Catatonia in ASD with mTOR Variant Successfully Treated with ECT
Out on PubMed, from clinicians at Penn State Medical School, is this LTE:
Electroconvulsive Therapy for Catatonia with mTOR Mutation.
J Autism Dev Disord. 2021 Jan 4. doi: 10.1007/s10803-020-04815-7. Online ahead of print.PMID: 33394247
An adopted 19-year-old developmentally-delayed Caucasian male with ASD and past aggressive behaviors was referred to our ECT service for treatment of catatonia. He had presumptive absence seizures in childhood with normal non-contrast brain magnetic resonance imaging at age 16 and a normal electroencephalogram at age 18. Prior medication trials for aggressive behaviors were minimally effective and poorly tolerated, and included risperidone, olanzapine, valproate, and lorazepam. Four months prior to referral he began to refuse most oral intake resulting in a >30 lbs weight loss. He stopped communicating at home and at school, and his parents began to notice stereotyped finger-rubbing and staring in recent months. Lorazepam was started and titrated to 3 mg TID with little benefit, leading to referral for ECT.
He presented as an underweight young man with asymmetric facies. He was mute, abnormally still, and stared past the examiners. There was posturing of his arms and hands, as well as incessant stereotyped rubbing finger movement. He was alert, but cognition and other key parts of the mental status examination were unobtainable. He scored 19/69 on the Bush-Francis Catatonia Rating Scale (BFCRS), and included mutism, staring, posturing, stereotypy, immobility, grimacing, negativism, ambitendency, and perseveration. All baseline laboratory tests and electrocardiogram were unremarkable.
The patient received 45 uneventful outpatient ECT treatments over 9 months [#1–6 bitemporal, #7–22 right unilateral, #23–45 bitemporal]. All treatments were performed with a Thymatron System IV (pulse width 0.5 msec, frequency 70 Hz) using methohexital and succinylcholine for anesthesia with age-based stimulus dosing. He remained on lorazepam 3–6 mg daily and later olanzapine 2.5–5 mg daily. There was dramatic response after the initial index series of treatments. The BFCRS score decreased to 5/69. He was no longer mute, began to communicate and interact at school, and gained significant weight with improved oral intake. This dramatic response was not sustained. Despite this, the patient had improved verbalization, interaction, and weight gain without adverse side effects. During the latter period of ECT, the patient continued with gradual improvements in communication but developed recurrence of prior aggressive behaviors which escalated and led to a hiatus of ECT. No mood or psychotic symptoms were noted to explain the aggressive behavior. Four months post-ECT, most gains were sustained on olanzapine 5 mg/d and lorazepam 3–6 mg/d.
Genetic testing was obtained during the course of ECT. XomeDxPlus analysis included whole exome sequencing as well as mitochondrial genome sequencing and deletion testing. Analysis revealed a heterozygous mTOR variant of uncertain clinical significance [c.7628 (T>C); pIIe2543Thr (ATT>ACT) - exon 57]. Whole Genome Sequencing did not otherwise detect copy number variants or single nucleotide variants.
...This is the first report of catatonia and the use of ECT in an individual with an mTOR gene variant. This case adds to the emerging data regarding the various mTOR gene phenotypes, and suggests its variants may include catatonia among other behavioral disturbances. In addition, our experience shows that ECT may be an effective treatment modality for catatonia in patients with mTOR gene variations.
The discovery of new genetic variations contributing to neurodevelopmental disorders is ongoing. SKS, recognized in 2013 as mTOR gene mutations coding for rapamycin brain targets, is one such syndrome. A literature search yielded no results pertaining to ECT or catatonia in patients with mTOR-related disorders. While case literature revealed the presence of seizures in some children with mTOR mutations, the remote history of absence seizures, coupled with a recent negative MRI and EEG, led us to believe that the risk associated with ECT due to seizures was low for this patient. This guided our clinical decision-making in favor of ECT for catatonia and weight loss after unsuccessful medication trials.
This well-presented case report will be of particular interest to child psychiatrists and catatonia experts.
The dramatic initial response to ECT is quite typical; unfortunately, the partial loss of response with ongoing ECT is also sometimes encountered.
Reasons for this are as yet unknown; optimizing ECT courses and technique in this population is an important clinical work in progress.
Dr. Mormando and colleagues' LTE is definitely worth a full read (~8 minutes).
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