Combining Intensive Rehabilitation With a Nonfunctional Isokinetic Strengthening Program in Adolescents With Cerebral Palsy: Protocol for a Randomized Controlled Trial.

BACKGROUND: Cerebral palsy is the most common brain injury in the pediatric population. Patients with cerebral palsy present different affectations such as decreased muscle strength, gait deviations, impaired proprioception, and spasticity. Isokinetic strengthening programs combined with intensive rehabilitation may improve muscle strength and therefore gait efficiency. OBJECTIVE: The primary aim of this randomized controlled trial is to compare the effect of an intensive rehabilitation combined with a nonfunctional isokinetic progressive strengthening program to an intensive rehabilitation alone on gait parameters and muscle strength in patients with cerebral palsy. Another goal of this study is to determine whether adding an isokinetic program to intensive rehabilitation is more effective than intensive rehabilitation alone at decreasing spasticity and improving joint position sense in patients with cerebral palsy. METHODS: A total of 30 adolescents with spastic diplegia cerebral palsy (Gross Motor Function Classification System levels I to III) will be randomized, by an independent researcher, into a 3-week intensive rehabilitation and isokinetic progressive strengthening group or an intensive rehabilitation control group. Gait parameters, muscle strength, spasticity, and knee joint position sense will be assessed. These variables will be evaluated at baseline (T0) and at the end of the intervention (T1). The intensive rehabilitation will consist of physiotherapy sessions twice a day and hydrotherapy and virtual reality gait training once a day. The isokinetic training group will have a total of 9 supervised isokinetic strength training sessions focusing on knee flexors and extensors with different execution speeds. RESULTS: The protocol has been accepted by the French National Ethics Committee in October 2022. The inclusion of patients will start in November 2022. CONCLUSIONS: The combination of intensive rehabilitation with an isokinetic program on knee flexors and extensors has not been studied yet. The findings of this study may determine if an isokinetic strength training program of knee flexors and extensors is beneficial for the improvement of gait parameters, muscle strength, spasticity, and joint position sense in adolescents with spastic diplegia. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/43221.

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.

Long-term Results After Extensive Soft Tissue Release in Very Severe Congenital Clubfeet.

BACKGROUND: The purpose of this study was to determine the long-term results, at an average follow-up of 22 years, in 66 patients (105 clubfeet) with very severe congenital idiopathic clubfeet according to the Dimeglio-Bensahel scale. METHODS: Patients were treated with an extensive soft tissue release in infancy. Results of the treatment were assessed according to the 100-point system of Ghanem-Seringe. At the latest follow-up, all participants were evaluated with regard to pain and the overall function of the lower extremities. At the latest follow-up, anteroposterior and lateral radiographs of the affected foot and the contralateral normal foot, when applicable, were performed. RESULTS: In total, 92% of the patients were satisfied. The mean functional score of Ghanem-Seringe was 70.4 points. No foot had an excellent result, 19 feet had a good result, 16 had a fair result, and 70 had a poor result. A total of 86 feet were painful after strenuous activities or during walking. Eleven patients walked with a limp. In total, 82 feet were stiff. Ankle dorsiflexion and plantar flexion averaged 4.0±4.5 degrees and 19.9±10.7 degrees. Bone deformations such as flattening of the talar dome were observed in 93 feet. Among these feet, the Ghanem score was significantly lower (P<0.05). Necrosis of the navicular was present in 28 feet and subluxation in 82 feet. In total, 32 feet had moderate osteoarthritis. DISCUSSION: Results revealed that despite anatomically and radiologically imperfect clubfeet, most patients demonstrated satisfaction. Satisfaction was not significantly correlated with residual deformity, but with the sensation of a normal gait by the patient and the high initial Dimeglio-Bensahel score. Female patients were significantly less satisfied than male patients because they were more constrained in their social life than boys. Their main dissatisfaction was the atrophy of the calf. We noted several residual deformations. Plantar release seems to contribute to the high rate of overcorrection in our series. Extensive posterolateral and plantar releases in very severe clubfeet was responsible for sequelae, morphologic, anatomic, and functional, especially in adulthood. Deterioration of results over time was confirmed by our series. LEVEL OF EVIDENCE: Level IV.

Relevance of intraglandular injections of Botulinum toxin for the treatment of sialorrhea in children with cerebral palsy: a review.

BACKGROUND: After the age of 4 years, drooling becomes pathological and impacts the quality of life of children with cerebral palsy. Intraglandular injection of Botulinum toxin is one of the treatments available to limit this phenomenon. AIMS: The objectives of this review were to validate the efficacy of Botulinum toxin injections for drooling in children with cerebral palsy, determine recommendations and identify potential side effects. METHODS: We conducted a literature review from 2001 in the following databases: Embase, Pubmed and Cochrane using the keywords: sialorrhea, drooling, hypersalivation, Botulinum toxin, cerebral palsy and children. Only the articles evaluating the efficacy of Botulinum toxin in children with cerebral palsy over the age of 4 were researched. RESULTS: Eight studies were found: 2 case studies, 3 open and non-controlled studies and 3 randomized controlled trials. Efficacy results in this indication are quite encouraging and the use of BTX injections is safe but the overall level of evidence of these studies was quite low. CONCLUSION: However, intraglandular injection of Botulinum toxin has a place among the therapeutic array available for the management of sialorrhea in this population even if no standardized protocol is available yet.

A comparison of gait in spinal muscular atrophy, type II and Duchenne muscular dystrophy.

This study investigated and compared the gait of two patients with spinal muscular atrophy, type II (SMA II) and two patients with Duchenne muscular dystrophy (DMD). These diseases cause a progressive and proximal to distal muscular weakness resulting in the loss of ambulation. The DMD cases had comparable muscle weakness with the SMA II cases on manual muscle testing and patients were assessed using kinematics, kinetics, electromyography and video analysis. SMA II and DMD patients employed different gait strategies for forward movement. SMA II patients used pelvic rotation initiated by the upper body to propel the leg forward and produce the necessary step-length whereas the DMD patients tended to use hip flexion and plantar flexion. Management of SMA II patients would include preservation of hip abductor and flexor strength to maintain mobility.