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

被引:24
作者
Eggink, Hendriekje [1 ]
Kuiper, Anouk [1 ]
Peall, Kathryn J. [1 ]
Contarino, Maria Fiorella [2 ,3 ]
Bosch, Annet M. [4 ]
Post, Bart [5 ]
Sival, Deborah A. [1 ]
Tijssen, Marina A. J. [1 ]
de Koning, Tom J. [1 ,6 ]
机构
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, NL-9700 RB Groningen, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands
[3] Haga Ziekenhuis Teaching Hosp, Dept Neurol, NL-2545 CH The Hague, Netherlands
[4] Univ Amsterdam, Dept Paediat, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands
[5] Radboud Univ Nijmegen, Dept Neurol, Med Ctr, NL-6525 GA Nijmegen, Netherlands
[6] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
关键词
Inborn errors of metabolism; Movement disorders; Quality of life; Adaptive functioning; Dystonia; Myoclonus; Ataxia; CEREBRAL-PALSY; CHILDREN; RELIABILITY; ADOLESCENTS;
D O I
10.1186/s13023-014-0177-6
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 <0.001) and tended to diminish with the severity of the movement disorder. The majority of participants had delayed adaptive functioning, most evident in their activities of daily living (51.92%, SD 27.34). Delay in adaptive functioning had a significant impact upon HRQOL (p = 0.018). Conclusions: A broad spectrum of movement disorders was seen in patients with IEM, although only five were receiving treatment. The overall HRQOL in this population is significantly reduced. Delay in adaptive functioning, most frequently seen in relation to activities of daily living, and the severity of the movement disorder contribute to this lower HRQOL. We plead for a greater awareness of movement disorders and that specialists should be asked to diagnose and treat these wherever possible.
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页数:7
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