Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

Area of Science:

• Genetics
• Psychology
• Developmental Biology

Background:

• Mosaic Down syndrome (mDS) presents with variable symptom severity compared to non-mosaic Down syndrome.
• The behavioral phenotype of mDS remains undercharacterized, particularly concerning internalizing symptoms.

Purpose of the Study:

• To investigate the prevalence of depression and anxiety symptoms in individuals with mDS.
• To explore the association between these symptoms and the percentage of trisomy 21 in cells.
• To assess the feasibility of mDS individuals participating in self-report and caregiver-report studies.

Main Methods:

• A sample of 62 participants with mDS (aged 12-46) completed self-report and caregiver-report measures.
• Statistical analyses, including MANCOVA and univariate tests, were used to examine symptom prevalence and associations.
• Trisomy 21 percentage in blood and/or buccal mucosa cells was correlated with reported symptoms.

Main Results:

• A significant effect of trisomy on internalizing scales was observed overall (p=0.038), controlling for age and gender.
• Initial findings suggested a link between trisomy and fear (p=0.049), but this did not remain significant after multiple comparison corrections.
• No other significant associations were found between trisomy percentage and specific symptoms.

Conclusions:

• Individuals with mDS exhibit a high occurrence of depression and anxiety symptoms.
• Regular screening for these mental health conditions is recommended for optimal care of mDS patients.
• The study confirms that individuals with mDS can effectively participate in research evaluations, supporting their inclusion in future studies.