Walaa ElNaggar

Background: Spasticity is one of the most challenging problems in the management of cerebral palsy. Various trials, treatment modalities, therapeutic approaches, and exercises have been used to treat or modulate spasticity. Phonophoresis uses therapeutic ultrasound to enhance the percutaneous absorption of medication. Objectives: To determine the effect of botulinum toxin-A phonophoresis on calf muscle spasticity and ankle range of motion in children with hemiplegia. Materials and methods: This study was conducted on thirty children with hemiplegic cerebral palsy. Their age ranged from 5 to 10 years, their grade of ankle plantar flexors spasticity ranged from 2 to 3 according to Modified Ashworth Scale and they were able to walk alone with some limitations, classified as level II according to Gross Motor Function Classification System (GMFCS). They were randomly classified into two groups: the study group, which received botulinum toxin-A phonophoresis in addition to traditional physiotherapy program, and the control group, which received placebo ultrasonic therapy and the same traditional physiotherapy program. The Neuro-EMG-Micro (Neurosoft) was used as surface electromyography device to measure H/M ratio of calf muscles. The EasyAngle digital goniometer was used to measure ankle dorsiflexion range of motion. The SoLo Therasonic 455 ultrasonic device was used to apply botulinum toxin-A phonophoresis. Results: Comparison within the study group revealed a significant decrease in post-treatment H/M ratio of gastrocnemius (GC) and soleus muscles compared to pre-treatment values. Additionally, there was a significant increase in post-treatment passive and active dorsiflexion range of motion (DF ROM) of ankle joint. Furthermore, there was a significant difference between the study and control groups in post-treatment H/M ratio of GC and soleus muscles, as well as in post-treatment passive and active DF ROM of ankle joint. Conclusion: Botulinum toxin-A phonophoresis significantly decreases spasticity of calf muscle and improves ankle ROM in children with hemiplegic cerebral palsy, especially when combined with traditional physical therapy.

Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder. A total of 49 patients from 44 unrelated families were studied. Selection criteria included age below 18 years and meeting Morava criteria (a score ≥ 3). The mitochondrial disease criteria (MDC) have been developed to quantify the clinical picture and evaluate the probability of an underlying mitochondrial disorder Exome sequencing, including mitochondrial genome sequencing, was carried out for each participant. Causative variants likely responsible for the phenotypes were identified in 68% of the study population. The mitochondrial subgroup constituted 41% of the studied population with a median age of 4 years. No primary pathogenic variants in mitochondrial DNA were detected. Pathogenic or likely pathogenic variants in eight mitochondrial genes were identified in 78% of the mitochondrial cohort. Additionally, seven novel variants were identified. Nonmitochondrial diagnoses accounted for 27% of the study population. In 32% of cases, disease‐causing variants were not identified. The current study underscores the diverse phenotypic and genetic landscape of mitochondrial disorders among Egyptian patients.