1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010; 3: 16.
2.
Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 2018; 13: 50.
3.
Roney JC, Li S, Farfel-Becker T, et al. Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C. Dev Cell 2021; 56: 1452–1468.
4.
Grünert SC, Müllerleile S, De Silva L, et al. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis 2013; 8: 6.
5.
Hood A, Grange DK, Christ SE, et al. Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab 2014; 111: 445–451.
6.
Waisbren SE, Albers S, Amato S, et al. Effects of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003; 290: 2564–2572.
7.
Toledano-Toledano F, Moral de la Rubia J. Factors associated with anxiety in family caregivers of children with chronic diseases. Biopsychosoc Med 2018; 12: 20.
8.
Mengel E, Patterson MC, Chladek M, et al. Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective. Orphanet J Rare Dis 2021; 16: 493.
9.
Kivimäki M, Bartolomucci A, Kawachi I. The multiple roles of life stress in metabolic disorders. Nat Rev Endocrinol 2022; 19: 10–27.
10.
Tejada-Ortigosa EM, Flores-Rojas K, Moreno-Quintana L, et al. Health and Socio-Educational Needs of the Families and Children with Rare Metabolic Diseases: Qualitative Study in a Tertiary Hospital. Anales de Pediatria 2019; 90: 42–50.
11.
Deater-Deckard K. Parenting stress. New Haven (CT): New Haven: Yale University Press; 2008.
12.
Holly LE, Fenley AR, Kritikos TK, et al. Evidence-base update for parenting stress measures in clinical samples. JCCAP 2019; 48: 685–705.
13.
Angelhoff C, Edell-Gustafsson U, Mörelius E. The cortisol response in parents staying with a sick child at hospital. Nurs Open 2019; 6: 620–625.
14.
Juczyński Z, Ogińska-Bulik N. Narzędzia pomiaru stresu i radzenia sobie ze stresem. Warszawa: PTP; 2009 (in Polish).
15.
Sosnowski T, Wrześniewski K, Jaworowska A, et al. STAI. Inwentarz stanu i cechy lęku. Polska adaptacja STAI. Warszawa: PTP; 2011 (in Polish).
16.
Załuski M, Gajdosz M. Skala Założeń Wobec Świata – polska adaptacja i analiza walidacyjna World Assumption Scale. Psychoterapia 2012; 162: 17–31 (in Polish).
17.
Weber SL, Segal S, Packman W. Inborn errors of metabolism: psychosocial challenges and proposed family systems model of intervention. Mol Genet Metab 2012; 105: 537–541.
18.
Brown A, Crowe L, Boneh A, et al. Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. JIMD Rep 2017; 31: 29–36.
19.
Akmese PP, Kayhan N. An investigation of the effect of communication skills of the children with intellectual disability on the anxiety level of their mothers. Univers J Educ Res 2016; 4: 2411–2419.
20.
Fitzgerald J, Gallagher L. Parental stress and adjustment in the context of rare genetic syndromes: A scoping review. J Intellect Disabil 2021; 26: 174462952199537.
21.
Somanadhan S, Larkin PJ. Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS). Orphanet J Rare Dis 2016; 11: 138.
22.
Conijn T, De Roos C, Vreugdenhil HJI, et al. Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial. Orphanet J Rare Dis 2022; 17: 328.
23.
Buoro RS, Nogueira MP. Quality of life and challenges of family members of children with meningonyelocele. Acta Ortop Bras 2020; 28: 291–295.
24.
Olagundoye O, Akhuemokhan V, Alugo M. Towards caring for caregivers: assessing the burden of care and experience of associative stigma among caregivers of patients with chronic mental illnesses at a mental health care facility in Lagos Metropolis, Nigeria. Fam Med Prim Care Rev 2017; 19: 149–155.
25.
Girma A, Ayalew E, Mesafint G. Covid-19 Pandemic-Related Stress and Coping Strategies Among Adults with Chronic Disease in Southwest Ethiopia. Neuropsychiatr Dis Treat 2021; 20: 1551–1561.
26.
Smith S, Tallon M, Clark C, et al. You Never Exhale Fully Because You’re Not Sure What’s NEXT: Parents’ Experiences of Stress Caring for Children with Chronic Conditions. Front Pediatr 2022; 27: 902655.
27.
Dellve L, Samuelsson L, Tallborn A, et al. LRM Stress and well-being among parents of children with rare diseases: a prospective intervention study. J ADv Nurs 2006; 53: 392–402.
28.
Berkelbach van der Sprenkel EE, Nijhof SL, Dalmeijer GW, et al. Psychosocial functioning in adolescents growing up with chronic disease: The Dutch HBSC study. Eur J Pediatr 2022; 181: 763–773.
29.
Knafl K, Knafl GJ, Gallo AM, Angst D Parents’ perceptions of functioning in families having a child with a genetic condition. J Genet Couns 2007; 16: 481–492.
30.
George ES, Kecmanovic M, Meade T, et al. Psychological distress among carers and the moderating effects of social support. BMC Psychiatry 2020; 154.
31.
Park D, Morano C and Savage A. Understanding the role of social support and social support network for depression among informal dementia caregivers: a pilot clinical project on caregivers in NYC. Soc Work Health Care 2021; 60(8–9): 599–613.
32.
Mardhiyah A, Panduragan SL, Mediani HS. Reducing Psychological Impacts on Children with Chronic Disease via Family Empowerment: A Scoping Review. Healthcare 2022; 10: 2034.
