Aitkenhead L, Krishna G, Ellerton C, Moinuddin M, Matcham J, Shiel L, Hossain S, Kiffin M, Foley J, Skeath R, Cleary M, Lachmann R, Murphy E (2021) Long-term cognitive and psychosocial outcomes in adults with phenylketonuria. J Inherit Metab Dis 44(6):1353–1368. https://doi.org/10.1002/jimd.12413

Article  CAS  PubMed  Google Scholar 

Baucom KJ, Giresi J, Heyman RE, Slep AMS (2020) Associations between self-rated physical health and relationship satisfaction in couples with children. Health Psychol Open 7(2):2055102920959527. https://doi.org/10.1177/2055102920959527

Article  PubMed  PubMed Central  Google Scholar 

Bik-Multanowski M, Didycz B, Mozrzymas R, Nowacka M, Kaluzny L, Cichy W, Schneiberg B, Amilkiewicz J, Bilar A, Gizewska M, Lange A, Starostecka E, Chrobot A, Wojcicka-Bartlomiejczyk BI, Milanowski A (2008) Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis 31(Suppl 2):S415-418. https://doi.org/10.1007/s10545-008-0978-7

Article  PubMed  Google Scholar 

Bilder DA, Burton BK, Coon H, Leviton L, Ashworth J, Lundy BD, Vespa H, Bakian AV, Longo N (2013) Psychiatric symptoms in adults with phenylketonuria. Mol Genet Metab 108(3):155–160. https://doi.org/10.1016/j.ymgme.2012.12.006

Article  CAS  PubMed  Google Scholar 

Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA (2007) The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis 30(1):29–34. https://doi.org/10.1007/s10545-006-0433-6

Article  CAS  PubMed  Google Scholar 

Downward P, Rasciute S, Kumar H (2022) Mental health and satisfaction with partners: a longitudinal analysis in the UK. BMC Psychol 10(1):15. https://doi.org/10.1186/s40359-022-00723-w

Article  PubMed  PubMed Central  Google Scholar 

Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E (2010) Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab 101(2–3):99–109. https://doi.org/10.1016/j.ymgme.2010.05.017

Article  CAS  PubMed  Google Scholar 

Estecha Querol S, Clarke P, Sattler ELP, Halford JCG, Gabbay M (2020) Non-visible disease, the hidden disruptive experiences of chronic illness in adversity. Int J Qual Stud Health Well-Being 15(1):1857579. https://doi.org/10.1080/17482631.2020.1857579

Article  PubMed  PubMed Central  Google Scholar 

Ford S, O’Driscoll M, MacDonald A (2018) Living with phenylketonuria: lessons from the PKU community. Mol Genet Metab Rep 17:57–63. https://doi.org/10.1016/j.ymgmr.2018.10.002

Article  PubMed  PubMed Central  Google Scholar 

Gentile JK, Ten Hoedt AE, Bosch AM (2010) Psychosocial aspects of PKU: hidden disabilities–a review. Mol Genet Metab 99(Suppl 1):S64-67. https://doi.org/10.1016/j.ymgme.2009.10.183

Article  CAS  PubMed  Google Scholar 

Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG (2009) Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 42(2):377–381. https://doi.org/10.1016/j.jbi.2008.08.010

Article  PubMed  Google Scholar 

Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O’Neal L, McLeod L, Delacqua G, Delacqua F, Kirby J, Duda SN, REDCap Consortium (2019) The REDCap consortium: Building an international community of software platform partners. J Biomed Inform 95103208. https://doi.org/10.1016/j.jbi.2019.103208

Hendrick SS (1988) A generic measure of relationship satisfaction. J Marriage Fam 50(1):93–98. https://doi.org/10.2307/352430

Article  Google Scholar 

Hendrick SS, Dicke A, Hendrick C (1998) The Relationship Assessment Scale. J Soc Pers Relat 15(1):137–142. https://doi.org/10.1177/0265407598151009

Article  Google Scholar 

Ipsiroglu OS, Herle M, Spoula E, Möslinger D, Wimmer B, Burgard P, Bode H, Stöckler-Ipsiroglu S (2005) Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien Klin Wochenschr 117(15):541–547. https://doi.org/10.1007/s00508-005-0327-x

Article  PubMed  Google Scholar 

Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers M, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ (2016) Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. J Inherit Metab Dis 39(3):355–362. https://doi.org/10.1007/s10545-016-9918-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Legemaat AM, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers M, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ (2017) Cognitive profile and mental health in adult phenylketonuria: a PKU-COBESO study. Neuropsychology 31(4):437–447. https://doi.org/10.1037/neu0000358

Article  PubMed  Google Scholar 

Joung IM, van de Mheen HD, Stronks K, van Poppel FW, Mackenbach JP (1998) A longitudinal study of health selection in marital transitions. Soc Sci Med 46(3):425–435. https://doi.org/10.1016/s0277-9536(97)00186-x

Article  CAS  PubMed  Google Scholar 

Lantagne A, Furman W (2017) Romantic relationship development: the interplay between age and relationship length. Dev Psychol 53(9):1738–1749. https://doi.org/10.1037/dev0000363

Article  PubMed  PubMed Central  Google Scholar 

MacDonald A, Gokmen-Ozel H, van Rijn M, Burgard P (2010) The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis 33(6):665–670. https://doi.org/10.1007/s10545-010-9073-y

Article  PubMed  Google Scholar 

Marcus DA, Richards KL, Chambers JF, Bhowmick A (2013) Fibromyalgia family and relationship impact exploratory survey. Musculoskeletal Care 11(3):125–134. https://doi.org/10.1002/msc.1039

Article  PubMed  Google Scholar 

Milrad SF, Hall DL, Jutagir DR, Lattie EG, Czaja SJ, Perdomo DM, Ironson G, Doss BD, Mendez A, Fletcher MA, Klimas N, Antoni MH (2019) Relationship satisfaction, communication self-efficacy, and chronic fatigue syndrome-related fatigue. Soc Sci Med 237:112392. https://doi.org/10.1016/j.socscimed.2019.112392

Article  PubMed  PubMed Central  Google Scholar 

Pietz J, Fätkenheuer B, Burgard P, Armbruster M, Esser G, Schmidt H (1997) Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics 99(3):345–350. https://doi.org/10.1542/peds.99.3.345

Article  CAS  PubMed  Google Scholar 

Pinquart M, Sörensen S (2011) Spouses, adult children, and children-in-law as caregivers of older adults: a meta-analytic comparison. Psychol Aging 26(1):1–14. https://doi.org/10.1037/a0021863

Article  PubMed  PubMed Central  Google Scholar 

Quinn J, Georgiadis A, Lewis HB, Jurecki E (2022) Measuring burden of illness in phenylketonuria (PKU): development of the PKU Symptom Severity and Impacts Scale as a robust patient-reported outcome. Adv Ther 39(2):971–991. https://doi.org/10.1007/s12325-021-01986-2

Article  PubMed  Google Scholar 

Robles TF, Slatcher RB, Trombello JM, McGinn MM (2014) Marital quality and health: a meta-analytic review. Psychol Bull 140(1):140–187. https://doi.org/10.1037/a0031859

Article  PubMed  Google Scholar 

Røsand G-MB, Slinning K, Eberhard-Gran M, Røysamb E, Tambs K (2012) The buffering effect of relationship satisfaction on emotional distress in couples. BMC Public Health 12(1):66. https://doi.org/10.1186/1471-2458-12-66

Article  PubMed  PubMed Central  Google Scholar 

Rose AM, Grosse SD, Garcia SP, Bach J, Kleyn M, Simon NE, Prosser LA (2019) The financial and time burden associated with phenylketonuria treatment in the United States. Mol Genet Metab Rep 21:100523. https://doi.org/10.1016/j.ymgmr.2019.100523

Article  PubMed  PubMed Central  Google Scholar 

Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, Kamp G, Wendel U (2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 6:25. https://doi.org/10.1186/1477-7525-6-25

Article  PubMed  PubMed Central  Google Scholar 

Stephens MA, Franks MM, Rook KS, Iida M, Hemphill RC, Salem JK (2013) Spouses’ attempts to regulate day-to-day dietary adherence among patients with type 2 diabetes. Health Psychol 32(10):1029–1037. https://doi.org/10.1037/a0030018

Article  PubMed  Google Scholar 

ten Hoedt AE, de Sonneville LMJ, Francois B, ter Horst NM, Janssen MCH, Rubio-Gozalbo ME, Wijburg FA, Hollak CEM, Bosch AM (2011) 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 34(1):165–171. https://doi.org/10.1007/s10545-010-9253-9

Article  CAS  PubMed  Google Scholar 

Vieira EN, Maia HSF, Monteiro CB, Carvalho LM, Tonon T, Vanz AP, Schwartz IVD, Ribeiro MG (2017) Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients. Braz J Med Biol Res 51(2):e6709. https://doi.org/10.1590/1414-431x20176709

Article  PubMed  Google Scholar 

Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA (2014) Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 16(2):188–200. https://doi.org/10.1038/gim.2013.157

Article  CAS  PubMed  Google Scholar 

Wilson SE, Waddoups SL (2002) Good marriages gone bad: health mismatches as a cause of later-life marital dissolution. Popul Res Policy Rev 21:505–533

Article  Google Scholar 

Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N (2008) Molecular gen