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BioMed Central, Orphanet Journal of Rare Diseases, 1(9), 2014

DOI: 10.1186/s13023-014-0177-6

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Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Journal article published in 2014 by Hendriekje Eggink, Anouk Kuiper, Maria Fiorella Contarino ORCID, Kathryn J. Peall, Bart Post, Annet M. Bosch ORCID, Deborah A. Sival, Marina Aj Tijssen, Tom J. de Koning
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abstract Background Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children’s health-related quality of life (HRQOL) and its physical and psychosocial domains of functioning has never been investigated. We therefore conducted a case study on the HRQOL and development of adaptive functioning in children with an IEM and a movement disorder. Methods Children with co-existent IEM and movement disorders were recruited from paediatric outpatient clinics. We systematically collected clinical data and videotaped examinations. The movement disorders were diagnosed by a panel of specialists. The Pediatric Quality of Life Inventory 4.0 and the Vineland Adaptive Behavior Scale were used to assess the HRQOL and adaptive functioning, respectively. Results We recruited 24 children (10 boys, mean age 7y 5 m). Six types of movement disorders were recognised by the expert panel, most frequently dystonia (16/24), myoclonus (7/24) and ataxia (6/24). Mean HRQOL (49.63, SD 21.78) was significantly lower than for other chronic disorders in childhood (e.g. malignancy, diabetes mellitus, rheumatic disease, psychiatric disorders; p