Behavior Change in a Woman With Down Syndrome: Medical Workup Before Psychiatry
Ms. K is a 29-year-old woman with Down syndrome and mild intellectual disability who lives in a four-person group home and attends a day program. Over three weeks, staff report she has hit a peer twice, refuses lunch, sleeps about 10 hours nightly plus a 2-hour afternoon nap, and has gained 4 kg in two months. She has new loud snoring and wakes with a dry mouth. Her only regular medication is levothyroxine; her last TSH was 14 months ago. She has chronic constipation treated with polyethylene glycol. The day program manager says the behavior began when a new roommate moved in and asks you to support a referral for a psychiatric evaluation and a behavior plan. Ms. K tells you she 'doesn't like the noisy new lady' and rubs her jaw. She is afebrile; BP 118/74; pulse 88; weight 82 kg; she is 152 cm tall. No seizures have been reported. Her gait is steady.
1. What is your prioritized assessment plan, and which medical conditions must be considered before attributing this change to the new roommate? Explain your reasoning.
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The priority is to look for a medical cause of a behavioral change in a person with Down syndrome and limited communication. I would obtain a full set of vital signs, a weight trend, a pain assessment using a validated tool, and a focused examination: ears, teeth, gums, throat, skin, abdomen, gait, and thyroid. I would review the medication record, bowel pattern, menses, sleep, and recent laboratory results.
Before a psychiatric label, consider hypothyroidism, which has not been checked for 14 months and can cause weight gain and sleepiness; obstructive sleep apnea, suggested by new snoring, dry mouth, daytime sleepiness, and weight gain; dental pain, suggested by jaw rubbing; constipation; celiac disease; hearing or vision change; depression; and medication effects. Down syndrome raises the risk of thyroid disease and sleep apnea, and both can present as aggression and withdrawal. I would also screen for abuse or roommate conflict. The timing with the new roommate is a hypothesis, not a conclusion. I would start an ABC sleep and behavior log and ask the day program for the same data so we can see whether the behavior is situation-specific.
2. How would you respond to the day program manager's request for a psychiatric referral and behavior plan, and what would you recommend to the interdisciplinary team?
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I would not refuse the referral, but I would sequence it correctly. A psychiatric evaluation can proceed in parallel if it is timely, but a behavior plan built on an untreated medical problem will fail and may lead to restrictive interventions. I would tell the manager what I am doing and why, ask for two weeks of objective data, and set a date to reconvene.
I would request from the primary care provider a TSH and free T4, CBC, metabolic panel, celiac screening if not already done, a dental examination, and a sleep study referral, plus hearing and vision screening and a stool and constipation review. I would ask the team to define target behaviors operationally and track antecedent, behavior, consequence, and sleep. If the workup is negative, the behavior plan should include communication supports, choice, and gradual introduction to the roommate, not just a psychiatric label. The nurse's role is to keep the medical differential open without dismissing the staff's concern.
3. What would you teach staff about diagnostic overshadowing and data collection in this case?
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Diagnostic overshadowing is attributing every change to the person's disability or to a psychosocial cause, such as 'she has Down syndrome' or 'she is jealous,' and missing pain, sleep apnea, thyroid disease, or infection. I would use this case to show that three weeks of changed sleep, appetite, weight, snoring, and jaw rubbing are not explained by a new roommate alone.
Teach staff to report what they see, not what they infer: 'she ate 25% of lunch and held her jaw,' not 'she is being stubborn.' Give them a one-page sleep, behavior, and pain log with times and simple checkboxes. Ask them to record snoring, gasping, naps, bowel movements, and any change from baseline. Explain that a behavior plan can coexist with a medical workup, but if a medical cause is found, the plan must be revised. Set a feedback loop so staff see their data being used; that improves reporting more than telling them to document better.