Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel <i>SHANK3</i> splicing site mutation

Kankuri-Tammilehto, Minna; Sauna‐aho, Oili; Arvio, Maria

doi:10.1002/mgg3.1780

Cited by 4 publications

(2 citation statements)

References 17 publications

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“…In this situation, the recurrence risk is 50%. Detection of a somatic mosaic pathogenic variant in a parent would confer a case‐specific increased recurrence risk (Kankuri‐Tammilehto et al, 2021).…”

Section: Resultsmentioning

confidence: 99%

“…Growth scores, also known as person‐ability scores (or raw scores if growth scores are not available on the instrument used for assessment) are needed to distinguish true regression from the expected slower‐than‐normal growth rate. There may be a subgroup of individuals with PMS who show particular declines in cognitive measures around adolescence, due to lack of skills progression or loss of previously acquired skills (Kankuri‐Tammilehto et al, 2021; Kohlenberg et al, 2020; Kolevzon et al, 2019; Reierson et al, 2017; Verhoeven et al, 2020).…”

Section: Resultsmentioning

confidence: 99%

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Updated consensus guidelines on the management of Phelan–McDermid syndrome

Srivastava,

Sahin,

Buxbaum

et al. 2023

American J of Med Genetics Pt A

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Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and largescale genotype-phenotype investigations. The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide guidance for clinicians, researchers, and the general community. A taskforce was established with clinical experts in PMS and representatives from the parent community. Experts joined subgroups based on their areas of specialty, including genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, nephrology, endocrinology, cardiology, gynecology, and dentistry. Taskforce members convened regularly between 2021 and 2022 and produced specialty-specific guidelines based on iterative feedback and discussion. Taskforce leaders then established consensus within their respective specialty group and harmonized the guidelines. The For affiliations refer to page 2038

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Updated consensus guidelines on the management of Phelan–McDermid syndrome

Srivastava,

Sahin,

Buxbaum

et al. 2023

American J of Med Genetics Pt A

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Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

Kankuri-Tammilehto

Sauna‐aho²,

Arvio

2021

Molec Gen & Gen Med

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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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Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri bution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 4 publications

References 17 publications

Updated consensus guidelines on the management of Phelan–McDermid syndrome

Updated consensus guidelines on the management of Phelan–McDermid syndrome

Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

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

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