Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for...

Area of Science:

• Neurogenetics
• Psychopharmacology
• Clinical Psychiatry

Background:

• Rare genetic variations, including copy number variants (CNVs), are linked to schizophrenia risk.
• Limited data exists on antipsychotic treatment efficacy and tolerability in individuals with these genetic predispositions.

Purpose of the Study:

• To investigate the real-world effectiveness and tolerability of antipsychotic medications in individuals with genetic variants associated with schizophrenia.
• To gather preliminary data on psychopharmacological treatment in this understudied population.

Main Methods:

• Retrospective chart review at a developmental disabilities mental health clinic.
• Inclusion criteria: history of psychosis, antipsychotic exposure, and a known schizophrenia-associated genetic variant.
• Data extracted from electronic medical records.

Main Results:

• 24 individuals with relevant genetic variants were identified; 11 received antipsychotic treatment.
• Common genetic variants included 22q11.2 deletion syndrome and 15q11-q13 duplication syndrome.
• Antipsychotic therapy was generally effective and well-tolerated, especially in those without 22q11.2 deletion syndrome.

Conclusions:

• Preliminary evidence suggests antipsychotics may be relatively safe and effective for some genetic disorders associated with schizophrenia.
• Study limitations preclude definitive conclusions, but results warrant further investigation.