Obsessional and Atypical Tic Symptoms in an Adolescent with Complex Tourette's Disorder and Atypical Pervasive Developmental Disorder Not Otherwise Specified

Chief Complaint and Presenting Problem

L. is a 14-year-old boy who was referred for consultation to clarify the nature of complex psychiatric symptoms and for medication management. L. reportedly had a long history of tics, anxiety, learning problems, attention difficulties, and atypical development, including restricted interests, minimal peer relationships, and trouble understanding social rules beginning at age 8 years. L. had been previously diagnosed with Tourette's disorder (TD), pervasive developmental disorder-not otherwise specified (PDD-NOS), panic disorder, obsessive compulsive disorder (OCD), bipolar disorder NOS, learning disorder NOS, attention-deficit/hyperactivity disorder (ADHD), and juvenile rheumatoid arthritis.

History of Present Illness

Parents reported that L. developed the onset of tics at age 3 years. Motor tics have included eye blinking, lip licking, head turning, and hand shaking; vocal tics have included screaming, grunting, growling, and swallowing. Since that time, L. has exhibited a waxing and waning course of these motor (simple and complex) and vocal tics, as well as obsessions and compulsions. From age 4 to age 8 years, L. was followed by a local child and adolescent psychiatrist and treated with a variety of medications including haloperidol, clonidine, clonazepam and pimozide. He was treated with fluoxetine at age 8 years, but reportedly experienced a “trance-like” state. An electroencephalogram (EEG) at the time was normal.

“Mental tics,” consisting of elaborated obsessional mental phenomena accompanied by perceptual disturbances, (i.e., hallucinatory-like experiences), emerged at age 8 years. Initially these reportedly occurred in the context of an awake but nonresponsive state of arousal. During these periods, L. sang songs, recited cartoon dialogue, or verbalized material suggesting he was experiencing himself as being in a chase scenario (usually an army theme). A 24-hour sleep-deprived EEG was normal. Work-up to rule out Lyme disease, streptococcus infection, and systemic lupus erythematosus (SLE) was negative.

At age 8, L. was diagnosed with juvenile rheumatoid arthritis and started on azulfidine for joint pain and stiffness. Around that time he began to report seeing “ghosts,” transparent people, and aliens. These phenomena dramatically worsened by age 12 years and were not responsive to treatment with neuroleptics or serotonin reuptake inhibitors. The “mental tics” presented as elaborated visual, auditory, visceral, and tactile perceptual disturbances. L. described the visual phenomena as “shadow people,” a large crowd of gray-shaded or black, featureless, three-dimensional, ghost-like human figures. The figures consisted of men, women, and children who, over the course of time, aged, married, reproduced, and died. L. stated that they were a constant presence in his life but knew that they were not real. L. reported that the content of the scenes he witnessed was morbid; for example, the shadow people would commit suicide or murder one another. L. reported tactile experiences including feeling “the wetness of their blood spurting onto his arm” and the sensation of the shadow people flicking him with their fingers, punching him, and shoving him. L. reported that these experiences occurred whether he was alone or with others, although when he was alone, he felt he had more experiences that were “strange.” He stated, “I have tried different ways to get rid of them” but reported no success. L. further described that he experienced an entirely separate set of visual and auditory “hallucinations” that were not shadow-like consisting of animals, fire, and people committing suicide. Notably, L. had reportedly listened to vivid stories told by his grandfather, to whom he was very close, about his military combat experiences.

When L. was 12 years old, his parents transferred his care to a TD psychiatrist specialist. The specialist concluded that L.'s TD was complicated by anxiety (including panic episodes), mood dysregulation, and an atypical developmental profile. He added a mood stabilizer to the medication regimen and referred L. for further psychiatric consultation with an expert in schizophrenia. Consensus was reached that L. did not meet criteria for schizophrenia or another psychotic disorder, and that the “mental tics” were atypical hallucinations, and more likely OCD symptoms and anxiety superimposed on an atypical developmental profile. Moreover, there was no evidence of delirium in this case (i.e., these events almost always occurred with clear sensorium).

More recently, L. exhibited various repetitive behaviors including pacing, stomping his feet, and banging his hands on hard surfaces. He also reported racing thoughts, distractibility, difficulty initiating sleep, vivid nightmares, and déjà vu phenomena wherein upon awakening he felt that what he is seeing around him he has previously seen in a dream. L. reportedly experienced episodes of rage and suffered from depressed mood, excessive anxiety with panic attacks, and bouts of worsening obsessions and compulsions.

L. was evaluated in a second psychiatric consultation at age 14. During this evaluation, subtle dysmorphic features in the form of slight epicanthal folds were observed, and genetic consultation was recommended. Karyotype was found to be normal. A third work-up for seizure disorder was again negative.

Past Psychiatric History

There was no past psychiatric history other than described in the present illness. In addition to pharmacotherapy, at age 13 years L. began receiving supportive psychotherapy and social skills training at a university-based clinic specializing in TD.

Psychometric Testing

Intelligence testing at age 4 years documented WISC-III Verbal IQ 90, Performance IQ 66, and Full Scale IQ 75. Re-evaluation with the WISC-IV at age 14 years yielded Verbal and Performance IQs of 91 and 93, respectively, a Working Memory Index of 72, and a Processing Speed Index of 67, and Full Scale IQ 92. It was felt that the later cognitive testing was a better reflection of L.'s intellectual capacity, since concentration and emotional regulation had improved on the second battery.

Educational testing on Woodcock Johnson Tests of Achievement-III estimated reading and writing to be in the low average to average range with evidence of specific weaknesses in reading comprehension and concentration. Math skills were estimated to be in the impaired range. Spoken language skills were estimated to be in the average range overall. The impression was of a learning disability for mathematics.

Developmental History

L. was the third pregnancy but the first baby carried to term. Delivery was by emergency Caesarean section due to fetal distress caused by a nuchal cord. Apgar scores and birth weight were reportedly normal. Infancy was notable for colic and difficulty being soothed. Early development was notable for delays in the acquisition of early language for which L. received speech/language therapy.

Parents reported that L.'s play was notable for an absence of imaginative play early in life. However, there was no history of odd behavior such as lining up his toys, unusual attachment to objects or parts of toys, or playing with toys in a repetitive manner, and there was no early history of unusual or restricted interests. Early social relationships were described as age appropriate. During pre-school, L. formed relationships with his classmates, such that he saw them outside of school.

Educational History

L. completed kindergarten through grade 3 in public schools. During the fourth grade, his symptoms became increasingly debilitating, and he began home schooling, which continued off and on through grade 8.

Social History

L. lives with his biological parents and biological sister, age 12. Both of L.'s parents completed some college. L.'s sister receives special education services for dyslexia.

Parents report that L. maintained friendships until he was about age 9 years, when he became progressively more socially isolated in the context of worsening psychiatric symptoms. L. went on to exhibit narrow interests, chief among them his own mental experiences about which he maintains a blog, cooking, and science fiction.

L. spends most of his time at home but socializes with members of the extended family in their homes. L. has no sustained, reciprocal friendships outside of his relationships with the immediate and extended family.

There is no history of physical, emotional, or sexual abuse.

Family History

Family history is notable for dyslexia in the patient's younger sister and diabetes in his mother. A paternal cousin had depression and was treated with electroconvulsive therapy (ECT), and may have had psychotic symptoms as a young adult. Paternal great-uncle committed suicide. A maternal uncle has severe rheumatoid arthritis.

Medical History

L. was diagnosed with juvenile rheumatoid arthritis at age 8 years. L. was treated with azulfidine for 5 years, followed by rofecoxib for several months, and was subsequently switched to celecoxib until age 13. Current medication for arthritis for the past year is meloxicam 15 mg once a day and acetaminophen as needed for arthritis pain. Joint pain and stiffness were reported to be relatively well controlled. Parents and L. report no major adverse effects of these medications.

There is a history of mild acne, for which L. receives minocycline, and mild obesity.

Allergies are to penicillin, which results in urticaria.

Medication History

Over the course of illness L. was treated with various combinations of the following medications; haloperidol, clonidine, clonazepam, pimozide, fluoxetine, olanzapine, lorazepam, baclofen, mecamylamine, paroxetine, sertraline, alprazolam, atomoxetine, and risperidone (Table 1).

Current medications include atomoxetine 40 mg twice a day (bid), risperidone 2 mg bid, and clonazepam 1 mg three times a day (tid).

Mental Status Examination

L. was a slightly obese Caucasian male dressed in a black T-shirt and jeans with long hair and mild acne. He appeared to look his stated age and was generally cooperative throughout the examination. L. exhibited odd mannerisms and tics consisting of finger twitching, eye blinking, shoulder shrugging, throat clearing, and staring into the corner of the room as if looking at something moving. Mood was anxious, apprehensive, and uneasy at the outset but improved during the course of the interview. Affect varied and was constricted at times, intense at others, and almost absent at others. Facial expressiveness was diminished. Thought process was concrete, circumstantial, and coherent. L. reported his perception of “visions” of people engaged in military combat and ghosts flying around the room. Sensorium was clear and L. was oriented in three spheres; intelligence was estimated to be below average. Concentration was deemed fair, while judgment and insight were deemed poor.

Course of Treatment

Medications at the time of L.'s presentation at age 11 included atomoxetine, risperidone, and clonazepam. The subsequent course of pharmacotherapy over the ensuing three years (until age 14 years) is summarized in Table 1. Changes in his medication regimen include (1) initiation of oxcarbamazepine to stabilize mood and reduce irritability with good results; (2) discontinuation of short-acting alprazolam and its replacement with clonazepam to control anxiety symptoms; (3) tapering of risperidone and its replacement with aripiprazole to control “mental tics” and motor tics that appeared resistant to risperidone with some initial improvement in symptoms; (4) increase of aripiprazole to control panic episodes and transient worsening of “mental tics”; (5) increase of oxcarbamazepine to control mood and anxiety symptoms with improvement in symptoms; (6) elimination of atomoxetine due to apparent lack of efficacy; (7) cross titration from citalopram to escitalopram to enhance effectiveness of the selective serotonin reuptake inhibitor (SSRI); (8) discontinuation of oxcarbamazepine and replacement with divalproex and reduction of clonazepam in response to patient requests to lower medication; and (9) repeated adjustments of medications to reduce waxing and waning symptoms.

Of significance was a pattern of temporary symptom remission followed by exacerbation whenever the medication regimen was changed. “Rational polypharmacy” was employed (i.e., combination treatment with neuroleptic, mood stabilizer, anxiolytic, and antidepressant medications) but the patient's symptoms were difficult to control.

Since age 13 years L. has also been treated by a clinical psychologist. The psychologist observed that L. has made improvements in his ability to cope with his illness, and that tic frequency and intensity during sessions have declined. L. also began to develop a growing awareness of the limitations of his illness.

Brief Formulation

In summary, L. is a 14-year old adolescent boy referred with a history of TD, obsessional phenomena, atypical visual preoccupations, anxiety and mood symptoms, nonverbal learning disability and features suggestive of a later onset, and thus atypical, PDD-NOS. L.'s report of visual perceptual phenomena are unusual and do not appear to be psychotic in nature or secondary to seizures. Rather, they appear to be mental phenomena (somatic obsessions and perceptual disturbances) of visually vivid content derived from preoccupations with stories heard from his grandfather. The sensory prominence of these obsessive phenomena has led L. to spend considerable time engaged in imaginary combat scenarios. Given his lack of age appropriate peer relationships, L. turns to fantasy and rumination, particularly when stressed, and in this respect, these phenomena appear to serve the function of mitigating his anxiety.

Another important aspect of L.'s clinical presentation is the atypical onset of symptoms consistent with PDD-NOS. While he is reported to have had normal social relationships until the age of 8 years, it is apparent that he is now showing signs of atypical behavior with poor social relationships, trouble understanding social cues, social isolation, and restricted interests as well as obsessive preoccupations. It is possible that the severity of his TD superimposed upon his learning difficulties have produced a clinical picture most consistent with PDD-NOS but atypical for later onset.

Additionally, the presence of juvenile rheumatoid arthritis early in L.'s life suggests the possibility of an immune-related etiology or contribution to his neuropsychiatric symptoms. These hypotheses are further substantiated by the poor response L. has had to standard treatments for complex tics, OCD, and mood/anxiety symptoms. Medical history is also significant for mild obesity and allergies.

Family history suggests a diathesis for major affective disorder, possible psychosis, rheumatoid arthritis, and learning disorders.

L. has several strengths, including a willingness to comply with treatment, access to quality health care, and strong support of his extended family.

Multi-Axial Diagnoses

Discussion

This case represents rather vividly some of the challenges in the evaluation and treatment of children with longstanding neuropsychiatric disorders, whose symptoms and clinical presentations do not fit neatly into our diagnostic nomenclature and wax and wane over time. L.'s picture might be best understood as a chronic fluctuation in several symptom domains over time, in the context of underlying developmental problems. To add to the complexity, one must not neglect the potential impact of psychiatric symptoms in the context of childhood onset juvenile rheumatoid arthritis and the medications used to treat the arthritis.

Since L. is reportedly aware that the visual and tactile perceptual phenomena are not real, it does not appear that we can interpret them as classical hallucinations. In fact, obsessions may at times take on delusional qualities, as can monosymptomatic psychoses, such as monosymptomatic hypochondriacal psychosis (Koo & Gambla 1996).

Given the approximate temporal correlation with onset of the visual and perceptual symptoms at age 8 years and the diagnosis of juvenile rheumatoid arthritis, one might consider the possibility of exacerbation of neuropsychiatric symptoms in association with this disabling disorder. Reports of increased rates of mood and anxiety disorders in youth with juvenile rheumatoid arthritis suggest that both the inflammatory changes in the central nervous system as a result of the autoimmune disorder and/or response to a chronic and disabling illness could be contributing factors (Mullick et al. 2005; Billings et al. 1987; David et al. 1994; McAnarney et al. 1974; Baildam et al. 1995; Daltroy et al. 1992). In addition, adverse effects to selective Cox-2 inhibitors such as rofecoxib have included confusion and hallucinations (Del Favero 2005; Sabolek et al. 2007).

That said, what is most notable in the treatment history is the variety of medications started and discontinued over the course of illness. In the absence of a firm diagnosis of bipolar disorder, several mood stabilizing anticonvulsants and atypical neuroleptics were introduced to target dysphoria and mood instability with at least initial improvement. Assuming full adherence to each regimen, which is always a question in adolescents, it appears that the patient experienced at least initial improvement and apparent gradual reduction or loss of efficacy. The same apparently holds true for treatment targeted at tics and OCD symptoms. The challenge appears to have been to address fluctuating levels of symptomatology: How does one truly evaluate adequate trials of multiple classes of medication, targeting symptoms from several domains, over the course of development in an early adolescent? Despite the fact that complex pharmacotherapy regimens are often used in clinical practice, the literature falls short of providing a solid evidence base for the efficacy of targeted combined pharmacotherapy (Wilens et al. 1995; The Tourette's Syndrome Study Group 2002). Thus, clinicians are often left to use clinical judgment in the face of debilitating symptoms in chronic, early onset disorders. Furthermore, our descriptive, categorical diagnostic system does not easily encompass a conceptual framework of understanding symptoms that may serve, at least in part, a defensive process; it is quite likely that L.'s social isolation drove a retreat into elaborated fantasy that takes the form of obsessional and hallucinatory-like perceptions.