Publications by authors named "I Hannibal"
Intorduction: Most studies on the progression of childhood-onset multiple sclerosis (MS) involve relatively short follow-up periods, focusing primarily on neurological outcomes and disability progression. The influence of these and other factors on the health-related quality of life is not known. To gain a comprehensive understanding of early-onset MS, it is crucial to evaluate the effects of treatment and the disease on quality of life.
View Article and Find Full Text PDFMigraine has a relevant impact on pediatric health. Non-pharmacological modalities for its management are urgently needed. This study assessed the safety, feasibility, acceptance, and efficacy of repetitive neuromuscular magnetic stimulation (rNMS) in pediatric migraine.
View Article and Find Full Text PDFArticle Synopsis
- The study aims to describe the phenotypic and genotypic spectrum of a neurodevelopmental disorder linked to a specific gene implicated in periventricular nodular heterotopia (PVNH).
- Researchers examined 17 individuals with variants, identifying several types of genetic mutations and their effects on brain structure and function.
- Findings highlighted a range of symptoms, including intellectual disability, seizures, microcephaly, and various neurological and sensory defects, confirming the gene's role in this autosomal dominant syndrome characterized by abnormal neuronal migration.
Article Synopsis
- - GATAD2A is a part of the NuRD complex, which influences gene expression and chromatin remodeling, playing a critical role in neural development.
- - Variants in GATAD2A were found in five individuals with neurodevelopmental disorders (NDDs), showing symptoms like global developmental delay and brain defects.
- - The identified mutations are believed to disrupt the protein's ability to interact with other NuRD components, contributing to a new type of developmental disorder classified as a NuRDopathy.
Article Synopsis
- Targeted therapies for spinal muscular atrophy (SMA) have led to efforts to include SMA screening in newborn screenings globally, with Germany implementing it in October 2021 after successful pilot projects from 2018 to 2021.
- Follow-up criteria were established involving key stakeholders to ensure effective transition to this screening process, although initial false positives were reported in 3 cases.
- After refining screening methods, confirmation of results improved, and on average, patients began seeing specialists by day 12 of life, with therapy starting by day 26, maintaining timely intervention compared to earlier pilot efforts.