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Although movement disorders (MDs) are known complications, the exact frequency and severity remains uncertain in patients with classical galactosemia, especially in children. We determined the frequency, classification and severity of MDs in a cohort of pediatric and adult galactosemia patients, and assessed the association with nonmotor neuropsychological symptoms and daily functioning. Patients from seven centers in the United Kingdom and the Netherlands with a confirmed galactosemia diagnosis were invited to participate. A videotaped neurological examination was performed and an expert panel scored the presence, classification and severity of MDs. Disease characteristics, nonmotor neuropsychological symptoms, and daily functioning were evaluated with structured interviews and validated questionnaires (Achenbach, Vineland, Health Assessment Questionnaire, SIP68). We recruited 37 patients; 19 adults (mean age 32.6 years) and 18 children (mean age 10.7 years). Subjective self-reports revealed motor symptoms in 19/37 (51.4%), similar to the objective (video) assessment, with MDs in 18/37 patients (48.6%).The objective severity scores were moderate to severe in one third (6/37). Dystonia was the overall major feature, with additional tremor in adults, and myoclonus in children. Behavioral or psychiatric problems were present in 47.2%, mostly

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BackgroundInborn 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.MethodsChildren 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.ResultsWe 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).ConclusionsA 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0177-6) contains supplementary material, which is available to authorized users.

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Intraobserver variation is modest, and interobserver variation is large for most clinical findings in children with dyspnoea. The measurement error induced by this variation is too large to distinguish potentially clinically relevant changes in dyspnoea after treatment in two-thirds of observations. The poor interobserver reliability of clinical dyspnoea assessment in children limits its usefulness in clinical practice and research, and highlights the need to use more objective measurements in these patients.

Non-motor symptoms are important for HR-QoL in childhood-onset dystonia. We suggest a multidisciplinary assessment of motor and non-motor symptoms to optimize individual patient management.

View Supplementary Video 1 Background The Burke‐Fahn‐Marsden Dystonia Rating Scale is a universally applied instrument for the quantitative assessment of dystonia in both children and adults. However, immature movements by healthy young children may also show “dystonic characteristics” as a consequence of physiologically incomplete brain maturation. This could implicate that Burke‐Fahn‐Marsden scale scores are confounded by pediatric age. Objective In healthy young children, we aimed to determine whether physiologically immature movements and postures can induce an age‐related effect on Burke‐Fahn‐Marsden movement and disability scale scores. Methods Nine assessors specializied in movement disorders (3 adult neurologists, 3 pediatric neurologists, and 3 MD/PhD students) independently scored the Burke‐Fahn‐Marsden movement scale in 52 healthy children (4–16 years of age; 2 boys and 2 girls per year of age). Independent of that, parents scored their children's functional motor development according to the Burke‐Fahn‐Marsden disability scale in another 52 healthy children (4–16 years of age; 2 boys and 2 girls per year of age). By regression analysis, we determined the association between Burke‐Fahn‐Marsden movement and disability scales outcomes and pediatric age. Results In healthy children, assessment of physiologically immature motor performances by the Burke‐Fahn‐Marsden movement and disability scales showed an association between the outcomes of both scales and age (until 16 years and 12 years of age, β = −0.72 and β = −0.60, for Burke‐Fahn‐Marsden movement and disability scale, respectively [both P < 0.001]). Conclusions The Burke‐Fahn‐Marsden movement and disability scales are influenced by the age of the child. For accurate interpretation of longitudinal Burke‐Fahn‐Marsden Dystonia Rating Scale scores in young dystonic children, consideration of pediatric age‐relatedness appears advisory.