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.

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