Abstract:Despite their severe disabilities and symptoms, most SMARD1 patients are well integrated into their home environment and two thirds of them are able to attend kindergarten or school. This information will help to counsel parents at the time of disease manifestation.
“…In contrast to the predominant features reported in previous articles [6,7], this boy displayed hypertonia initially. Later with muscle tone decreased, he developed hypotonia.…”
“…In contrast to the predominant features reported in previous articles [6,7], this boy displayed hypertonia initially. Later with muscle tone decreased, he developed hypotonia.…”
“…Children's cognitive abilities have also varied from normal to severe impairments, but from the data provided, it is unclear whether these same cognitive abilities have been affected by the adequacy of ventilation [14,15].…”
Section: Discussionmentioning
confidence: 99%
“…Considerable variability in the presentation of SMARD1 and its phenotype in childhood has been reported, including cases with severe early infantile onset sensory-motor neuropathy and those with a later, juvenile onset of respiratory failure [9][10][11][12][13][14]. However there are virtually no data on disease course in affected young adults.…”
“…The natural course of SMARD1 was described in a longitudinal study on 11 infant patients aged between 2 and 14 years which were followed for 7.8 years [11]. A semi-quantitative scoring system was applied to evaluate the specific features of the disease consisting in 10 items that reflected the development of the disease.…”
Section: Neuromuscular and Respiratory Featuresmentioning
confidence: 99%
“…The burden on families' life is enormous as these patients are entirely dependent on mechanical ventilation [11]. Children usually require prophylaxis with antibiotics to prevent recurrent pulmonary infections, and a particular attention should be given to nutritional aspects.…”
Section: Patients' Management and Therapeutic Perspectivesmentioning
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