Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Autor: Robin H. Lachmann, Martijn C. G. J. Brouwers, Hendriekje Eggink, Anouk Kuiper, Tom J. de Koning, Monique Williams, M. E. Rubio-Gozalbo, Stephanie Grunewald, Elaine Murphy, Maraike Coenen, Mirian C. H. Janssen, Terry G J Derks, Annet M. Bosch, Marina A. J. Tijssen, Rodi Zutt
Přispěvatelé: RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, Interne Geneeskunde, MUMC+: MA Endocrinologie (9), Center for Liver, Digestive and Metabolic Diseases (CLDM), Movement Disorder (MD), Amsterdam Reproduction & Development (AR&D), Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism, Pediatrics
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Male
Pediatrics
Movement disorders
Behavioral Symptoms
Severity of Illness Index
Cohort Studies
Disability Evaluation
Surveys and Questionnaires
Activities of Daily Living
Medicine
Child
Genetics (clinical)
Netherlands
Dystonia
0303 health sciences
COMPLICATIONS
OUTCOMES
Movement Disorders
medicine.diagnostic_test
030305 genetics & heredity
Galactosemia
Neuropsychology
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Middle Aged
Child
Preschool
Cohort
Female
medicine.symptom
Adult
Galactosemias
medicine.medical_specialty
Adolescent
Psychometrics
DYSTONIA
Neurological examination
Young Adult
03 medical and health sciences
All institutes and research themes of the Radboud University Medical Center
Genetics
Humans
030304 developmental biology
galactosemia
business.industry
DISABILITY
daily functioning
medicine.disease
tremor
United Kingdom
nonmotor symptoms
Structured interview
Quality of Life
business
Myoclonus
Zdroj: Journal of Inherited Metabolic Disease, 42(3), 451-458. Wiley
Journal of Inherited Metabolic Disease, 42(3), 451-458. SPRINGER
Journal of Inherited Metabolic Disease, 42, 3, pp. 451-458
Journal of Inherited Metabolic Disease, 42(3), 451-458. Springer Netherlands
Journal of inherited metabolic disease, 42(3), 451-458. Springer Netherlands
Journal of Inherited Metabolic Disease, 42, 451-458
ISSN: 0141-8955
Popis: 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 internalizing problems, and associated with MDs. Daily functioning was significantly impaired in the majority of patients. Only one patient received symptomatic treatment for MDs. We show that MDs and nonmotor neuropsychological symptoms are frequent in both children and adults with classical galactosemia.
Databáze: OpenAIRE
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