Case Study
Year: 2022 | Month: April-June | Volume: 7 | Issue: 2 | Pages: 41-46
DOI: https://doi.org/10.52403/ijshr.20220407
GRIN2B-Related Syndrome: A Rare Case Study of a Male Child and Insight into Physiotherapy Treatment
Shruti Dnyaneshwar Ramekar1, Pooja Kumari Mahaseth2
1BPT Final Year Student, MGM School of Physiotherapy, Aurangabad, a Constitute Unit of MGMIHS, Maharashtra, India.
2Assistant Professor, MGM School of Physiotherapy, Aurangabad, MGMIHS, India.
Corresponding Author: Pooja Kumari Mahaseth
ABSTRACT
GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B) gene disorder is purely a neurodevelopmental disorder. It has a mild to profound intellectual disability, delayed development of speech along with motor skills. The GRIN2B gene majorly contributes to normal neuronal development in humans and is found on chromosome 12. The syndrome occurs when one of the two copies of the GRIN2B gene loses its normal function and as It plays a very important role in the transmission of signals in the brain.
Determine the psychological and neurological problems among GRIN2B-RELATED SYNDROME along with to Determine causes and risk factors of GRIN2B-RELATED SYNDROME. Also, to find the effectiveness of innovative physiotherapy treatment protocols for this rare condition. To Support Initiatives in the World aiming at improving Health and Wellbeing of GRIN2B-RELATED SYNDROME patients and Raise awareness of the role of Safety and Health culture and in protecting and enhancing children’s physical and psychological development. Here, we summarize the current reports of disease-associated variants in GRIN2B from patients with several neurodevelopmental disorders, and discuss implications, highlighting the importance of functional analysis and precision therapies.
Keywords: Developmental Delay; Intellectual Disability; Neurodevelopment Disorder; Physical Therapy.