Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. Objective: To study feeding and swallowing problems in infants with SMA type 1, and to explore the relation between these problems and functional motor scores. Methods: We prospectively included 16 infants with SMA type 1 between September 2016 and October 2018. Eleven infants received palliative care and five infants best supportive care in combination with nusinersen. We compiled and used an observation list with feeding related issues and observed feeding sessions during inpatient and outpatient visits. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) was used as a measure of motor function. Results: All infants in the palliative care group (median onset of disease 14 days (range 1–56); median inclusion in the study 52 days (range 16–252) demonstrated symptoms of fatigue during feeding and unsafe swallowing. Symptoms were short nursing sessions (10–15 minutes), and not being able to finish the recommended feeding volumes (72%); increased frequency of feeding sessions (55%); coughing when drinking or eating (91%), and wet breathing during and after feeding (64%).Two out of five infants in the nusinersen group (median onset of disease 38 days (range 21–90); inclusion in the study at 63 days (range 3–218) were clinically pre-symptomatic at the start of treatment. The other three infants showed symptoms of fatigue and unsafe swallowing at inclusion in the study. These symptoms initially decreased after the start of the treatment, but (re)appeared in all five infants between the ages of 8 to 12 months, requiring the start tube of feeding. In the same period motor function scores significantly improved (median increase CHOP INTEND 16 points). Conclusion: Impaired feeding and swallowing remain important complications in infants with SMA type 1 after the start of nusinersen. Improvement of motor function does not imply similar gains in bulbar function.
INTRODUCTION: To provide a state of the art on diagnostics, clinical characteristics, and treatment of paediatric generalised joint hypermobility (GJH) and joint hypermobility syndrome (JHS).METHOD: A narrative review was performed regarding diagnostics and clinical characteristics. Effectiveness of treatment was evaluated by systematic review. Searches of Medline and Central were performed and included nonsymptomatic and symptomatic forms of GJH (JHS, collagen diseases).RESULTS: In the last decade, scientific research has accumulated on all domains of the ICF. GJH/JHS can be considered as a clinical entity, which can have serious effects during all stages of life. However research regarding the pathological mechanism has resulted in new potential opportunities for treatment. When regarding the effectiveness of current treatments, the search identified 1318 studies, from which three were included (JHS: n = 2, Osteogenesis Imperfecta: n = 1). According to the best evidence synthesis, there was strong evidence that enhancing physical fitness is an effective treatment for children with JHS. However this was based on only two studies.CONCLUSION: Based on the sparsely available knowledge on intervention studies, future longitudinal studies should focus on the effect of physical activity, fitness, and joint stabilisation. In JHS and chronic pain, the effectiveness of a multidisciplinary approach should be investigated.
