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RESEARCH PAPER ANALYSIS

Global epidemiological and genetic burden of rare neurological diseases in children.

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PMID42889786
JournaliScience
Publication Date2026-10-05
Ingested2026-10-18 09:15 AM
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ABSTRACT

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We assessed the global burden of rare childhood neurological diseases from 1990 to 2021 and projected trends to 2050 using Global Burden of Disease data, alongside an analysis of the genetic burden from ClinVar. Four neurological conditions were classified as rare childhood neurological diseases: motor neuron disease, multiple sclerosis, neuroblastoma and other peripheral nervous cell tumors, and other neurological disorders. From 1990 to 2021, the global age-standardized prevalence and disability-adjusted life-year rates of rare childhood neurological diseases increased, with higher burdens among boys and in low-middle sociodemographic index countries. Our customized forecasting model projected that 110.2 thousand children would be affected by 2050, representing an 11.83% increase from 2021. Annual and cumulative increases in newly reported disease-causing genes and pathogenic/likely pathogenic variants associated with monogenic neurological diseases were observed from 1990 to 2024. The increasing and disparate burden of rare childhood neurological diseases highlights the need for targeted prevention.

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PATIENT-FRIENDLY SUMMARY

Global epidemiological and genetic burden of rare neurological diseases in children.

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