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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Mar 29, 2023
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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.

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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.