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Paediatr Child Health. 2016 Jan-Feb; 21(1): 13–14.
PMCID: PMC4758419

Case 3: Regression in an adolescent with autism spectrum disorder

Sharon Smile, MBBS DM (Paeds) MSc

A 12-year-old boy with autism spectrum disorder (ASD), moderate intellectual disability and seizures initially exhibited symptoms of hyperactivity, irritability and obsessive behaviour. He was managed with 7.5 mg methylphenidate orally three times per day, 0.5 mg risperidone orally two times per day and 350 mg valproic acid orally two times per day with good initial response. He subsequently exhibited sudden onset of negative self-talk and crying episodes with no identifiable triggers. Over the following six months, he gradually developed urinary incontinence, slowing of motor function and decreased speech. He required verbal and physical prompts to complete a task; however, his symptoms of anxiety, hyperactivity and irritability abated. There was no history of illness or stressful life events. Clinically, he was mute and exhibited posturing movements. On physical examination, no neurological deficits or autonomic dysfunction were identified. Investigations, including an ophthalmological examination for Kayser-Fleisher rings, electroencephalogram, urine culture, complete blood count, thyroid, liver and renal function tests, ceruloplasmin and vitamin B12 levels, were normal. A drug screen only revealed risperidone and valproic acid metabolites. A trial of 2 mg lorazepam was ineffective. His medications were then weaned and discontinued, and his diagnosis became clear.


Initially the patient had waxy flexibility (slight resistance to positioning by the examiner), echopraxia (imitation of examiners’ movement) and experienced freezing while eating, walking and toileting. Discontinuation of his antipsychotic and stimulant medication resulted in a slow resolution of his catatonic symptoms. His findings were consistent with catatonia in ASD, although waxy flexibility is uncommon in the ASD population.

Catatonia is a clinical psychiatric presentation that may be acute or surreptitious in development. There are no biological markers for catatonia. Its presentation in ASD is ambiguous due to overlapping symptomatology and nosology. Catatonia is typified by the presence of ≥3 of the following manifestations: stupor; catalepsy; waxy flexibility; mutism; negativism; posturing; mannerism; stereotypy; agitation; grimacing; and echopraxia (1). Reported clinical presentation of catatonia in the context of ASD includes regression in motor or speech skills (2).

The prevalence of catatonia among youth and adults with ASD has been reported to be as high as 17%, which is greater than the 0.6% to 10% reported in the non-ASD psychiatric population (2,3). However, selection bias and retrospective study designs make the true prevalence rate unclear. Presentation of catatonia is most common between 10 and 19 years of age; in 50% of subjects, catatonia is preceded by behavioural disturbance, such as aggression, and 43% experience some emotional event. Catatonia is characterized not only by the number of symptoms but in the substantial deterioration in clinical presentation and function from baseline.

The etiology of catatonia is believed to involve neurochemical pathways involving dopamine blockade, glutamate hyperactivity and relative gamma-amino butyric acid (GABA) deficit. GABA acts inversely with glutamate and, when there is an excess of glutamate, GABA will suppress its release. This gives credence to the effectiveness of benzodiazepine (GABA agonist) in its management (4). Genetic linkage studies have shown potential association with ASD, catatonia and GABA receptors on chromosome 15q (5). Catatonia is associated with antipsychotic medications and other dopamine modulators. With the increased use of pharmacotherapy in the ASD population to manage irritability, it is imperative for physicians to recognize the presentation of catatonia and initiate management swiftly. Catatonia can be acute in onset, such as in the associated autonomic dysfunction ‘malignant catatonia’, which should be considered a medical emergency because it is associated with a 10% to 20% mortality rate (6). There are no ASD-specific rating scales for the assessment of catatonia.

The first-line management of catatonia is to discontinue precipitants such as antipsychotics. Historically, benzodiazepines, mainly lorazepam, are used as first-line pharmacotherapy for the management of catatonia in ASD. There are no randomized controlled trials evaluating pharmacotherapy options in this population. Management is based on data from case reports/series. A trial of 1 mg to 2 mg lorazepam orally or parentally is recommended. If there is improvement in catatonic symptoms, one should consider increasing the lorazepam dose. A maximum dose of 24 mg per day has been reported (7). Improvement is anticipated within one to two weeks. Long-term therapy for up to 12 months has been suggested with a tapering regimen.

Electroconvulsive therapy is usually indicated for severe catatonia in adults; however, its true efficacy and effectiveness to treat catatonia in ASD is unknown. Current evidence for its use is limited to case reports.

With the increased prevalence of ASD and use of antipsychotic medication among this population, recognition of catatonia and prompt management is essential. A team approach is recommended.


  • Catatonia in ASD commonly presents during adolescence with regression of motor and speech skills.
  • The potential cause is an imbalance in glutamate (high) and dopamine (low) and, therefore, discontinuation of antipsychotics and initiation of benzodiazepines is recommended.
  • Consider autoimmune, infectious, recreational drug exposure and metabolic etiologies when encountering this presentation.


1. American Psychiatric Association . Diagnostic and statistical manual of medical disorders. 5th edn. Arlington: American Psychiatric Publishing; 2013.
2. Wing L, Shah A. Catatonia in autistic spectrum disorders. Br J Psychiatry. 2000;176:357–62. [PubMed]
3. Hutton J, Goode S, Murphy M, Le Couteur A, Rutter M. New-onset psychiatric disorders in individuals with autism. Autism. 2008;12:373–90. [PubMed]
4. Northoff G, Steinke R, Czcervenka C, et al. Decreased density of GABA-A receptors in the left sensorimotor cortex in akinetic catatonia: Investigation of in vivo benzodiazepine receptor binding. J Neurol Neurosurg Psychiatry. 1999;67:445–50. [PMC free article] [PubMed]
5. Stober G, Seelow D, Ruschendorf F, Ekici A, Beckmann H, Reis A. Periodic catatonia: Confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity. Hum Genet. 2002;111:323–30. [PubMed]
6. Fink M, Taylor MA. Catatonia: A Clinician’s Guide to Diagnosis and Treatment. Cambridge: Cambridge University Press; 2003.
7. Dhossche DM, Shah A, Wing L. Blueprints for the assessment, treatment, and future study of catatonia in autism spectrum disorders. Int Rev Neurobiol. 2006;72:267–84. [PubMed]

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