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Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.
Am J Med Genet A. 2015 Jul; 167(7):1632-6.AJ

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+Show Affiliations

Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.Department of Pediatrics, Section of Endocrinology and Metabolism, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.Department of Pediatrics, Section of Psychology, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25899150

Citation

Antonini, Tanya N., et al. "Neurocognitive Profile of a Young Adolescent With DK Phocomelia/von Voss Phocomelia/von Voss Cherstvoy Syndrome." American Journal of Medical Genetics. Part A, vol. 167, no. 7, 2015, pp. 1632-6.
Antonini TN, Van Horn Kerne V, Axelrad ME, et al. Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. Am J Med Genet A. 2015;167(7):1632-6.
Antonini, T. N., Van Horn Kerne, V., Axelrad, M. E., Karaviti, L. P., & Schwartz, D. D. (2015). Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. American Journal of Medical Genetics. Part A, 167(7), 1632-6. https://doi.org/10.1002/ajmg.a.37039
Antonini TN, et al. Neurocognitive Profile of a Young Adolescent With DK Phocomelia/von Voss Phocomelia/von Voss Cherstvoy Syndrome. Am J Med Genet A. 2015;167(7):1632-6. PubMed PMID: 25899150.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome. AU - Antonini,Tanya N, AU - Van Horn Kerne,Valerie, AU - Axelrad,Marni E, AU - Karaviti,Lefkothea P, AU - Schwartz,David D, Y1 - 2015/04/21/ PY - 2014/07/23/received PY - 2015/02/11/accepted PY - 2015/4/23/entrez PY - 2015/4/23/pubmed PY - 2016/3/18/medline KW - DK Phocomelia syndrome KW - cognitive KW - neurocognitive KW - neuropsychological KW - von Voss Cherstvoy syndrome SP - 1632 EP - 6 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 167 IS - 7 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/25899150/Neurocognitive_profile_of_a_young_adolescent_with_DK_phocomelia/von_Voss_phocomelia/von_Voss_Cherstvoy_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.37039 DB - PRIME DP - Unbound Medicine ER -