Extended Data Fig. 1: The correlation between CP phenotypes and genetic findings. | Nature Medicine

Extended Data Fig. 1: The correlation between CP phenotypes and genetic findings.

From: Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy

Extended Data Fig. 1

In order to determine the relationship between the different clinical phenotypes and the molecular diagnosis of individuals with CP, we performed clinical grouping of individuals, including classification, developmental profiles, and morphological examination. Global developmental delay/Intellectual Disability(GDD/ID), termed intellectual disability, was identified based on a score of less than 70 on the Bayley scales for measurement of the mental development index. The classification of CP shown in a includes groups with a large number of individuals: spastic quadriplegia, spastic diplegia, dyskinesia CP, and mixed types. The developmental profiles shown in b show complications of individuals with CP, such as speech disability. Shown in c are some imaging findings of CP, such as white matter injury and hydrocephalus. The results show that children with GDD/ID were closely related to heredity. The green is genetic diagnosis positive rate, and the gray is genetic diagnosis negative rate. The numbers on the top of the column represent the corresponding number of people. A two-side Fisher’s exact test was used in comparison of genetic diagnostic rate in specific CP subgroup. Bonferroni was used to handle multiple test problem. ‘*’ means P < 0.05, ‘**’ means P < 0.01, and ‘***’ means P < 0.001.

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