Caregiver Perspectives on Pain Sensitivity and Pain Experience in Rett Syndrome

References

• Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–11. doi:10.1038/13810.
   PubMed Web of Science ®Google Scholar
• Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S. Global prevalence of Rett syndrome: systematic review and meta-analysis. Syst Rev. 2023;12(1):5. doi:10.1186/s13643-023-02169-6.
   PubMed Web of Science ®Google Scholar
• Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010. doi:10.1002/ana.22124.
   Web of Science ®Google Scholar
• Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001;14(2):171–76. doi:10.1097/00019052-200104000-00006.
   PubMed Web of Science ®Google Scholar
• Cianfaglione R, Clarke A, Kerr M, Hastings RP, Oliver C, Felce D. A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health. Am J Med Genet A. 2015;167(7):1493–500. doi:10.1002/ajmg.a.37027.
   PubMed Web of Science ®Google Scholar
• Glaze DG. Neurophysiology of Rett syndrome. J Child Neurol. 2005;20(9):740–46. doi:10.1177/08830738050200090801.
   PubMed Web of Science ®Google Scholar
• Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. Scoliosis in rett syndrome: progression, comorbidities, and predictors. Pediatr Neurol. 2017;70(1):20–25. doi:10.1016/j.pediatrneurol.2017.01.032.Scoliosis.
   PubMedGoogle Scholar
• Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB. Oral manifestations of rett syndrome - a systematic review. Int J Envir Res Public Health. 2021;18(3):1162. doi:10.3390/ijerph18031162.
   PubMed Web of Science ®Google Scholar
• Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee H-S. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with rett syndrome. J Pediatr Gastroenterol Nutr. 2012;55(3):292–98. doi:10.1097/MPG.0b013e31824b6159.Gastrointestinal.
   PubMed Web of Science ®Google Scholar
• Tascini G, Dell’Isola GB, Mencaroni E, Di Cara G, Striano P, Verrotti A. Sleep disorders in rett syndrome and rett-related disorders: a narrative review. Front Neurol. 2022;13(March):1–13. doi:10.3389/fneur.2022.817195.
   Google Scholar
• Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee H-S, Percy AK. The changing face of survival in rett syndrome and MECP2-related disorders. Pediatr Neurol. 2015;53(5):402–11. doi:10.1016/j.pediatrneurol.2015.06.003.
   PubMed Web of Science ®Google Scholar
• Baldridge KH, Andrasik F. Pain assessment in people with intellectual or developmental disabilities. AJN Am J Nurs. 2010;110(12):28. doi:10.1097/01.NAJ.0000391236.68263.90.
   PubMed Web of Science ®Google Scholar
• Coleman M, Brubaker J, Hunter K, Smith G. Rett syndrome: a survey of North American patients. J Intellect Disabil Res. 1988;32(2):117–24. doi:10.1111/j.1365-2788.1988.tb01397.x.
   Google Scholar
• Hagberg B. Clinical manifestations and stages of rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):61–65. doi:10.1002/mrdd.10020.
   PubMedGoogle Scholar
• Cappuccio G, Bernardo P, Raiano E, Pinelli M, Alagia M, Esposito M, Della Casa R, Strisciuglio P, Brunetti‐Pierri N, Bravaccio C. Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. Acta Paediatr Oslo Nor 1992. 2019;108(1):171–72. doi:10.1111/apa.14576.
   Google Scholar
• Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A. 2010;152A(5):1197–205. doi:10.1002/ajmg.a.33314.
   PubMed Web of Science ®Google Scholar
• Symons FJ, Byiers B, Tervo RC, Beisang A. Parent-reported pain in Rett syndrome. Clin J Pain. 2013. doi:10.1097/AJP.0b013e318274b6bd.
   Web of Science ®Google Scholar
• Barney CC, Feyma T, Beisang A, Symons FJ. Pain experience and expression in Rett syndrome: subjective and objective measurement approaches HHS public access. J Dev Phys Disabil. 2015;27(4):417–29. doi:10.1007/s10882-015-9427-3.
   PubMed Web of Science ®Google Scholar
• Breau LM, Camfield CS, McGrath PJ, Finley GA. The incidence of pain in children with severe cognitive impairments. Arch Pediatr Adolesc Med. 2003;157(12):1219–26. doi:10.1001/archpedi.157.12.1219.
   PubMedGoogle Scholar
• Edelen MO, Saliba D. Correspondence of verbal descriptor and numeric rating scales for pain intensity: an item response theory calibration. J Gerontol Ser A. 2010;65A(7):778–85. doi:10.1093/gerona/glp215.
   Google Scholar
• Palos GR, Mendoza TR, Mobley GM, Cantor SB, Cleeland CS. Asking the community about cutpoints used to describe mild, moderate, and severe pain. J Pain. 2006;7(1):49–56. doi:10.1016/j.jpain.2005.07.012.
   PubMed Web of Science ®Google Scholar
• Tyler EJ, Jensen MP, Engel JM, Schwartz L. The reliability and validity of pain interference measures in persons with cerebral palsy. Arch Phys Med Rehabil. 2002. doi:10.1053/apmr.2002.27466.
   Web of Science ®Google Scholar
• Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev. 2001;23(4):208–11. doi:10.1016/S0387-7604(01)00193-0.
   PubMed Web of Science ®Google Scholar
• Byiers BJ, Tervo RC, Feyma TJ, Symons FJ. Seizures and pain uncertainty associated with parenting stress and Rett syndrome. J Child Neurol. 2014;29(4):526–29. doi:10.1177/0883073812470736.
   PubMed Web of Science ®Google Scholar
• Reddihough D, Leonard H, Jacoby P, Kim R, Epstein A, Murphy N, Reid S, Whitehouse A, Williams K, Downs J, et al. Comorbidities and quality of life in children with intellectual disability. Child Care Health Dev. 2021;47(5):654–66. doi:10.1111/cch.12873.
   PubMed Web of Science ®Google Scholar
• Breau LM, Camfield CS, McGrath PJ, Finley GA. Pain’s impact on adaptive functioning. J Intellect Disabil Res. 2007;51(2):125–34. doi:10.1111/j.1365-2788.2006.00851.x.
   PubMedGoogle Scholar
• Canegallo V, Caprì T, Romano A, Giannatiempo S, Semino M, Fabio RA. Behavioral and physiological indicators of pain in people with communication disorders: a systematic review. Life Span & Disability. 2022;25(1):7–44.
   Web of Science ®Google Scholar
• de Knegt NC, Pieper MJC, Lobbezoo F, Schuengel C, Evenhuis HM, Passchier J, Scherder EJA. Behavioral pain indicators in people with intellectual disabilities: a systematic review. J Pain. 2013;14(9):885–96. doi:10.1016/j.jpain.2013.04.016.
   PubMed Web of Science ®Google Scholar
• Fabio RA, Chiarini L, Canegallo V. Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale. Orphanet J Rare Dis. 2022;17(1):356. doi:10.1186/s13023-022-02519-y.
   PubMed Web of Science ®Google Scholar
• Swiggum M, Grant L. Monitoring procedural pain and distress in a child with rett syndrome: a case report. Pediatr Phys Ther. 2019;31(4):E1. doi:10.1097/PEP.0000000000000651.
   PubMed Web of Science ®Google Scholar
• Martin P. Pain in Rett syndrome: peculiarities in pain processing and expression, liability to pain causing disorders and diseases, and specific aspects of pain assessment. Adv Autism. 2017;3(3):163–82. doi:10.1108/AIA-02-2017-0003.
   Google Scholar
• Manners MT, Tian Y, Zhou Z, Ajit SK. MicroRNAs downregulated in neuropathic pain regulate MeCP2 and BDNF related to pain sensitivity. FEBS Open Bio. 2015;5:733–40. doi:10.1016/j.fob.2015.08.010.
   PubMed Web of Science ®Google Scholar
• Tao W, Chen C, Wang Y, Zhou W, Jin Y, Mao Y, Wang H, Wang L, Xie W, Zhang X, et al. MeCP2 mediates transgenerational transmission of chronic pain. Prog Neurobiol. 2020;189: Published online 2020:101790. doi:10.1016/j.pneurobio.2020.101790.
   PubMed Web of Science ®Google Scholar
• Mykins M, Layo-Carris D, Dunn LR, Skinner DW, McBryar AH, Perez S, Shultz TR, Willems A, Lau BY, Hong T. Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrom. 2022. doi:10.1101/2022.04.25.482695.
   Google Scholar
• Chen Y, Yu J, Niu Y, Qin D, Liu H, Li G, Hu Y, Wang J, Lu Y, Kang Y, et al. Modeling rett syndrome using TALEN-edited MECP2 mutant cynomolgus monkeys. Cell. 2017;169(5):945–955.e10. doi:10.1016/j.cell.2017.04.035.
   PubMed Web of Science ®Google Scholar
• Leong WY, Lim ZH, Korzh V, Pietri T, Goh ELK. Methyl-CpG Binding Protein 2 (Mecp2) regulates sensory function through Sema5b and Robo2. Front Cell Neurosci. 2015;9. [accessed 2023 May 11]. https://www.frontiersin.org/articles/10.3389/fncel.2015.00481.
   Web of Science ®Google Scholar
• O’Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE. Detecting autonomic response to pain in Rett syndrome. Dev Neurorehabil. 2017;20(2):108–14. doi:10.3109/17518423.2015.1087437.
   PubMed Web of Science ®Google Scholar
• Campbell L, DiLorenzo M, Atkinson N, Riddell RP. Systematic review: a systematic review of the interrelationships among children’s coping responses, children’s coping outcomes, and parent cognitive-affective, behavioral, and contextual variables in the needle-related procedures context. J Pediatr Psychol. 2017;42(6):611–21. doi:10.1093/jpepsy/jsx054.
   PubMed Web of Science ®Google Scholar
• Evans S, Tsao JC, Lu Q, Myers C, Suresh J, Zeltzer LK. Parent-child pain relationships from a psychosocial perspective: a review of the literature. J Pain Manag. 2008;1:237.
   PubMedGoogle Scholar
• Donnelly TJ, Palermo TM, Newton-John TRO. Parent cognitive, behavioural, and affective factors and their relation to child pain and functioning in pediatric chronic pain: a systematic review and meta-analysis. PAIN. 2020;161(7):1401–19. doi:10.1097/j.pain.0000000000001833.
   PubMed Web of Science ®Google Scholar
• Hadjistavropoulos T, Craig KD, Duck S, Cano A, Goubert L, Jackson PL, Mogil JS, Rainville P, Sullivan MJL, Williams ACDC, et al. A biopsychosocial formulation of pain communication. Psychol Bull. 2011;137(6):910. doi:10.1037/a0023876.
   PubMed Web of Science ®Google Scholar