Efficacity of tDCS in catatonic patients with Phelan McDermid syndrome, a case series

Moyal, Mylène; Plaze, Marion; Baruchet, Ambre; Attali, David; Cravero, Cora; Raffin, Marie; Consoli, Angèle; Cohen, Doron; Haroche, Aurélie; Chaumette, Boris

doi:10.1016/j.brs.2022.10.005

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…These data were collected retrospectively from the parents, which explains the discrepancy with the child’s follow-up. Case B has been reported in four case series ( 1 (patient 18), 7 (patient 1), 68 , 69 (case 2)) and case A was reported in one ( 69 (case 1)). The parents provided written informed consent for the publication of these cases and for the videos.…”

Section: Methodsmentioning

confidence: 99%

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

Dhossche,

de Billy,

Laurent-Levinson

et al. 2023

Front. Psychiatry

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BackgroundIndividuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity. Catatonic disturbances occasionally reported from adolescence onwards in PMS prompts exploration of the hypothesis that this clinical entity may be an early-onset form of catatonia. The largest cohort of children with childhood catatonia was studied by the Wernicke-Kleist-Leonhard school (WKL school), which regards catatonia as a collection of qualitative abnormalities of psychomotricity that predominantly affecting involuntary motricity (reactive and expressive). The aim of this study was to investigate the presence of psychomotor signs in three young adults carrying a mutation or intragenic deletion of the SHANK3 gene through the prism of the WKL school conception of catatonia.MethodsThis study was designed as an exploratory case study. Current and childhood psychomotor phenomena were investigated through semi-structured interviews with the parents, direct interaction with the participants, and the study of documents reporting observations of the participants at school or by other healthcare professionals.ResultsThe findings show catatonic manifestations from childhood that evolved into a chronic form, with possible phases of sub-acute exacerbations starting from adolescence.ConclusionThe presence of catatonic symptoms from childhood associated with autistic traits leads us to consider that this singular entity fundamentally related to SHANK3 mutations could be a form of early-onset catatonia. Further case studies are needed to confirm our observations.

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Section: Methodsmentioning

confidence: 99%

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

Dhossche,

de Billy,

Laurent-Levinson

et al. 2023

Front. Psychiatry

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“…In less severe forms of catatonia, amantadine, a glutamate antagonists, is now considered as a second line therapy when benzodiazepine have been unsuccessful and ECT is not available [14]. Among the treatments being investigated for catatonia, brain stimulation techniques, in particular noninvasive neuromodulation with transcranial direct-current stimulation (tDCS) targeting the left dorsolateral prefrontal cortex and temporo-parietal junction, have shown rapid efficacy in two recent case series [15 ▪▪ ,16 ▪ ]. At a later stage, first-generation antipsychotics should be avoided and, if necessary, second-generation antipsychotics with a weaker D2 antagonist effect (e.g.…”

Section: Catatoniamentioning

confidence: 99%

How to manage catatonia, Parkinson and dementia in ICU

Attali,

Calligaris,

Grabli

et al. 2024

Current Opinion in Critical Care

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Purpose of review The rising prevalence of neurodegenerative and mental disorders, combined with the challenges posed by their frailty, has presented intensivists with complex issues in the intensive care unit (ICU). This review article explores specific aspects of care for patients with catatonia, Parkinson's disease (PD), and dementia within the context of the ICU, shedding light on recent developments in these fields. Recent findings Catatonia, a neuropsychiatric syndrome with potentially life-threatening forms, remains underdiagnosed, and its etiologies are diverse. PD patients in the ICU present unique challenges related to admission criteria, dopaminergic treatment, and respiratory care. Dementia increases the risk of delirium. Delirium is associated with long-term cognitive impairment and dementia. Summary While evidence is lacking, further research is needed to guide treatment for ICU patients with these comorbidities.

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“…The rationale came from a number of studies in healthy individuals and in patients with substances abuse and food craving (Fregni et al, 2008a , b ; Boggio et al, 2009 ; Goldman et al, 2011 ). In the case of PMS, tDCS was applied for a modulatory action on the glutamatergic system, particulary on NMDA receptors, to ameliorate catatonia associated to PMS (Moyal et al, 2022 ). The rationale came from evidence on patients with schizophrenia and bipolar disorder with catatonia (Haroche et al, 2022 ) and was grounded in the neurobiological hypothesis of PMS, involving haploinsufficiency of SHANK3 associated with NMDA receptor hypofunctionality and catatonia (Kohlenberg et al, 2020 ).…”

Section: From Basic Mechanisms Toward Potential Tdcs Applications In ...mentioning

confidence: 99%

Transcranial Direct Current Stimulation in neurogenetic syndromes: new treatment perspectives for Down syndrome?

Faralli,

Fucà,

Lazzaro

et al. 2024

Front. Cell. Neurosci.

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This perspective review aims to explore the potential neurobiological mechanisms involved in the application of transcranial Direct Current Stimulation (tDCS) for Down syndrome (DS), the leading cause of genetically-based intellectual disability. The neural mechanisms underlying tDCS interventions in genetic disorders, typically characterized by cognitive deficits, are grounded in the concept of brain plasticity. We initially present the neurobiological and functional effects elicited by tDCS applications in enhancing neuroplasticity and in regulating the excitatory/inhibitory balance, both associated with cognitive improvement in the general population. The review begins with evidence on tDCS applications in five neurogenetic disorders, including Rett, Prader-Willi, Phelan-McDermid, and Neurofibromatosis 1 syndromes, as well as DS. Available evidence supports tDCS as a potential intervention tool and underscores the importance of advancing neurobiological research into the mechanisms of tDCS action in these conditions. We then discuss the potential of tDCS as a promising non-invasive strategy to mitigate deficits in plasticity and promote fine-tuning of the excitatory/inhibitory balance in DS, exploring implications for cognitive treatment perspectives in this population.

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Efficacity of tDCS in catatonic patients with Phelan McDermid syndrome, a case series

Cited by 5 publications

References 11 publications

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

How to manage catatonia, Parkinson and dementia in ICU

Transcranial Direct Current Stimulation in neurogenetic syndromes: new treatment perspectives for Down syndrome?

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