Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation

Peña-Almazan, Susan

doi:10.1016/j.diabres.2014.12.010

Cited by 6 publications

(5 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Table 2 reports the findings regarding motor function and muscular tone. Of the 14 studies that evaluated one or both of these outcomes, 13 showed improvements after sulfonylurea initiation 14,18,20,26,28,29,31,36,41,43,45,46,48,49,52 . The pooled RD for hypotonia improvement was 90% (95%CI, 69%;111%; I 2 = 0%) according to 10 studies providing a high level of evidence (Figure 6, Table 4).…”

Section: Resultsmentioning

confidence: 98%

“…Finally, in three studies, the sulfonylurea treatment was either discontinued or not started (Supporting Infomation, File S1). The remaining 34 studies consisted of 22 case‐reports, seven cohort studies, four cross‐sectional studies, and one case–control study 14,15,18,20,21,24–52 . In all, these 34 studies included 253 patients.…”

Section: Resultsmentioning

confidence: 99%

“…Nine studies with a total of 21 patients evaluated epilepsy based on EEG patterns before and after sulfonylurea initiation 18,24,26,34,38,39,48,49,51 . Of 16 patients with KCNJ11 mutations, 11 experienced a decrease in epilepsy severity (pooled RD, 56%; 95%CI, 23%;89%; I 2 , 34%), compared to one of the five patients with ABCC8 mutations (pooled RD, 20%; 95%CI, −30%;79%; I 2 , 0%).…”

Section: Resultsmentioning

confidence: 99%

“…Of the 14 studies that evaluated one or both of these outcomes, 13 showed improvements after sulfonylurea initiation. 14,18,20,26,28,29,31,36,41,43,45,46,48,49,52 The pooled RD for hypotonia improvement was 90% (95%CI, 69%;111%; I 2 = 0%) according to 10 studies providing a high level of evidence (Figure 6, Table 4). For improved motor function, the pooled RD was 73% (95%CI, 35%;111%; I 2 = 0%) and the evidence was also of high quality (Figure 7, Table 4).…”

Section: Motor Function and Muscular Tonementioning

confidence: 96%

“…Nine studies with a total of 21 patients evaluated epilepsy based on EEG patterns before and after sulfonylurea initiation. 18,24,26,34,38,39,48,49,51 Of 16 patients with KCNJ11 mutations, 11 experienced a decrease in epilepsy severity (pooled RD, 56%; 95%CI, 23%;89%; I 2 , 34%), compared to one of the five patients with ABCC8 mutations (pooled RD, 20%; 95%CI, À30%;79%; I 2 , 0%). The overall pooled RD was 48% (95%CI, 19%;77%; I 2 , 34%), with a high quality of evidence (Figure 5 and Table 4) after exclusion of a study in which sulfonylurea therapy was given in combination with high-dose prednisolone 24 (Supporting Information, File S2).…”

Section: Epilepsymentioning

confidence: 99%

See 4 more Smart Citations

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses

et al. 2022

View full text Add to dashboard Cite

Objective: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP-channel function, sulfonylureas improve long-term glycemic control. Although KATP channels are extensively expressed in the brain, the effect of sulfonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulfonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-motor integration, and attention deficits in children and adults with KCNJ11 and ABCC8-related neonatal-onset diabetes mellitus.Research Design and Methods: We conducted a systematic review and metaanalyses of the literature (PROSPERO, CRD42021254782), including individualpatient data, according to PRISMA, using RevMan software. We also graded the level of evidence.Results: We selected 34 of 776 publications. The evaluation of global neurological function before and after sulfonylurea (glibenclamide) treatment in 114 patients yielded a risk difference (RD) of 58% (95%CI, 43%-74%; I 2 = 54%) overall and 73% (95%CI, 32%-113%; I 2 = 0%) in the subgroup younger than 4 years; the level of evidence was moderate and high, respectively. EEG studies of epilepsy showed a RD of 56% (95%CI, 23%-89%; I 2 = 34%) in patients with KCNJ11 mutations, with a high quality of evidence. For hypotonia and motor function, the RDs were 90% (95%CI, 69%-111%; I 2 = 0%) and 73% (95%CI, 35%-111%; I 2 = 0%), respectively, with a high level of evidence.Conclusions: Glibenclamide significantly improved neurological abnormalities in patients with neonatal-onset diabetes due to KCNJ11 or ABCC8 mutations. Hypotonia was the symptom that responded best. Earlier treatment initiation was associated with greater benefits.

show abstract

Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%