Denisa Ioana TIBICHI, Doriana CIOBANU, Dorina IANC

Phelan-McDermid syndrome, autism spectrum disorder, physical therapy, gross motor function, primitive reflex integration.

Introduction: Phelan-McDermid syndrome is a neurodevelopmental disorder with a neurological and psychiatric phenotype, as well as various additional features that can vary considerably between affected individuals and in the course of disease development. To date, the diagnosis of this syndrome has been based on the presence of genetic alterations on chromosome 22q13, which encodes the synaptic scaffold protein SHANK3. Aim: The purpose of this paper is to emphasize the role of physical therapy in improving gross motor function and integrating primitive reflexes in children with Phelan-McDermid syndrome, and to compare it with autism spectrum disorder. Material and methods: The study was conducted at the Mihai Neșu Foundation (Oradea) over a period of 4 months and consisted of a therapeutic program twice a week, one hour per day. Two patients aged 6 and 5 years were involved in the study, both presenting similar characteristics, however, the girl with the genetic syndrome displayed more severe features and a more pronounced symptomatology. The intervention involved physical therapy program consisting of thermotherapy and massage of the lower limbs, as well as reducing muscle shortening using the V-plus device. The program also included sensory stimulation with the Z-vibe to activate the speech center, along with kinesthetic interaction using various items such as a feather, small balls, sand, and brush. Interventions also targeted the improvement of gross motor function and the integration of primitive reflexes. Results: Application of muscle-strengthening techniques led to observable improvements in musculoskeletal development. Training of the vestibular system resulted in decreased duration and intensity of nystagmus. Exercises aimed at gross and fine motor functions, as well as daily living activities, showed promising results for future applications. The child with autism spectrum disorder demonstrated greater and more significant progress than the child with Phelan-McDermid syndrome, likely due to the higher complexity and severity of the genetic condition. Conclusion: The research hypothesis was largely confirmed: implementing a 4-month comprehensive rehabilitation program, including thermotherapy, massage, physiotherapy, hydrotherapy, ABA therapy, and speech therapy, promoted muscle development, improvement of gross motor functions and daily living skills, better balance and gait, enhanced vestibular function, and integration of primitive reflexes in children with Phelan-McDermid syndrome and autism spectrum disorder.

| DOWNLOAD PDF |