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    Common or Commonly Missed Diagnoses for Patients with Developmental Disabilities

    Equity, Diversity, and Inclusion (EDI), Special Populations

    Last Updated May 25, 2020
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    By Esme Marquis, Julian Marsden, Yona Lunsky, Kent Loftsgard


    • There is a wide array of conditions more common in people with developmental disabilities (DD) and that should be kept in mind.
    • Patients with DD often present with an acute change in behaviour such as self-abuse or agitation as a manifestation of pain. Several common causes of pain in patients with DD are described below and should be screened for in these scenarios.
    • A person with a developmental disability can have all of the same conditions as a person without a disability.

    Communication Tips

    • Sensory hypersensitivity is common. Try to find a quiet room (i.e. isolation room, psych interview room), dim fluorescent lights, and turn off non-essential monitors.
    • Some patients may come with their own individual care plan or crisis plan, or with a communication tool such as a health passport.
    • Sit at the level of the patient rather than standing over them.
    • Address the patient directly whenever possible, even if they are non-verbal.
    • Go slow, adjust volume of your voice. Some patients with DD may respond poorly to loud voices, others may be hard of hearing and need you to speak up.
    • People with DD are frequently the victims of all forms of abuse. Remember to practice trauma informed care.
    • If the patient agrees, try to accommodate caregivers to be present during interviews and exams. They are useful for providing collateral information and as a source of comfort.
    • Encourage the use of comforters such as toys or music during exams and procedures.
    • Consider developing a kit of soothing/distracting objects (sunglasses, earphones, squishy balls, weighted blanket) that can be kept in your ED.
    • Be mindful of body language. Non-verbal patients can be especially sensitive to this.
    • Explain exams and procedures using the show-tell-do approach, i.e. show the stethoscope, and explain what you are going to do with it before proceeding.
    • Give ongoing encouragement for even small steps successfully completed.
    • Provide clear verbal discharge instructions and give written instructions for patients to take home, either for themselves or to share with any caregivers who are not present.

    Click here for a PDF version of these tips.

    Approach to Concerning Behaviour

    • When looking for the cause of challenging behaviours, remember to HELP.
      • First consider Health related causes such as pain.
      • Next consider Environmental triggers (the ED is an unfamiliar and often overstimulating environment that can contribute to these behaviours).
      • Then ask about Living circumstances (i.e. recent move or change in support staff).
      •  Consider Psychiatric causes only after other causes have been eliminated.
    • Stereotypy, repetitive movements or vocalizations colloquially known as stimming, are common among people on the autism spectrum. Traditionally, family and clinicians have interpreted these as inappropriate and have engaged in various methods to attempt to reduce them, however they are increasingly being seen as a self-regulatory mechanism that does not require treatment and allowing your patient to engage in stimming may help them to stay calm in the ED.

    Click here for a PDF version of this approach.

    Diagnoses to Consider


    • Dysphagia is common among people with DD which places them at risk of aspiration pneumonia.
    • Obstructive sleep apnea, Asthma, and COPD are all more common in people with DD than in the general population.


      • GERD is very common among patients with DD.
      • Volvulus, a surgical emergency, is more common in children with DD.


    • People with DD have increased occurrence of cardiovascular risk factors such as obesity and diabetes.
    • So far, research has not demonstrated any increase in rates of myocardial infarction, however it has suggested that patients with DD are likely to present atypically, and the diagnosis may often be missed.
    • Heart failure is more common among people with IDD than the general population.


    • Epilepsy has a higher prevalence among people with DD, 22% in one study.
    • Consider acute presentations related to specific cause of DD (i.e. hypercalcemia in Williams-Beuren Syndrome or shunt malfunction in hydrocephalus).
    • People with DD are at a significantly increased risk of physical and sexual abuse (never make the assumption that a person with DD isn’t sexually active). Changes in behaviour such as withdrawal or sexualized behaviour, malnutrition, and poor mental health can all be signs of abuse.
    • Addiction: Substance use disorders and particularly alcohol use disorder are common among people with DD.
    • Polypharmacy: Consider the effects of polypharmacy before prescribing new medications. Antipsychotics are over-prescribed to people with DD. In addition to numerous side effects, antipsychotics have also been identified as a major risk factor for myocardial infarction in patients with DD.

    Common Causes of Pain and Agitation

    • All Behaviour is Communication: if a patient with a developmental disability is displaying new or concerning behaviours, this may be an indication of pain.
    • Dental abscesses or impacted teeth: poor dental health and untreated caries are very common among people with DD and can be a source of significant pain that often leads to self-abuse.
    • Cerumen impaction: common and may cause pain and reversible hearing loss.
    • Fractures: Osteoporosis and low trauma fractures are more common in patients with developmental disabilities. Maintain a lower threshold to consider fracture and order appropriate imaging.
    • Patients with developmental disabilities often also possess physical disabilities which can put them at risk of developing pressure sores and ulcers.
    • Constipation: may occur in as many as 69% of people with DD, and can be a significant source of pain and distress.

    Quality Of Evidence?


    Health needs of patients with Developmental Disabilities are well understood from a primary care perspective (see 2018 Canadian Family Practice Guidelines), however less research has been done in the setting of the emergency department.


    Related Information


    Reference List

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