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 …

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 …

Monogenic variants in dystonia: an exome-wide sequencing study

M Zech, R Jech, S Boesch, M Škorvánek… - The Lancet …, 2020 - thelancet.com
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

Early diagnosis and classification of cerebral palsy: an historical perspective and barriers to an early diagnosis

A Te Velde, C Morgan, I Novak, E Tantsis… - Journal of Clinical …, 2019 - mdpi.com
Since the 1800s, there have been calls in the literature for the early diagnosis of cerebral
palsy (CP). However, diagnosis still often occurs late, from 12 to 24 months in high income …

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 …

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 …

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

M Chopra, DL Gable, J Love‐Nichols… - Annals of clinical …, 2022 - Wiley Online Library
Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to
single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we …

[HTML][HTML] Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies

JM Friedman, P van Essen… - Molecular genetics and …, 2022 - Elsevier
Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or
posture, beginning early in development. Early family and twin studies and more recent …

Iatrogenic vs. spontaneous preterm birth: a retrospective study of neonatal outcome among very preterm infants

X Chen, X Zhang, W Li, W Li, Y Wang, S Zhang… - Frontiers in …, 2021 - frontiersin.org
Objective: Preterm birth is a leading contributor to childhood morbidity and mortality, and the
incidence tends to increase and is higher in developing countries. The aim of this study was …

Variability in cerebral palsy diagnosis

BR Aravamuthan, D Fehlings, S Shetty, M Fahey… - …, 2021 - publications.aap.org
BACKGROUND: Cerebral palsy (CP) is the most common childhood motor disability. The
emergence of genetic CP etiologies, variable inclusion of hypotonic CP in international …