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Gepubliceerd in:

04-01-2021 | Letter to the Editor

Electroconvulsive Therapy for Catatonia with mTOR Mutation

Auteurs: Charles B. Mormando, DO, John C. Garman, BS, Cezary Mikoluk, BS, Andrew Francis, PhD MD

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2021

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Extract

Catatonia is being increasingly recognized in autism spectrum and other neurodevelopmental disorders. Several studies show that 12–20% of adolescents with autism have comorbid catatonia, which may be an underestimate of true prevalence (Mormando and Francis 2020). Catatonia may be under-recognized, as repetitive speech and behavior, purposeless agitation, and stereotyped self-injury are misinterpreted as intrinsic signs of ASD or other neurodevelopmental disorders (Wachtel et al. 2018; Mormando and Francis 2020). A recent research and clinical focus has led to viewing some repetitious movements, intractable self-injurious behavior, and purposeless agitation as recognizable signs of catatonia that may respond to benzodiazepines or electroconvulsive therapy (ECT) (Wachtel et al. 2018). …
Literatuur
go back to reference Gordo, G., Tenorio, J., Arias, P., Santos-Simarro, F., Garcia-Minaur, S., Moreno, J. C., et al. (2018). mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clinical Genetics, 93(4), 762–775.CrossRef Gordo, G., Tenorio, J., Arias, P., Santos-Simarro, F., Garcia-Minaur, S., Moreno, J. C., et al. (2018). mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clinical Genetics, 93(4), 762–775.CrossRef
go back to reference Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285–291.CrossRef Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285–291.CrossRef
go back to reference Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C., Jansen, L. A., Menon, S., et al. (2016). Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurology, 73(7), 836–845.CrossRef Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C., Jansen, L. A., Menon, S., et al. (2016). Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurology, 73(7), 836–845.CrossRef
go back to reference Mormando, C., & Francis, A. (2020). Catatonia revived: A unique syndrome updated. International Review of Psychiatry, 32(5–6), 403–411.CrossRef Mormando, C., & Francis, A. (2020). Catatonia revived: A unique syndrome updated. International Review of Psychiatry, 32(5–6), 403–411.CrossRef
go back to reference Smith, L. D., Saunders, C. J., Dinwiddie, D. L., Atherton, A., Miller, N. A., Soden, S., et al. (2013). Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. Genomes Exomes, 2, 63–72.CrossRef Smith, L. D., Saunders, C. J., Dinwiddie, D. L., Atherton, A., Miller, N. A., Soden, S., et al. (2013). Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. Genomes Exomes, 2, 63–72.CrossRef
go back to reference Wachtel, L. E., Shorter, E., & Fink, M. (2018). Electroconvulsive therapy for self-injurious behavior in autism spectrum disorders: Recognizing catatonia is key. Current Opinion in Psychiatry, 31(2), 116–122.CrossRef Wachtel, L. E., Shorter, E., & Fink, M. (2018). Electroconvulsive therapy for self-injurious behavior in autism spectrum disorders: Recognizing catatonia is key. Current Opinion in Psychiatry, 31(2), 116–122.CrossRef
Metagegevens
Titel
Electroconvulsive Therapy for Catatonia with mTOR Mutation
Auteurs
Charles B. Mormando, DO
John C. Garman, BS
Cezary Mikoluk, BS
Andrew Francis, PhD MD
Publicatiedatum
04-01-2021
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 10/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-020-04815-7