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.

Ensuring Equitable Healthcare for People with IDD is not the “Medical Model”

By Craig Escude, MD, FAAFP, FAADM
This article was originally published in Helen: The Journal of Human Exceptionality, a publication of the American Academy of Developmental Medicine and Dentistry. We invite you to subscribe by visiting their site.

Let’s Get Something Straight: Ensuring Equitable Healthcare for People with IDD is not the “Medical Model!”

The “Medical Model” is a term used to describe an outdated way of viewing intellectual and developmental disabilities and is associated with the approach taken during the years when large numbers of people with IDD lived in institutions, where doctors and nurses were the primary drivers of service delivery. The Medical Model sees disability as a “defect” within the person and contends that the person needs to be “cured” or “fixed” in order for them to have a good quality of life. Seeing a disability as a deficit can lead to lower self-esteem and perpetuate the mindset among clinicians that people with IDD have a lower quality of life and do not deserve the same level of healthcare that people without IDD receive. The Medical Model can promote feelings of sympathy, pity, or shame towards people with IDD, and often, people are unaware of this bias.

The Medical Model has been rejected by many in favor of the Social Model of disability. This model focuses on the intersection between disabilities and the environment within which the person lives and promotes the creation of environments that are more accessible for all. The Social Model calls for an end to discrimination through education, accommodation, and the universal design of structures and environments to facilitate accessibility for everyone.  Within the Social Model, there is an understanding that people with disabilities should have equitable access to qualified nursing, medical and other supports, sufficient to ensure they receive the same functional supports, preventive care, and ongoing medical care as people who do not have a disability.

Attaining disability clinical competency among healthcare providers and ensuring equitable access to health care for people with disabilities is in direct opposition to the Medical Model as is identifying health risks and educating supporters about how to recognize them and mitigate them.  Educating healthcare providers and other supporters to meet the health care needs of people with IDD is exactly what the Social Model of disability calls for; changing the environment to better meet the needs of everyone. Having access to disability-competent healthcare providers who recognize the sometimes unique health needs of people with IDD, who understand the link between adverse behaviors and the need to look for underlying, treatable medical conditions, and who recognize that people with IDD are people first will go a long way to improving overall health, wellness and quality of life for people with IDD.

Let’s not say that the term “medical” is related to the medical model. Let’s not say that using the term “patient” to describe a person who is receiving healthcare suddenly takes on a derogatory meaning when applied to people with IDD. Anyone who seeks medical care is appropriately called a “patient.” And definitely, let’s not throw around the term “Medical Model” any time someone talks about the importance of equitable access to evidence-based preventive and ongoing healthcare for people with or without IDD. We should never go back to the medical model of disability, but advocating for well-trained, disability-competent clinicians and supporters of people with IDD who can recognize, prevent and appropriately respond to health issues is a far cry from the errant views of the past and are grand steps to reducing health disparities and achieving health equity for all.

Attaining Disability Competent Healthcare

By Craig Escudé, MD, FAAFP, FAADM

Have you ever accompanied someone with an intellectual disability to a medical appointment due to a new, concerning behavior, only to be told by the clinician that they are doing this just because of their disability? That’s diagnostic overshadowing- a term that describes when clinicians attribute a new or untoward behavior to the fact that the person has an intellectual disability rather than looking for some underlying medical or environmental cause. And it is all too common in the medical profession. Why? The primary reason is the lack of training of clinicians to adequately meet the healthcare needs of people with intellectual and developmental disabilities (IDD).

The National Council on Disability released the Health Equity Framework for People with Disabilities in February of 2022. In it, the Council calls for 4 main changes that are needed to improve healthcare for people with disabilities, including those with IDD:

  1. Designating people with disabilities as a Special Medically Underserved Population (SMUP) under the Public Health Services Act
  2. Requiring comprehensive disability clinical-care curricula in all US medical, nursing, and other healthcare professional schools and require disability competency education and training of medical, nursing, and other healthcare professionals
  3. Requiring the use of accessible medical and diagnostic equipment
  4. Improving data collection concerning healthcare for people with disabilities across the lifespan

All four, along with the thirty-five additional recommendations in the document are important to achieve health equity for people with disabilities, but let’s talk about number two in more detail.

Disability Competency versus Clinical Competency

Becoming disability competent should be a requirement of every clinician, hospital, and healthcare payor entity including health maintenance organizations and fee for service payors. But, for clinicians, disability competency is not enough. A simple definition of disability competency is where the basic premises of the world of people with IDD is understood. Examples might include understanding different ways a person may communicate, appreciating the network of support upon which many people with disabilities rely, and understanding the necessity of creating physical environments where people with disabilities have equal access with the availability of scales that can weigh people in wheelchairs, exam tables that can move to lower positions to allow access, and the like. But healthcare providers must go beyond this level of understanding to attain true disability clinical competency. They must acquire the clinical and diagnostic skills that foster the provision of competent healthcare to people with IDD.

Two main groups of clinicians must be trained to achieve disability clinical competency. The first group consists of clinicians in training such as medical students, nursing and nurse practitioner students, dental students, and allied health professional students. The second group is made up of clinicians that are already out in practice. Two different approaches must be taken to achieve clinical competency among both groups.


Healthcare Professional Students

IDD healthcare curricula must be incorporated into every clinical training program in the US and abroad. There are two main components to achieving clinical competency: didactic education and hands-on clinical experience.

Didactic instruction should focus on teaching information such as what behaviors might be pointing to specific, treatable underlying medical or dental conditions in a person who does not uses words to communicate, the steps to take to evaluate the cause of newfound aggressive behavior in a person with IDD, the most common causes of preventable illness and death in people with IDD, and other clinical and diagnostic lessons.

Didactic training should be accompanied by experiential training where students interact with people with disabilities on different levels to gain insight into and appreciation of the lives of people with IDD. Standardized patient scenarios and real-life clinical experiences will help develop the skillsets needed to provide appropriate clinical assessments and medical treatments to people with IDD.

One of the challenges to teaching these skills is the limited number of currently available experts in this field to teach these courses. If every medical, nursing and allied health professional training program in the US wanted to employ clinicians with the expertise to teach this information in their schools, they would have a difficult time finding qualified clinicians to do so. Fortunately, with advances in eLearning courses, this type of information is more readily available than ever before. In a matter of days, a school could bring an IDD expert to their students through eLearning.

Practicing Clinicians

Society cannot wait until every school implements IDD training, all of their students graduate, and then replace every practicing clinician to attain a disability clinically competent workforce. Healthcare providers who have completed their training and are out in practice also must be trained to improve the availability of IDD competent healthcare providers. The challenges here are a bit different. Many clinicians are not aware of their own need to develop clinical competency in this area. It’s similar to the old saying, “we don’t know what we don’t know.” However, once they begin to gain some insight into this world, it becomes clear that additional information and skills about IDD healthcare would be of great benefit to all patients in their practices with vulnerabilities including people who are aging, those with dementia, people with traumatic brain injury and others. But how do we get this information to practicing clinicians who are busy with, well, practicing?

To do this, the information must be concise, practical, and afford an opportunity to fulfill continuing medical and nursing education requirements. Adding “teeth” in the form of this type of training being required by their professional accreditation academies or state licensing boards would also provide incentives. Again, one of the best ways to deliver this type of training is through online eLearning courses. They are efficient and can be done on the clinicians’ own time and at their own pace.

In recent years, there has been an increase in focus being placed by different organizations to increase clinical competency among healthcare providers. The American Academy of Developmental Medicine and Dentistry (AADMD.org) has fostered the National Curriculum Initiative in Developmental Medicine which has cultivated the implementation of varying degrees of training in over 20 medical schools. The Developmental Disabilities Nurse Association (DDNA.org) credentials nurses to provide healthcare for people with IDD. The Institute for Exceptional Care (ie-care.org) is working to improve access to competent healthcare for people with IDD addressing both educational as well as the payor components needed to achieve this goal. IntellectAbility (ReplacingRisk.com) is a company that focuses on health risk identification and prevention as well as training of all levels of supporters and has eLearn courses specifically geared to teaching physicians and nurses about IDD healthcare. One particular course, the Curriculum in IDD Healthcare, is used in medical and nurse practitioner schools as well as by practicing clinicians and has demonstrated efficacy in improving clinical confidence in IDD healthcare for both students and practicing clinicians.

Non-clinician supporters

What can non-clinicians do to improve IDD clinical competency? Here are a few thoughts:  Educate healthcare providers about organizations and options to receive IDD clinical training. Work with medical licensure boards and specialty organizations to encourage or require IDD clinical training. Encourage and support health professional schools to incorporate IDD training into their curricula. And reach out to payors to encourage them to work to adjust payments to help foster better healthcare provision for people with disabilities.

With the increase in interest in this area and continued movement toward improving training opportunities for students and practicing clinicians, we will come to a place where anyone with any level of disability will be able to present to any clinician’s office or hospital and receive a basic level of compassionate and competent healthcare. Let’s work to make this sooner rather than later.


About the author:

Dr. Craig Escudé is a board-certified Fellow of the American Academy of Family Physicians and the American Academy of Developmental Medicine and is the President of IntellectAbility. He has more than 20 years of clinical experience providing medical care for people with IDD and complex medical and mental health conditions serving as medical director of Hudspeth Regional Center in Mississippi for most of that time. While there, he founded DETECT, the Developmental Evaluation, Training, and Educational Consultative Team of Mississippi. He is the author of “Clinical Pearls in IDD Healthcare” and developer of the “Curriculum in IDD Healthcare”, an eLearning course used to train clinicians on the fundamentals of healthcare for people with IDD.