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Titolo:
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
Autore:
Barone, R; Pavone, L; Fiumara, A; Bianchini, R; Jaeken, J;
Indirizzi:
Univ Catania, Div Pediat Neurol, Pediat Clin, I-95125 Catania, Italy Univ Catania Catania Italy I-95125 , Pediat Clin, I-95125 Catania, Italy Katholieke Univ Leuven, Dept Pediat, Ctr Metab Dis, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium Ctr Metab Dis, Louvain, Belgium
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 4, volume: 21, anno: 1999,
pagine: 260 - 263
SICI:
0387-7604(199906)21:4<260:DPANAI>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLYCOPROTEIN SYNDROME; OLIVOPONTOCEREBELLAR ATROPHY; CEREBELLUM;
Keywords:
carbohydrate-deficient; glycoconjugate syndrome; phosphomannomutase deficiency; neuropsychological assessment;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Barone, R Univ Catania, Div Pediat Neurol, Pediat Clin, V A Doria 6, I-95125 Catania, Univ Catania V A Doria 6 Catania Italy I-95125 I-95125 Catania,
Citazione:
R. Barone et al., "Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)", BRAIN DEVEL, 21(4), 1999, pp. 260-263

Abstract

Carbohydrate-deficient glycoconjugate (CDG) syndrome type I due to phosphomannomutase deficiency (CDGIA) is the most common among a group of metabolic disorders characterized by a defective glycosylation of glycoconjugates. Clinically it is a multisystem disease with an important involvement of thecentral nervous system including pontocerebellar atrophy. Here the developmental patterns and results of neuropsychological assessment of four young adults with CDGIA syndrome are reported. The patients, aged 14-26 years, had classical clinical findings of CDGIA syndrome and olivopontocerebellar atrophy of severe degree. They had a marked delay in all areas of psychomotordevelopment and gained to walk with aid, perform manipulative abilities and develop a communicative language after the 7th year. Later on, the acquired abilities remained stable, while self-help skills gradually improved, allowing the patients to join the family life. On neuropsychological assessment, there was mental retardation of variable degree with a special impairment of visuoperceptual skills, visuospatial organization, eye-hand coordination, verbal memory and language. Such findings, may be partially explained by the supratentorial atrophy in our patients and add more evidences to therole of the cerebellum and brainstem in the acquisition of non-motor cognitive functions. This study expands our understanding on the clinical spectrum of CDGIA syndrome and may be helpful for planning rehabilitation and education. (C) 1999 Elsevier Science B.V. All rights reserved.

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Documento generato il 02/04/20 alle ore 18:21:04