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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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41 hot topic(s) found with the query "Developmental disabilities"

What’s the “value” of exome sequencing in children with neurodevelopmental disorders?
MJ Khoury, CDC Blog Post, October 16, 2019 Brand (Posted: Oct-17-2019 9AM)

Decisions as to which genetic tests are reimbursed by third-party payers may be shaped as much by payers’ perceptions and preferences as by evidence regarding benefits and costs, which is reflected in inconsistency in payer coverage decisions. The perceived “value” of genetic tests, depends in large part on which benefits are considered to matter.

A large data resource of genomic copy number variation across neurodevelopmental disorders
Mehdi Zarrei, et al. Genomic Medcine, October 7, 2019 (Posted: Oct-10-2019 8AM)

Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), and obsessive-compulsive disorder (OCD) at once. The study found clinically relevant CNVs (broadly defined) in 284 (10.5%) of total subjects.

Increase in Developmental Disabilities Among Children in the United States
CDC, September 2019 Brand (Posted: Oct-02-2019 8AM)

Technology Tools: Increasing Our Reach in National Surveillance of Intellectual and Developmental Disabilities.
Wagner Jordan B et al. Intellectual and developmental disabilities 2019 Oct 57(5) 463-475 (Posted: Oct-02-2019 8AM)

Team links gene to children with physical and intellectual disabilities
S Yozwiak, Medical Xpress, August 15, 2019 (Posted: Aug-16-2019 8AM)

The results of a study published in the American Journal of Human Genetics, suggest that rare variants in the gene DDX6 are associated with a significant disruption in the development of the central nervous system, governing such basic skills as the ability to walk and talk.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
S Srivastava et al, Genetics in Medicine, June 10, 2019 (Posted: Jun-11-2019 7AM)

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
F Lecoquierre et al, Genetics in Medicine, April 30, 2019 (Posted: Apr-30-2019 8AM)

Why Act Early if You’re Concerned about Development?
CDC, April 2019 Brand (Posted: Apr-29-2019 1PM)

Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles Heather et al. Pediatric neurology 2018 Nov (Posted: Jan-02-2019 10AM)

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

Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.
Baio Jon et al. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) 2018 Apr (6) 1-23 (Posted: Apr-30-2018 0PM)

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Jamuar Saumya S et al. The Journal of pediatrics 2018 Feb (Posted: Feb-06-2018 11AM)

Ethnic and population differences in the genetic predisposition to human obesity.
Stryjecki C et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2018 Jan (1) 62-80 (Posted: Jan-13-2018 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)

Health and Development at Age 19-24 Months of 19 Children Who Were Born with Microcephaly and Laboratory Evidence of Congenital Zika Virus Infection During the 2015 Zika Virus Outbreak - Brazil, 2017.
Satterfield-Nash Ashley et al. MMWR. Morbidity and mortality weekly report 2017 Dec (49) 1347-1351 (Posted: Dec-15-2017 9AM)

Emerging Monogenic Complex Hyperkinetic Disorders.
Carecchio Miryam et al. Current neurology and neuroscience reports 2017 Oct (12) 97 (Posted: Nov-01-2017 3PM)

Public Health Literature Review of Fragile X Syndrome.
Raspa Melissa et al. Pediatrics 2017 Jun 139(Suppl 3) S153-S171 (Posted: Aug-30-2017 9AM)

Strategic Plan 2017-2022
National Center on Birth Defects and Developmental Disabilities, 2017 Brand (Posted: Jun-28-2017 1PM)

A step closer to personalized medicine for intellectual disability: 26 novel genes identified
Newswire Ca, April 12, 2017 (Posted: Apr-12-2017 10AM)

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)

Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling et al, BioXRV, November 2016 (Posted: Nov-04-2016 1PM)

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
CH Hensel et al, BioXRIV, October 26, 2016 (Posted: Oct-27-2016 11AM)

Utilization of genetic testing among children with developmental disabilities in the United States.
Kiely Bridget et al. The application of clinical genetics 2016 993-100 (Posted: Aug-03-2016 9AM)

Exome Sequencing and the Management of Neurometabolic Disorders
Maja Tarailo-Graovac et al, NEJM May 25, 2016 (Posted: May-26-2016 0AM)

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

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)

Genetic studies in intellectual disability and related disorders.
Vissers Lisenka E L M et al. Nature reviews. Genetics 2015 Oct (Posted: Oct-28-2015 4PM)

Causes of developmental disabilities include genetics
Brand (Posted: Oct-28-2015 4PM)

Developmental disabilities are a group of conditions due to an impairment in physical, learning, language, or behavior areas.
About one in six children in the U.S. have one or more developmental disabilities or other developmental delays Brand (Posted: Oct-28-2015 4PM)

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun (Posted: Jul-20-2015 2PM)

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun (Posted: Jul-15-2015 4PM)

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun (Posted: Jul-15-2015 3PM)

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee Hane et al. JAMA 2014 Nov 12. (18) 1880-7 (Posted: Jul-06-2015 10AM)

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair Nancy et al. Mol Cytogenet 2015 26 (Posted: May-26-2015 1PM)

Twins and virtual twins: Do genetic (as well as experiential) factors affect developmental risks?
Segal Nancy L et al. J Exp Child Psychol 2015 Apr 17. 55-69 (Posted: Apr-25-2015 11AM)

Annual Research Review: Rare genotypes and childhood psychopathology - uncovering diverse developmental mechanisms of ADHD risk.
Scerif Gaia et al. J Child Psychol Psychiatry 2015 Mar (3) 251-73 (Posted: Apr-02-2015 1PM)

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

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)

Disturbance of posture in children with very low lead exposure, and modification by VDR FokI genotype.
Pawlas Natalia et al. Ann Agric Environ Med 2014 (4) 739-44 (Posted: Mar-15-2015 1PM)

Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics 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.