Quality of performance of everyday activities in children with spina bifida: a population-based study.

AIM: The aim of this study was to evaluate the quality of the performance of everyday activities in children with spina bifida. METHODS: Fifty children with spina bifida (of 65 children in a geographic cohort), aged 6 to 14 years, were evaluated with Assessment of Motor and Process Skills. RESULTS: Compared with age-normative values, 60% of the children with spina bifida were found to have motor ability measures below 2 SD and 48% process ability measures below 2 SD. Most of the children with spina bifida had difficulties performing well-known everyday activities in an effortless, efficient and independent way, relating to both motor and process skills. The motor skills hardest to accomplish involved motor planning and the process skills hardest to accomplish were adaptation of performance and initiations of new steps, thus actually getting the task done. CONCLUSION: To reach autonomy in life, children with spina bifida may need particular guidance to learn not only how to do things but also how to get things done.

Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP), is one of the most common forms of LGMD in childhood. We describe two patients with LGMD2I and a Duchenne-like phenotype. In addition to the common L276I mutation, both patients had a new mutation in FKRP, L169P and P89L, respectively. Clinical onset was triggered by viral upper respiratory tract infections. In addition to the common dystrophic pattern with a weak immune histochemical staining for alpha-dystroglycan, muscle biopsy showed inflammatory changes. This was especially striking in one of the patients with up-regulation of MHC class 1 antigen, suggestive of myositis. Both patients showed a good clinical response to treatment with prednisolone, which was initiated at daily dosage of 0.35 mg/kg/day. Our results provide evidence for an inflammatory involvement in the pathological expression of LGMD2I and open up the possibility that this disorder could be treatable with corticosteroids.