Dados do Trabalho

Título

Unveiling Genetic Contributions to Cerebral Palsy: image and Clinical Insights

Introdução

Cerebral palsy (CP) has often been viewed as the result of birth-related factors. While this is true for many children, the etiology can also include underlying genetic conditions.

Objetivo

To identify signs and symptoms that correlate with genetic cerebral palsy.

Método

A cross-sectional study was conducted with children diagnosed with cerebral palsy. Inclusion criteria were a clinical diagnosis of CP and the performance of a genetic test; exclusion criteria included incomplete data or absence of neuroimaging. The collected data were analyzed using descriptive statistics, Chi-square test, and Fisher's Exact Test.

Resultados

Medical records of 632 CP patients were analyzed; 240 were excluded for incomplete data and 90 for absence of neuroimaging. Genetic tests were performed on 68 patients (10%), with positive results in 55.9% (38/68). Among these, 4 had hyperbilirubinemia, 1 had a stroke, and 1 had perinatal hypoxia. Cerebral malformations were linked to genetic conditions in 50% of cases (7/14). Dyskinetic CP was more prevalent in genetic conditions (68.8% vs. 41.2%), and spastic CP was more common in non-genetic conditions (52.9% vs. 25.0%), though the correlation was not statistically significant (p=0.188). Intellectual disability was significantly more common in genetic CP (96.3%) compared to non-genetic cases (70.0%) (p=0.032). There was no significant difference in epilepsy presence between groups (p=0.481). Leukomalacia on brain MRI was significantly associated with non-genetic causes (p<0.001), while leukoencephalopathy was linked to genetic conditions (p=0.034). Normal MRI was found in 21.1% of genetic cases and 6.7% of non-genetic cases (p=0.167). Notably, 4 patients with Kernicterus had positive genetic tests: 3 for the G6PD gene and 1 for the CACNA1E gene; 2 had hyperbilirubinemia with normal MRI and later G6PD identification.

Conclusão

Genetic factors in CP were identified in over 50% of tested patients, underscoring the need for careful patient analysis for genetic testing. Leukoencephalopathy and intellectual disability were predictive of positive genetic tests, while leukomalacia predicted non-genetic causes. Kernicterus may present with normal neuroimaging and have a genetic basis.

Referências

Bax M, et al. Proposed definition and classification of cerebral palsy, April 2005. Dev Med Child Neurol 2005;47:571–576.
Korzeniewski SJ, et al. The complex aetiology of cerebral palsy. Nat RevNeurol 2018;14:528–543.
Reid SM,et al. Population-based studies of brain imaging patterns in cerebral palsy. Dev Med Child Neurol 2014;56:222–232.
Hoon AH, Jr. Neuroimaging in cerebral palsy: patterns of brain dysgenesis and injury. J Child Neurol 2005;20:936–939.
Lingen M, et al. Obtaining a genetic diagno- sis in a child with disability: impact on parental quality of life. Clin Genet 2016;89:258–266.
Pearson TS, et al. Genetic mimics of cerebral palsy. Movement Disorders, v. 34, n. 5, p. 625–636, 2019.

Palavras Chave

Cerebral palsy; Genetic; Etiology