185:Disability Evaluation; D004828:Epilepsies, Partial / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D017029:Epilepsy, Complex Partial / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D005145:Face / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D008844:Micrognathism / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D009333:Neck / Q000002:abnormalities; D009483:Neuropsychological Tests; D012917:Social Adjustment; D012951:Socialization