Publications

Authors:

Lo Barco, Tommaso; De Gaetano, Luciana; Santangelo, Elisabetta; Bravi, Tonino; Proietti, Jacopo; Cantalupo, Gaetano; Brambilla, Isabella; Darra, Francesca

Title:

SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life

Year:

2022

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

EPILEPSY & BEHAVIOR

ISSN of journal:

1525-5050

N° Volume:

127

Page numbers:

1-9

Keyword:

Autism; Comorbidities; Daily-living; Developmental and epileptic encephalopathy; Rehabilitation treatment; SYNGAP1; Adolescent; Child; Humans; Italy; Quality of Life; ras GTPase-Activating Proteins; Autism Spectrum Disorder; Epilepsy, Generalized

Short description of contents:

SYNGAP1-developmental and epileptic encephalopathy (SYNGAP1-DEE) has been recently featured as a distinct genetic disease characterized by global psychomotor delay mainly involving language, moder-ate-to-severe cognitive impairment, autism spectrum disorder, and a generalized epilepsy with sponta-neous and reflex seizures. The severity and variability of function impairment and the impact on patients' and caregivers' daily life are still poorly acknowledged. The SYNGAP1 Italian Family Association developed a survey, shared online with caregivers, exploring several issues, including: epilepsy outcome, comorbidities, daily-living skills, hospitalizations, rehabilita-tion treatments, economic burden, and COVID-19 pandemic impact. Caregivers of 13 children and adolescents participated in the survey. They most often show a fine and gross-motor impairment and a drug-resistant epilepsy with possibility to experience pluridaily absence seizures that may lead to periods of psychomotor regressions. Eating and sleep problems are reported in the majority. Most parents are concerned about language impairment, behavioral issues and lack of autonomy in daily-living activities. Specific neuropsychological evaluations for autism should be early considered in order to identify intervention strategies involving alternative communication strategies, which can positively affect behavior and quality of life. Rehabilitation treatment should aim to the acquisition and consolidation of personal autonomy. (c) 2021 Elsevier Inc. All rights reserved.

Product ID:

126303

Handle IRIS:

11562/1063817

Last Modified:

November 15, 2022

Bibliographic citation:

Lo Barco, Tommaso; De Gaetano, Luciana; Santangelo, Elisabetta; Bravi, Tonino; Proietti, Jacopo; Cantalupo, Gaetano; Brambilla, Isabella; Darra, Francesca, SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life «EPILEPSY & BEHAVIOR» , vol. 127 , 2022 , pp. 1-9

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