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Psychiatric features in children with genetic syndromes: toward functional phenotypes
Matthew S Siegel1, Wendy E Smith
1Department of Psychiatry, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02110, USA. siegem@springharbor.org
Insights
Genetic neurodevelopmental disorders offer insights into gene-brain-behavior links. Understanding common genetic conditions and their treatments aids child psychiatrists in managing diverse patient populations with developmental delays.
Area of Science:
- Child psychiatry
- Neurodevelopmental disorders
- Genetics
Background:
- Genetic etiologies in neurodevelopmental disorders provide a model for studying gene-brain-behavior relationships.
- Children with developmental delay have a higher prevalence of mental illness.
- Familiarity with common genetic disorders is crucial for practitioners serving general child populations.
Purpose of the Study:
- To review basic genetic testing.
- To discuss 11 common genetic disorders associated with neurodevelopmental conditions.
- To present the evidence base for treatment of these disorders.
Main Methods:
- Review of genetic testing procedures.
- Compilation of information on 11 prevalent genetic disorders.
- Synthesis of treatment evidence for each disorder.
Main Results:
- Overview of genetic testing in child psychiatry.
- Detailed review of 11 common genetic disorders.
- Summary of current treatment evidence for these conditions.
Conclusions:
- Child psychiatrists, with expertise in development and multimodal treatment, are well-suited to integrate various phenotypes.
- Focusing on functional impairment is key when addressing complex presentations in children with genetic disorders.
- Understanding genetic conditions improves care for children with developmental delays and associated mental health issues.
Abstract:
Neurodevelopmental disorders with identified genetic etiologies present a unique opportunity to study gene-brain-behavior connections in child psychiatry. Parsing complex human behavior into dissociable components is facilitated by examining a relatively homogenous genetic population. As children with developmental delay carry a greater burden of mental illness than the general population, familiarity with the most common genetic disorders will serve practitioners seeing a general child population. In this article, basic genetic testing and 11 of the most common genetic disorders are reviewed, including the evidence base for treatment. Based on their training in child development, family systems, and multimodal treatment, child psychiatrists are well positioned to integrate cognitive, behavioral, social, psychiatric, and physical phenotypes, with a focus on functional impairment.
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