Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy - 22/09/21
Abstract |
Objective |
To determine the prevalence of and identify factors associated with gastrointestinal (GI) symptoms among children with channelopathy-associated developmental and epileptic encephalopathy (DEE).
Study design |
Parents of 168 children with DEEs linked to SCN1A (n = 59), KCNB1 (n = 31), or KCNQ2 (n = 78) completed online CLIRINX surveys about their children's GI symptoms. Our analysis examined the prevalence, frequency, and severity of GI symptoms, as well as DEE type, functional mobility, feeding difficulties, ketogenic diet, antiseizure medication, autism spectrum disorder (ASD), and seizures. Statistical analyses included the χ2 test, Wilcoxon rank-sum analysis, and multiple logistic regression.
Results |
GI symptoms were reported in 92 of 168 patients (55%), among whom 63 of 86 (73%) reported daily or weekly symptoms, 29 of 92 (32%) had frequent or serious discomfort, and 13 of 91 (14%) had frequent or serious appetite disturbances as a result. The prevalence of GI symptoms varied across DEE cohorts with 44% of SCN1A-DEE patients, 35% of KCNB1-DEE patients, and 71% of KCNQ2-DEE patients reporting GI symptoms in the previous month. After adjustment for DEE type, current use of ketogenic diet (6% reported), and gastrostomy tube (13% reported) were both associated with GI symptoms in a statistically, but not clinically, significant manner (P < .05). Patient age, functional mobility, feeding difficulties, ASD, and seizures were not clearly associated with GI symptoms. Overall, no individual antiseizure medication was significantly associated with GI symptoms across all DEE cohorts.
Conclusions |
GI symptoms are common and frequently severe in patients with DEE.
Le texte complet de cet article est disponible en PDF.Keywords : constipation, gastrointestinal dysmotility, voltage-gated sodium channel, voltage-gated potassium channel
Abbreviations : ASD, CBD, DEE, GI, Kv, Nav
Plan
| Supported by the Stanley Manne Children’s Research Institute and Ann & Robert H. Lurie Children’s Hospital of Chicago Precision Medicine Strategic Research Initiative and Pediatric Epilepsy Research Consortium, Dallas, TX (to A.B.); the National Institutes of Health, United States (R37-NS076752, to L.I. and F31-NS120492, to V.B.). The authors declare no conflicts of interest. |
|
| Portions of this study were presented at the Annual Meeting of the American Epilepsy Society, December 4th-8th, 2020 (virtual). |
Vol 237
P. 41 - octobre 2021 Retour au numéro
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