Titre du document

Neuropsychological and linguistic follow‐up studies of children with galactosaemia from an unscreened population

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Nom du corpus

Ortho

Auteur(s)
  • TWR Hansen 1,2
  • B. Henrichsen 1
  • RK Rasmussen 1
  • A. Carling 1
  • AB Andreassen 3
  • O. Skjeldal 1
Affiliation(s)
  • Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo
  • Norway
  • Correspondence address: Neonatal Critical Care, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, PA 15213‐2583, USA
  • Bredtvet Center for Logopedics, Oslo, Norway
Langue(s) du document
Anglais
Revue

Acta Pædiatrica

Éditeur
Wiley
Année de publication
1996
Type de publication
Journal
Type de document
Article
Résumé

Many galactosaemics appear to have neuropsychological and/or linguistic problems in spite of dietary treatment. Because the neonatal screening program in Norway does not include galactosaemia, we have re‐examined Norwegian galactosaemics. Of 16 known patients, 8 patients participated in the study. They had been diagnosed between 2 and 11 weeks of age, and were between 9 months and 19 years old at the time of this study. All had very low or 0 activity of galactose‐1‐phosphate uridyl transferase. As part of the study all were examined neurologically, and had an age‐appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation. The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. The majority had delayed language development and three patients were classified as having verbal dyspraxia. ABR and EEG showed mild pathology in the oldest patient only. Galactosaemia appears to be associated with significant risks of developmental and language delays in this unscreened population.

Mots-clés d'auteur
  • Developmental delay
  • galactosaemia
  • sequelae
  • speech pathology
Catégories WoS
  • 1 - science ; 2 - pediatrics
Catégories Science-Metrix
  • 1 - health sciences ; 2 - clinical medicine ; 3 - pediatrics
Catégories Scopus
  • 1 - Health Sciences ; 2 - Medicine ; 3 - General Medicine
  • 1 - Health Sciences ; 2 - Medicine ; 3 - Pediatrics, Perinatology, and Child Health
Catégories INIST
  • 1 - sciences appliquees, technologies et medecines ; 2 - sciences biologiques et medicales ; 3 - sciences medicales ; 4 - maladies metaboliques
Score qualité du texte
6.997
Version PDF
1.6
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Non
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Nom du fichier dans la ressource
ortho-ang_0459
ark:/67375/WNG-Q58ZGP3N-C
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