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RCH PHGKB

Specific PHGKB|Reproductive and Child Health PHGKB|PHGKB
Last Posted: Aug 05, 2022
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Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.
Rajagopal Veera M et al. Nature genetics 2022 8

We evaluated genetic differences among childhood (n?=?14,878), persistent (n?=?1,473) and late-diagnosed (n?=?6,961) ADHD cases alongside 38,303 controls, and rare variant differences in 7,650 ADHD cases and 8,649 controls. We identified four genome-wide significant loci for childhood ADHD and one for late-diagnosed ADHD. We found increased polygenic scores for ADHD in persistent ADHD compared with the other two groups. Childhood ADHD had higher genetic overlap with hyperactivity and autism compared with late-diagnosed ADHD.

Clinical use of artificial intelligence in endometriosis: a scoping review
B Sivajohan et al, NPJ Digital Medicine, August 4, 2022

Endometriosis is a chronic, debilitating, gynecologic condition with a non-specific clinical presentation. Globally, patients can experience diagnostic delays of ~6 to 12 years, which significantly hinders adequate management and places a significant financial burden on patients and the healthcare system. Through artificial intelligence (AI), it is possible to create models that can extract data patterns to act as inputs for developing interventions with predictive and diagnostic accuracies that are superior to conventional methods and current tools used in standards of care.

Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022

Fragile X syndrome (FXS) is a rare genetic disorder that has a major effect on a person’s life. It is the most common cause of inherited intellectual disability, yet there are still many unanswered questions about its effect on the day-to-day lives of people living with FXS and their families. Learn what CDC and partners are doing to learn more about FXS, one case at a time.

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
L Lanoo et al, EJHG, July 27, 2022

Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and 21. Using genome-wide screening also other “rare” autosomal trisomies (RATs) can be detected with a frequency about half the frequency of the common trisomies in the large population-based studies. Large prospective studies and clear clinical guidelines are lacking to provide adequate counseling and management to those who are confronted with a RAT as a healthcare professional or patient.


news Latest News and Publications
A Cross-Sectional Study of the Marital Attitudes of Pregnant Women at Risk for Cystic Fibrosis and Psychological Impact of Prenatal Screening. External Web Site Icon
Popa Zoran Laurentiu et al. International journal of environmental research and public health 2022 19(14)
Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study. External Web Site Icon
Chudleigh Jane et al. Journal of participatory medicine 2022 14(1) e33485
Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation. External Web Site Icon
Dolce Daniela et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications. External Web Site Icon
Rooney Kathleen et al. International journal of molecular sciences 2022 23(14)
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency. External Web Site Icon
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Making Decisions About Krabbe Disease Newborn Screening. External Web Site Icon
Kurtzberg Joanne et al. Pediatrics 2022 150(2)
MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders. External Web Site Icon
Wong Anthony et al. Genes 2022 13(8)
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency. External Web Site Icon
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Newborn Screening by Genomic Sequencing: Opportunities and Challenges. External Web Site Icon
Bick David et al. International journal of neonatal screening 2022 8(3)
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity. External Web Site Icon
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446

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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.

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