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

Kuiper, Anouk ; Grünewald, Stephanie ; Murphy, Elaine ; Coenen, Maraike A. ; Eggink, Hendriekje ; Zutt, Rodi ; Rubio-Gozalbo, Maria E. ; Bosch, Annet M. ; Williams, Monique and Derks, Terry G.J. , et al. (2019) In Journal of Inherited Metabolic Disease 42(3). p.451-458
Abstract

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... (More)

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.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
daily functioning, dystonia, galactosemia, nonmotor symptoms, tremor
in
Journal of Inherited Metabolic Disease
volume
42
issue
3
pages
8 pages
publisher
Springer
external identifiers
  • pmid:30815886
  • scopus:85062331589
ISSN
0141-8955
DOI
10.1002/jimd.12054
language
English
LU publication?
no
id
1989c3b5-8ddf-4b9b-96ba-5dadfa05b8d9
date added to LUP
2020-02-11 12:19:52
date last changed
2021-02-28 05:36:35
@article{1989c3b5-8ddf-4b9b-96ba-5dadfa05b8d9,
  abstract     = {<p>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.</p>},
  author       = {Kuiper, Anouk and Grünewald, Stephanie and Murphy, Elaine and Coenen, Maraike A. and Eggink, Hendriekje and Zutt, Rodi and Rubio-Gozalbo, Maria E. and Bosch, Annet M. and Williams, Monique and Derks, Terry G.J. and Lachmann, Robin H.L. and Brouwers, Martijn C.G.J. and Janssen, Mirian C.H. and Tijssen, Marina A. and de Koning, Tom J.},
  issn         = {0141-8955},
  language     = {eng},
  month        = {05},
  number       = {3},
  pages        = {451--458},
  publisher    = {Springer},
  series       = {Journal of Inherited Metabolic Disease},
  title        = {Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia},
  url          = {http://dx.doi.org/10.1002/jimd.12054},
  doi          = {10.1002/jimd.12054},
  volume       = {42},
  year         = {2019},
}