Identification, evaluation, and management of children with autism spectrum disorder
SL Hyman, SE Levy, SM Myers, DZ Kuo, S Apkon… - …, 2020 - publications.aap.org
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
[HTML][HTML] Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental …
S Srivastava, JA Love-Nichols, KA Dies… - Genetics in …, 2019 - Elsevier
Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
MT Carter, M Srour, PYB Au, D Buhas… - Journal of Medical …, 2023 - jmg.bmj.com
Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …
clinicians regarding the use of genetic and metabolic investigations for patients with …
The genetics of microdeletion and microduplication syndromes: an update
Chromosomal abnormalities, including microdeletions and microduplications, have long
been associated with abnormal developmental outcomes. Early discoveries relied on a …
been associated with abnormal developmental outcomes. Early discoveries relied on a …
Rare disease emerging as a global public health priority
CCY Chung, Hong Kong Genome Project… - Frontiers in Public …, 2022 - frontiersin.org
The genomics revolution over the past three decades has led to great strides in rare disease
(RD) research, which presents a major shift in global policy landscape. While RDs are …
(RD) research, which presents a major shift in global policy landscape. While RDs are …
Ethical and policy issues in genetic testing and screening of children
Committee on Bioethics… - …, 2013 - publications.aap.org
The genetic testing and genetic screening of children are commonplace. Decisions about
whether to offer genetic testing and screening should be driven by the best interest of the …
whether to offer genetic testing and screening should be driven by the best interest of the …
[HTML][HTML] The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital …
Intellectual developmental disorders (IDD), characterized by significant impairment of
cognitive functions, with limitations of learning, adaptive behavior and skills, are frequent …
cognitive functions, with limitations of learning, adaptive behavior and skills, are frequent …