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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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20 hot topic(s) found with the query "Developmental disorders"

Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
RY Eberhardt et al, Genetics in Medicine, October 12, 2023 (Posted: Oct 13, 2023 1PM)

From the abstract: "We aim to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. We identified MCAs in SNP array data from 12,530 probands in the Deciphering Developmental Disorders (DDD) study. We found 61 MCAs in 57 probands, many of these were tissue specific. In 23/26 (88.5%) cases for which the MCA was detected in saliva where blood was also available for analysis, the MCA could not be detected in blood. The MCAs included 20 polysomies. "

A Double Whammy on Gastric Cancer Risk.
Anne Müller et al. The New England journal of medicine 2023 3 (13) 1225-1229 (Posted: Mar 30, 2023 4PM)

Germline mutations in genes encoding homologous-recombination proteins are associated with cancer predisposition, developmental disorders, and premature aging. Specifically, germline pathogenic variants in ATM, BRCA2, BRCA1, and PALB2 are known to cause a predisposition to breast, ovarian, prostate, and pancreatic cancer. Gastric cancer, at least in the context of H. pylori infection, has now been added to this list.

Teletherapy for children with developmental disorders during the COVID-19 pandemic in the Philippines: a mixed-methods evaluation from the perspectives of parents and therapists
KF Eguia et al, MEDRXIV, May 9, 2021 (Posted: May 09, 2021 7AM)

This study evaluated the delivery of teletherapy from the perspectives of parents and therapists. Methods: Participants consisted of parents (n = 47) and therapists (n = 102) of children with developmental disorders who were receiving teletherapy during the lockdown.

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.
Copeland H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb (Posted: Feb 20, 2021 0PM)

The clinical and psychosocial outcomes associated with receiving a genetic diagnosis for developmental disorders are wide-ranging but under-studied. We sought to investigate outcomes from a subset of families who received a diagnosis through the Deciphering Developmental Disorders (DDD) study.

Developmental Disabilities Heighten Risk of Covid Death
RC Rabin, NY Times, November 11, 2020 (Posted: Nov 12, 2020 8AM)

People with intellectual disabilities and developmental disorders are three times more likely to die of Covid-19, compared with patients without the conditions, a new analysis found.

Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis et al, Nature, October 14, 2020 (Posted: Oct 15, 2020 8AM)

We integrate healthcare and research exome-sequence data from 31,058 parent–offspring trios of individuals with developmental disorders. We identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders.

Will genome sequencing bring precision medicine for all?
A Anthony, The Guardian, September 28, 2019 (Posted: Sep 30, 2019 8AM)

There are conditions, particularly rare diseases such as childhood developmental disorders, where genome sequencing is extremely beneficial, and may even be life-saving for some individuals. There are also conditions – many common diseases, for example – where there is currently no evidence that genome sequencing is beneficial to individuals.

Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States.
Zhao Shixi et al. Journal of autism and developmental disorders 2019 Sep (Posted: Sep 25, 2019 9AM)

This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing.

Solving the mysteries of developmental disorders: The DDD study
A Cranage, Sanger Institute, October 16, 2018 (Posted: Oct 20, 2018 4PM)

Milestone reached in major developmental disorders project
Sanger Institute, October 2018 (Posted: Oct 16, 2018 8AM)

Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders
L Geddes, Mosaic, September 18, 2018 (Posted: Sep 20, 2018 0PM)

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Wright Caroline F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan (Posted: Jan 13, 2018 10AM)

High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders
JR Lemke, JAMA Pediatrics, July 31, 2017 (Posted: Jul 31, 2017 1PM)

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders
CL Martin et al, JAMA, June 27, 2017 (Posted: Jun 28, 2017 8AM)

Child gene study identifies new developmental disorders
F Walsh, BBC, January 25, 2017 (Posted: Jan 25, 2017 2PM)

Prevalence and architecture of de novo mutations in developmental disorders
Deciphering Developmental Disorders Study, Nature, January 25, 2017 (Posted: Jan 25, 2017 1PM)

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation
JF McRae et al, Biorxiv, April 2016 (Posted: Apr 22, 2016 10AM)

Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders.
Ross Lainie Friedman et al. Pediatr. Clin. North Am. 2015 Jun (3) 787-798 (Posted: Jul 02, 2015 1PM)

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright Caroline F et al. Lancet 2014 Dec 16. (Posted: Mar 19, 2015 5PM)

Childhood Interstitial Lung Disease
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, is a broad term for a group of rare lung diseases that can affect babies, children, and teens. These diseases have some similar symptoms, such as chronic cough, rapid breathing, and shortness of breath. These diseases also harm the lungs in similar ways. For example, they damage the tissues that surround the lungs' alveoli (al-VEE-uhl-eye; air sacs) and bronchial tubes (airways). Sometimes these diseases directly damage the air sacs and airways. The various types of chILD can decrease lung function, reduce blood oxygen levels, and disturb the breathing process. Overview Researchers have only begun to study, define, and understand chILD in the last decade. Currently, they don't know how many children have chILD. They also don't know how many children have each type of chILD. Diagnosing chILD and its specific diseases is hard because chILD is rare and complex. Also, chILD is a broad term for a group of diseases with similar symptoms?it's not a precise diagnosis. Interstitial lung disease (ILD) also occurs in adults. However, the cause of ILD in adults may be different than the cause in children. Some types of chILD are similar to the adult forms of the disease. They may even have the same names as the adult forms, such as hypersensitivity pneumonitis (noo-mo-NI-tis), immunodeficiency-associated lung disease, and bronchiolitis (brong-ke-o-LI-tis) obliterans. However, research shows that the course and outcomes of these diseases often are very different for children than for adults. Some ILDs only occur in children. They include: ?Lung growth abnormalities ?Neuroendocrine (noor-o-EN-do-krin) cell hyperplasia (hi-per-PLA-ze-ah) of infancy (NEHI) ?Pulmonary interstitial glycogenosis (gli-ko-JEN-eh-sis) ?Developmental disorders, such as alveolar (al-VE-o-lar) capillary dysplasia Outlook Each form of chILD may differ in its severity and how it's treated. Thus, getting a correct diagnosis is vital for understanding and treating your child's illness. You may want to consult a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions. This doctor's training and experience can help him or her diagnose chILD. The outlook for children who have chILD also depends on the specific type of disease they have. Some diseases are very severe and lead to early death. Others are chronic (long-term) diseases that parents and the child's medical team must work together to manage. At this time, chILD has no cure. However, some children who have certain diseases, such as NEHI, may slowly improve over time. Researchers are now starting to learn more about the causes of chILD. They're also trying to find distinct patterns and traits for the various forms of chILD. This information may help doctors better understand these diseases.


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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