"Craig" showed core symptoms of autism spectrum disorder, including social impairment (i.e., lack of interest in peers, nonverbal communication limits, deficits related to sharing/directing attention), an atypical communication trajectory (i.e., early language delay, stereotyped language including echolalia), and repetitive play and restricted interests (i.e., lining up toys, collecting atypical objects, distress surrounding idiosyncratic changes in his environment). These symptoms were prominent around 18 months with concerns raised in his preschool classroom at age 2. Craig was referred for an evaluation and was initially diagnosed with a speech and language delay before receiving a provisional diagnosis of an autism spectrum disorder (pervasive developmental disorder not otherwise specified) at age 3. Subsequent evaluation at age 5 resulted in a formal diagnosis of autistic disorder.
In the school setting, Craig was identified for special education in kindergarten. Testing showed cognitive abilities at the lower limits of the average range with relative weaknesses regarding complex verbal reasoning. At age 12 Craig was evaluated for symptoms of hyperactivity and inattention, tics, and ongoing difficulties with inflexibility and repetitive speech and behavior. His parents described Craig having difficulties with anxiety and observed that complaints of unhappiness also emerged around the time. He was diagnosed with Tourette's syndrome on the basis of both vocal and motor tics. A trial of risperidone helped significantly with his tics and some of his repetitive behavior. A methylphenidate trial seemed to help with his hyperactivity and inattention, and methylphenidate was therefore continued until he completed his formal schooling at 20 years old, after which point on-off-on trials revealed no continued benefit. He was also treated by a psychotherapist for anxiety and compulsivity. He had difficulty engaging in cognitive-behavioral therapy (CBT) approaches. Psychotherapy came to focus on managing anxiety through coping strategies, which consisted primarily of relaxation exercises and family support.
Beginning at age 12, Craig expressed pervasive concerns about one aspect of his identity or another. Initially, these concerns were about his diagnosis. He would complain repeatedly that he did not want to have autism and would ask repeatedly if his doctor could cure it. He later expressed desires to have other disorders, including Down's syndrome, so that he could look like the other children in his special education program. By age 13, he began demanding to be called by different names by those around him. He remarked that his various names "did not feel right" with some people or in some situations. This began with selected iterations of his own name (full name, nickname, and so on) but expanded over time to include female names as well as nonsensical names.
At age 15, Craig was preoccupied with his physical appearance and complained that he looked too old. This preoccupation appeared to coincide with the development of significant acne, which resolved after treatment but without relief of the preoccupation. He began to express a belief that he was too tall, weighed too much, or looked too old, despite being of average appearance, height, and build. At age 18, he was unable to talk about anything other than his height or weight during his medical visits, with a constant demand for reassurance that he did not look "too old." At times he became so upset when talking about his appearance or his height that he stated, "I wish I was in heaven." When immediate verbal reassurance was not satisfying, he would try to demonstrate that he was not tall. For example, when someone at church commented that he was a "nice young man," he spent the next 15 minutes jumping up to show that he could not touch the ceiling, which he said demonstrated that he was not "a man" but remained a boy. This preoccupation interfered significantly with his functioning in school and social settings. Reference to his age or height would invariably result in intense distress and dysregulation during which Craig would often express his anger and demand that those who made the comments retract them and provide significant reassurance that he was young and developmentally disabled. At age 22, his ongoing obsession with his appearance almost caused him to lose his job when he erupted in an angry tirade after a coworker called him a "nice young man."
Exposure and response-prevention therapy was initiated, along with 125 mg of D-cycloserine 1 hour before each session to augment extinction learning (1). Over the course of four sessions, he was able to progress quickly through a stimulus hierarchy, including his height being recorded repeatedly, loudly being called by the "wrong" name (his given name), being called a "nice young man" repeatedly, and so forth. He showed a marked improvement in his preoccupation with his name, height, and appearance across multiple settings and was able to increase his hours at work.
Presentation at the Case Conference
Craig's preoccupation with his age and appearance no longer caused significant impairment. He continued to complain of significant "anxiety" on a daily basis, particularly in the late afternoon and evening when he was at home with his parents. He was unable to provide a complete description of the thoughts that accompanied this anxiety, but his mother noted that he would complain of "not knowing what to do" at that time of day. At the case conference, the possibility of depression was raised, with the reflection that his inability to find a desirable activity might indicate anhedonia. A current diagnosis of a major depressive episode could not be established. Over the course of questioning about active symptoms, however, his mother noted two previous episodes that suggested major depressive disorder, including worsened complaints of not knowing what to do, decreased energy, increased sleep, worsened concentration, and occasional tearfulness, each of which had lasted a month or more during his early teenage years.
Craig continued to receive psychotherapy in monthly sessions focused on releasing obsessive worries, but with little benefit. His aripiprazole dosage was increased to 20 mg daily. His mother noted spontaneous crying, worsened complaints of boredom and anxiety, increased sleep, decreased energy, and passive suicidal ideation. He was diagnosed with major depressive disorder and, because of previous side effects with serotonin reup-take inhibitors during adolescence, he was started on lamotrigine with a gradual titration from 25 mg/day to 100 mg/day. The behavioral activation approach was also reviewed with his family in some detail, including specific plans to increase structured activities. Over the course of 2 months, Craig showed significant improvement in all depressive symptoms, with only occasional complaints of not being sure what to do. With a further titration of his lamotrigine dosage up to 200 mg/day, he showed markedly decreased sleep, increased energy, and increased time spent disassembling and reassembling antique telephones, which he collected as a hobby. When Craig's daily dosage of lamotrigine was reduced back to 100 mg, these symptoms resolved with only a minor return of complaints of anxiety. Craig has been stable on this dosage for 12 months, and focal concerns about height, weight, and age have not been prominent for 21 months.
Dr. Veenstra-VanderWeele: Body Dysmorphic Disorder in Autism?
Before Craig was referred for psychotherapy, his most impairing problem was his preoccupation with being too tall or looking "old," which was diagnostically most consistent with comorbid body dysmorphic disorder. The diagnosis of body dysmorphic disorder was initially useful in that it offered options for treatment with some evidence base (2), as opposed to continued supportive psychotherapy approaches. Furthermore, Craig's body dysmorphic disorder symptoms appeared consistent with the typical syndrome. However, comorbid body dysmorphic disorder in autistic disorder had not previously been described in the literature.
The number of children, adolescents, and adults diagnosed with autism spectrum disorders has increased in recent years (3), and the largest increase has occurred for individuals who have a higher IQ and those with pervasive developmental disorder not otherwise specified (3, 4). In the past, these individuals may have been less likely to receive an autism spectrum disorder diagnosis and may instead have received other diagnoses, including obsessive-compulsive disorder (OCD) and related disorders. As patterns of autism spectrum disorder diagnosis evolve, it is important to remain cognizant of emerging patterns of previously unrecognized potential comorbidities.
Diagnosis of an autism spectrum disorder is based on three domains of symptoms—social impairment, restricted and repetitive behavior, and communication impairment. The complex repetitive or compulsive behaviors commonly seen in autism spectrum disorders are often seen as a link to OCD and related disorders (5, 6). Despite interest in this potential link, little attention has been paid in the autism spectrum disorder population to other comorbid disorders within the OCD spectrum. Our observations in this case suggest that one of these OCD spectrum disorders, body dysmorphic disorder, can occur in the context of an autism spectrum disorder (7, 8). Given the social deficits expected in autism, clinicians might assume that patients with autism would not have self-awareness or self- consciousness about their appearance. If persons with autism are not able to conceptualize the perspective of another person, as some have argued (9), it would not seem possible for them to become overly preoccupied with others' perceptions of their appearance.
However, both autism spectrum disorders and body dysmorphic disorder include repetitive, preoccupying thoughts or behaviors as central symptoms. Neuropsychological testing in each disorder reveals a tendency to focus on individual parts of a complex figure or pattern (10, 11). This failure to see the forest for the trees is often described as a defining feature of autism spectrum disorders (12) and is also central in body dysmorphic disorder, where exaggerated focus on one or more body features becomes all-consuming. Both disorders also include impairment in the social domain. A person with body dysmorphic disorder believes that others will view his or her appearance as flawed. Social phobia is a common comorbidity in body dysmorphic disorder (13). In autism spectrum disorders, where social dysfunction is universal, symptoms of social phobia are also common (14).
Dr. Warren: Psychological Treatment of Body Dysmorphic Disorder in Autism
In the absence of a definitive functional diagnostic structure that guides intervention, body dysmorphic disorder has been addressed with a number of psychotherapeutic modalities. While the efficacy of psychoanalytic intervention is unclear, a few intervention studies (both open and randomized controlled trials) support the effectiveness of CBT in treating body dysmorphic disorder (2, 15, 16). The functional components of this intervention typically include exposure and response prevention; addressing cognitive processes related to body dissatisfaction; and psychoeducation about the nature of the disorder. Concerns about being too tall or of too mature a build, as in the case of Craig, are not described in the literature as common foci of body distress. However, addressing Craig's body dissatisfaction was central in his care.
A course of systematic exposure and response prevention was used in conjunction with a trial of D-cycloserine. Craig was hesitant about pursuing exposure and response prevention but quite eager to try D-cycloserine. Like most patients presented with the rationale and framework of exposure and response prevention, he was concerned about actively approaching distressing triggers. However, with parental support as well as reassurance that he would never be asked to approach a level of distress that was too much to tolerate, Craig agreed to participate in a 4-week course of clinic-based exposure and response-prevention strategies. Three areas of focus were selected for intervention: reference to his name (selected because it was a mild trigger and therefore a likely successful entry point), reference to his height and other physical measurements, and reference to his age and growing up. Exposure hierarchies were created for each area, and Craig was able to progress through these hierarchies in a short time in the clinic setting. Creation of the hierarchies themselves and explication of the rationale of the intervention were particularly challenging given Craig's intense distress in even discussing triggers as well as his cognitive and autism spectrum disorder profile (i.e., low average IQ, limited metacognitive skills/ insight). Treatment with D-cycloserine seemed to help Craig approach a distress hierarchy, possibly both because of the therapeutic effect of the drug itself and because of Craig's belief that it would allow him to tolerate the discussion.
Another significant point of intervention was clarification with Craig's caregivers about the nature of his distress and his attempts to seek reassurance and relief from them, which often created more distress and increased his need to seek reassurance. A response-prevention strategy was outlined with his parents, including acknowledging and supporting his distress but not directly providing reassurance. Particular emphasis was placed on creating realistic systems of response prevention. Craig was not able to tolerate complete withholding of reassurance, but the reassurance could be effectively scheduled or delayed such that his distress or anxiety was largely dispelled before the reassurance was given.
As noted earlier, Craig showed a significant benefit from this limited intervention when it came to specific references to his name, height, and appearance; however, what was also quite clear from the start was that his distress was tied to a larger theme of coherent identity. The unavoidable psychodynamic interpretation was that these triggers were tied to conflicts about becoming an adult. The focus of his discomfort with adulthood became his physical appearance, but that only seemed a marker for the pressure and loss that accompanied finishing high school and facing an uncertain future. For a majority of his childhood and adolescence, Craig was often identified as a child with autism and was in turn granted special accommodations and support. This became Craig's predominant and preferred way of classifying himself, and he often used it in defense against the psychosocial reality of the end of school, difficulties finding a rewarding job, isolation from peers, and numerous functional limitations that might realistically be part of his future. In this position, Craig faced an extra challenge because he had a partial awareness of many of these realities but lacked the cognitive ability to fully hold on to and process these challenges. Thus, in the case of Craig, it appears that his autistic disorder and related vulnerabilities contributed to a specific presentation of body dysmorphic disorder superimposed on broader identity issues.
Dr. Sanders: Recognition of Depression in Autism
Although the risk of depression in autism spectrum disorders appears to be elevated (14, 17), the diagnosis can be difficult to establish because of limited self- report of mood and other cognitive symptoms (18). Craig was clearly facing potent interpersonal and psychosocial struggles that were painfully accompanied by an increasing awareness of these struggles. Comorbid depression can be difficult to distinguish from primary symptoms of an autism spectrum disorder. Typical symptoms can include decreased interest, boredom, increased aggression or irritability, decreased self-care, sleep problems, appetite changes, negative self-image, psychomotor retardation, somatic complaints, and regression (sometimes incontinence). Children and adolescents with an autism spectrum disorder may exhibit some of these symptoms in the absence of depression. Worsening of the core autism symptoms during a depressive episode is another complicating factor. It can be helpful to view the overlapping symptoms as both core symptoms of the autism spectrum disorder and symptoms of the comorbid depression. The new symptom cluster might include, for example, an increase in previous sleep problems or aggression and the new onset of decreased interest in previously preferred activities.
Children with an autism spectrum disorder often lack the skills to express their emotions and feelings with the same degree of insight into psychological processes that typically developing peers have. They routinely have problems discussing abstract subjects, such as guilt and meta-cognitive skills. Moreover, because no scales have been designed specifically to assess depression in the population with autism spectrum disorders, we must rely on outward signs and symptoms seen during examination and conveyed in the history provided by the caregiver.
Although there are challenges to making the diagnosis of depression in patients with autism spectrum disorders, for some individuals depression may represent a primary treatment focus within a complex psychiatric and neuro-developmental profile.
Craig improved symptomatically from incessant reassurance-seeking behaviors to repetitive but redirectable discussion of the specifics of antique telephones. With the initiation of lamotrigine, he regained the good sense of humor that was evident in wordplay from his early days in the clinic. He also successfully expanded his range of adult activities, including taking on additional hours at his first job placement and taking a second job placement on the weekends to earn money to put toward his hobby. As he has directed more of his attention outward, he has appeared to struggle less with his concerns about his name and appearance. At his most recent visit, he described "biting my tongue" when the nurse remarked on how tall he was.
The authors thank Susan McGrew, M.D., and Jeri Fitzpatrick, M.D., for particularly valuable comments during the case conference and in subsequent discussions; Eric Hollander, M.D., for helpful discussions of body dysmorphic disorder in the autism spectrum disorders population; and Autism Speaks for support of the Autism Treatment Network site and the corresponding multidisciplinary clinical case conference in the Vanderbilt Treatment and Research Institute for Autism Spectrum Disorders.