Hyperphagia and Down Syndrome

A.Z. is a 14-year-old young boy with Down syndrome and intellectual disability. As a baby and toddler, A.Z. struggled with swallowing dysfunction and recurrent aspiration, which improved by the time he was school aged. At the age of 2 years, his body mass index (BMI) was 95.98% (Z score 1.75). During his early school-age years, A.Z. began eating a wider variety of foods. As he grew taller and remained active, his BMI improved briefly during this time. Between ages 10 and 12 years, concerns regarding increased appetite and excessive weight gain emerged. His BMI increased from 82.56% (Z score 0.94) to 98.27% (Z score 2.11) during this time. He became insatiable; he ate when he was happy, upset, or bored. He had a compulsive need to eat all day, which escalated while staying home during the COVID pandemic. Despite having complete meals and a variety of snacks, he overate and sought out food and snacks, no matter the time of the day. Food also became a source of contention and a trigger for verbally and physically aggressive behavior when parents attempted to restrict food intake. Behavioral therapy was recommended to address his eating patterns as a part of his behavioral management plan.Over time, many strategies were used, including a token economy reward system, setting firm limits around snacking and meals, creating a food schedule with times and forced choice options, use of coping skill training, a feelings thermometer, and communication supports. These interventions had moderate intermittent success; however, overeating and consequent power struggles continued to be the major challenge reported by the family.He was started on a long-acting stimulant medication daily, intended to address impulsive and aggressive behaviors, and with potential benefit of appetite reduction. However, although there were some improvements in behavior, there was little to no effect noted on his appetite. Of note, he was diagnosed with celiac disease and severe obstructive sleep apnea at this time. A.Z. remained compliant with his gluten-free diet despite the challenges he experienced with food seeking and portion control. Overall, despite making excellent progress in behavioral regulation and performing particularly well in structured settings outside the home (i.e., school or summer camp), A.Z. continued to binge eat and seek out food with his most recent BMI at 98.62% (Z score 2.20).CASE 2: C.J. is a 9-year-old boy with Down syndrome and intellectual disability. As a toddler, C.J. had a brief period of time in which he was noted to overeat or not sense when he was full and subsequently gag or vomit after meals. At age 5 to 6 years, C.J. began demonstrating a more voracious appetite and increased weight gain; his BMI was 99.43% (Z score 2.53). Behavioral strategies, such as food schedules with forced choice options, were recommended. C.J. responded with increased dysregulation to the limit setting. An additional trigger for C.J. was the irregular visitation schedule with his father. He also hid and hoarded food; for example, he often ate food and hid the wrappers in the trash. Locking the refrigerator and cabinets resulted in binging on whatever he could find, such as ketchup packets. If C.J. wanted food during a time outside of his schedule, he was provided a list of alternative activities to choose from. It was recommended that his parent portion foods for him and set clear expectations of eating in the kitchen alone.C.J. was trialed on a short-acting alpha-agonist agent for 1 year to help address some of his behavioral challenges. Despite initial improvement on this regimen, behavioral challenges reemerged, and his eating behaviors worsened, so the medication was stopped. After stopping the medication, C.J. responded well to the limit setting, including regulating his own portion sizes and using a portion control plate. The family believed that the short-acting alpha-agonist worsened his food-seeking behaviors, although this was not clinically apparent. Despite having continued affinity for certain foods and snacks, C.J. was no longer binge eating or hoarding and hiding food. His most recent BMI remained elevated at 99.24% (Z score 2.43).