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Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Author(s) -
Kuiper Anouk,
Grünewald Stephanie,
Murphy Elaine,
Coenen Maraike A.,
Eggink Hendriekje,
Zutt Rodi,
RubioGozalbo Maria E.,
Bosch Annet M.,
Williams Monique,
Derks Terry G. J.,
Lachmann Robin H. L.,
Brouwers Martijn C. G. J.,
Janssen Mirian C. H.,
Tijssen Marina A.,
de Koning Tom J.
Publication year - 2019
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12054
Subject(s) - galactosemia , neuropsychology , pediatrics , dystonia , cohort , movement disorders , neuropsychological assessment , psychology , medicine , psychiatry , disease , cognition , biochemistry , chemistry , galactose
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.