Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

ND PHGKB

Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Mar 29, 2023
spot light Spotlight

Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population
T DIjsktra et al, EJHG, March 27, 2023

A Delphi procedure carried out in a larger group of expert physicians led to consensus on five family criteria that focus on cardiovascular events at young age (i.e., sudden death, any CVD, implantable cardioverter-defibrillator, aortic aneurysm) and/or an inherited CVD in one or more close relatives. We then applied these family criteria to a high-risk cohort from a clinical genetics department and demonstrated that they have substantial diagnostic accuracy. After further evaluation in a general population cohort, we decided to only use the family criteria for first-degree relatives.

What is Autism Spectrum Disorder?
CDC, 2023

Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain. Some people with ASD have a known difference, such as a genetic condition. Other causes are not yet known. Scientists believe there are multiple causes of ASD that act together to change the most common ways people develop.

Keeping Quiet About Genetic Risk.
Susanna J Smith et al. Health affairs (Project Hope) 2023 3 (3) 443-447

Genetic information has many uses and implications: financial, psychological, clinical, and reproductive. Knowing my at-risk status, I want to protect my family financially. I want to ensure that I don’t pass on CADASIL. If I show up in an emergency room exhibiting stroke symptoms, I would actually prefer to have my CADASIL test results in a secure file so that health care providers can treat me appropriately. But I don’t want to spend fifteen, twenty, thirty years living with knowledge that my mind is about to fail or carrying the guilt of knowing I have been spared, waiting for other people in my family to falter.

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

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.


news Latest News and Publications
A specific anti-COVID-19 BNT162b2 vaccine-induced early innate immune signature positively correlates with the humoral protective response in healthy and multiple sclerosis vaccine recipients. External Web Site Icon
Severa Martina, et al. Clinical & translational immunology 2023 0 0. (3) e1434
Explainable Machine Learning Model to Predict COVID-19 Severity Among Older Adults in the Province of Quebec. External Web Site Icon
Rahimi Samira, et al. Annals of family medicine 2023 0 0. (21 Suppl 1)
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases. External Web Site Icon
Bucciol Giorgia, et al. The Journal of clinical investigation 2023 0 0.
Risk Factors and Predictive Modeling for Post-Acute Sequelae of SARS-CoV-2 Infection: Findings from EHR Cohorts of the RECOVER Initiative. External Web Site Icon
Zang Chengxi, et al. Research square 2023 0 0.
Assessing the performance of genetic risk score for stratifying risk of post-sepsis cardiovascular complications. External Web Site Icon
Brian McElligott et al. Frontiers in cardiovascular medicine 2023 101076745
Genetics of longitudinal kidney function in children and adults with systemic lupus erythematosus. External Web Site Icon
Thai-Son Tang et al. Rheumatology (Oxford, England) 2023
Impact of Genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: a systematic review. External Web Site Icon
Shubham Misra et al. European journal of neurology 2023
Mediterranean diet adherence is associated with lower dementia risk, independent of genetic predisposition: findings from the UK Biobank prospective cohort study. External Web Site Icon
Oliver M Shannon et al. BMC medicine 2023 21(1) 81
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience. External Web Site Icon
Annemieke Aartsma-Rus et al. Journal of neuromuscular diseases 2023
Utility of Polygenic Risk Scoring to Predict Cognitive Impairment as Measured by Preclinical Alzheimer Cognitive Composite Score. External Web Site Icon
Q Gao et al. JAR life 2023 111-8

More

About ND PHGKB

Neurological Disorders (ND) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to neurological disorders....more

Content Summary

Common ND Related Topics

Quick Links


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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.

TOP