Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy
| Autor: | Anne T. Berg, Lori L. Isom, Veronica C. Beck |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty Constipation Adolescent Gastrointestinal Diseases media_common.quotation_subject medicine.medical_treatment Logistic regression Severity of Illness Index Article Epilepsy Shab Potassium Channels Channelopathy Risk Factors Internal medicine Prevalence medicine Humans KCNQ2 Potassium Channel Child Gastrointestinal dysmotility media_common Brain Diseases business.industry Infant Appetite medicine.disease Health Surveys NAV1.1 Voltage-Gated Sodium Channel Logistic Models Autism spectrum disorder Child Preschool Pediatrics Perinatology and Child Health Channelopathies Female medicine.symptom business Ketogenic diet |
| Zdroj: | J Pediatr |
| ISSN: | 0022-3476 |
| Popis: | OBJECTIVE: To determine the prevalence of and identify factors associated with gastrointestinal (GI) symptoms among patients with channelopathy-associated developmental and epileptic encephalopathy (DEE). STUDY DESIGN: Parents of 168 patients with DEEs linked to SCN1A (N=59), KCNB1 (N=31), or KCNQ2 (N=78) completed online CLIRINX© surveys about their children’s GI symptoms. Analysis examined prevalence, frequency, and severity of GI symptoms, as well as DEE type, functional mobility, feeding difficulties, ketogenic diet, anti-seizure medication, autism spectrum disorder (ASD), and seizures. Statistical analyses included chi-square tests, Wilcoxon rank-sum analyses, and multiple logistic regression. RESULTS: GI symptoms were reported in 92/168 (55%) patients among whom 63/86 (73%) reported daily or weekly symptoms, 29/92 (32%) had frequent or serious discomfort, and 13/91 (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 < 0.05). Patient age, functional mobility, feeding difficulties, ASD, and seizures were not clearly associated with GI symptoms. Overall, no individual anti-seizure medication was significantly associated with GI symptoms across all DEE cohorts. CONCLUSIONS: GI symptoms are common and frequently severe in DEE patients. |
| Databáze: | OpenAIRE |
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