RESUMO
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening. Only data prior to initiation of disease-modifying treatment were included. The median age at disease onset was 3.0 years, with a mean of 6.4 years. Significantly, 55% of patients experienced symptoms before the age of 36 months. 3% never learned to sit unaided, a further 13% never gained the ability to walk independently and 33% of ambulatory patients lost this ability during the course of the disease. 43% developed scoliosis, 6.3% required non-invasive ventilation and 1.1% required tube feeding. In conclusion, our study, in line with previous observations, highlights the substantial phenotypic heterogeneity in SMA. Importantly, this study provides novel insights: the median age of disease onset in patients with 4 SMN2 copies typically occurs before school age, and in half of the patients even before the age of three years. These findings support a proactive approach, particularly early treatment initiation, in this subset of SMA patients diagnosed pre-symptomatically. However, it is important to recognize that the register will not include asymptomatic individuals.
Assuntos
Atrofia Muscular Espinal , Proteína 2 de Sobrevivência do Neurônio Motor , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Idade de Início , Áustria/epidemiologia , Progressão da Doença , Alemanha , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/diagnóstico , Triagem Neonatal , Sistema de Registros , Estudos Retrospectivos , Proteína 2 de Sobrevivência do Neurônio Motor/genética , SuíçaRESUMO
The objective of this study was to assess the burden of disease and prevalence of lifestyle factors for adolescents and young adults with frequent episodic migraine. We conducted a secondary comparative analysis of data collected during two previous studies. Inclusion criteria for this analysis were age 15-35 years, 15 to 44 migraine episodes within 12 weeks, and completeness of Migraine Disability Assessment and lifestyle questionnaire data. Datasets of 37 adults (median age [interquartile range]: 25 [6]) and 27 adolescents (median age [interquartile range]: 15 [1]) were analyzed. 81% (n = 30) of adults reported severe disability (16% [n = 3] of adolescents; p < 0.001). Headache frequency (24 vs. 17 days; p = 0.005) and prevalence of regular analgesic use (60% [n = 22] vs. 18% [n = 5]; p = 0.002) were significantly higher in adults. In adults, sleep duration on weekdays was significantly lower (8.5 vs. 10 h; p < 0.001). Any consumption of caffeine tended to be higher in adolescents and alcohol consumption tended to be higher in adults (p > 0.05). This study underlines the importance of educating adolescents and young adults with migraine about lifestyle habits that are likely to interfere with the condition.
