Communication ability in persons with trisomy 18 and trisomy 13

Area of Science:

• Genetics and Developmental Disorders
• Communication Sciences and Disorders
• Pediatric Neurology

Background:

• Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are severe chromosomal abnormalities.
• Individuals with these conditions often face significant challenges in communication development.
• Assessing communication in this population requires specialized and sensitive methods.

Observation:

• The study included 10 participants (8 with Trisomy 18, 2 with Trisomy 13), mean age 15.96 years.
• Data collection involved caregiver reports and video-recorded communication temptation tasks.
• Caregivers provided information on receptive and expressive language, including words and gestures.

Findings:

• Auditory comprehension was found to be significantly higher than expressive language abilities.
• No participants produced intelligible words or word approximations.
• The majority of participants effectively utilized hand gestures for communication.

Implications:

• The findings highlight a potential disparity between understanding and production in individuals with Trisomy 18 and 13.
• Gesture production appears to be a more prevalent and viable communication modality.
• This study introduces a promising approach for evaluating communication in these rare genetic disorders.