University of Oulu

Knuutinen, O.A., Oikarainen, J.H., Suo-Palosaari, M.H., Kangas, S.M., Rahikkala, E.J., Pokka, T.M.-L., Moilanen, J.S., Hinttala, R.M.L., Vieira, P.M. and Uusimaa, J.M. (2021), Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland. Dev Med Child Neurol, 63: 1066-1074. https://doi.org/10.1111/dmcn.14884

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

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Author: Knuutinen, Oula A.1,2; Oikarainen, Jaakko H.2,3,4; Suo-Palosaari, Maria H.2,3,4;
Organizations: 1PEDEGO Research Unit, University of Oulu, Oulu, Finland
2Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland
3Department of Diagnostic Radiology, Oulu University Hospital, Oulu, Finland
4Research Unit of Medical Imaging, Physics and Technology, University of Oulu, Oulu, Finland
5Biocenter Oulu, University of Oulu, Oulu, Finland
6Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
7Clinic for Children and Adolescents, Oulu University Hospital, Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.9 MB)
Persistent link: http://urn.fi/urn:nbn:fi-fe2021101250673
Language: English
Published: John Wiley & Sons, 2021
Publish Date: 2021-10-12
Description:

Abstract

Aim: To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland.

Method: A longitudinal population-based cohort study was conducted in the tertiary catchment area of Oulu University Hospital from 1990 to 2019. Patients were identified retrospectively by International Statistical Classification of Diseases and Related Health Problems codes in hospital records and prospectively by attending physicians. Inclusion criteria were children younger than 18 years with defined GWMDs or genetic disorders associated with white matter abnormalities (WMAs) on brain magnetic resonance imaging.

Results: Eighty patients (mean age [SD] at the end of the study 11y [8y 6mo], range 0–35y; 45 males, 35 females) were diagnosed with a defined GWMD. The cumulative childhood incidence was 30 per 100 000 live births. Regarding those patients with 49 distinct GWMDs, 20% had classic leukodystrophies and 80% had genetic leukoencephalopathies. The most common leukodystrophies were cerebral adrenoleukodystrophy, Krabbe disease, and Salla disease. Additionally, 29 patients (36%) had genetic aetiologies not previously associated with brain WMAs or they had recently characterised GWMDs, including SAMD9L- and NHLRC2-related neurological disorders. Aetiology was mitochondrial in 21% of patients. The most common clinical findings were motor developmental delay, intellectual disability, hypotonia, and spasticity.

Interpretation: The cumulative childhood incidence of childhood-onset GWMDs was higher than previously described. Comprehensive epidemiological and natural history data are needed before future clinical trials are undertaken.

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Series: Developmental medicine & child neurology
ISSN: 0012-1622
ISSN-E: 1469-8749
ISSN-L: 0012-1622
Volume: 63
Issue: 9
Pages: 1066 - 1074
DOI: 10.1111/dmcn.14884
OADOI: https://oadoi.org/10.1111/dmcn.14884
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
3123 Gynaecology and paediatrics
Subjects:
Funding: This work was supported by the Arvo and Lea Ylppö Foundation, Stiftelsen Alma och K. A. Snellman Säätiö, Oulun Lääketieteellinen Tutkimussäätiö (Oulu Medical Research Foundation), Academy of Finland (JU, decision no. 331436; RH, decision no. 311934), Finnish Medical Foundation, Paediatric Research Foundation, and Special State Grants for Health Research in the Clinic for Children and Adolescents, Oulu University Hospital, Finland.
Academy of Finland Grant Number: 331436
Detailed Information: 331436 (Academy of Finland Funding decision)
Copyright information: © 2021 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
  https://creativecommons.org/licenses/by/4.0/