Abstract
Autism is a developmental disability that provides special challenges to families, schools, and adult support systems. An additional area that is affected by the symptoms of autism is medicine. The deficits associated with autism in the areas of communication and social skills, as well as the prevalence of challenging behavior can interfere with the diagnosis of illnesses and in some cases result in the provision of erroneous treatment. In this article, the authors present two case studies describing individuals with autism whose catastrophic illnesses were misdiagnosed due, at least partially, to their autism. Obstacles to medical diagnosis and treatment are discussed, and recommendations for future research are provided.
Keywords
As individuals with autism grow older, they face many of the same health risks as the general population (Mouridsen, Bonnum-Hansen, Rich, & Isager, 2008). Moreover, although individuals with autism have elevated mortality rates across a wide range of categories, their life expectancy has been found to approach that of the general population. Shavelle and Strauss (1998) found that 5-year-old children with autism have a life expectancy of approximately 72 additional years as compared with the United States population average of 76 additional years for typically developing children of the same age. Individuals with autism should not suffer inferior medical outcomes as they age due to a lack of understanding or consideration of their condition.
There have been numerous studies on the affect of mental illness on general medical care. For example, mental illness has been associated with lower rates of treatment for a number of conditions, including diabetes, hypertension, hyperlipidemia, hearing loss, and uncorrected vision (Kilbourne, Welsh, McCarthy, Post, & Blow, 2008; Nasrallah et al., 2006; Newcomer & Hennekens, 2007; Wilson & Haire, 1990). Lennox and Kerr (1997) outlined a wide range of possible causes for failures in medical care. Relevant factors include the knowledge and attitude of the physicians concerning the mental illness, the ability of patients to communicate their complaints, the existence of problematic behaviors in the patient, and the patient’s access to health care.
Researchers also have considered the specific relationship between autism and general health care with the majority of the work focusing on children and adolescents. Goldson and Bauman (2007) described medical health issues common in individuals with autism, including hearing loss, issues with sleep, gastrointestinal disorders, and seizures. Buie et al. (2010) provided a detailed review of obstacles in diagnosing and treating gastrointestinal disorders in individuals with autism spectrum disorder (ASD).
We hope the case studies provided within this article motivate additional research on medical care in adult individuals with autism. The two case studies presented within the article involve adults with autism who, after years of relatively stable levels of impairment, began to show a marked decrease in functioning. The first study involves an individual eventually diagnosed with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. The second case involves an individual diagnosed with multiple sclerosis (MS). Each case illustrates the onset and course of a medical disease that for months was treated symptomatically, without diagnosis, and with interim assumptions that the deterioration was at least in part psychological.
Dana
Dana was a 54-year-old man with diagnoses of autism and severe intellectual disability. Dana progressed from being a healthy middle-aged man to a man who lost all motor abilities to death within a year. A diagnosis of ALS was not made until 3 weeks before his death. Difficulties in diagnosing his disorder were exacerbated by Dana’s autism, lack of expressive speech, and history of occasional bouts of oppositional behavior.
Symptoms of Autism
Dana met the criteria for autism as delineated in the Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; DSM-IV-TR; American Psychiatric Association, 2000). His symptoms of autism were present since early childhood.
Impairment in social interaction
Dana evidenced no ability to establish and maintain relationships on his own initiative. His relationships were limited to caregivers or people who took the initiative in interacting and socializing with him. His interactions were devoid of eye contact. His body language was not conventional, and he often oriented his body at an angle to the person who was attempting to interact with him, rather than face-to-face. He lacked gestures and facial expressions that typically regulate social interaction. Often his affect appeared flat, even when with people he seemed to prefer.
Qualitative impairment in communication
Dana had no spoken language. This lack of spoken language was in contrast to relatively well-developed visual motor skills, indicating that language impairment was not a function of across-the-board cognitive deficits. Indeed, at his supported-employment job, he could perform visual motor tasks at the same rate as his coworkers without disabilities. Although he did not express himself verbally, Dana had good receptive language. He could follow one- and two-step directions, and once familiar with work and domestic tasks, he could perform those tasks with minimal prompting.
Stereotyped patterns of behavior
Dana demonstrated motor stereotypies, including rocking and occasional hand flapping. He insisted on sameness and routine, and an inability to carry out his routines was met with obvious distress on Dana’s part.
Dana had occasional behavior problems that are associated with autism. On rare occasions, Dana would scream, bite his wrist, and become aggressive. His aggression involved hitting. These problems generally occurred in response to changes in routine, especially if those changes resulted in Dana not having access to regularly scheduled, preferred items and activities.
Physical Functioning
Prior to the onset of illness, Dana was 69 inches tall and weighed 185 pounds. He had normal gait and posture, and adequate strength to complete activities of daily living (ADLs) and work tasks, which included light lifting. Manual dexterity was good and enabled him to complete manufacturing tasks at his job. He engaged in a regular exercise routine that included daily, 50-min walks and time on an exercise bike. Dana enjoyed a normal diet, and prior to the onset of illness, a nutritionist had recommended a slow weight-loss regime due to the fact that Dana was overweight.
ADLs
Prior to the onset of illness, Dana lived at home with the assistance of a caregiver. Assistance was based primarily on his autism and severe intellectual disability. Dana held a job in a manufacturing firm with the assistance of a job coach. Dana was able to dress himself, feed himself, and take care of his personal hygiene without assistance. He was able to do some domestic activities such as making his lunch, light cleaning, and laundry independently. For more complex tasks, such as making dinner, he required some assistance from his caregiver. Dana was not able to manage his money, and he had only minimal understanding of the value of money. He needed assistance with shopping and ordering in restaurants. He also needed supervision and assistance with travel throughout the community. Dana was not able to make medical appointments for himself or manage his own medication. He relied on the assistance of caregivers to arrange and carry out these activities. Similarly, Dana relied on the assistance of caregivers to arrange leisure and recreational activities and to accompany him on those activities.
Onset and Course of Symptoms and Treatments
Eight months prior to the noted onset of symptoms, Dana had a complete physical examination and was found to be in good health by his primary care physician. Approximately 8 months later, Dana began to have noticeable difficulty in walking, evidenced by dragging of his leg. An X ray of the foot was taken with no fracture evident, although atrophy of the thigh muscles was noted. He was treated by his primary care physician with a cortisone shot in the knee, which had little effect. Two months later, he was seen by an orthopedic surgeon for a possible knee problem. The orthopedist provided a diagnosis of arthritis and prescribed physical therapy to include stretching on a daily basis and “knee sleeve when ambulatory.” Dana’s condition continued to deteriorate to the point that he stopped walking. His caregiver provided him with a wheelchair. Two months after his first orthopedic visit, he returned to the orthopedist, who performed an arthroscopic medial meniscectomy the following month.
Following the surgery, he was placed in a nursing home to recover. Despite physical therapy in the nursing home, Dana did not regain the ability to walk. Attempts by the physical therapist to get him to sit or stand up were met with screaming. It was noted that he would not even stand with the assistance of two people. The physical therapist noted that Dana was unable to raise his right arm. Magnetic resonance imaging (MRI) testing was done on his right arm, which showed tendinitis. He was treated with cortisone injection.
Over the next 3 months, Dana continued to lose upper body strength. At that point, Dana was not walking, had upper body weakness, and needed assistance with his ADLs. One physician suggested that he was unwilling to perform these tasks. It was suggested that he had become used to nursing home staff doing these tasks for him and was now unwilling to perform them at his previous level of independence. A consulting neurologist diagnosed axonal neuropathy based on electromyography (EMG). The neurologist noted that “the prognosis is poor since he is not really amenable to physical therapy because of his autism.”
Dana continued to lose upper body strength. A neurological examination noted muscle weakness and muscle atrophy. The next month he was admitted to the hospital for an evaluation of progressive weakness. By that point, active movement was no longer discernible. He was given a battery of tests, including nerve conduction tests.
Nine months after initially noting that Dana dragged his foot, he was given a tentative diagnosis of ALS. A neurological disease, ALS, is characterized by progressive muscle weakness, muscle cramps, difficulty in swallowing and breathing, and paralysis. Ten months after the initial onset, Dana was diagnosed definitively with ALS, and 3 weeks later he died.
Shannon
Shannon is a 27-year-old woman with diagnoses of autistic disorder, mood disorder–not otherwise specified, severe intellectual disability, scoliosis, a degenerative disc disease, a seizure disorder, and hypothyroidism. Over the course of 3 years, Shannon progressed from being a healthy young woman to being wheelchair bound and incontinent before a correct diagnosis was made. Prior to a final diagnosis of MS, Shannon was treated with a myriad of psychotropic drugs, several psychiatric hospitalizations, and electroconvulsive therapy (ECT). ECT is a procedure in which electric currents are passed through the brain, deliberately triggering a brief seizure. ECT is most often recommended for use as a treatment for severe depression that has not responded to other treatment, and in the treatment of mania and catatonia. Difficulties in diagnosing her disease were complicated by Shannon’s autism, lack of expressive speech, occasional problematic behaviors present before the onset of disease, and persistent oppositional behavior.
Symptoms of Autism
Shannon met the criteria for autism as delineated in the DSM-IV-TR. Her symptoms of autism had been present since early childhood.
Impairment in social interaction
Shannon evidenced no ability to establish and maintain relationships on her own initiative. Her relationships were limited to caregivers, immediate family members, or people who took the initiative in interacting and socializing with her. Her interactions were devoid of eye contact. She lacked the gestures and facial expressions that typically regulate social interaction.
Qualitative impairment in communication
Shannon had no spoken language; however, at times she would engage in repetitive one-word vocalizations, such as “No.” This lack of spoken language was in contrast to relatively well-developed receptive language skills. She could follow one- and two-step directions, and once familiar with work and domestic tasks, she could perform those tasks with moderate prompting.
Stereotyped patterns of behavior
Shannon demonstrated motor stereotypies, including bouncing, vigorous rocking, and hand flapping. She was resistant to interacting with new people in her environment. Shannon often became oppositional when having to deal with new caregivers or visitors with whom she was not familiar. She also was routine bound.
On occasions, Shannon would engage in challenging behaviors associated with her autism. These challenging behaviors included aggression and yelling. Aggression consisted of grabbing, hitting, and pinching caregivers or pulling caregiver’s hair. On rare occasions, Shannon would scream. Screaming often included yelling single words, such as “OK,” “Done,” “Sorry,” or “All right.” These problem behaviors generally occurred in response to changes in routine, being in loud or crowded environments, or presentation of tasks or nonpreferred activities.
Physical Functioning
Prior to the onset of the illness, Shannon was 64 inches tall and weighed 122 pounds. Five years prior to the onset of illness, Shannon underwent spinal fusion surgery, with Harrington rods being inserted due to complications of scoliosis and degenerative disc disease. She had normal gait but walked slowly with her shoulder bent slightly forward. She possessed adequate strength to complete ADLs and light-work tasks. Her manual dexterity was good and enabled her to complete simple food preparation and household tasks with verbal instructions from caregivers. Shannon enjoyed a normal diet prior to the onset of illness.
ADLs
Prior to the onset of illness, Shannon lived at home with the assistance of a caregiver. Assistance was based primarily on her autism and severe intellectual disability. Shannon was able to dress herself but required assistance to dress according to the weather. She was able to feed herself. She did require some assistance with hygiene, such as physical assistance to brush her teeth well. She was able to do some domestic activities, such as making her lunch, light cleaning, and laundry with moderate prompting and close supervision. For more complex tasks, such as making dinner, she required more assistance from her caregiver. Shannon was not able to manage her money due to her complete lack of understanding of the value of money. She needed complete assistance with shopping and ordering for herself in restaurants. She also needed supervision and assistance with travel throughout the community. Shannon was not able to make medical appointments for herself or manage her own medication. She relied on the assistance of caregivers to arrange and carry out these activities. Similarly, Shannon relied on the assistance of caregivers to arrange leisure and recreational activities, and to accompany her on those activities.
Onset and Course of Symptoms and Treatments
Three months prior to the noted onset of symptoms, Shannon had a complete physical examination and was found to be in good health by her primary care physician. One month prior to the onset of symptoms, her psychiatrist did a psychiatric evaluation for Shannon. He noted Shannon’s psychiatric stability and documented considering a reduction in psychotropic medication due to her long period of stability. Soon after, Shannon demonstrated an increase in frequency and duration of screaming (previously, an infrequent and short behavior). At that time, Shannon was seen by her primary care physician and referred for an endocrine evaluation. Her psychiatrist prescribed a new psychotropic medication to address the sudden increase in screaming. Approximately 10 months later, an MRI indicated normal imaging of the brain and no pituitary gland abnormalities. The next month, another psychiatrist evaluated Shannon for a second opinion.
Shannon began to deteriorate physically as well as behaviorally. In addition to an increase in screaming, aggression, and oppositional behavior, especially during grooming and hygiene, Shannon was having trouble sleeping and was not eating well. Shannon also began to lose strength and flexibility, and to suffer physical pain. No medical diagnosis was provided to account for the latter symptoms, and physicians focused on psychiatric cause.
Thirteen months after the onset of symptoms, Shannon was admitted by her psychiatrist for a psychiatric hospitalization due to increases in agitation and insomnia. At the time of admission, Shannon was hitting and pinching caregivers, turning over tables, and banging on walls and chairs. During the hospitalization, she was seen by a neurologist who declined to run tests due to Shannon’s “poor cooperation,” which would require “significant amount of sedation to perform any tests.” Shannon was discharged after 16 days with no significant stabilization in behavioral presentation.
Following the hospitalization, additional psychological services were provided to allow for more intensive follow-up of behavioral treatment integrity and staff support. Based on frequent behavioral observations and follow-up, it became apparent that Shannon’s aggression and screaming were not responding to behavioral contingencies, further suggesting a possible underlying medical condition. As a result, the psychologist recommended that Shannon should have gastrointestinal, neurological, and gynecological evaluations by specialists. During the next 4 months, medical specialists conducted hormonal, urological, and gastrointestinal evaluations. The results of all the tests were negative. A number of medical professionals hypothesized that Shannon’s problems were psychiatric or behavioral in etiology. Throughout this time, Shannon continued to decline physically. She developed sores from lying in one spot too long, and her legs and feet were swollen.
Five months later, Shannon was seen by a psychologist at a renowned outpatient neurobehavioral program for evaluation for behavioral services. Based on the results of the assessment, the psychologist diagnosed Shannon with major depressive disorder and recommended medication adjustments. The psychologist made the diagnosis based on the following: Shannon’s irritable mood, her loss of interest in previously enjoyed activities, significant weight loss, and psychomotor agitation.
Twenty-two months after the onset of symptoms, Shannon was admitted for another psychiatric hospitalization due to irritability, agitation, and insomnia. The treating psychiatrist conducted ECT. After the fourth ECT treatment, Shannon had two grand-mal seizures. ECT was suspended, and Shannon was transferred to a medical unit. On being cleared medically, Shannon was returned to the psychiatric unit for further care. In the psychiatric unit, ECT treatment resumed for an additional six treatments.
Shannon was discharged after 2 months. At the conclusion of her psychiatric treatment, Shannon used diapers due to incontinence, weighed 98 pounds, had a chipped front tooth, and slept up to 16 hr a day. She demonstrated an increase in screaming, aggression, and oppositional behavior, especially during grooming and hygiene. In addition to behavioral deterioration, Shannon had undergone a marked physical deterioration. With intensive services from a dietician, Shannon regained some of her weight and reached 114 pounds. However, she experienced loss of strength, loss of flexibility, and apparent pain. She would scream “Ouch” or “Hurt.” She began walking with a shuffle and required assistance to walk up and down stairs. Her hands contracted, and she required staff assistance to eat and drink due to loss of fine-motor control and inability to pick up objects. She also had bladder problems, including demands to go to the bathroom, then not voiding or standing up, and walking away in midstream.
Thirty-two months after the initial onset of symptoms, Shannon was again seen for a second opinion in neurology and gynecology. Shannon had a computerized tomography (CT) scan and MRI, under sedation. Based on the results of the scans, Shannon was diagnosed with transverse myelitis, a neurological disorder. It can include pain, muscle weakness, and bladder or bowel problems, including increased urinary urge, loss of bladder control, difficulty in urinating, and constipation. As a result, Shannon was prescribed Tylenol for pain, physical therapy, and occupational therapy.
Thirty-six months after the initial onset of symptoms, Shannon continued experiencing weakness in her lower limbs. Weakness progressed until she was unable to walk and required the use of a wheelchair, and was incontinent of urine. Shannon was admitted to a regional hospital for medical evaluation. Neurological testing (MRI under sedation) demonstrated cervical spinal lesions indicating MS. Following this diagnosis, which was made 10 days after admission, Shannon was transferred to an interim rehabilitation facility for intensive physical and occupational therapy. However, the physical and occupational specialist was unable to conduct assessments due to Shannon’s oppositional behavior. Despite the diagnoses of transverse myelitis and MS, medical personnel continued to assume that her screaming was behaviorally based. Shannon was moved to a nursing home, where she remains wheelchair bound and incontinent, and receives supportive care.
Discussion
The cases of Dana and Shannon provide tragic examples of the types of barriers adults with autism face in receiving timely and appropriate medical care. Dana and Shannon underwent months of painful and inappropriate treatments, while major diagnostic clues were confused with the symptoms of autism and failed to result in timely diagnoses. These cases highlight several key areas that serve as obstacles to medical diagnosis and treatment in patients with autism.
Doctor–patient communication has been identified as a key factor in positive outcomes for a wide range of illnesses (e.g., Ong, de Haes, Hoos, & Lammes, 1995; Stewart, 1995). However, because individuals with autism often have deficits in speech production and comprehension, communication is often impaired. Deficits begin in childhood, with about 40% of children with an ASD unable to talk at all (Johnson, 2004). Limitations continue into adulthood, when individuals with autism experience a wide range of language deficits relative to the general population (Tager-Flusberg, Paul, & Lord, 2005). These deficits reduce the information available to doctors in diagnosing patients and in assessing the effectiveness of the resulting treatment. Dana and Shannon were without functional speech, depriving doctors of firsthand descriptions of symptoms.
A secondary aspect of doctor–patient communication is the ability of doctor and patient to establish rapport with each other. Dana and Shannon were compromised in their ability to establish relationships with others. They lacked the social skills necessary to enter a doctor’s office and engage in social discourse with the doctor. Instead, they would enter a doctor’s office, avoid eye contact, engage in motor stereotypy, and on occasion engage in behavioral problems such as screaming or self-biting. As the doctor and his or her office was novel, both of these patients with autism would become agitated and unable to respond to directions from the doctor that would assist in the diagnostic process. On several occasions, Shannon’s doctor visits and diagnostic procedures were cut short because of Shannon’s screaming as well as physical attacks on medical personnel, including pinching and kicking. In sum, neither Dana nor Shannon was socially able to become a collaborative part of the diagnostic process in the same manner that a patient without autism would.
Due to limited verbal ability, challenging behaviors (screaming, crying, tantrums, etc.) may in some cases be the only demonstrable symptom of an underlying disorder in children and adults with autism (Buie et al., 2010; Goldson & Bauman, 2007). Dana and Shannon demonstrated an increase in problematic behaviors throughout the course of their illnesses; however, the significance of the role that challenging behaviors played was obscured by their autism. Medical personnel assumed that screaming, self-injury, and oppositional behavior were due to the autism alone or concomitant psychiatric diagnoses. In both cases, these behaviors actually were symptoms of the underlying medical disorder but were overlooked as they are also associated with autism and had been present historically in both patients.
However, health practitioners often failed to connect these behaviors to the patients’ deteriorating underlying physical condition. For a relatively stable condition such as autism (Stein et al., 2001), care should be taken in interpreting a marked decline in cognitive or behavioral functioning as a result of mental illness. For example, within the community programs from which these case studies were drawn, all instances where individuals faced extended periods of decline in functioning were in the end attributable to an underlying medical cause.
Although challenging behaviors can act as an indicator of an underlying illness, in practice they often impede treatment and diagnosis. These behaviors may occur concomitantly with disease progression and thus mask physical problems. In addition, doctors may be hesitant to carry out invasive or restrictive procedures due to concerns about patient compliance. As Shannon’s case brings to light, cooperation can at times be difficult to obtain. The lack of cooperation may lead medical professionals to place a heavier reliance on screening overt symptoms that themselves may be obscured by symptoms of autism. Unwillingness to perform invasive and difficult-to-administer tests may leave adults with autism at a higher risk of misdiagnosis.
An additional barrier exists in that health care professionals often lack information on the nature of autism and behaviors associated with autism. This lack of education and experience may contribute to health care professionals mistakenly assuming that symptoms that would typically signal a medical disorder for an individual without a developmental disability were merely a behavioral anomaly instead of a bona fide symptom of an underlying medical problem. Dana provides a clear example of this problem, as his loss of ability to care for himself was attributed to his autism rather than to what was eventually diagnosed as a progressive neurological disorder.
The common theme emerging from both case studies is that symptoms were overlooked and misread, which lead to delays in medical diagnoses. Delays in both cases resulted in incorrect treatments, ranging from unnecessary cortisone shots to unneeded to surgery to the use of ECT. Palliative and curative treatments that might have been available to these two individuals were delayed or not provided. It is ironic that despite receiving services from nurses, physical therapists, recreation therapists, primary care physicians, psychologists, psychiatrists, orthopedics, and neurologists, Dana and Shannon had major medical deteriorations that were masked by their autism. These cases suggest that autism presents yet another challenge to individuals who have it and their families: not receiving timely and accurate medical diagnoses and treatment that are not masked by the potential filters of autism. The tremendous focus on education, family, and adult services for people with autism over the past 30 years must now extend to medical services.
We hope that the stories of Dana and Shannon serve to motivate heath practitioners to take care before attributing functional decline or other physical symptoms to a patient’s mental illness. These cases highlight the importance of educating health practitioners about special considerations when diagnosing and treating individuals with autism. The characteristics of autism, including deficits in communication, impairment in social interaction, stereotyped patterns of behavior, and challenging behaviors, can thwart timely diagnosis and the provision of medical care, as was the case with Shannon and Dana. The prevalence of autism is on the rise, and the medical needs of this population also will increase, not decline, in the years to come. Identifying methods to reduce these types of misdiagnoses is critical to develop a full lifetime approach to treating individuals with autism. Long-term considerations are important in autism as a large majority of individuals with autism continue to show impairment throughout adulthood (Seltzer et al., 2003). To improve long-term health care for individuals with autism, additional research is required to design tests that can reliably identify when declines in functioning or increases in problematic behaviors are indicative of an underlying physical illness.
Footnotes
Acknowledgements
The authors would like to acknowledge Ian Paregol and Susan Ingram for their support and Gina Chandler for her historical information.
Declaration of Conflicting Interests
The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding
The authors received no financial support for the research, authorship, and/or publication of this article.