Identifying a failure-to-thrive fraternal twin profile with 3q29 deletion syndrome

Area of Science:

• Genetics
• Neuropsychology
• Developmental Pediatrics

Background:

• 3q29 deletion syndrome is a rare chromosomal anomaly identified in 2005.
• It is associated with a complex neuropsychiatric profile, including developmental delays and behavioral issues.
• The syndrome is rarely studied in fraternal twins where only one is affected.

Purpose of the Study:

• To present a case study of a twin with 3q29 deletion syndrome.
• To analyze the neuropsychological profile of an affected twin.
• To compare longitudinal neuropsychological data and identify a failure-to-thrive pattern.

Main Methods:

• Case study methodology.
• Neuropsychological assessment using the Reitan-Indiana Neuropsychological Battery (RINB).
• Longitudinal data analysis of cognitive and behavioral function.

Main Results:

• Detailed analysis of Twin 1's strengths and weaknesses.
• Comparison of 2020 and 2022 neuropsychological data.
• Identification of a failure-to-thrive profile in the affected twin.

Conclusions:

• This case provides insight into the rare presentation of 3q29 deletion syndrome in fraternal twins.
• Longitudinal neuropsychological evaluation is crucial for understanding the developmental trajectory.
• The findings highlight the need for tailored interventions for individuals with 3q29 deletion syndrome.