Adult with autism spectrum disorder presenting with insidious onset of catatonia

While there is a growing body of literature on the higher prevalence of catatonia in patients with intellectual and developmental disability, its association with a broad variety of underlying conditions with little in common argues against a single common cause for catatonia (Kaufmann et al., 2017). It is still unclear whether catatonia is a general neuropsychiatric clinical phenotype with different underlying neuronal mechanisms or whether catatonia has a common phenotype and pathology. Whether catatonia untreated is neuronally noxious remains unproven. We describe a typical presentation of functional decline in early adulthood leading to the diagnosis of catatonia in a patient with autism.

A 21-year-old male with autism spectrum disorder (with intellectual impairment, language impairment and a known environmental factor), epilepsy, asthma and Scheuermann’s kyphosis was referred for progressive episodes of ‘slow motion’ that had occurred periodically since leaving school. The frequency and duration of the episodes were recorded and found to occur monthly and continue for approximately 2 weeks. There had been five of these episodes at the time the patient was referred. The patient displayed obsessional slowness in daily tasks, profound ambitendency, new mannerisms, loss of blinking and loss of his pre-morbid occasional single word expressive communication abilities.

Epilepsy was diagnosed at 12 years and he was commenced on carbamazepine, which continued for 4 years. There were several years with no seizures. The patient had two tonic-clonic seizures in 2016. He was commenced on levetiracetam for epilepsy and escitalopram by his neurologist for presumed major depressive disorder in the context of emerging symptoms of slowness. The patient’s sleep remained the same through episodes. His regular medications at first review were escitalopram 20 mg once daily, levetiracetam 1 g twice daily, fexofenadine 180 mg once daily, asthma inhalers and vitamin B6 and C supplements once daily.

The patient’s problems were diagnosed at age of 3 years by his paediatrician as global developmental delay and he was special schooled. After leaving school, he commenced attending a day programme placement through disability support services, consisting mostly of leisure activities. No organic cause for autism was found, including no abnormality on single nucleotide polymorphism microarray, fragile X polymerase chain reaction, metabolic screening tests or audiology testing.

Magnetic resonance imaging of the patient’s brain showed no abnormality to the mesial temporal lobes and no other definite structural abnormality. An electroencephalogram (EEG) performed demonstrated a background rhythm consisting of 9 Hz alpha activity, which was posterior dominant, symmetric and attenuated to eye opening. There was no focal slowing or epileptiform activity. A repeat EEG taken 6 months later was essentially identical.

Blood tests demonstrated normal thyroid function, electrolytes, liver function, full blood count, iron stores, vitamin B12, folate and no serum positivity for anti-VGKC or anti-NMDA antibodies. There was no evidence for epileptic or autoimmune encephalopathy. There was no progressive cerebral dysfunction, and the patient’s normal functions, albeit impaired secondary to his neurocognitive disorder, returned between episodes.

A Bush-Francis Catatonia Rating Scale (Fink and Taylor, 2003) was performed, modified to accommodate the patient’s essentially non-verbal status, thereby excluding 3 of 23 questions pertaining to mutism, echolalia and verbigeration (compare Breen and Hare (2017)). The patient returned an adjusted score of 21 out of 60, with high scores in the areas of stupor, catalepsy, mannerism, gegenhalten and ambitendency. There was no autonomic instability and the onset of catatonia appeared insidious rather than acute (compare Ghaziuddin et al. (2017)). Vital signs were within normal range. On physical examination, the patient demonstrated gegenhalten, staring, immobility and catalepsy. The pathological grasp reflex was not present.

The patient commenced 0.5 mg lorazepam twice daily and was reviewed 4 weeks later. He had not experienced further ‘slow motion’ episodes and single word expressive communication had returned. His mobility had been restored to include walking unaided and dancing. He was again able to finish meals independently without prompting. His fine motor skills (reaching, grasping, holding, transferring and manipulating) were again intact. He was still slowed in his movements with minimal blinking. Escitalopram was reduced to 10 mg once daily. The vitamin supplements were ceased. The lorazepam 0.5 mg twice daily was continued.

In hindsight, this patient displayed many of the physical features of catatonia (Kaufmann et al., 2017), and these were mistaken for psychological features of major depressive disorder. The heterogeneous course of catatonia and its intermittent recurrence can be easily mistaken for mood disorders, psychotic disorders, an exacerbation of stereotypies arising from developmental disorders or medication-induced movement disorders.

This case highlights the unique expertise psychiatry can bring to diagnostic problems in patients with autism. It emphasises the ongoing need for basic clinical data in catatonia and the development of enhanced catatonia instruments for use in developmental disability (Sienaert et al., 2011). The new Diagnostic and Statistical Manual of Mental Disorders (5th Ed.; DSM-5) diagnostic criteria for catatonia serve to advance its disentanglement from schizophrenia, further enumerate the conditions in which catatonia is expressed and will encourage more clinical and basic research on this condition.