Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland
| Autor: | Maria Suo-Palosaari, Päivi Vieira, Elisa Rahikkala, Oula Knuutinen, Reetta Hinttala, Johanna Uusimaa, Salla M. Kangas, Jukka S. Moilanen, Jaakko H Oikarainen, Tytti Pokka |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 030506 rehabilitation medicine.medical_specialty Pediatrics Adolescent Population Young Adult 03 medical and health sciences 0302 clinical medicine Developmental Neuroscience Leukoencephalopathies Epidemiology Intellectual disability medicine Humans Longitudinal Studies Child education Finland Retrospective Studies Neurologic Examination education.field_of_study business.industry Incidence Incidence (epidemiology) Infant Newborn Infant medicine.disease Magnetic Resonance Imaging White Matter Hypotonia Natural history Child Preschool Pediatrics Perinatology and Child Health Etiology Female Neurology (clinical) medicine.symptom 0305 other medical science business 030217 neurology & neurosurgery Cohort study |
| Zdroj: | Developmental Medicine & Child Neurology. 63:1066-1074 |
| ISSN: | 1469-8749 0012-1622 |
| DOI: | 10.1111/dmcn.14884 |
| Popis: | 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. What this paper adds Forty-nine distinct genetic white matter disorders (GWMDs) were identified, with 20% of cases being classic leukodystrophies. The cumulative childhood incidence of GWMDs was higher than described previously. A considerable proportion (36%) of GWMDs were previously undefined or recently characterised GWMDs. Mitochondrial aetiology was more common (21%) than previously reported. |
| Databáze: | OpenAIRE |
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