Case Report
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KONJENİTAL SANTRAL HİPOVENTİLASYON SENDROMU VE SEREBRAL PALSİLİ OLGUDA FİZYOTERAPİ VE REHABİLİTASYON PROGRAMININ ETKİSİNİN İNCELENMESİ: BİR OLGU SUNUMU

Year 2024, Volume: 33 Issue: 1, 154 - 159, 01.04.2024

Mustafa Burak Sinem Erturan Bülent Elbasan

https://doi.org/10.34108/eujhs.1340787

Abstract

Konjenital Santral Hipoventilasyon Sendromu, doğumdan itibaren ortaya çıkan ve solunumun otomatik kontrolünü engelleyen nadir bir genetic hastalıktır. Bu çalışmadaki amacımız Konjenital Santral Hipoventilasyon Sendromu ve serebral palsili bir hastaya uygulanan 6 aylık fizik tedavi programının etkinliğini incelemekti. Çalışmaya Konjenital Santral Hipoventilasyon Sendromu tanısı alan ve sonrasında asfiksi nedeniyle serebral palsi gelişen 6 aylık hasta dahil edildi. Olgu yaşadığı ev ortamında 6 ay boyunca haftada 2 gün fizik tedavi programına alındı. Olgu tedavi öncesi ve tedavi sonrası değerlendirildi. Olgumuzda Modifiye Ashworth Skalası, Alberta İnfant Motor Skalası, Hammersmith İnfant Nörolojik Muayenesi, Bebeklerde Duyusal Fonksiyon Testi ve Yüz, Bacaklar, Aktivite, Ağlama, Konsolabilite ölçeği kullanıldı. Olgumuzda tedavi öncesi ve tedavi sonrası skorlar sırasıyla Alberta İnfant Motor Skalası skoru 3-8, Hammersmith İnfant Nörolojik Muayenesi skoru 6-17, Bebeklerde Duyusal Fonksiyon Testi skoru 2-9 ve Yüz, Bacaklar, Aktivite, Ağlama, Konsolabilite ölçeği skoru 8-3 idi. Olgumuzda tedavi öncesi ve sonrası Modifiye Ashworth Skalası skorlarında önemli gelişme oldu. Ayrıca çalışma sonucunda hastanın yoğun bakımda uzun sure kalması sonucu artan ağrı ve hassasiyetin tedaviyle azaldığı kaydedildi. Uygulanan fizyoterapi ve rehabilitasyon programının hastaya nöro-motor ve duyu entegrasyonunun sağlanmasında destek sağladığına ve nadir hastalıklarda fizyo terapinin önemli rolünün altını çizdiğine inanıyoruz.

Keywords

serebral palsi konjenital santral hipoventilasyon sendromu erken müdahale

Supporting Institution

Bulunmamaktadır.

Project Number

Bulunmamaktadır.

References

  • Magalhães J, Madureira N, Medeiros R, et al. Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation. Sleep Breath. 2015;19(1):55-60.doi: 10.1007/s11325-014-0996-7. Epub 2014 May 4.
  • Kasi AS, Li H, Harford KL, et al. Congenital central hypoventilation syndrome: optimizing care with a multidisciplinary approach. J Multidiscip Healthc. 2022;15:455-469. doi:10.2147/JMDH.S284782.
  • Ljubič K, Fister I Jr, Fister I. Congenital central hypoventilation syndrome: a comprehensive review and future challenges. J. Respir Med. 2014;1(1):8-16. doi:10.1155/2014/856149
  • Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management. Rev Mal Respir. 2013;30(8):706-733. doi: 10.1016/j.rmr.2013.03.007. Epub 2013 Jun 4.
  • Trang H, Samuels M, Ceccherini I, et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020;15(1):252. doi:10.1186/s13023-020-01460-2.
  • Goldsmith S, McIntyre S, Blair E, Smithers-Sheedy H, Badawi N, Hansen M. Cerebral Palsy: Epidemiology. In: David D, ed. Neurodevelopmental Pediatrics Genetic and Environmental Influences.1st ed. Switzerland, AG: Springer; 2023:479-495.
  • Charalambous CP. Interrater reliability of a modified Ashworth scale of muscle spasticity. In: Banaszkiewicz P, ed. Classic Papers in Orthopaedics.1st ed. London, GB: Springer; 2014:415-417.
  • Piper MC, Pinnell LE, Darrah J, Maguire T, Byrne PJ. Construction and validation of the Alberta Infant Motor Scale (AIMS). Can J Public Health. 1992;83 Suppl 2:46-50.
  • Romeo DM, Cioni M, Scoto M, Mazzone L, Palermo F, Romeo MG. Neuromotor development in infants with cerebral palsy investigated by the Hammersmith Infant Neurological Examination during the first year of age. Eur J Paediatr Neurol. 2008;12(1):24-31. doi:10.1016/j.ejpn.2007.05.006. Epub 2007 Jul 2.
  • Eeles AL, Spittle AJ, Anderson PJ, et al. Assessments of sensory processing in infants: a systematic review. Dev Med Child Neurol. 2013;55(4):314-326. doi: 10.1111/j.1469-8749.2012.04434.x.Epub 2012 Nov 15.
  • Merkel SI, Voepel-Lewis T, Shayevitz JR, Malviya S. The FLACC: a behavioral scale for scoring postoperative pain in young children. Pediatr Nurs. 1997;23(3):293-297.
  • Elbasan B., Türker D. Serebral Palsi'de Fizyoterapi ve Rehabilitasyon. In: Elbasan B, ed. Pediatrik Fizyoterapi Rehabilitasyon. 2nd ed. İstanbul, TR: İstanbul Tıp Kitabevleri; 2019: 87-118.
  • Rand CM, Carroll MS, Weese-Mayer DE. Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation. Clin Chest Med. 2014;35(3):535-545. doi:10.1016/j.ccm.2014.06.010. Epub 2014 Jul 26.
  • Sandoval RL, Zaconeta CM, Margotto PR, et al. Congenital central hypoventilation syndrome associated with Hirschsprung's disease: case report and literature review. Rev Paul Pediatr. 2016;34(1):374-378. doi:10.1016/j.rpped.2015.10.009. Epub 2016 Jan 6.
  • Van Delft E, Andriessen P, Vaessens CN, Buijs J, Bambang Oetomo S. Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. Eur J Pediatr. 2010;169(7):895-898. doi:10.1007/s00431-009-1112-z. Epub 2009 Dec 2.
  • Lee H, Kim EK, Son DB, et al. The role of regular physical therapy on spasticity in children with cerebral palsy. Ann Rehabil Med. 2019;43(3):289-296. doi:10.5535/arm.2019.43.3.289. Epub 2019 Jun 28.
  • Damiano DL, Longo E. Early intervention evidence for infants with or at risk for cerebral palsy: an overview of systematic reviews. Dev Med Child Neurol. 2021;63(7):771-784. doi:10.1111/dmcn. 14855. Epub 2021 Apr 6.
  • Dirks T, Blauw-Hospers CH, Hulshof LJ, Hadders-Algra M. Differences between the family-centered “COPCA” program and traditional infant physical therapy based on neurodevelopmental treatment principles. Phys Ther. 2011;91(9):1303-1322. doi: 10.2522/ptj.20100207. Epub 2011 Jun 30.
  • Wang LY, Wang YL, Wang ST, Huang CC. Using the Alberta Infant Motor Scale to early identify very low-birth-weight infants with cystic periventricular leukomalacia. Brain Dev. 2013;35(1):32-37. doi: 10.1016/j.braindev.2011.08.012. Epub 2011 Sep 29.
  • Bartlett DJ, Fanning JE. Use of the Alberta Infant Motor Scale to characterize the motor development of infants born preterm at eight months corrected age. Phys Occup Ther Pediatr. 2003;23(4):31-45.
  • Kara OK, Sahin S, Kara K, Arslan M. Neuromotor and sensory development in preterm infants: prospective study. Turk Pediatri Ars. 2020;55(1):46-53. doi:10.14744/TurkPediatriArs.2019.88709.
  • Dusing SC, Tripathi T, Marcinowski EC, Thacker LR, Brown LF, Hendricks-Muñoz KD. Supporting play exploration and early developmental intervention versus usual care to enhance development outcomes during the transition from the neonatal intensive care unit to home: a pilot randomized controlled trial. BMC Pediatr. 2018;18(1):46. doi: 10.1186/s12887-018-1011-4.
  • Dunstan E, Griffiths S. Sensory strategies: Practical support to empower families. New Zealand Journal of Occupational Therapy. 2008;55(1):5-13.
  • Tamanaka FG, Carlini LP, Heiderich TM, et al. Neonatal pain assessment: A Kendall analysis between clinical and visually perceived facial features. Comput Methods Biomech Biomed Eng Imaging Vis. 2023;11(3):331-340. doi:10.1080/21681163. 2022.2044909
  • Williams MD, Lascelles BDX. Early neonatal pain-a review of clinical and experimental implications on painful conditions later in life. Front Pediatr. 2020;8:30. doi: 10.3389/fped.2020.00030.

INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT

Year 2024, Volume: 33 Issue: 1, 154 - 159, 01.04.2024

Mustafa Burak Sinem Erturan Bülent Elbasan

https://doi.org/10.34108/eujhs.1340787

Abstract

Congenital Central Hypoventilation Syndrome is a rare genetic disorder that presents from birth and prevents automatic control of respiration. Our aim in this study was to examine the effectiveness of a 6-month physical therapy program applied to a patient with Congenital Central Hypoventilation Syndrome and cerebral palsy. A 6-month-old patient who was diagnosed with Congenital Central Hypoventilation Syndrome and subsequently developed Cerebral Palsy due to asphyxia was included in the study. The case was enrolled in a physical therapy program for 2 days a week for 6 months in the home environment where they lived. The case was evaluated before and after treatment. In our case, the Modified Ashworth Scale, the Alberta Infant Motor Scale, the Hammersmith Infant Neurological Examination, Test of Sensory Functions in Infants, and the Face, Legs, Activity, Cry, Consol ability scale were used. In our case, pre-treatment and post-treatment scores were as follows, respectively: Alberta Infant Motor Scale score 3-8, Hammersmith Infant Neurological Examination score 6-17, Test of Sensory Functions in Infants score 2-9, and Face, Legs, Activity, Cry, Consol ability scale score 8-3. In our case, there was a significant improvement in Modified Ashworth Scale scores before and after treatment. Additionally, at the conclusion of the study, it was noted that the heightened pain and sensitivity resulting from the patient's extended stay in the intensive care unit reduced with the treatment. We believe that the administered physiotherapy and rehabilitation program offered support to the patient in achieving neuro-motor and sensory integration, underscoring the essential role of physiotherapy in rare diseases.

Keywords

cerebral palsy congenital central hypoventilation syndrome early intervention

Project Number

Bulunmamaktadır.

References

  • Magalhães J, Madureira N, Medeiros R, et al. Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation. Sleep Breath. 2015;19(1):55-60.doi: 10.1007/s11325-014-0996-7. Epub 2014 May 4.
  • Kasi AS, Li H, Harford KL, et al. Congenital central hypoventilation syndrome: optimizing care with a multidisciplinary approach. J Multidiscip Healthc. 2022;15:455-469. doi:10.2147/JMDH.S284782.
  • Ljubič K, Fister I Jr, Fister I. Congenital central hypoventilation syndrome: a comprehensive review and future challenges. J. Respir Med. 2014;1(1):8-16. doi:10.1155/2014/856149
  • Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management. Rev Mal Respir. 2013;30(8):706-733. doi: 10.1016/j.rmr.2013.03.007. Epub 2013 Jun 4.
  • Trang H, Samuels M, Ceccherini I, et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020;15(1):252. doi:10.1186/s13023-020-01460-2.
  • Goldsmith S, McIntyre S, Blair E, Smithers-Sheedy H, Badawi N, Hansen M. Cerebral Palsy: Epidemiology. In: David D, ed. Neurodevelopmental Pediatrics Genetic and Environmental Influences.1st ed. Switzerland, AG: Springer; 2023:479-495.
  • Charalambous CP. Interrater reliability of a modified Ashworth scale of muscle spasticity. In: Banaszkiewicz P, ed. Classic Papers in Orthopaedics.1st ed. London, GB: Springer; 2014:415-417.
  • Piper MC, Pinnell LE, Darrah J, Maguire T, Byrne PJ. Construction and validation of the Alberta Infant Motor Scale (AIMS). Can J Public Health. 1992;83 Suppl 2:46-50.
  • Romeo DM, Cioni M, Scoto M, Mazzone L, Palermo F, Romeo MG. Neuromotor development in infants with cerebral palsy investigated by the Hammersmith Infant Neurological Examination during the first year of age. Eur J Paediatr Neurol. 2008;12(1):24-31. doi:10.1016/j.ejpn.2007.05.006. Epub 2007 Jul 2.
  • Eeles AL, Spittle AJ, Anderson PJ, et al. Assessments of sensory processing in infants: a systematic review. Dev Med Child Neurol. 2013;55(4):314-326. doi: 10.1111/j.1469-8749.2012.04434.x.Epub 2012 Nov 15.
  • Merkel SI, Voepel-Lewis T, Shayevitz JR, Malviya S. The FLACC: a behavioral scale for scoring postoperative pain in young children. Pediatr Nurs. 1997;23(3):293-297.
  • Elbasan B., Türker D. Serebral Palsi'de Fizyoterapi ve Rehabilitasyon. In: Elbasan B, ed. Pediatrik Fizyoterapi Rehabilitasyon. 2nd ed. İstanbul, TR: İstanbul Tıp Kitabevleri; 2019: 87-118.
  • Rand CM, Carroll MS, Weese-Mayer DE. Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation. Clin Chest Med. 2014;35(3):535-545. doi:10.1016/j.ccm.2014.06.010. Epub 2014 Jul 26.
  • Sandoval RL, Zaconeta CM, Margotto PR, et al. Congenital central hypoventilation syndrome associated with Hirschsprung's disease: case report and literature review. Rev Paul Pediatr. 2016;34(1):374-378. doi:10.1016/j.rpped.2015.10.009. Epub 2016 Jan 6.
  • Van Delft E, Andriessen P, Vaessens CN, Buijs J, Bambang Oetomo S. Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. Eur J Pediatr. 2010;169(7):895-898. doi:10.1007/s00431-009-1112-z. Epub 2009 Dec 2.
  • Lee H, Kim EK, Son DB, et al. The role of regular physical therapy on spasticity in children with cerebral palsy. Ann Rehabil Med. 2019;43(3):289-296. doi:10.5535/arm.2019.43.3.289. Epub 2019 Jun 28.
  • Damiano DL, Longo E. Early intervention evidence for infants with or at risk for cerebral palsy: an overview of systematic reviews. Dev Med Child Neurol. 2021;63(7):771-784. doi:10.1111/dmcn. 14855. Epub 2021 Apr 6.
  • Dirks T, Blauw-Hospers CH, Hulshof LJ, Hadders-Algra M. Differences between the family-centered “COPCA” program and traditional infant physical therapy based on neurodevelopmental treatment principles. Phys Ther. 2011;91(9):1303-1322. doi: 10.2522/ptj.20100207. Epub 2011 Jun 30.
  • Wang LY, Wang YL, Wang ST, Huang CC. Using the Alberta Infant Motor Scale to early identify very low-birth-weight infants with cystic periventricular leukomalacia. Brain Dev. 2013;35(1):32-37. doi: 10.1016/j.braindev.2011.08.012. Epub 2011 Sep 29.
  • Bartlett DJ, Fanning JE. Use of the Alberta Infant Motor Scale to characterize the motor development of infants born preterm at eight months corrected age. Phys Occup Ther Pediatr. 2003;23(4):31-45.
  • Kara OK, Sahin S, Kara K, Arslan M. Neuromotor and sensory development in preterm infants: prospective study. Turk Pediatri Ars. 2020;55(1):46-53. doi:10.14744/TurkPediatriArs.2019.88709.
  • Dusing SC, Tripathi T, Marcinowski EC, Thacker LR, Brown LF, Hendricks-Muñoz KD. Supporting play exploration and early developmental intervention versus usual care to enhance development outcomes during the transition from the neonatal intensive care unit to home: a pilot randomized controlled trial. BMC Pediatr. 2018;18(1):46. doi: 10.1186/s12887-018-1011-4.
  • Dunstan E, Griffiths S. Sensory strategies: Practical support to empower families. New Zealand Journal of Occupational Therapy. 2008;55(1):5-13.
  • Tamanaka FG, Carlini LP, Heiderich TM, et al. Neonatal pain assessment: A Kendall analysis between clinical and visually perceived facial features. Comput Methods Biomech Biomed Eng Imaging Vis. 2023;11(3):331-340. doi:10.1080/21681163. 2022.2044909
  • Williams MD, Lascelles BDX. Early neonatal pain-a review of clinical and experimental implications on painful conditions later in life. Front Pediatr. 2020;8:30. doi: 10.3389/fped.2020.00030.
There are 25 citations in total.

Details

Primary Language English
Subjects Physiotherapy
Journal Section Case Reports
Authors

Mustafa Burak 0000-0002-2372-0102

Sinem Erturan 0000-0002-3135-5248

Bülent Elbasan 0000-0001-8714-0214

Project Number Bulunmamaktadır.
Early Pub Date April 2, 2024
Publication Date April 1, 2024
Submission Date August 23, 2023
Published in Issue Year 2024 Volume: 33 Issue: 1

Cite

APA Burak, M., Erturan, S., & Elbasan, B. (2024). INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT. Sağlık Bilimleri Dergisi, 33(1), 154-159. https://doi.org/10.34108/eujhs.1340787
AMA Burak M, Erturan S, Elbasan B. INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT. JHS. April 2024;33(1):154-159. doi:10.34108/eujhs.1340787
Chicago Burak, Mustafa, Sinem Erturan, and Bülent Elbasan. “INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT”. Sağlık Bilimleri Dergisi 33, no. 1 (April 2024): 154-59. https://doi.org/10.34108/eujhs.1340787.
EndNote Burak M, Erturan S, Elbasan B (April 1, 2024) INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT. Sağlık Bilimleri Dergisi 33 1 154–159.
IEEE M. Burak, S. Erturan, and B. Elbasan, “INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT”, JHS, vol. 33, no. 1, pp. 154–159, 2024, doi: 10.34108/eujhs.1340787.
ISNAD Burak, Mustafa et al. “INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT”. Sağlık Bilimleri Dergisi 33/1 (April 2024), 154-159. https://doi.org/10.34108/eujhs.1340787.
JAMA Burak M, Erturan S, Elbasan B. INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT. JHS. 2024;33:154–159.
MLA Burak, Mustafa et al. “INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT”. Sağlık Bilimleri Dergisi, vol. 33, no. 1, 2024, pp. 154-9, doi:10.34108/eujhs.1340787.
Vancouver Burak M, Erturan S, Elbasan B. INVESTIGATION OF THE EFFECT OF A PHYSIOTHERAPY AND REHABILITATION PROGRAM IN A CASE WITH CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND CEREBRAL PALSY: A CASE REPORT. JHS. 2024;33(1):154-9.
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