Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior

Area of Science:

• Genetics
• Developmental Pediatrics
• Bioinformatics

Background:

• Developmental disabilities and aberrant behaviors are significant health concerns, particularly in low-income countries.
• Genetic factors play a crucial role in neurodevelopmental outcomes.
• High-resolution microarray analysis offers a powerful tool for identifying genetic variations.

Purpose of the Study:

• To evaluate the utility of high-resolution microarray analysis for identifying copy number variations (CNVs) and regions of homozygosity (ROH) in children with developmental disability and/or aberrant behavior.
• To assess the feasibility of using buccal cells for DNA isolation in a resource-limited setting.
• To estimate consanguinity status in a subset of participants.

Main Methods:

• DNA was isolated from buccal cells collected via cotton swabs from 233 infants and young children.
• High-resolution microarray analysis was performed on 15 randomly selected participants.
• Copy number variation (CNV) and ROH analysis were conducted to identify deletions, duplications, and estimate consanguinity.

Main Results:

• Adequate DNA yield was obtained from approximately 50% of participants.
• Ten participants exhibited CNVs involving candidate genes associated with behavioral or cognitive development.
• Five children displayed ROHs, suggesting potential recessive gene contributions, with three indicating consanguinity (first-second cousin relationships).

Conclusions:

• Buccal cell DNA isolation for high-resolution microarray analysis can be challenging but feasible in resource-limited settings.
• Microarray analysis successfully identified genetic variations impacting development and behavior, and revealed consanguinity in a subset of children.
• This preliminary study highlights the potential of genetic analysis in understanding developmental disabilities in diverse populations.