Andrew is a 17-year-old male with Trisomy 21, commonly known as Down Syndrome (DS), and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of complete AV canal that was repaired as an infant as well as poorly controlled infantile spams. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia.
Andrew walked at 11-12 years of age. Currently, he ambulates on his feet at home and in a wheelchair out in the community. He is non-verbal but can imprecisely sign for “more” and understands a few words. Father reports his main concern is longstanding non-suicidal self-injury (NSSI) and aggression. His self-injury consists of head banging against hard objects such as concrete floors and biting or scratching himself to the point of bleeding. Over the past 13 years, he has been prescribed over 10 different psychotropic medications, including various typical and atypical antipsychotics, selective serotonin reuptake inhibitors, benzodiazepines, mood stabilizers, and alpha agonists, all of which were discontinued due to the perception of undesirable side effects or lack of efficacy. His current medications include aripiprazole, olanzapine, levetiracetam, clorazepate, and trazodone. To rule out causes of irritability, you order a brain and spine MRI, metabolic testing (for causes of NSSI such as Lesch-Nyhan), an autoimmune work-up (for causes of pain or inflammation such as juvenile idiopathic arthritis), and hearing/vision testing, which are all normal. Prior testing by sub-specialists (he is followed by Gastroenterology, Sleep Medicine, Orthopedics, Nephrology, Neurology, Cardiology and Psychiatry) included normal renal ultrasound and no clear sources of gastrointestinal pain. However, key providers are spread amongst multiple institutions and do not regularly communicate.
Andrew lives with his parents who are highly educated and very dedicated to his health and wellness. Mother travels frequently for work and father is Andrew’s full time caregiver. Despite remaining ostensibly positive, father reports significant caregiver burnout and fatigue.
Over the next several months, Andrew continues to experience worsening NSSI necessitating medication changes despite active involvement in ABA therapy. During this time, he presents to the emergency room multiple times for irritability and self-injury. On exam, he is aggressive, irritable, has bruises on his forehead and scratches on his skin, and has intermittent vertical gaze deviation that was noticeable to parents. The rest of his physical and neurological exam was unremarkable and revealed no asymmetry, clonus, hyperreflexia, or changes in muscle tone. While examining his extremities, joints and abdomen, there was no obvious source of pain.
What are your next steps? How would you support this family, both in the immediate management of his self-injury as well as long term care needs for this medically and behaviorally complex adolescent?