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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Behavioral Genetics and Its Designs01:23

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Genetic Testing in Neurodevelopmental Disorders.

Juliann M Savatt1, Scott M Myers1

  • 1Autism & Developmental Medicine Institute, Geisinger, Danville, PA, United States.

Frontiers in Pediatrics
|March 8, 2021
PubMed
Summary
This summary is machine-generated.

Genetic testing is crucial for diagnosing neurodevelopmental disorders like global developmental delay, intellectual disability, and autism spectrum disorder. Offering genetic evaluations can improve prognosis, management, and access to resources for affected children and families.

Keywords:
autismchromosomal microarrayexome sequencingfragile xgenetic testingglobal developmental delayintellectual disabilityneurodevelopment

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Area of Science:

  • Pediatric Genetics
  • Neurodevelopmental Disorders
  • Clinical Genetics

Background:

  • Neurodevelopmental disorders are common in pediatric primary care.
  • Comprehensive care necessitates identifying an underlying genetic cause.
  • Genetic etiology informs prognosis, recurrence risk, and management.

Purpose of the Study:

  • Review the utility of genetic testing in neurodevelopmental disorders.
  • Describe major genetic testing modalities and their diagnostic yields.
  • Address the gap in genetic testing for affected children.

Main Methods:

  • Review of genetic testing modalities: chromosomal microarray, exome sequencing, and FMR1 CGG repeat analysis.
  • Discussion of diagnostic yields and clinical utility.
  • Proposal of a structured approach for integrating genetic testing into pediatric practice.

Main Results:

  • Genetic testing offers significant diagnostic yield for neurodevelopmental disorders.
  • Despite recommendations, a minority of children with ASD and ID receive genetic testing.
  • Three major testing modalities (chromosomal microarray, exome sequencing, FMR1 analysis) are discussed.

Conclusions:

  • Genetic testing should be offered to all patients with global developmental delay, intellectual disability, and/or autism spectrum disorder.
  • Integrating genetic testing into pediatric care is essential to address current gaps.
  • Future considerations for genetic testing in neurodevelopmental disorders are discussed to prepare providers.