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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, Boston, MA 02110, USA. siegem@springharbor.org
Insights
Genetic neurodevelopmental disorders offer insights into gene-brain-behavior links. Understanding common genetic conditions aids child psychiatrists in managing diverse patient needs and functional impairments.
Area of Science:
- Child Psychiatry
- Neurodevelopmental Disorders
- Genetics
Background:
- Genetic etiologies in neurodevelopmental disorders provide models for gene-brain-behavior research.
- Children with developmental delay have higher rates of mental illness, necessitating clinical awareness.
- Understanding genetic disorders is crucial for practitioners managing general child populations.
Purpose of the Study:
- To review basic genetic testing and common genetic disorders.
- To examine the evidence base for treatments in these disorders.
- To highlight the role of child psychiatrists in integrating complex phenotypes.
Main Methods:
- Review of basic genetic testing procedures.
- Compilation of information on 11 common genetic disorders.
- Synthesis of evidence for treatment strategies.
Main Results:
- Identified 11 common genetic disorders associated with neurodevelopmental issues.
- Summarized current evidence for treatment options.
- Emphasized the importance of a multimodal approach.
Conclusions:
- Child psychiatrists can leverage their expertise to integrate genetic, developmental, and psychiatric data.
- Focusing on functional impairment is key in managing these complex cases.
- Familiarity with genetic disorders improves care for children with developmental delay.
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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