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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

ABSTRACT: Cerebral palsy (CP) is the most common motor disability of childhood. It is characterised by permanent, non-progressive but not unchanging problems with movement, posture and motor function, with a highly heterogeneous clinical spectrum and frequent neurodevelopmental comorbidities. The aetiology of CP is poorly understood, despite recent reports of a genetic contribution in some cases. Here we demonstrate transcriptional dysregulation of trophic signalling pathways in patient-derived cell lines from an unselected cohort of 182 CP-affected individuals using both differential expression analysis and weighted gene co-expression network analysis (WGCNA). We also show that genes differentially expressed in CP, as well as network modules significantly correlated with CP status, are enriched for genes associated with ASD. Combining transcriptome and whole exome sequencing (WES) data for this CP cohort likely resolves an additional 5% of cases separated to the 14% we have previously reported as resolved by WES. Collectively, these results support a convergent molecular abnormality in CP and ASD.

SUBMITTER: van Eyk CL

PROVIDER: S-EPMC5911435 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

van Eyk Clare L CL Corbett Mark A MA Gardner Alison A van Bon Bregje W BW Broadbent Jessica L JL Harper Kelly K MacLennan Alastair H AH Gecz Jozef J

Translational psychiatry 20180423 1

Cerebral palsy (CP) is the most common motor disability of childhood. It is characterised by permanent, non-progressive but not unchanging problems with movement, posture and motor function, with a highly heterogeneous clinical spectrum and frequent neurodevelopmental comorbidities. The aetiology of CP is poorly understood, despite recent reports of a genetic contribution in some cases. Here we demonstrate transcriptional dysregulation of trophic signalling pathways in patient-derived cell lines ...[more]

PMID: 29681622

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Project description:ObjectiveThe objective of this study was to assess the rehabilitation status and factors associated with rehabilitation service utilisation among children with cerebral palsy (CP) in Bangladesh.Materials and methodsThis is a population-based surveillance study conducted among children with CP registered in the Bangladesh CP Register (BCPR), the first population-based register of children with CP aged <18 years (y) in Bangladesh. Children with CP were identified from the community using the key informant method and underwent a detailed neurodevelopmental assessment. Socio-demographic, clinical and rehabilitation status were documented. Unadjusted and adjusted analyses with a 95% confidence interval (CI) were used to identify potential predictors of rehabilitation service uptake.ResultsBetween January 2015 and December 2019, 2852 children with CP were registered in the BCPR (mean (standard deviation, SD) age: 7 y 8 months (mo) (4 y 7 mo), 38.5% female). Of these, 50.2% had received rehabilitation services; physiotherapy was the most common type of service (90.0%). The mean (SD) age at commencement of rehabilitation services was 3 y 10 mo (3 y 1 mo). The odds of not receiving rehabilitation was significantly higher among female children (adjusted odds ratio (aOR) 1.3 [95% CI: 1.0-1.7], children whose mothers were illiterate and primary level completed (aOR 2.1 [95% CI: 1.4-3.1] and aOR 1.5 [95% CI: 1.1-2.1], respectively), fathers were illiterate (aOR 1.9 [95% CI: 1.3-2.8]), had a monthly family income ~US$ 59-118 (aOR: 1.8 [95% CI: 1.2-2.6]), had hearing impairment (aOR: 2.3 [95% CI: 1.5-3.5]) and motor severity (i.e. Gross Motor Function Classification System level III (aOR: 0.6 [95% CI: 0.3-0.9]) and level V (aOR: 0.4 [95% CI: 0.2-0.7])).ConclusionsRehabilitation status was poor among the majority of the children with CP in the BCPR cohort, limiting their opportunities for functional improvement. A community-based rehabilitation model focusing on socio-demographic and clinical characteristics should be a public health priority in Bangladesh.

Dataset Information

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Publications

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

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