Background <p>Rett syndrome is an uncommon neurodevelopmental disorder in which there are progressive motor deficits, loss of function, and postural changes; however, there are still few articulated and well-documented rehabilitation techniques available for these patients. The purpose of this case report is to describe and evaluate the impact of a&#xa0;systematic physical rehabilitation plan on motor function, ambulation, and independence in an individual with Rett syndrome.</p> Methods <p>A&#xa0;single-case study was conducted in a&#xa0;15-year-old female who was diagnosed with Rett syndrome through genetic testing. The intervention included sensory integration therapy, neurodevelopmental therapy, nerve mobilization, and orthotic management, implemented over 4&#xa0;weeks. Outcome measures comprised the Pediatric Berg Balance Scale (PBBS), the Gross Motor Function Measure (GMFM-88), and the Vineland Adaptive Behavior Scales (VABS). Baseline and post-interventional assessments were compared to evaluate changes in motor control, balance, and adaptive functioning.</p> Results <p>The PBBS score after 4&#xa0;weeks was improved from 6/56 to 14/56, which shows enhancements in balance and stability. The GMFM-88 improved from 17.09% to 24.40%, which shows enhancement of voluntary motor control. The VABS-III score was improved from 56&#xa0;to 61, which shows enhancements in social, communication, and daily living skills.</p> Conclusion <p>Physiotherapy improves motor control, balance, and the ability to adapt in Rett syndrome. Physiotherapy interventions provide functional improvements and highlight the importance of customized rehabilitation in Rett syndrome.</p>

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Physical rehabilitation strategies in Rett syndrome: a rare case report

  • Priyal Mungra,
  • Nidhi Katharani,
  • Payal Daxini,
  • Yagnik Dave

摘要

Background

Rett syndrome is an uncommon neurodevelopmental disorder in which there are progressive motor deficits, loss of function, and postural changes; however, there are still few articulated and well-documented rehabilitation techniques available for these patients. The purpose of this case report is to describe and evaluate the impact of a systematic physical rehabilitation plan on motor function, ambulation, and independence in an individual with Rett syndrome.

Methods

A single-case study was conducted in a 15-year-old female who was diagnosed with Rett syndrome through genetic testing. The intervention included sensory integration therapy, neurodevelopmental therapy, nerve mobilization, and orthotic management, implemented over 4 weeks. Outcome measures comprised the Pediatric Berg Balance Scale (PBBS), the Gross Motor Function Measure (GMFM-88), and the Vineland Adaptive Behavior Scales (VABS). Baseline and post-interventional assessments were compared to evaluate changes in motor control, balance, and adaptive functioning.

Results

The PBBS score after 4 weeks was improved from 6/56 to 14/56, which shows enhancements in balance and stability. The GMFM-88 improved from 17.09% to 24.40%, which shows enhancement of voluntary motor control. The VABS-III score was improved from 56 to 61, which shows enhancements in social, communication, and daily living skills.

Conclusion

Physiotherapy improves motor control, balance, and the ability to adapt in Rett syndrome. Physiotherapy interventions provide functional improvements and highlight the importance of customized rehabilitation in Rett syndrome.