1/3. Use of power mobility for a young child with spinal muscular atrophy.BACKGROUND AND PURPOSE: Young children with severe motor impairments, such as spinal muscular atrophy, are often unable to move around their environment independently; therefore, they may be at risk for delays in areas of development not directly related to their motor limitations. Power mobility is an intervention that provides young children a means of independent movement and enables them to independently explore their environment. CASE DESCRIPTION: The participant was a 20-month-old girl with type II spinal muscular atrophy. INTERVENTION: The authors provided the child with a power wheelchair and gave her mother and physical therapist general guidelines to encourage her use of the power wheelchair. OUTCOMES: Within 6 weeks after receiving the power wheelchair, the child operated the wheelchair independently. She showed developmental gains in all domains of the Battelle Developmental Inventory and the Pediatric Evaluation of Disability Inventory over 6 months. The authors conducted an interview with the child's mother before and after intervention. She reported that the child was more independent after receiving the power wheelchair. DISCUSSION: The power wheelchair may have been associated with the changes in the child's mobility and her developmental changes over 6 months.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/3. Difficult airway in a child with spinal muscular atrophy type I.Spinal muscular atrophy (SMA) type I is a relatively common inherited neuromuscular disease of hypotonic newborns, but is not associated with craniofacial abnormalities. There is nothing in the literature about difficult intubation in patients affected by this disease. We report a case of 34-month-old girl with SMA type I who was scheduled for emergency endoscopic laser treatment of tracheal stenosis caused by granulations. tracheostomy was performed at 17 months of age and before this, the orotracheal tube was changed periodically without difficulty. For this laser treatment, orotracheal intubation was required. Preoperative physical examination revealed micrognathia and class II malocclusion. Opening her mouth was not difficult. Although difficult orotracheal intubation was predictable, we attempted to intubate her trachea as usual, but could not visualize the epiglottis. We decided to proceed with retrograde intubation, one of the standard techniques employed in a child with a difficult airway, via the tracheostome. A feeding nasogastric catheter was used as a guide catheter, and our strategy was successful. In this study we report a case of difficult airway in a child with SMA type I. The relationship between SMA type I with a tracheostome and difficult airway are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/3. Severe lethal spinal muscular atrophy variant with arthrogryposis.Spinal muscular atrophies are a clinically and genetically heterogeneous group of disorders. Atypical forms of the disease have also been described, including those with associated sensory deficits, hearing loss, cerebellar hypoplasia, congenital heart defects, arthrogryposis, and bone fractures at birth. The patient described here is a male infant, born to a 30-year-old mother at 34 weeks of gestation complicated with polyhydramnios. The first son of consanguineous parents had died with the same clinical features. The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination revealed profound generalized hypotonia, absence of deep tendon and neonatal reflexes, dysmorphic facies, arthrogryposis, clinodactyly, and left femur fracture. A muscle biopsy revealed variation in fiber size with occasional hypertrophic fibers. The postmortem examination revealed loss and degeneration of anterior horn cells. We propose that the patient, who presented with severe hypotonia, femur fracture, arthrogryposis, dysmorphic features, history of early death of his brother with the same clinical features and parental consanguinity, had probable X-linked spinal muscular atrophy. However, autosomal-recessive inheritance can not be completely excluded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |