Access to Care Limitations: When Distance and Lack of Evidence Meet

Jimmy is a 13-year-old adolescent boy who was diagnosed with Down syndrome (trisomy 21) prenatally. Jimmy is the only individual with Down syndrome in the small, rural community where he lives with his parents. He has mild sleep apnea, and his gross and fine motor developmental milestones were generally consistent with those expected among children with Down syndrome. At age 4, his parents raised concerns about his limited language, strong preference to be alone, and refusal to leave the house. Parents had observed his marked startle response to loud laughter and adult male voices. At age 7, his preferred activities consisted of dangling necklaces or shoelaces in front of his face and rocking his body forward and backward when seated. After limited progress in special education, speech, and occupational therapies, he was referred, at age 8, to a specialty center 3 hours from his home for a multidisciplinary evaluation. There, he received a diagnosis of co-occurring autism spectrum disorder (ASD).Over the last year, his repetitive behaviors have become more intense. He hits the side of his head with his fist and presses his thumbs into his eyes, causing bruising. Any attempts to remove his dangle objects are met with aggressive behaviors, including hitting, kicking, scratching, and elopement. At school, he refuses to complete work and sometimes hits his teacher. Aggression stops in the absence of educational demands. School staff informed parents they are not equipped to handle Jimmy's behaviors.Jimmy recently presented to the specialty center for developmental-behavioral pediatric and psychology support at the request of his primary care clinician. The developmental pediatrician discussed with Jimmy's parents the possibility of a trial of medication to address disruptive/aggressive behavior if there is not improvement with initiation of behavioral strategies. The psychologist began weekly behavioral parent training visits through telehealth, including prevention strategies, reinforcement, and functional communication training. The strategies have helped decrease the frequency of elopement and aggressive behaviors. Self-injurious behaviors and refusal at school have remained constant.Despite some stabilization, limited local resources as well as the lack of evidence-based guidelines for people with both Down syndrome and ASD have impeded improvements in Jimmy's significant behavioral and developmental challenges. His parents have become increasingly isolated from critical family and community support as well. In what ways could the clinicians and community support this child and his family and prevent others from experiencing similar hardships?