Two Sisters From Qatar With TUSC3 Genetic Mutation: Psychiatric Considerations

Abstract

Defects in the tumor suppressor candidate 3 (TUSC3) gene have been identified in individuals with autosomal recessive intellectual disability (ARID). Our report on two sisters from Qatar with a mutation in the TUSC3 gene focuses on the behavioral manifestations and management provided to them. The sisters, daughters of consanguineous parents, exhibited aggressive and impulsive behavior, along with hyperactivity and emotional dysregulation. They also exhibited abnormal sleep and eating patterns. Behavioral therapy and psychotropic medications including aripiprazole 3.75mg, clonidine 0.025mg, and guanfacine 1mg were used for the management of aggressive and agitated behavior. The two girls showed a reduction in aggressive behavior, hyperactivity, impulsivity, and insomnia in response to 2mg daily of guanfacine. Few families around the world were reported to have mutations in the TUSC3 gene resulting in intellectual disability. We describe the first two reported cases of TUSC3 gene mutation in Qatar. We encourage further research to study the effects of TUSC3 gene mutation, its manifestations, and treatment.

Keywords: autosomal recessive disorders; clinical psychiatry; intellectual disability; psycho-diagnostics & therapy; psychoeducation.