Work

Physical therapy rehabilitation of Cohen syndrome in Pakistan

Year: 2025

Type: article

Abstract: Cohen Syndrome is a rare genetic disorder. It is caused by the mutation of VPS13b gene which is present on chromosome number 8. It was first described in 1973. Here is a case report of a male child who presented to Paediatric Physical Therapy and Neuro Rehabilitation Department of The University of Lahore Teaching Hospital, Lahore, on July 25, 2021, with developmental delay due to hypotonia, typical facial gestalt, neutropenia, intellectual disability and speech delay. His genetic testing confirmed the diagnosis of Cohen syndrome. He received an intensive and holistic physical therapy programme for 3 years (July 2021 till July 2024) which helped him reach his developmental milestones. This study shows that with efficient goal setting, early intervention along with enriched environment and family centred approach can help the child achieve age-appropriate milestones.

Source: Journal of the Pakistan Medical Association

DOI: 10.47391/jpma.21053

Authors: Safa Saleem, Samia Sarmad, Muhammad Jawad, Sameed Liaqat, Muhammad Ahad, Wardah Rauf

Institution: University of Lahore

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $650