Missed Diagnosis: How Many Times Have You Seen This Happen?

Jerome is 22 years old. He enjoys NASCAR racing, going to the beach, and eating out at restaurants. He works 12 hours per week at a local grocery store and, in his leisure time, likes to watch sports on TV with his dad and brothers. Jerome uses a wheelchair and requires assistance with activities of daily living, including eating, dressing, and bathing. He communicates primarily through gestures, facial expressions, noises, and pictures, using the basic communication device he received in high school. He lives at home with his parents, who are his primary caregivers. He also receives personal care and employment support during the day from a paid supporter named Cecelia.

Cecelia recently approached Jerome’s mother because she has been noticing changes in his behavior over the past several months. Typically upbeat, Jerome has been frowning more and is less interested in activities that used to make him happy. Last week, when asked if he wanted to stop at a local café for lunch, he shook his head to indicate “no,” yelled, and banged his wheelchair. And this week, Jerome used his communication device to indicate “sick” and “stay home” on a workday-something he had never done before.

Jerome’s mother was also seeing subtle changes in Jerome that were concerning. She shared with Cecelia that Jerome was groaning a lot, not sleeping well at night, and seemed to be eating less than usual at mealtimes. He recently yelled at his brother and purposely knocked a bowl of snacks on the floor while getting ready to watch the Sunday afternoon football game- something he usually loves to do.   He had also started chewing on his hands, causing chafing and redness.

When asked about how he was feeling, Jerome dropped his head, grimaced, looked away, and, using his communication device, indicated he felt “sick,” “tired,” and “mad.”

Jerome’s mother scheduled an appointment with his primary care provider. Unfortunately, this appointment did not go well all around. The provider was new to the practice, as was Jerome, having recently transitioned from his long-time pediatric provider. Jerome and his mother waited for almost an hour past their scheduled appointment time, and when the provider came into the room, she did not acknowledge Jerome, speaking only to his

mother. A cursory exam was done at the same time Jerome’s mother was filling the provider in about his recent behavioral changes and his complaints of feeling sick and mad. In less than 15 minutes, the provider concluded that Jerome was “probably depressed given his situation” and recommended that Jerome be started on tricyclic anti-depressant medication.

In the meantime, Cecelia contacted Jerome’s case manager to inform her of her discussion with Jerome’s mom and to let her know the outcome of his appointment with his primary care provider. The case manager, who was also relatively new to Jerome, thanked Cecelia for the information. Recognizing that Jerome’s symptoms represented a change in health status, she accessed his web-based Health Risk Screening Tool (HRST) record and updated it accordingly.


Using the information provided by the case manager, the HRST recognized the possibility of an undiagnosed gastrointestinal condition as the potential cause of Jerome’s behavioral symptoms and produced a “service consideration” suggesting the need for clinical follow-up to rule out Gastroesophageal Reflux Disease (more commonly known as GERD).

Meanwhile, Jerome was taking his anti-depressant but wasn’t feeling any better. His behavior continued to deteriorate; he lost 12 pounds and called in sick to work so often that he was in danger of losing his job. He was exhausted from lack of sleep, as were his parents.

The case manager called Jerome’s mother to share the service consideration produced by the HRST and assisted her with obtaining a referral to see a gastroenterologist. As luck would have it, the gastroenterologist had a brother with disabilities, was happy to meet and talk with Jerome and his mother, and quickly recognized that Jerome’s “behaviors” were probably related to acid reflux which can cause pain and discomfort at mealtimes and is exacerbated when lying down in bed. Diagnostics were completed, and a diagnosis of GERD was made.

Jerome’s diet was adjusted, and his bed was positioned so that the head of the bed was higher than the foot of the bed. Medications, including antacids and H-2 (histamine) blockers, were ordered. Jerome’s primary care physician was consulted, and the tricyclic anti-depressant was discontinued because a diagnosis of depression no longer seemed appropriate and because this class of medications is to be avoided in people with GERD because it can actually worsen their symptoms.

Within two weeks, Jerome was back to his baseline, smiling, eating, working, and watching the NASCAR races with his brothers.

What happened in this situation?

Jerome was likely the victim of “diagnostic overshadowing,” a phenomenon that stems from cognitive bias and poses a serious health risk for people with intellectual and developmental disabilities (IDD). Often, symptoms that would otherwise be addressed through immediate medical evaluation are discounted and attributed to the person’s IDD. No further assessment is conducted, differential diagnoses are not considered, and medical conditions continue untreated, often while psychotropic medications are being given to “treat” the person’s symptoms. This bias is usually unconscious and can be addressed through healthcare provider education.

Fortunately, Jerome has attentive and knowledgeable caregivers and advocates who understand the importance of “looking beyond the symptoms,” access to a robust health risk management tool, and a disability-competent health care provider. However, there are many others who do not. In order to ensure health equity for all people with IDD, there is a need to:

  1. Ensure health care providers receive education to ensure they are disability healthcare competent
  2. Effectively monitor, identify, and address emerging health risks
  3. Educate support staff to recognize and report symptoms of the “Fatal Five Plus,” conditions most likely to lead to morbidity and mortality for people with IDD: aspiration, constipation, dehydration, seizures, sepsis, and GERD

IntellectAbility can help. Contact us for more information about the Health Risk Screening Tool (HRST), the Curriculum in IDD Healthcare, and our eLearn course on the Fatal Five.

The Fatal Five Plus

By Karen Green McGowan, RN-BC and Craig Escude, MD, FAAFP

The term “Fatal Five” refers to the top conditions linked to preventable deaths of people with intellectual and developmental disabilities (IDD) in congregate care settings or in community-based residential settings. While the issues can differ in order of frequency depending on the population being represented, the conditions most likely to result in death or health deterioration for people with IDD are:

  • Aspiration
  • Constipation/Bowel Obstruction
  • Seizures
  • Dehydration
  • Sepsis

Another condition which is exceedingly common, frequently overlooked, and leads to significant health troubles in people with IDD is Gastroesophageal Reflux Disease, also known simply as GERD.


Let’s talk about each one of these in a little more detail:

Aspiration is usually listed as the most common cause of death in institutional settings, including nursing homes and large group care settings for people with IDD. Aspiration pneumonia is a common discharge diagnosis following hospitalization. It occurs when bits of food or liquids make their way into the windpipe instead of into the esophagus where it should be. Aspiration can occur during the swallowing process, but also occurs when stomach contents come back up the esophagus as a result of vomiting or gastroesophageal reflux.  It often begins subtly and damages increasing portions of the lungs. Feeding tubes, which carry their own increased risks, are often utilized in an attempt to bypass the swallowing process and reduce aspiration episodes, but are not always entirely effective. Other factors which may lead to aspiration are poor body positioning, particularly in individuals who cannot control their own movements well, and behavioral issues related to eating. One of the most common signs of aspiration is a cough noted during eating or drinking or shortly thereafter. When a cough is noted under these conditions an evaluation should be initiated to look for possible aspiration.

One of the most common signs of aspiration is a cough noted during eating or drinking or shortly thereafter.

Constipation and Bowel Obstruction are almost always at the top of the list of causes of illness and preventable death in people with IDD. One of the most important root causes of bowel obstruction is the use of multiple drugs with constipating side effects. Add to this the fact that most of us have dietary habits that contribute to the problem, chief among them, diets that are low in fiber and adequate fluids. Lack of mobility is a contributing factor to constipation, as well. We often see people on one or more medications to help improve elimination, but ironically, drugs intended to improve constipation often place the person at higher risk for impaired bowel function. Adequate active movement or exercise is also important to bowel function. Controlling these factors, along with training caretakers to recognize the signs and symptoms of bowel problems at the earliest moment can greatly reduce occurrences of illness or death from bowel obstruction.

 Seizure deaths can occur from episodes of prolonged, uncontrolled seizures as well as something called SUDEP or sudden unexplained death in epilepsy. For reasons that medical science has yet to explain, people who have epilepsy have a higher chance of dying suddenly unrelated to actual seizure activity. Drug toxicity and medication side effects can further impact the health and well-being of people who take these medications, and the balance between adequately controlling someone’s seizures and the risk of adverse drug reactions must always be at the forefront of the treatment plan.  Life expectancy for people with active seizure disorders has been shown to be up to 10 years less than those without epilepsy.

Dehydration is all too common and easily preventable in most cases. People who do not swallow well are particularly likely to refuse fluids or indicate fear when they get them, often resulting in dehydration. Dehydration is also likely when fluids are restricted in an attempt to prevent incontinence, not realizing that lack of fluids can contribute to constipation and increased seizure frequency, not to mention drug toxicity and other health problems. Awareness of fluid loss through sweating in warm and humid conditions or from loss due to vomiting or persistently elevated blood glucose levels in people with diabetes is important, as well. The presence of fever also increases a person’s fluid needs. Anyone supporting people with IDD should be aware of a person’s fluid requirements and work to ensure that they receive the necessary fluids to prevent dehydration.

Sepsis, sometimes called “the silent killer” is an ever-present threat to all. Sepsis is a condition which results from a significant infection in the bloodstream and the body’s response to that infection. Early signs of sepsis include fever, chills, rapid heart rate, low blood pressure and mental status changes.  Some of these symptoms are common with may illnesses, but one’s index of suspicion should remain high for worsening signs of a serious infection and referral for a medical evaluation should be considered earlier rather than later. The risk of death increases significantly for each hour that passes when sepsis is left untreated. Remember, “When  in doubt, send them out!”

Early detection and treatment of these conditions can lead to better health, lower risk of death and improved quality of life for people with IDD.

Gastroesophageal reflux disease (GERD) is the backing up of stomach contents, including acid, into the esophagus. GERD is frequently undiagnosed in many people, including those without disabilities, until major harm has been done to the bottom of the esophagus. Medications that cause constipation also contribute to GERD. Individuals who are overweight, particularly when they carry excess weight around the abdomen or wear clothing that is too tight have a higher risk of GERD. Ill-advised dietary choices, immobility and improper positioning also contribute greatly to the incidence of GERD. As this disorder continues without treatment, discreet or frank aspiration, life-threatening gastrointestinal bleeding and esophageal cancer become increasingly common. Recognizing signs of GERD, especially in people who do not communicate with words, is important to reduce the risks associated with this condition. People who exhibit food refusal, coughing when lying down, physical or verbal aggression particularly around meal times, or distress in the middle of the night may be telling you that they are experiencing GERD. Pica, a behavior where people eat things of non-nutritional value, may also be a sign of GERD and should prompt an evaluation.

Early detection and treatment of these conditions can lead to better health, lower risk of death and improved quality of life for people with IDD. Make it a priority to educate yourself, support staff, families, and those with IDD to recognize signs of these conditions and to seek medical consultation at the earliest signs of illness.