Journal of the Korean Society of Physical Medicine (대한물리의학회지)

The Korean Society of Physical Medicine (대한물리의학회)
권호 표지
DOI QR코드

DOI QR Code

Effects of Individualized Intensive Physical Therapy for a Child with MECP2 Duplication Syndrome: A Case Study

  • Chang-Ho Kim (Developmental Rehabilitation Department, Yonsei Child Development Center)
  • Received : 2023.09.20
  • Accepted : 2023.10.31
  • Published : 2023.11.30
Download PDF
⟨ Previous Next ⟩

Abstract

PURPOSE: High-intensity physical therapy may help improve some gross motor developmental delays through an increased treatment frequency. This study describes an increase in physical therapy frequency and intensity over an eight-week time frame for a child with a rare genetic neurodevelopmental disorder. METHODS: A single-subject research was performed. The subject was a nine-year-old boy with MECP2 Duplication Syndrome. The outcome measure consisted of one time before and after the intervention. An intensive physical therapy program was applied to this subject. The treatments included reciprocal crawling, high kneeling, tailor sitting, weight-bearing and shifting training to facilitate ankle balance strategies and training to walk without assistance. RESULTS: After the eight-week follow-up, the child achieved a gradual improvement in the gross motor function measures, and the mother reported that the child frequently engaged in tailor sitting and independently walking. CONCLUSION: This case study highlights that intensive physical therapy improved the overall motor function of a child with MECP2 duplication syndrome.

Keywords

Acknowledgement

The author wishes to thank the participant and his family members, especially his mother, for their engagement in this case study.

References

  1. Ramocki M B, Tavyev YJ, Peters SU. The M ECP2 duplication syndrome. Am J Med Genet A. 2010;152A(5):1079-88. https://doi.org/10.1002/ajmg.a.33184
  2. Das SP, Ganesh GS. Evidence-based approach to physical therapy in cerebral palsy. Indian J Orthop. 2019;53(1):20-34. https://doi.org/10.4103/ortho.IJOrtho_241_17
  3. Odman P, Oberg B. Effectiveness of intensive training for children with cerebral palsy: A comparison between child and youth rehabilitation and conductive education. J Rehabil Med. 2005;37(4):263-70. https://doi.org/10.1080/16501970510032622
  4. Trahan J, Malouin F. Intermittent intensive physiotherapy in children with cerebral palsy: a pilot study. Dev Med Child Neurol. 2002;44(4):233-9. https://doi.org/10.1111/j.1469-8749.2002.tb00798.x
  5. World Medical Association. World medical association declaration of helsinki. ethical principles for medical research involving human subjects. Bull World Health Organ. 2001;79(4):373-4. https://doi.org/10.4414/fms.2001.04031
  6. Law M, Darrah J. Emerging therapy approaches: an emphasis on function. J Child Neurol. 2014;29(8):1101-7. https://doi.org/10.1177/0883073814533151
  7. Alotaibi M, Long T, Kennedy E, et al. The efficacy of GMFM-88 and GMFM-66 to detect changes in gross motor function in children with cerebral palsy (CP): a literature review. Disabil Rehabil. 2014;36(8):617-27. https://doi.org/10.3109/09638288.2013.805820
  8. Park EY, Park SY. Comparison of reliability and validity between GMFM-88 and GMFM-66 in children with cerebral palsy. Phys Ther Korea. 2010;17(3):40-7.
  9. Husaini MA, Bahari AB, Husaini JK, et al. Normal motor milestone development for use to promote child care. Paediatr Indones. 2010;50(6):340-6. https://doi.org/10.14238/pi50.6.2010.340-6
  10. Bower E, M ichell D, Burnett M , et al. Randomized controlled trial of physiotherapy in 56 children with cerebral palsy followed for 18 months. Dev Med Child Neurol. 2001;43(1):4-15. https://doi.org/10.1111/j.1469-8749.2001.tb00378.x
  11. Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nat Neurosci. 2012;15(2):176-7.
  12. Westcott SL, Lowes LP, Richardson PK. Evaluation of postural stability in children: current theories and assessment tools. Phys Ther Rehabil. 1997;77(6):629-45. https://doi.org/10.1093/ptj/77.6.629
  13. Menon A, Korner-Bitensky N, Kastner M, et al. Strategies for rehabilitation professionals to move evidence-based knowledge into practice: a systematic review. J Rehabil Med. 2009;41(13):1024-32. https://doi.org/10.2340/16501977-0451
  14. Straus SE, Tetroe J, Graham I. Defining knowledge translation. CMAJ. 2009;181(3-4):165-8. https://doi.org/10.1503/cmaj.081229
  15. Shamir M, Dickstein R, Tirosh E. Intensive intermittent physical therapy in infants with cerebral palsy: a randomized controlled pilot study. Isr Med Assoc J. 2012;14(12):737-41.
  16. Tsorlakis N, Evaggelinou C, Grouios G, et al. Effect of intensive neurodevelopmental treatment in gross motor function of children with cerebral palsy. Dev Med Child Neurol. 2004;46(11):740-5. https://doi.org/10.1111/j.1469-8749.2004.tb00993.x
  17. Toovey RAM, Harvey AR, McGinley JL, et al. Task-specific training for bicycle-riding goals in ambulant children with cerebral palsy: a randomized controlled trial. Dev Med Child Neurol. 2022;64(2):243-52. https://doi.org/10.1111/dmcn.15029
  18. Palisano RJ. The case report, case study, and single subject design. Phys Occup Ther Pediatr. 2007;27(4):1-5. https://doi.org/10.1080/J006v27n04_01
  19. Rison RA, Shepphird JK, Beydoun SR. When to write a neurology case report. J Med Case Rep. 2016;10:92.