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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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35 hot topic(s) found with the query "Cerebral palsy"

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
(Posted: May 01, 2024 5PM)

From the abstract: " Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59?P/LP copy number variants. The genetic diagnostic rate of children with CP labeled at birth with perinatal asphyxia was higher than the rate in children without asphyxia."

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024 3 (Posted: Apr 01, 2024 9AM)

From the abstract: " 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 pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. An enrichment analysis revealed previously undescribed plausible candidate CP genes (SMOC1, KDM5B, BCL11A and CYP51A1). A multifactorial CP risk profile and substantial presence of P/LP variants combine to support WGS in the diagnostic work-up across all CP and related phenotypes."

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023 3 (Posted: Mar 07, 2023 6PM)

Is the diagnostic yield of exome or genome sequencing in cerebral palsy similar to that of other neurodevelopmental disorders for which exome sequencing is recommended as a first-tier clinical diagnostic test? In this systematic review and meta-analysis that included 13 studies and 2612 individuals with cerebral palsy, the diagnostic yield of exome or genome sequencing was 31.1%, which is similar to that of other neurodevelopmental disorders, regardless of comorbid intellectual disability/developmental delay.

All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing.
Clare van Eyk et al. JAMA pediatrics 2023 3 (Posted: Mar 07, 2023 6PM)

A recent meta-analysis provides strong data to justify the cost of genomic sequencing. The diagnostic yield for cerebral palsy is similar to other neurodevelopmental disorders, such as developmental delay, intellectual disability, and autism spectrum disorder, where genomic sequencing has been largely accepted as a first-tier test. Including genomic sequencing as a routine diagnostic test can circumvent lengthy, costly, and sometimes invasive clinical investigations to determine etiology where a clinical diagnosis of cerebral palsy has been made.

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy A Systematic Review and Meta-analysis
S Srivastava et al, JAMA Neurology, October 24, 2022 (Posted: Oct 24, 2022 0PM)

What is the molecular diagnostic yield of exome sequencing and chromosomal microarray for cerebral palsy (CP)? Through a systematic review and meta-analysis of 15 exome-sequencing and 5 chromosomal microarray CP study cohorts comprising 2419 individuals from 11 articles and 294 individuals from 5 articles, respectively, the molecular diagnostic yield of these technologies was found to be 23% and 5%, respectively.

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
CL van Eyk et al, NPJ Genomic Medicine, September 16, 2021 (Posted: Sep 17, 2021 6AM)

Despite increasing evidence for a major contribution of genetics to CP aetiology, genetic testing is currently not performed systematically. We assessed the diagnostic rate of genome sequencing (GS) in a clinically unselected cohort of 150 singleton CP patients, with CP confirmed at >4 years of age. Clinical grade GS was performed on the proband and variants were filtered, and classified according to American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) guidelines. Variants classified as pathogenic or likely pathogenic (P/LP) were further assessed for their contribution to CP. In total, 24.7% of individuals carried a P/LP variant(s) causing or increasing risk of CP, with 4.7% resolved by copy number variant analysis and 20% carrying single nucleotide or indel variants.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca Andrés et al. JAMA 2021 Feb (5) 467-475 (Posted: Feb 03, 2021 9AM)

Among 2 cohorts of patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
MA Corbett et al,. NPJ Genomic Medicine, Decemeber 2018 (Posted: Dec 20, 2018 8AM)

Genetic Link to Cerebral Palsy May be More Common Than Thought, Suggests Large Study Presented at NSGC Meeting
NSGC Blog, November 15, 2018 (Posted: Nov 16, 2018 9AM)

The genetic basis of cerebral palsy.
Fahey Michael C et al. Developmental medicine and child neurology 2017 Jan (Posted: Mar 13, 2017 0PM)

11 Things to Know about Cerebral Palsy
Brand (Posted: Mar 13, 2017 11AM)

Check out genes reported in relation to risk of cerebral palsy,
from the HuGE Navigator Brand (Posted: Apr 30, 2016 0AM)

11 Things to Know about Cerebral Palsy
Brand (Posted: Mar 15, 2016 11AM)

Integrative Review of Genetic Factors Influencing Neurodevelopmental Outcomes in Preterm Infants.
Blair Lisa M et al. Biological research for nursing 2016 Mar (2) 127-37 (Posted: Mar 15, 2016 10AM)

A diagnostic approach for cerebral palsy in the genomic era.
Lee Ryan W et al. Neuromolecular medicine 2014 Dec (4) 821-44 (Posted: Dec 10, 2015 5PM)

Key Findings: Birth Prevalence of Cerebral Palsy
Brand (Posted: Dec 10, 2015 5PM)

De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg Ricardo et al. Brain 2015 Jul (Pt 7) 1817-32 (Posted: Aug 04, 2015 8AM)

Genes determining the severity of cerebral palsy: the role of single nucleotide polymorphisms on the amount and structure of apolipoprotein E.
Lien Espen et al. Acta Paediatr. 2015 Jul (7) 701-6 (Posted: Aug 04, 2015 8AM)

Copy number variations in cryptogenic cerebral palsy.
Segel Reeval et al. Neurology 2015 Apr 21. (16) 1660-8 (Posted: Aug 04, 2015 8AM)

Clinically relevant copy number variations detected in cerebral palsy.
Oskoui Maryam et al. Nat Commun 2015 7949 (Posted: Aug 04, 2015 8AM)

Cerebral Palsy - Causes, pathways, and the role of genetic variants.
MacLennan Alastair H et al. Am. J. Obstet. Gynecol. 2015 May 20. (Posted: May 26, 2015 1PM)

Child apolipoprotein E gene variants and risk of cerebral palsy: Estimation from case-parent triads.
Stoknes Magne et al. Eur. J. Paediatr. Neurol. 2015 Jan 3. (Posted: Mar 25, 2015 10AM)

Clinical whole exome sequencing in child neurology practice.
Srivastava Siddharth et al. Ann. Neurol. 2014 Oct (4) 473-83 (Posted: Mar 25, 2015 10AM)

Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy.
Torres Vinicius M et al. J Pediatr (Rio J) 2015 Jan-Feb (1) 22-9 (Posted: Mar 25, 2015 10AM)

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
McMichael G et al. Mol. Psychiatry 2015 Feb (2) 176-82 (Posted: Mar 25, 2015 10AM)

Check out genetic conditions and tests associated with cerebral palsy
form the NIH Genetic Testing Registry Brand (Posted: Mar 25, 2015 10AM)

CDC Pop Quiz: Cerebral Palsy
Brand (Posted: Feb 25, 2015 0PM)

Cerebral palsy (CP) is a group of disorders that affect a person's ability to move and maintain balance and posture. CP is the most common motor disability in childhood.
CDC estimates that an average of 1 in 323 children in the U.S. have CP. Brand (Posted: Feb 25, 2015 0PM)

Spastic diplegia cerebral palsy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cerebral palsy spastic monoplegic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cerebral palsy spastic quadriplegic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cerebral palsy spastic hemiplegic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cerebral palsy athetoid
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cerebral palsy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cerebral palsy ataxic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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