Psychotic Symptoms and Catatonia in a Preadolescent Boy with Autism Spectrum Disorder

Chief Complaint and Presenting Problem

T. is an 11-year-old, left-handed, fourth-grade boy with previous diagnoses of autism, attention-deficit/hyperactivity disorder (ADHD), selective mutism, separation anxiety, and obsessive-compulsive symptoms. T. was referred for worsening emotional instability, disruptive behavior including physical aggression, anxiety, and concerns regarding psychotic symptoms over the past year. T.'s parents specifically were concerned about his episodes of laughing and hysterical crying, which last a few weeks and are often followed by a few weeks of aggressive behavior.

History of Present Illness

Mother reported that T. was a fairly typically developing toddler, but gradually became far less interested in other children, showed more aggressive behavior, and experienced more academic and emotional difficulties. At age 6, T. stopped speaking, first at school and then at home as well. At that time, T. did not respond, displayed flat affect, and did not laugh in any way. Mother indicated that he appeared to “snap out” of this behavior for a while only to resume again shortly thereafter. At the same age, T. started saving money, imitating SpongeBob, and collecting coins. These behaviors have continued to intensify over the past few years.

Between the ages of 5 and 7 years, mother states that T. reported talking to an “old man that came to him every night to give him milk, spoke about a girl, and talked about a man who jumped over the fence outside.” According to mother, these were not real events but experiences that T. believed to have happened. When T. was 6 1/2 years old, he was described as speaking in complete sentences; however, his use of language has deteriorated over time. He has also struggled with pretend play, had difficulties understanding relationships, and displayed limited social reciprocity,

Mother reports that T. was officially diagnosed with autism, intellectual disability, and language disorder at the age of 9 ½ years. Since age 9 or 10 T. has essentially been hearing voices on a daily basis that, by parental report, he has found to be humorous. He was reported to talk to bugs and flies on the wall, and has indicated that he heard voices coming from nowhere. In addition, he began to report seeing monsters, sea urchins, objects coming out of the television, and objects flying in the air toward him. Mother also reported at least two experiences in which T. felt as though bugs were crawling on him, and as a result he would scratch and irritate his skin. This behavior intensified when he was age 10.

Mother reported that recently T. “seems to get more and more autistic” and that his “brain is deteriorating.” He has self-reported that he cannot learn and that his brain does not work any more. Mother indicated that he seems to be losing skills, describing him as less aware of his surroundings and routines; in addition, he is reported to be displaying odd postures, holding his face in awkward positions, daydreaming, displaying abnormal motor tic-like movements, and rolling his eyes.

Mother reports that recently T. has developed an emergence of repetitive movements such as posturing of hands and fingers, eye blinking, right-hand clenching, and lip pursing. He has also developed echolalia, a tendency to perseverate, and increased auditory sensitivities. T. also has reportedly displayed intermittent catatonic behaviors, including mutism, withdrawal from others, flat affect, reduced movement with diminished response and stupor, periods of increased echolalia and stereotypies, staring, and possible waxy flexibility.

Past Psychiatric History

At approximately age 6, T. qualified for occupational therapy to address fine motor skills. Mental health services were initiated when T. was about 6 1/2 years old. T. had received psychotherapy since approximately age 7 1/2 or 8 years to address his disruptive behavior. At age 9 1/2 years he began speech therapy. T. was admitted for an acute psychiatric hospitalization at age 10 for disruptive behavior and medication adjustment.

T. received a psychological evaluation at age 6 indicating that his nonverbal IQ fell in the Low Average range on the Test of Nonverbal Intelligence – Third Edition (Nonverbal IQ=83). His basic reading and math skills were in the Impaired/Extremely Low range. The Childhood Autism Rating Scale (CARS) indicated that his behaviors fell in the non-autistic range at that time; however, rating scales indicated significant concerns with social problems, emotional lability, inattention, oppositional behaviors, cognitive problems, hyperactivity, anxious-shyness, perfectionism, social problems, and somatic complaints.

At age 9 1/2 years, psycho-educational testing revealed that T.'s nonverbal IQ fell in the Impaired/Extremely Low range on the Kaufman Assessment Battery for Children – Second Edition (KABC-2; Nonverbal IQ=58). There were also deficits in academic achievement and adaptive behavior. A separate psychological evaluation conducted at approximately the same time also revealed an IQ in the Impaired/Extremely Low range on the Stanford-Binet Intelligence Scales, Fifth Edition (SB-5; Full Scale IQ=50). The Autism Diagnostic Observation Schedule (ADOS) supported an autism diagnosis.

Developmental History

Mother reported no significant complications during her pregnancy. T. was born five weeks premature, weighing 2.32 kg; however, he did not require time in the neonatal intensive care unit at birth or an extended hospitalization. Mother indicated that he had an anxious temperament, did not like to be held, and never slept well.

Developmental milestones were reported to be within normal limits, including speaking single words at 10 months and phrases at 30 months, walking at 1 year, and toilet training at 3 1/2 years.

Educational History

T. reportedly started his first year of kindergarten late due to anxiety and social isolation. He has received resource room services since kindergarten. He repeated kindergarten because he was not making academic progress, was reluctant to attend, and had developed selective mutism, which interfered with academic functions.

T. is currently a fourth-grade student at a public school where he receives special education/resource room time for literacy and math. T. also receives speech therapy and a wide range of classroom accommodations, including extra time to complete assignments, visual aids, adaptation to tests, and peer tutoring.

Social History

T. lives with his biological mother, stepfather, and younger brother and sister. Biological mother left his biological father when T. was about one year old following an incident in which his father, in the presence of T., demonstrated threatening gestures toward T.'s mother during a verbal altercation. There were no reported physical injuries. There was no reported history of neglect or abuse.

T.'s stepfather worked for a bakery; mother did not work outside of the home. The family received support as needed from extended family members.

T.'s interests include computer and video games, walking outside, and finding “hidden treasure” with his metal detector. He reportedly got along fairly well with other children at times, but tended to be aggressive when attempting to initiate play. Mother described T. as having only one friend and not knowing how to relate to peers appropriately. He was often reported to be quiet and withdrawn with a preference for being alone or around adults. Mother indicated that T. could not tolerate the noise level of numerous children.

Family History

Family psychiatric history was significant for bipolar disorder in biological father. Maternal uncle was reported to have schizophrenia. There was a history of depression and anxiety on the maternal side of the family. Biological brother was diagnosed with autism at age 4.

Family medical history was reportedly significant for a maternal uncle with Graves' disease.

Medical History

T. was reported to be healthy with no major childhood illnesses, hospitalizations, or injuries. T. had no history of surgery, head injury with loss of consciousness, or a known seizure disorder. T. had a history of ear infections, frequent nosebleeds, and occasional gastrointestinal disturbance. At approximately age 7 1/2, T. underwent an evaluation for short stature, which demonstrated no clinically significant findings. At the time of admission, the family was concerned about recent episodes of vomiting following oral intake, occurring at least once daily, both at home and at school.

T.'s vaccinations were up to date. T. had no known food or environmental allergies.

Medication History

Outpatient medication records indicate that T.'s first trial of medication was at the age of 8 years to address disruptive behavior. T. was treated with aripiprazole 10 mg daily and fluoxetine 10 mg daily, later followed by the addition of clonidine 0.1 mg nightly which was eventually titrated to 0.4 mg per day. He continued on this medication combination for 1 1/2 years until aripiprazole was felt to be ineffective for behavioral dysregulation. T. was subsequently switched to risperidone 0.25 mg twice daily and titrated to maximum dose of 1 mg twice daily.

Additionally, around this same time, a trial of lisdexamphetamine titrated to 40 mg daily was added for hyperactivity and inattention. After a two-month trial, lisdexamphetamine was discontinued as there seemed to be no change in T.'s behavior. Fluoxetine was also discontinued around this time because T. was not “getting any better.”

Upon admission, T.'s medication included risperidone 1 mg twice daily and clonidine 0.2 mg at bedtime. The only adverse effect reported was excessive daytime sedation likely related to the clonidine.

Mental Status Examination

T. was an 11-year-old Caucasian boy who appeared slightly younger than his stated age. There were no notable dysmorphic facial features. He was casually dressed, demonstrating adequate and appropriate grooming and hygiene. He was generally cooperative; however, he did not demonstrate any spontaneous conversation, but did respond appropriately with 2–3 word sentences when asked direct questions. T. made good eye contact; in fact, he demonstrated somewhat of an intense stare at times with decreased blink. His speech was stilted, monotonous, of normal rate, and with a slightly nasal quality at times.

Psychomotor status was slightly hypokinetic. Of note, T. was able to change position on command without difficulty, but he did tend to hold his positioning well after being told to relax. There were no abnormal movements observed. Gait was within normal limits. T. stated that his mood was “okay.” His affect was slightly anxious but with limited range and overall mostly restricted; however, it was congruent with his stated mood and current situation. Thought processes were generally rational and goal directed; however, there was a quality of concreteness. He did not appear to be responding to internal stimuli. There was no evidence of paranoia or delusional thoughts.

Hospital Course

T. was admitted to the inpatient child diagnostic unit for comprehensive evaluation. Routine laboratory evaluation including a CBC, fasting lipid profile, basic metabolic panel, hemoglobin A1C, fasting glucose, liver function tests, TSH and free T4 levels revealed no clinically significant abnormalities. Electrocardiogram demonstrated normal sinus rhythm. Electroencephalogram (EEG), magnetic resonance imaging, and laboratory studies of heavy metals, ceruloplasmin, 24-hour urine copper, ammonia level, and urinalysis revealed no clinically significant findings. There were no neurological or other medical consults during T.'s admission, but neurology did review the EEG.

Stanford-Binet Intelligence Scales, Fifth Edition revealed a Full Scale IQ of 46, which appeared to be a decline from his nonverbal IQ of 83 at age 6 1/2 and more consistent with his IQ scores of 58 (SB-5) and 50 (KABC-2) at age 9 1/2. The Vineland Adaptive Behavior Scales, Second Edition supported a diagnosis of Intellectual Disability (Intellectual Developmental Disorder), Mild (DSM-5). Occupational therapy testing suggested auditory defensiveness and sensory registration in the vestibular channel.

Because T. had not had a medication-free period since the age of 8, a medication washout was recommended to better assess target symptoms. T. was allowed to acclimate to the milieu for a few days, and then the washout was initiated with reduction of risperidone to 0.5 mg twice daily. After this reduction, T. appeared to become a bit more engaged in the milieu, but was overall quiet and withdrawn. Risperidone was reduced further to 0.5 mg at bedtime. It was at this time that repetitive movements, such as finger moving and finger forking were observed, both with his left and right hands. There was an intermittent and transient minor shoulder shrug that was slightly different than previous encounters; however, it did appear to increase in more anxiety-provoking situations.

T. continued to demonstrate overall organized linear thinking despite his very limited verbal output. As the risperidone taper proceeded, T. became more energetic in the milieu, but not behaviorally unmanageable. There were no significant aggressive behaviors, and risperidone was tapered to complete discontinuation. T. continued to do well in the milieu. Abnormal involuntary movements continued but decreased in frequency compared to his initial presentation.

As clonidine was tapered over the next few days, T. began to demonstrate increased emotionality, fearfulness, and paranoia. He became fixated on “bugs” despite their absence, and was insistent they were crawling on him. He became so distressed that he inflicted several excoriations to his legs and abdomen. T. became more echolalic at times; however, he continued to exhibit scripted and monotonous speech. His psychomotor status became increasingly hypokinetic. He demonstrated abnormal posturing of his upper extremities bilaterally that appeared fixed but ceased on command, only to return to the same posturing just seconds to minutes later. Additionally, there was an intermittent, repetitive shoulder shrug. Although he mostly showed restricted affect, he intermittently displayed lability (e.g., laughing, followed by fear, followed by hollering). Additionally, T. appeared to be experiencing perceptual disturbances characterized by monsters coming at him and hearing voices. There was no evidence of bizarre delusions, disorganized speech, clearly disorganized behavior, or negative symptoms. Nevertheless, there was continued concern for the presence of a psychotic process that was difficult to differentiate from autism spectrum symptoms.

For 3 days, T. displayed diaphoresis, hypokinesis, periods of diminished response/stupor, periods of mutism, new posturing, echolalia, possible waxy flexibility, and staring. These symptoms occurred despite the absence of psychotropics for 7 days, except for clonidine 0.05 mg at bedtime. A trial of quietiapine, given the lower risk of extrapyramidal symptoms, was initiated with 50 mg at bedtime. Clonidine was discontinued a few days after quietiapine was initiated.

Physical exam did not reveal any rigidity or cogwheeling. T. subjectively reported feeling “hot.” Vital signs were within normal limits. These symptoms were initially thought to be extrapyramidal symptoms (EPS), and he was given two doses of benztropine 0.5 mg with no effect. His symptoms progressed with worsening hypokinesis, diminished response/stupor, complete mutism, and waxy flexibility.

At this time, with a working diagnosis of catatonia, lorazepam 0.5 mg was administered, and response was noted within a matter of a few minutes. T. was observed to regain movements and spontaneous speech, and slowly began to eat by himself unassisted. Given the acute positive response to lorazepam, it was given as a scheduled medication of 0.5 mg daily.

Over the course of the next 4 days, T. required 2 extra doses of lorazepam and his symptoms continued to improve. T. was discharged after 31 days of hospitalization on lorazepam 0.5 mg every morning and quietiapine 50 mg at bedtime with a plan for outpatient medication monitoring and behavioral treatment.

Outpatient Follow-Up

After discharge, T.'s symptoms continued to fluctuate; he continued to display catatonic symptoms including posturing and tactile hallucinations. Quietiapine was discontinued by the outpatient clinician approximately 1 month after discharge, and divalproex sodium was initiated and titrated to 125 mg twice daily. This medication change was reportedly prompted by a reported increase in disruptive behaviors as well as mood lability. Aripiprazole 5 mg daily and clonidine 0.1 mg at bedtime were added to the lorazepam. T. was able to attend school and participate in weekly psychotherapy at the last follow-up.

Multi-Axial Diagnoses

Brief Formulation

In summary, T. is an 11-year-old boy with a history of autism, psychotic symptoms, and intellectual disability referred for worsening emotional instability, disruptive behavior, aggression, anxiety, and concerns regarding psychotic symptoms over the past year. From a biological perspective, T. had a genetic vulnerability to neuropsychiatric illness as evidenced by his family history of autism, schizophrenia, and affective illness. From a psychosocial perspective, T.'s developmental trajectory was marked by social isolation and academic difficulties. Protective factors included a supportive family, developmental interventions of occupational and speech therapy, and educational supports.

Discussion

T.'s case demonstrates the complexities of understanding and appropriately treating developmental psychopathology, as he presented with deficits in social interaction, intellectual disabilities, abnormal movements, transient perceptual disturbances, and decreased emotional expression. A significant component of treatment was disentangling whether the movements were ASD-driven stereotypies, symptoms of catatonia, medication-induced abnormal movements, or some combination. Given the primary ASD diagnosis, it was believed that a component of the movements could be ASD-related. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) characterizes ASD as a clinically significant impairing disorder, present in the early developmental period, characterized by pervasive deficits in social communication and social interaction; and behaviors, interests, and activities that are repetitive or restricted (American Psychiatric Association [APA], 2013). DSM-5 makes a reference to “stereotyped or repetitive motor movements” (APA, 2013). Stereotyped and repetitive movements (e.g., hand flapping, spinning, flipping objects, echolalia, and idiosyncratic phrases) have been an essential diagnostic feature of ASD since its original conceptualization and, although present in autistic and non-autistic populations, have been shown to be particularly significant to ASD (Watt, Wetherby, Barber, & Morgan, 2008; Turner, 1999). T.'s presentation of echolalia and non-functional repetitive finger, hand, eye, and lip movements appeared to be consistent with the criteria presented in the DSM-5.

Another consideration was that the abnormal movements may have been related to the risperidone taper, specifically a withdrawal dyskinesia. Mejia and Jankovic (2010) concluded that 9.8% of children prescribed a neuroleptic had tardive dyskinesias (TD). Research indicates that acute dystonic reactions can be quickly resolved through the use of anticholinergic and anti-parkinsonian medications (Green, 2007). However, T.'s movements did not respond to anticholinergic medication, which suggested that they were not related to the risperidone. A well-established body of research supports the use of atypical antipsychotics, particularly risperidone (0.49–1.8 mg/day) in children with ASD with some indication that this medication might help to improve restricted, repetitive, and stereotyped behaviors (Jensen et al. 2007).

Another consideration for the abnormal movements was akinetic Parkinsonism, which resembles catatonia. Individuals may be mute, immobile, and assume postures. Benzodiazepines do not relieve akinetic Parkinsonism, but anticholinergic medications may provide benefit (Green, 2007). Non-convulsing type status epilepticus was another consideration. However, an EEG would typically demonstrate abnormal findings and T.'s EEG was normal.

T.'s stupor, mutism, negativism, posturing, stereotypies, echolalia, and waxy flexibility suggested catatonia. Wing and Shah (2000) reported that 6% of individuals with ASD met criteria for catatonia. When there has been a clear decline in functioning related to movement, self-care, or practical skills in a child with ASD, catatonia should be considered (Dhossche, Reti, & Wachtel, 2009). T.'s presentation was most consistent with a catatonia picture. Research suggests that benzodiazepines such as lorazepam are effective in treatment of catatonia (Seethalakshmi et al. 2008; Bush et al. 1996) and are not associated with high risks of neuroleptic malignant syndrome (NMS; Dhossche et al. 2013). T.'s robust response to lorazepam confirmed the catatonic diagnosis.

Another interesting characteristic of T.'s case is the apparent presence of hallucinations and disordered thought. Even though schizophrenia and ASD have been considered to be distinct diagnostic categories since at least the 1970s, research has demonstrated that the presence of schizophrenia in first-degree relatives is a significant risk factor for ASD, suggesting common etiological factors (Sullivan et al. 2012). Cannon et al. (2002) found that adults with psychotic symptoms often had impairments in multiple developmental domains in early childhood, as seen in ASD. Rapoport et al. (2009) found that 30 to 50% of cases with childhood-onset schizophrenia are preceded by or comorbid with ASD. Individuals with ASD may be more likely to display disorganized characteristics of psychosis instead of positive symptoms such as delusions and hallucinations (Konstantareas & Hewitt 2001). Furthermore, individuals with ASD may talk to themselves or laugh at imaginary objects in their environment, which is not always characterized as psychotic (Singh & Katz 1989). This makes T.'s case interesting, as he laughed at stimuli that others did not perceive; however he displayed actual perceptual disturbances across settings that led to fearfulness and impaired functioning. Taken together, these findings suggested an additional psychotic disorder diagnosis. Quietiapine was chosen to address these symptoms for T, given the low risk for extrapyramidal symptoms (Green, 2007).