Clayton, Lisa M;
Williams, Edwina;
Balestrini, Simona;
Sisodiya, Sanjay M;
(2022)
Case report: Dravet syndrome, feeding difficulties and gastrostomy.
Frontiers in Neurology
, 13
, Article 993906. 10.3389/fneur.2022.993906.
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Abstract
Dravet syndrome (DS) is a developmental and epileptic encephalopathy associated with variants in the voltage-gated sodium channel alpha 1 subunit (SCN1A) gene in around 90% of individuals. The core phenotype is well-recognized, and is characterized by seizure onset in infancy, typically with prolonged febrile seizures, followed by the emergence of multiple seizure types that are frequently drug-resistant, developmental delay, and intellectual disability. Comorbidities are common and include autism spectrum disorder, gait impairment, scoliosis, and sleep disorder. Feeding difficulties and weight loss are frequently reported by DS caregivers, and negatively impact quality of life, yet have received little attention. Here we report an adult with DS who developed reduced food and fluid intake in adolescence, resulting in weight loss and malnutrition. No underlying cause for her feeding difficulties was identified, and she subsequently required insertion of a percutaneous endoscopic gastrostomy. We review the occurrence of feeding difficulties in people with DS and discuss potential mechanisms.
| Type: | Article |
|---|---|
| Title: | Case report: Dravet syndrome, feeding difficulties and gastrostomy |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fneur.2022.993906 |
| Publisher version: | https://doi.org/10.3389/fneur.2022.993906 |
| Language: | English |
| Additional information: | © 2022 Clayton, Williams, Balestrini and Sisodiya. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| Keywords: | Dravet syndrome, SCN1A, co-morbidities, feeding and swallowing trouble, gastrostomy (PEG), weight loss |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10156777 |
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