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Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. Infants with DS are especially vulnerable to the detrimental effects of prolonged and frequent seizures on development. Fenfluramine (FFA) is approved for the treatment of DS in patients aged 2 years and older. This study aims to evaluate the safety and efficacy of FFA in patients with DS younger than 2 years. We analyzed safety, tolerability, seizure, and neuropsychological outcome in a real‐world setting. Developmental profile was investigated using Griffiths Mental Development Scales (GMDS). Five patients received FFA at a mean age of 14.9 months (9.6–18.6). Median follow‐up was 13 months (interquartile range [IQR] = 12.9–24.4). All patients showed good tolerance to FFA. No significant variation of body mass index or echocardiographic issue was observed. Monthly median convulsive seizure frequency (MCSF) was 1.71 (IQR = 1.56–3.27) at the 6‐month baseline period and.92 (IQR =.43–1.28) at last follow‐up, with a median 54.43 (IQR = 40.91–60.83) percentage reduction in MCSF. Two of five patients had a performance improvement on GMDS subscales. Overall, the use of FFA below the age of 2 years in our small sample of patients was safe and represents a promising opportunity for seizure control and for protection of the neurodevelopmental outcome. [ABSTRACT FROM AUTHOR]

This article explores the global issue of preterm birth and its impact on child health. It highlights the short- and long-term consequences of premature birth, including respiratory and gastrointestinal complications, as well as neurodevelopmental impairments. The article emphasizes the importance of early detection tools, such as neuroimaging, in diagnosing and providing timely intervention for preterm infants. It also discusses advanced techniques like diffusion tensor imaging and synthetic MRI to better understand the neurodevelopmental alterations in premature infants. The study mentioned in the article found significant correlations between the General Movements Assessment (GMA) and the Hammersmith Infant Neurological Examination (HINE) in preterm infants, suggesting the potential use of these assessments for early detection and prognosis of neurodevelopmental disorders. The article concludes by emphasizing the need for innovative interventions to improve the quality of life for premature children. [Extracted from the article]

TRMT10A is related to a syndrome characterized by early-onset diabetes mellitus, microcephaly, epilepsy, and intellectual disability. We report a case of a patient showing spastic-ataxic paraparesis and Dandy-Walker variant associated with a causative homozygous c.421-1G > A variant in the TRMT10A gene, affecting a canonical splicing site. This mutation disrupts the "SAM-dependent methyltransferase TRM10-type domain", which is implicated in methylation and S-adenosylmethionine metabolic biological processes, crucial for mitochondrial and glucose metabolism. The prominent neurological involvement of our patient enhances the implication of TRMT10A in the brain development, suggesting a potential association between TRMT10A variants and dominant neurological phenotypes. This case expands the clinical spectrum of TRMT10A syndrome highlighting the importance of considering this gene in the evaluation of patients with brain/cerebellar malformations and spastic-ataxic paraparesis. Further research is warranted to elucidate the underlying pathogenic mechanisms and potential therapeutic implications., (© 2024 Wiley Periodicals LLC.)