Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

R Pham, BW Mol, J Gecz… - … Medicine & Child …, 2020 - Wiley Online Library
Aim To conduct a systematic review of phenotypic definition and case ascertainment in
published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of …

Clinical characteristics suggestive of a genetic cause in cerebral palsy: A systematic review

AM Janzing, E Eklund, TJ De Koning, H Eggink - Pediatric neurology, 2024 - Elsevier
ABSTRACT AIM To identify clinical characteristics that are associated with genetic cerebral
palsy (CP) to aid clinicians in selecting candidates for genetic testing. METHODS The …

The emerging genetic landscape of cerebral palsy

CL Van Eyk, MA Corbett, AH Maclennan - Handbook of clinical neurology, 2018 - Elsevier
Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group
of nonprogressive neurodevelopmental disabilities affecting movement and posture. While …

Common data elements to standardize genomics studies in cerebral palsy

YA Wilson, H Smithers‐Sheedy… - … Medicine & Child …, 2022 - Wiley Online Library
Aim To define clinical common data elements (CDEs) and a mandatory minimum data set
(MDS) for genomic studies of cerebral palsy (CP). Method Candidate data elements were …

Cerebral palsy: diagnosis, epidemiology, genetics, and clinical update

A Michael-Asalu, G Taylor… - Advances in …, 2019 - advancesinpediatrics.com
DIAGNOSIS OF CEREBRAL PALSY The diagnosis of CP relies on a combination of
neurologic assessment, neuroimaging findings, and recognition of clinical risk factors …

A diagnostic approach for cerebral palsy in the genomic era

RW Lee, A Poretti, JS Cohen, E Levey, H Gwynn… - Neuromolecular …, 2014 - Springer
An ongoing challenge in children presenting with motor delay/impairment early in life is to
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …

[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 …

Insights from genetic studies of cerebral palsy

SA Lewis, S Shetty, BA Wilson, AJ Huang… - Frontiers in …, 2021 - frontiersin.org
Cohort-based whole exome and whole genome sequencing and copy number variant
(CNV) studies have identified genetic etiologies for a sizable proportion of patients with …

[PDF][PDF] Cerebral palsy and genomics: an international consortium

AH MacLennan, MC Kruer… - Dev Med …, 2018 - minerva-access.unimelb.edu.au
SIR–Historically it was believed that the primary cause of cerebral palsy (CP) was
intrapartum complications, predominantly birth asphyxia. However, epidemiological studies …

The genomic basis of cerebral palsy: a HuGE systematic literature review

ME O'Callaghan, AH MacLennan, EA Haan, G Dekker… - Human genetics, 2009 - Springer
Cerebral palsy has been associated with a number of candidate genes. To date, no
systematic review has been conducted to synthesise genetic polymorphism associations …