Preprint: Patient and family reported clinical picture of IRF2BPL-related disorders

WHY IT MATTERS

This is the first large patient-reported study of IRF2BPL-related disorder, which could help doctors recognize the condition earlier and give families a clearer picture of what to expect over time.

Researchers studied a rare genetic disorder called IRF2BPL-related disorder, which affects brain development and causes delays in learning and thinking skills. They surveyed patients and families to better understand what symptoms appear, when they start, and how they change over time. This is one of the first studies to collect detailed information directly from patients about their experiences with this condition.

Patient and family reported clinical picture of IRF2BPL-related disorders Authors: Goldstone-Joubert, Z. et al. Server: medRxiv Category: neurology Abstract: IRF2BPL-related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein-Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability and developmental regression. There are no reports of genotype-phenotype correlations. We developed a retrospective and prospective patient-reported survey to assess diagnostic information, presenting symptoms and longitudinal follow-up of neurological symptoms for up to two years. Clinical information was a