Outcome in patients with profound biotinidase deficiency: relevance of newborn screening
| Autor: | E. Regula Baumgartner, Peter Weber, Sabine Scholl |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Adolescent Biotin Asymptomatic Severity of Illness Index Speech Disorders Atrophy Neonatal Screening Developmental Neuroscience Adaptation Psychological Outcome Assessment Health Care medicine Humans In patient Child Behavior Checklist Child Hearing Disorders Motor skill Newborn screening Biotinidase Deficiency business.industry Biotinidase deficiency Infant Newborn Infant medicine.disease Vineland Adaptive Behavior Scale Motor Skills Disorders Optic Atrophy Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) medicine.symptom business Social Adjustment Follow-Up Studies |
| Zdroj: | Developmental medicine and child neurology. 46(7) |
| ISSN: | 0012-1622 |
| Popis: | Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months-20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of |
| Databáze: | OpenAIRE |
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