Quantitative analysis of the dystrophin gene by real-time PCR

Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR® Green I chemistry for routine diagnostics of DMD/BMD deletion carriers. Twenty female relatives of DMD/BMD patients with previously detected partial gene deletions were studied. The relative quantity of the target exons was calculated by a comparative threshold cycle method (ΔΔCt). The carrier status of all subjects was successfully determined. The gene dosage ratio for non-carriers was 1.07±0.20, and for carriers 0.56±0.11. This assay proved to be simple, rapid, reliable and cost-effective

Gross Motor Skills in Children with Cerebral Palsy and Intellectual Disability

Objectives: The aim of this study is to determine the connection of gross motor skills (locomotor skills and object control) and the degree of associated intellectual disability (ID) in children with cerebral palsy (CP). Participants and methods: The study sample included 54 children with CP and associated ID age 5 years to 6 years and 11 months. For the assessment of tested skills, The Gross Motor Function Classification System-Expanded and Revised (GMFCS-E&R), Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV) and Test of Gross Motor Development Second Edition (TGMD-2) were used. Results: The results of this study indicate better quality of locomotor skills than object control skills in children with CP and associated ID. Children with CP and mild ID have better quality of locomotor skills and object control, than children with CP and moderate ID. Differences between these two groups of children are presented relative to GMFCS-E&R levels. Conclusion: This study has determined significant interconnection of the quality of gross motor functions and intellectual capacity in preschool children with CP. This should be considered when creating more detailed individual developmental rehabilitation plan in children with CP and associated ID and predict adequate measures of developmental stimulation.This is the peer‐reviewed version of the article: Djuric-Zdravkovic, A.; Perovic, D.; Milanovic-Dobrota, B.; Japundza-Milisavljevic, M. Gross Motor Skills in Children with Cerebral Palsy and Intellectual Disability. Physikalische Medizin, Rehabilitationsmedizin, Kurortmedizin 2021, 31 (01), 44–51. [https://doi.org/10.1055/a-1193-5170