Pediatrician Resource Pages

  • Administering Zolgensma

    Zolgensma, or onasemnogene abeparvovec, is an adeno-associated virus vector-based gene therapy that was approved by the FDA in May 2019. Given the newness of this therapy, it is important that healthcare providers are educated on specific information regarding the administration of Zolgensma so that they can optimize […]

  • How Salbutamol May Help Patients with Spinal Muscular Atrophy: New Insights

    The vast majority of spinal muscular atrophy (SMA) cases are caused by a mutation in the survival motor neuron 1 (SMN1) gene, which leads to abnormally low levels of SMN1 gene products.1 Many attempts at therapy have focused on how to increase SMN levels in SMA patients, with the hopes of reversing or slowing the The […]

  • Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

    At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients has been collected in recent years. However, given […]

  • Spinal Muscular Atrophy – Pre-Symptomatic Intervention 

    The recently published Standards of Care for spinal muscular atrophy (SMA) promote more proactive and earlier approaches to the management of patients with severe SMA.1 These recommendations are likely based on the promising results of recent clinical trials that suggest that more effective treatments for SMA may be […]

  • Sleep Disorders in Spinal Muscular Atrophy

    Those with spinal muscular atrophy (SMA) often suffer from sleep disorders, but the specific reasons for sleep disturbances vary. For instance, some studies on SMA report sleep disturbances resulting from breathing disorders like sleep apneas, whereas others report problems with the architecture of sleep, which can be […]

  • What is Meaningful Change in Spinal Muscular Atrophy?

    A tool that is commonly used to evaluate motor function in spinal muscular atrophy (SMA) patients is the Hammersmith Functional Motor Scale (HFMSE).1 Given the extensive use of this tool, particularly for clinical trial research that aims to identify and develop therapeutic interventions to help those with […]

  • Assistive Devices and Equipment in Spinal Muscular Atrophy: Feeding

    Feeding is often a challenge in people with spinal muscular atrophy (SMA), particularly in those with more severe forms, and feeding difficulties can lead to malnutrition and suboptimal body composition.1,2 Loss of ability to sit is associated with the need for feeding support, which occurs earlier in SMA type 1 than […]

  • Respiratory Care in Spinal Muscular Atrophy: Intubation and Extubation 

    Intubation in spinal muscular atrophy (SMA) can be difficult or impossible,1 but the need for endotracheal intubation in SMA patients is increasing.2 In SMA type 1, respiratory failure can require frequent intubation in children ages three and below.3 As life expectancy in SMA continues to rise, medical treatments […]

  • Spinal Muscular Atrophy: Awareness and Attitudes

    There is a paucity of information on awareness of and attitudes towards spinal muscular atrophy (SMA) and medical approaches to the disease.1,2 However, research into what is known about SMA has revealed that the public is largely unfamiliar with SMA, and even physicians and other healthcare providers have a limited […]

  • Assistive Devices and Equipment: Oxygenation and Breathing 

    Spinal muscular atrophy (SMA) is associated with serious respiratory system complications,1 and pulmonary disease is the primary cause of morbidity and mortality in both SMA type 1 and SMA type 2 patients.2 Given the frequency and extent of oxygenation and breathing challenges in SMA patients, a number of assistive […]