ABSTRACT

22q11.2-deletion syndrome is a genetic disorder caused by a small deletion of chromosome 22. This deletion often results in developmental delays, learning disabilities, medical conditions, and comorbid psychiatric conditions. Patients with 22q11.2DS may present with a variety of behavioral phenotypes including obsessiveness and rigidity, poor social skills, and anxiety. In some cases, the phenotype can consist of destructive and inappropriate behavior including harming self and others. Behavioral difficulties are reported as one of the most challenging aspects of 22q11.2-deletion syndrome for families of patients, however, few studies have examined behavioral interventions as a possible therapeutic treatment for this population. Using principles derived from operant-behavioral psychology, we conducted functional assessments to determine the environmental correlates of destructive and inappropriate behaviors in two adult men with 22q11.2-deletion syndrome. Subsequently, behavioral interventions based on differential reinforcement were incorporated into each participant’s natural environment to eliminate these behaviors. Significant reductions in destructive and inappropriate behavior were observed with both participants and therapeutic gains were maintained at follow-up. We discuss the role of behavioral interventions in combination with appropriate psychotropic medication when addressing challenging behaviors in this population.

摘要

22q11.2 缺失综合征是一种由 22 号染色体微小缺失引起的遗传疾病。这种缺失通常会导致发育迟缓、学习障碍、医疗状况和合并精神疾病。22q11.2DS 患者可能表现出多种行为表型，包括强迫症和僵化、社交技能差和焦虑。在某些情况下，表型可能包括破坏性和不当行为，包括伤害自己和他人。据报道，行为困难是 22q11.2 缺失综合征对患者家属最具挑战性的方面之一，但是，很少有研究将行为干预作为该人群的一种可能的治疗方法。使用源自操作行为心理学的原理，我们进行了功能评估，以确定两名患有 22q11.2 缺失综合征的成年男性的破坏性和不当行为的环境相关性。随后，基于差异强化的行为干预被纳入每个参与者的自然环境中，以消除这些行为。观察到参与者的破坏性和不当行为显着减少，并且在随访中保持了治疗收益。我们讨论了在解决这一人群中具有挑战性的行为时，行为干预与适当的精神药物相结合的作用。基于差异强化的行为干预被纳入每个参与者的自然环境中，以消除这些行为。观察到参与者的破坏性和不当行为显着减少，并且在随访中保持了治疗收益。我们讨论了在解决这一人群中具有挑战性的行为时，行为干预与适当的精神药物相结合的作用。基于差异强化的行为干预被纳入每个参与者的自然环境中，以消除这些行为。观察到参与者的破坏性和不当行为显着减少，并且在随访中保持了治疗收益。我们讨论了在解决这一人群中具有挑战性的行为时，行为干预与适当的精神药物相结合的作用。