Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

[HTML][HTML] Cerebral palsy: causes, pathways, and the role of genetic variants

AH MacLennan, SC Thompson, J Gecz - American journal of obstetrics and …, 2015 - Elsevier
Cerebral palsy (CP) is heterogeneous with different clinical types, comorbidities, brain
imaging patterns, causes, and now also heterogeneous underlying genetic variants. Few …

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant… - Nature …, 2020 - nature.com
In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

Molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy: a systematic review and meta-analysis

S Srivastava, SA Lewis, JS Cohen, B Zhang… - JAMA …, 2022 - jamanetwork.com
Importance There are many known acquired risk factors for cerebral palsy (CP), but in some
cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a …

Molecular diagnostic yield of exome sequencing in patients with cerebral palsy

A Moreno-De-Luca, F Millan, DR Pesacreta… - Jama, 2021 - jamanetwork.com
Importance Cerebral palsy is a common neurodevelopmental disorder affecting movement
and posture that often co-occurs with other neurodevelopmental disorders. Individual cases …

The genetic basis of cerebral palsy

MC Fahey, AH Maclennan… - … Medicine & Child …, 2017 - Wiley Online Library
Although prematurity and hypoxic–ischaemic injury are well‐recognized contributors to the
pathogenesis of cerebral palsy (CP), as many as one‐third of children with CP may lack …

Diagnostic yield of exome sequencing in cerebral palsy and implications for genetic testing guidelines: a systematic review and meta-analysis

PJ Gonzalez-Mantilla, Y Hu, SM Myers… - JAMA …, 2023 - jamanetwork.com
Importance Exome sequencing is a first-tier diagnostic test for individuals with
neurodevelopmental disorders, including intellectual disability/developmental delay and …

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

DL Fehlings, M Zarrei, W Engchuan, N Sondheimer… - Nature Genetics, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

Genetic mimics of cerebral palsy

TS Pearson, R Pons, R Ghaoui, CM Sue - Movement disorders, 2019 - Wiley Online Library
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …