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Published on: February 4, 2022
Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A
Luyao Jin1,2, Shuling Chen3, Ying Liu4
1Department of Rehabilitation, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Children and Adolescents' Health and Diseases, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing City, China.
Objective:
To investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary cerebellar atrophy (CA).
Method:
A cohort of 102 pediatric patients diagnosed with hereditary CA was enrolled at the Children's Hospital of Chongqing Medical University (2015-2024). Univariate and multivariate analyses assessed clinical-neuroimaging-genetic correlations.
Results:
Earlier onset correlated with prematurity (p = 0.039) and negative family history (p = 0.042); diagnostic delay with unremarkable perinatal history (p = 0.038). Motor delay was more prevalent in males (100% vs. 91.1%). Gross motor scores were lower in membrane transporters (26.78 ± 17.90, p = 0.027) and metabolic diseases (28.09 ± 26.26, p = 0.025) compared to cytoskeletal proteinopathies (47.81 ± 13.55). Multivariate analysis identified age at onset and diagnostic delay as independent predictors of motor and cognitive development delay and enzymopathies/glycoprotein disorders for global developmental delay (OR = 4.4, p = 0.042). Early onset (≤ 6 months) elevated the risk of ataxia (OR = 6.75, p = 0.021). Atrophy severity independently predicted motor and cognitive impairment.
Conclusion:
Preterm birth, male sex, and negative family history predicted earlier onset, urging early neuroimaging. Early onset and severe/complex cerebellar atrophy indicated poorer prognosis. While ataxia was uncommon overall, onset ≤ 6 months increased its risk. Metabolic disorders contributed to significant motor deficits, underscoring the need for early genetic testing and targeted management.
