Buchignani Bianca, Coratti Giorgia, Cutrì Chiara, Scattoni Maria Luisa, Pane Marika, Palermo Concetta, Leone Daniela, De Sanctis Roberto, Stanca Giulia, Antonaci Laura, Cutrona Costanza, Pera Maria Carmela, Brogna Claudia, Cristofani Paola, Fulceri Francesca, Baranello Giovanni, Mercuri Eugenio
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Department of Translational Research and of New Surgical and Medical Technologies Pisa University, Pisa, Italy.
Sci Rep. 2025 Jul 24;15(1):26984. doi: 10.1038/s41598-025-12484-8.
The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by newborn screening (NBS). Behavioral assessment included screening questionnaires (strengths and difficulties questionnaire (SDQ), social communication questionnaire (SCQ), and sensory profile 2 (SP2)), neurobehavioral observation, CARS2 and DSM-5 criteria. The cohort included thirty-one children (25 type I and 6 NBS) aged 2-10 years. On SDQ prosocial scale, 14/31 showed borderline or abnormal results. 6/14 had borderline scores at the SCQ questionnaire, while none had abnormal scores. Neurobehavioral observation suggested the presence of ASD in 3/31, confirmed by CARS2 and DSM-5 criteria. 5/31 showed other behavioral disorders. Our findings suggest that autism is present in SMA infants in a percentage slightly higher than in the general population. Other neurobehavioral difficulties are less frequent. Our study highlighted the challenges to select appropriate tools in infants with limited mobility and the need for a clear diagnostic pathway, starting with screening questionnaires followed by more appropriate diagnostic tools to reduce the number of false positive results.
脊髓性肌萎缩症（SMA）中疾病修饰疗法的出现延长了患者的预期寿命，但也带来了新的挑战。我们旨在探索I型SMA患者以及通过新生儿筛查（NBS）确诊的患者的神经行为特征。行为评估包括筛查问卷（长处与困难问卷（SDQ）、社会沟通问卷（SCQ）和感觉统合量表2（SP2））、神经行为观察、儿童孤独症评定量表第二版（CARS2）和《精神疾病诊断与统计手册》第五版（DSM-5）标准。该队列包括31名2至10岁的儿童（25名I型患者和6名通过NBS确诊的患者）。在SDQ亲社会量表上，14/31的患者结果处于临界或异常水平。6/14在SCQ问卷上得临界分，无人得异常分。神经行为观察表明3/31的患者存在孤独症谱系障碍（ASD），经CARS2和DSM-5标准确认。5/31的患者表现出其他行为障碍。我们的研究结果表明，SMA婴儿中孤独症的发生率略高于一般人群。其他神经行为困难则较少见。我们的研究突出了在活动能力有限的婴儿中选择合适工具的挑战，以及建立明确诊断途径的必要性，首先从筛查问卷开始，然后使用更合适的诊断工具以减少假阳性结果的数量。
