Abstract
Objective
The 3q29 Deletion Syndrome, first described in 2005, is a rare chromosomal disorder which results in a wide array of symptoms. Affected individuals present with complex neuropsychiatric profiles. The associated phenotype for this syndrome may include developmental delay, intellectual disabilities, attentional deficits, behavioral disturbances, and social and emotional issues. These individuals are at a higher risk of developing autism or schizophrenia. This case study describes the neuropsychological profiles of two fraternal twin girls, age 7, only one of whom was diagnosed with 3q29 Deletion Syndrome.
Methods
Both girls received comprehensive neuropsychoeducational evaluations to compare and contrast the following dimensions: Neurocognitive, Intellectual, Educational, Attentional, School Behavioral, Affective, and Personality Functioning.
Results
Twin 1, positive for 3q29 Deletion Syndrome, exhibits significant affective, behavioral, and cognitive difficulties secondary to her chromosomal disorder, which included learning disabled and oppositional presentations and emotional dyscontrol. Twin 2 exhibited superior intellectual and social functioning.
Conclusions
This study contributes to the understanding of the clinical presentation of 3q29 Deletion Syndrome by examining the relationship between fraternal twin sisters. Findings are consistent with earlier reports of the chromosomal disorder’s phenotype, yielding neurocognitive, emotional, and behavioral difficulties. Though the twins have widely different neuropsychological profiles, they have a close relationship. Twin 2, who models excellent prosocial behaviors, will be an asset to Twin 1 in all spheres. Ongoing efforts to improve Twin 1’s neuropsychological, social/emotional, and behavioral functioning will be facilitated via both psychological and psychopharmacological interventions.
A Rare Chromosome 18p Deletion Syndrome in Abha City: A Case Study
