Prevalence and genotypic associations of epilepsy in Prader-Willi Syndrome: A systematic review and meta-analysis

•The prevalence of epilepsy in Prader-Willi syndrome was 11% and the prevalence of febrile seizures was 9%.•Deletions in the 15q11-q13 region increased the likelihood of febrile seizures by 3.76-fold compared with chromosome 15 disomies.•Although there is an deleterious trend for deletions in epilep...

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Published in:Epilepsy & behavior 2024-06, Vol.155, p.109803-109803, Article 109803
Main Authors: Pascual-Morena, Carlos, Martínez-Vizcaíno, Vicente, Cavero-Redondo, Iván, Álvarez-Bueno, Celia, Martínez-García, Irene, Rodríguez-Gutiérrez, Eva, Otero-Luis, Iris, del Saz-Lara, Andrea, Saz-Lara, Alicia
Format: Article
Language:English
Subjects:
Chromosomes, Human, Pair 15 - genetics
Epidemiology
Epilepsy - epidemiology
Epilepsy - genetics
Genetic
Genotype
Humans
Neuroepidemiology
Neurology
Prader-Willi Syndrome - complications
Prader-Willi Syndrome - epidemiology
Prader-Willi Syndrome - genetics
Prevalence
Rare disease
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Summary:•The prevalence of epilepsy in Prader-Willi syndrome was 11% and the prevalence of febrile seizures was 9%.•Deletions in the 15q11-q13 region increased the likelihood of febrile seizures by 3.76-fold compared with chromosome 15 disomies.•Although there is an deleterious trend for deletions in epilepsy, this could not be confirmed and future studies are needed. To estimate the prevalence of epilepsy and febrile seizures and their association with genotype, i.e., 15q11-q13 deletions, uniparental chromosome 15 disomy (UPD) and other mutations, in the population with Prader-Willi syndrome (PWS). A systematic search of Medline, Scopus, Web of Science and the Cochrane Library was conducted. Studies estimating the prevalence of seizures, epilepsy and febrile seizures in the PWS population were included. Meta-analyses of the prevalence of epilepsy and febrile seizures and their association with genotype using the prevalence ratio (PR) were performed. Fifteen studies were included. The prevalence of epilepsy was 0.11 (0.07, 0.15), similar to the prevalence of febrile seizures, with a prevalence of 0.09 (0.05, 0.13). The comparison “deletion vs. UPD” had a PR of 2.03 (0.90, 4.57) and 3.76 (1.54, 9.18) for epilepsy and febrile seizures. The prevalence of seizure disorders in PWS is higher than in the general population. In addition, deletions in 15q11-q13 may be associated with a higher risk of seizure disorders. Therefore, active screening for seizure disorders in PWS should improve the lives of these people. In addition, genotype could be used to stratify risk, even for epilepsy, although more studies or larger sample sizes are needed.
ISSN:1525-5050
1525-5069
DOI:10.1016/j.yebeh.2024.109803