Beneficial effects of childhood selective dorsal rhizotomy in adulthood

Background: Selective dorsal rhizotomy (SDR) has been used to treat children with spastic cerebral palsy (CP) for over three decades. However, little is known about the outcomes of childhood SDR in adults.  Objectives: 1) To study the effects of childhood SDR on the quality of life and ambulatory function in adult life. 2) To determine late side effects of SDR in adults.   Methods: Adults (> 17.9 years) who underwent SDR in childhood (2 - 17.9 years) between 1987 and 2013 were surveyed in 2015. Patients completed a survey, including questions on demographic information, quality of life, health, surgical outcomes, motor function, manual ability, pain, braces/orthotics, post-SDR treatment, living situation, education level, work status, and side effects of SDR.  Results: In our study population of 294 patients (18.0 - 37.4 years), patients received SDR during the ages of 2.0 - 17.9 years and were followed up 2.2 to 28.3 years after surgery. Eighty-four percent had spastic diplegia, 12% had spastic quadriplegia, and 4% had spastic triplegia. The majority (88%) of patients reported improved post-SDR quality of life and 1% considered the surgery detrimental. Most (83%) would recommend the procedure to others and 3% would not. However, patients who would not recommend SDR to others ambulated with a walker or were not ambulatory at all prior to SDR. The majority (83%) of patients improved (30%) or remained stable (53%) in ambulation. Twenty-nine percent of patients reported pain, mostly in the back and lower limbs, with a mean pain level of 4.4 ± 2.4 on the Numeric Pain Rating Scale (NPRS). Decreased sensation in small areas of the lower limbs was reported by 8% of patients, though this did not affect daily life. Scoliosis was diagnosed in 28%, with 40% of these patients pursuing treatment. Whether scoliosis was related to SDR is not clear, though scoliosis is known to occur in patients with CP and also in the general population. Only 4% of patients underwent spinal fusion.  Orthopedic surgeries were pursued by 59% of patients. The most common orthopedic surgeries were hamstring lengthenings (31%), Achilles tendon lengthenings (18%), adductor lengthenings (16%), and derotational osteotomies (16%). Twenty-four percent of all patients later underwent hip surgery and 8% had surgeries on their knees.  Conclusion: Results of this study indicate that the beneficial effects of childhood SDR extend to adulthood quality of life and ambulatory function without late side effects of surgery

Models of distal arthrogryposis and lethal congenital contracture syndrome

Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. While skeletal muscle sarcomeric genes comprise many of the first genes identified for Distal Arthrogyposis, other mechanisms of disease have been demonstrated, including key effects on peripheral nerve function. While Distal Arthrogryposis and Lethal Congenital Contracture Syndromes display superficial similarities in phenotype, the underlying mechanisms for these conditions are diverse but overlapping. In this review, we discuss the important insights gained into these human genetic diseases resulting from in vitro molecular studies and in vivo models in fruit fly, zebrafish, and mice

Effects of bracing in adolescents with idiopathic scoliosis

BACKGROUND: The role of bracing in patients with adolescent idiopathic scoliosis who are at risk for curve progression and eventual surgery is controversial. METHODS: We conducted a multicenter study that included patients with typical indications for bracing due to their age, skeletal immaturity, and degree of scoliosis. Both a randomized cohort and a preference cohort were enrolled. Of 242 patients included in the analysis, 116 were randomly assigned to bracing or observation, and 126 chose between bracing and observation. Patients in the bracing group were instructed to wear the brace at least 18 hours per day. The primary outcomes were curve progression to 50 degrees or more (treatment failure) and skeletal maturity without this degree of curve progression (treatment success). RESULTS: The trial was stopped early owing to the efficacy of bracing. In an analysis that included both the randomized and preference cohorts, the rate of treatment success was 72% after bracing, as compared with 48% after observation (propensity-score–adjusted odds ratio for treatment success, 1.93; 95% confidence interval [CI], 1.08 to 3.46). In the intention-to-treat analysis, the rate of treatment success was 75% among patients randomly assigned to bracing, as compared with 42% among those randomly assigned to observation (odds ratio, 4.11; 95% CI, 1.85 to 9.16). There was a significant positive association between hours of brace wear and rate of treatment success (P CONCLUSIONS: Bracing significantly decreased the progression of high-risk curves to the threshold for surgery in patients with adolescent idiopathic scoliosis. The benefit increased with longer hours of brace wear. (Funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases and others; BRAIST ClinicalTrials.gov number, NCT00448448opens in new tab.)</p