Case Report
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UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT

Year 2022, Volume: 33 Issue: 3, 227 - 231, 20.12.2022
https://doi.org/10.21653/tjpr.1024831

Abstract

Purpose: Due to the nature of the phenylketonuria (PKU), it is difficult to categorize these patients' needs in a treatment management. The aim of this study was to evaluate an untreated geriatric PKU patient based on International Classification of Functioning, Disability and Health (ICF).
Method: The 72-year-old patient was presented with late-diagnosed and untreated PKU during his lifetime. The body structure and functions of the patient were determined by the Tinetti Scale, Sit-up test for 30-second, The Upper Extremity Index, Barthel Daily Life Activity Scale, Short Form- 36 Quality of Life scales were used to determine activities and limitations. Functional Ambulation Scale and Barthel Index were used for assessing participation.
Results: In this case, physical disabilities caused problems in his self-care and participation in life accompanying with cognitive problems, environmental and personal factors are negatively affecting his quality of life.
Conclusion: Many aspects of the geriatric PKU's participation in life and the parameters that need to be evaluated remain uncertain. For this reason, we suggest that healthcare professionals working with individuals with geriatric PKU patients might follow the ICF qualifiers and assessment methods as in this case report.

References

  • 1. ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, Wijburg FA, Hollak CE, Bosch AM. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis. 2011; 34(1):165-71.
  • 2. Trefz F, Maillot F, Motzfeldt K, Schwarz M. Adult phenylketonuria outcome and management. Mol Genet Metab. 2011;104:S26-30.
  • 3. Hamilton CB, Chesworth BM. A Rasch-validated version of the upper extremity functional index for interval-level measurement of upper extremity function. Phys Ther. 2013;93(11):1507-19.
  • 4. Bouwstra H, Smit EB, Wattel EM, van der Wouden JC, Hertogh CMPM, Terluin B, Terwee CB. Measurement Properties of the Barthel Index in Geriatric Rehabilitation. J Am Med Dir Assoc. 2019;20(4):420-25.e1.
  • 5. Silva ADM, Furtado G, Dos Santos IP, da Silva CB, Caldas LR, Bernardes KO, Ferraz DD. Functional capacity of elderly with lower-limb amputation after prosthesis rehabilitation: a longitudinal study. Disabil Rehabil Assist Technol. 2021;16(5):556-60.
  • 6. Gümüş E, Arslan İ, Tekin O, Fidancı İ, Eren ŞÜ et al. Kendi evi ve huzurevinde yaşayan yaşlılarda, denge ve yürüme skorları ile düşme riskinin karşılaştırılması. Ankara Med J. 2017; 2:102-10.
  • 7. Lærum-Onsager E, Brovold T, Bergland A, Pripp AH, Bye A. Associations between health-related quality of life, body mass index, health status and sociodemographic variables in geriatric patients and non-hospitalized older people: A comparative cross-sectional study. Nutr Health. 2020;26(2):141-150.
  • 8. v von Glischinski M, von Brachel R, Hirschfeld G. How depressed is "depressed"? A systematic review and diagnostic meta-analysis of optimal cut points for the Beck Depression Inventory revised (BDI-II). Qual Life Res. 2019;28(5):1111-8.
  • 9. Parlar Kılıç S, Karadağ G, Koçak HS, Korhan EA. Investigation of the old age perceptions with the loneliness and depression levels of the elderly living at home. Turk Geriatri Derg. 2014;17(1):70-6.
  • 10. Püllüm E, Sökmen ÜN, Çevik Akyıl R, Ongun G, Özdemir Cihangir H. Aydın Huzurevinde düşme riski taşıyan yaşlıların belirlenmesi: tanımlayıcı çalışma. İzmir Kâtip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Derg. 2018; 3(2):9-14.
  • 11. Ibrahim A, Singh DKA, Shahar S. 'Timed Up and Go' test: Age, gender and cognitive impairment stratified normative values of older adults. PLoS One. 2017;12(10):e0185641.
  • 12. Demiral Y, Ergor G, Unal B, Semin S, Akvardar Y, Kivircik B, Alptekin K. Normative data and discriminative properties of short form 36 (SF-36) in Turkish urban population. BMC Public Health. 2006;6:247.
  • 13. Mazur A, Jarochowicz S, Ołtarzewski M, Sykut-Cegielska J, Kwolek A, O'Malley G. Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria. Acta Biochim Pol. 2009;56(4):613-8.
  • 14. Bingöl H, Günel MK. Functional Status in a Teenager with Phenylketonuria from the ICF Perspective. J Child Sci. 2017;7:14-8.
  • 15. Romani C, Palermo L, MacDonald A, Limback E, Hall SK, Geberhiwot T. The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages. Neuropsychology. 2017;31(3):242-54.

GECİKMİŞ TANI İLE TEDAVİ EDİLMEYEN GERİATRİK FENİLKETONÜRİ: ICF TEMELLİ BİR VAKA RAPORU

Year 2022, Volume: 33 Issue: 3, 227 - 231, 20.12.2022
https://doi.org/10.21653/tjpr.1024831

Abstract

Amaç: Fenilketonüri (PKU) hastalığının doğası gereği, bu hastaların tedavi ve ölçüm seçeneklerini belirli bir şekilde kategorize etmek zordur. Bu çalışmanın amacı, tedavi edilmemiş geriatrik fenilketonüri hastasını Uluslararası İşlevsellik, Yetiyitimi ve Sağlık Sınıflandırmasına (ICF) göre değerlendirmektir.
Yöntem: Yaşamı boyunca spesifik tedavi görmemiş yetmiş iki yaşındaki bir fenilketonüri hastası sunulmaktadır. Hastanın vücut yapısı ve fonksiyonları Tinetti Skalası ve 30 saniyelik otur-kalk testi ile belirlendi. Aktiviteleri ve kısıtlamaları belirlemek için Üst Ekstremite İndeksi, Barthel Günlük Yaşam Aktivite Ölçeği, Kısa Form-36 Yaşam Kalitesi ölçekleri kullanıldı. Katılım için Fonksiyonel Ambulasyon Skalası ve Barthel İndeksi kullanıldı.
Sonuçlar: Bu vakada fiziksel engellilik öz bakımında sorunlara neden olmakta ve bilişsel sorunlar eşliğinde hayata katılımı, çevresel ve kişisel faktörler yaşam kalitesini olumsuz etkilemektedir.
Tartışma: Geriatrik fenilketonürinin hayata katılımının birçok yönü ve değerlendirilmesi gereken parametreler belirsizliğini korumaktadır. Bu nedenle, literature fenilketonüri hastası olan bireylerle çalışan sağlık çalışanlarının bu vaka raporunda olduğu gibi ICF niteleyicileri ve değerlendirme yöntemlerini takip etmelerini öneriyoruz.

References

  • 1. ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, Wijburg FA, Hollak CE, Bosch AM. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis. 2011; 34(1):165-71.
  • 2. Trefz F, Maillot F, Motzfeldt K, Schwarz M. Adult phenylketonuria outcome and management. Mol Genet Metab. 2011;104:S26-30.
  • 3. Hamilton CB, Chesworth BM. A Rasch-validated version of the upper extremity functional index for interval-level measurement of upper extremity function. Phys Ther. 2013;93(11):1507-19.
  • 4. Bouwstra H, Smit EB, Wattel EM, van der Wouden JC, Hertogh CMPM, Terluin B, Terwee CB. Measurement Properties of the Barthel Index in Geriatric Rehabilitation. J Am Med Dir Assoc. 2019;20(4):420-25.e1.
  • 5. Silva ADM, Furtado G, Dos Santos IP, da Silva CB, Caldas LR, Bernardes KO, Ferraz DD. Functional capacity of elderly with lower-limb amputation after prosthesis rehabilitation: a longitudinal study. Disabil Rehabil Assist Technol. 2021;16(5):556-60.
  • 6. Gümüş E, Arslan İ, Tekin O, Fidancı İ, Eren ŞÜ et al. Kendi evi ve huzurevinde yaşayan yaşlılarda, denge ve yürüme skorları ile düşme riskinin karşılaştırılması. Ankara Med J. 2017; 2:102-10.
  • 7. Lærum-Onsager E, Brovold T, Bergland A, Pripp AH, Bye A. Associations between health-related quality of life, body mass index, health status and sociodemographic variables in geriatric patients and non-hospitalized older people: A comparative cross-sectional study. Nutr Health. 2020;26(2):141-150.
  • 8. v von Glischinski M, von Brachel R, Hirschfeld G. How depressed is "depressed"? A systematic review and diagnostic meta-analysis of optimal cut points for the Beck Depression Inventory revised (BDI-II). Qual Life Res. 2019;28(5):1111-8.
  • 9. Parlar Kılıç S, Karadağ G, Koçak HS, Korhan EA. Investigation of the old age perceptions with the loneliness and depression levels of the elderly living at home. Turk Geriatri Derg. 2014;17(1):70-6.
  • 10. Püllüm E, Sökmen ÜN, Çevik Akyıl R, Ongun G, Özdemir Cihangir H. Aydın Huzurevinde düşme riski taşıyan yaşlıların belirlenmesi: tanımlayıcı çalışma. İzmir Kâtip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Derg. 2018; 3(2):9-14.
  • 11. Ibrahim A, Singh DKA, Shahar S. 'Timed Up and Go' test: Age, gender and cognitive impairment stratified normative values of older adults. PLoS One. 2017;12(10):e0185641.
  • 12. Demiral Y, Ergor G, Unal B, Semin S, Akvardar Y, Kivircik B, Alptekin K. Normative data and discriminative properties of short form 36 (SF-36) in Turkish urban population. BMC Public Health. 2006;6:247.
  • 13. Mazur A, Jarochowicz S, Ołtarzewski M, Sykut-Cegielska J, Kwolek A, O'Malley G. Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria. Acta Biochim Pol. 2009;56(4):613-8.
  • 14. Bingöl H, Günel MK. Functional Status in a Teenager with Phenylketonuria from the ICF Perspective. J Child Sci. 2017;7:14-8.
  • 15. Romani C, Palermo L, MacDonald A, Limback E, Hall SK, Geberhiwot T. The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages. Neuropsychology. 2017;31(3):242-54.
There are 15 citations in total.

Details

Primary Language English
Subjects Rehabilitation, Health Care Administration
Journal Section Araştırma Makaleleri
Authors

Ferhat Öztürk 0000-0003-4070-8831

Gizem İrem Kınıklı 0000-0003-1013-6393

Mintaze Kerem Günel 0000-0003-4942-5272

İmran Özalp 0000-0002-8767-4723

Publication Date December 20, 2022
Published in Issue Year 2022 Volume: 33 Issue: 3

Cite

APA Öztürk, F., Kınıklı, G. İ., Kerem Günel, M., Özalp, İ. (2022). UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT. Türk Fizyoterapi Ve Rehabilitasyon Dergisi, 33(3), 227-231. https://doi.org/10.21653/tjpr.1024831
AMA Öztürk F, Kınıklı Gİ, Kerem Günel M, Özalp İ. UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT. Turk J Physiother Rehabil. December 2022;33(3):227-231. doi:10.21653/tjpr.1024831
Chicago Öztürk, Ferhat, Gizem İrem Kınıklı, Mintaze Kerem Günel, and İmran Özalp. “UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT”. Türk Fizyoterapi Ve Rehabilitasyon Dergisi 33, no. 3 (December 2022): 227-31. https://doi.org/10.21653/tjpr.1024831.
EndNote Öztürk F, Kınıklı Gİ, Kerem Günel M, Özalp İ (December 1, 2022) UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT. Türk Fizyoterapi ve Rehabilitasyon Dergisi 33 3 227–231.
IEEE F. Öztürk, G. İ. Kınıklı, M. Kerem Günel, and İ. Özalp, “UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT”, Turk J Physiother Rehabil, vol. 33, no. 3, pp. 227–231, 2022, doi: 10.21653/tjpr.1024831.
ISNAD Öztürk, Ferhat et al. “UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT”. Türk Fizyoterapi ve Rehabilitasyon Dergisi 33/3 (December 2022), 227-231. https://doi.org/10.21653/tjpr.1024831.
JAMA Öztürk F, Kınıklı Gİ, Kerem Günel M, Özalp İ. UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT. Turk J Physiother Rehabil. 2022;33:227–231.
MLA Öztürk, Ferhat et al. “UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT”. Türk Fizyoterapi Ve Rehabilitasyon Dergisi, vol. 33, no. 3, 2022, pp. 227-31, doi:10.21653/tjpr.1024831.
Vancouver Öztürk F, Kınıklı Gİ, Kerem Günel M, Özalp İ. UNTREATED GERIATRIC PHENYLKETONURIA WITH DELAYED DIAGNOSIS: AN ICF-BASED CASE REPORT. Turk J Physiother Rehabil. 2022;33(3):227-31.