Authors : Dr. Akshay Singh Parihar; Dr. Divya Meshram; Dr. Simran Kanojia

Volume/Issue : Volume 10 - 2025, Issue 10 - October

Google Scholar : https://tinyurl.com/36r7sp46

Scribd : https://tinyurl.com/77tc6xrs

DOI : https://doi.org/10.38124/ijisrt/25oct365

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Abstract : Introduction: Baker-Gordon Syndrome (BAGOS) is an ultra-rare neurodevelopmental disorder caused by mutations in the SYT1 gene. It presents with global developmental delay (GDD), hypotonia, motor impairments, intellectual disability, and behavioral problems. Co-occurrence with Autism Spectrum Disorder (ASD) and GDD further worsens functional outcomes, leading to deficits in motor, sensory, social, and cognitive domains. Physiotherapy plays a key role in improving developmental milestones and quality of life through multidisciplinary rehabilitation.  Methodology: The patient, a two-year-old female with genetically confirmed Baker-Gordon Syndrome (SYT1 mutation) and associated hypotonia, gross motor delay, impaired speech, poor eye contact, and delayed social skills, was evaluated using GMFM, SRS-2, ISAA, and BFMF. She underwent a six-week physiotherapy program incorporating neurodevelopmental therapy, sensory integration, oro-motor training, and task-oriented activities, along with parent training for home-based reinforcement.  Results: Motor function improved with independent sitting for one-minute, better trunk control, and initiation of crawling. Oro-motor skills advanced with chewing, babbling, and monosyllables, while social responsiveness improved through eye contact, social smile, recognition of mother, and response to name. Outcome measures showed gains: GMFM 9.2%→23.8%, SRS-2 149→102, ISAA 78→70, and BFMF Level V→IV.  Conclusion: Multidisciplinary physiotherapy improved motor, sensory, oro-motor, and social functions in a child with Baker- Gordon Syndrome with ASD and GDD. Early diagnosis, family involvement, and individualized rehabilitation are key, and more studies are needed to guide management of SYT1-related disorders.

Keywords : Baker-Gordon Syndrome, SYT1 Mutation, Autism Spectrum Disorder.

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