Table 2.
Articles included in the review
| Title | Study design | Publication year | Disease (s) coded during thematic analysis | Type of carers | Relationship to patient (%) | Number of carers | Age | Countries | Concepts |
|---|---|---|---|---|---|---|---|---|---|
| Health state preference scores of children with spina bifida and their caregivers | Quantitative cross-sectional | 2005 | Spina bifida | Parents Grandparents | Mother (96%) Father/Grandmother (4%) | 98 |
Mean (range): 37.7 (24–70) |
NR | Well-being |
| Caring for the carers: quality of life in Huntington’s disease | Literature review | 2005 | Huntington’s disease | N/A | N/A | N/A | N/A | N/A |
Practical Support Systems Well-being |
| The main problems of parents of a child with epidermolysis bullosa | Qualitative | 2008 |
DDEB EBS EBS-DM EBS-K EBS-WC JEB-nH RDEB RDEB-mut |
Parents |
Mother (64.7%) Father (35.3%) |
17 | NR | Netherlands |
Information Practical Social/Community Well-being |
| Quality of life in patients with epidermolysis bullosa | Quantitative cross-sectional | 2009 |
DDEB, generalised DDEB, other subtypes EBS-DM EBS, localised EBS, other subtypes JEB-nH, generalised KS RDEB, generalised other RDEB, other subtypes RDEB, severe generalised |
N/R | N/R | 125 | N/R | N/R |
Social/Community Well-being |
| Family burden in epidermolysis bullosa is high independent of disease type/subtype | Quantitative cross-sectional | 2010 |
DDEB, generalised EBS-DM EBS, localised EBS, other subtypes JEB n–H, generalised RDEB, generalised other RDEB, other subtypes RDEB, severe generalised |
Parents |
Mother (82.1%) Father (17.9%) |
28 |
Mean: 34.4 |
Italy |
Disease Severity Faith Information Practical Social/Community, Support Systems Well-being |
| Factors affecting quality of life in epidermolysis bullosa | Literature review | 2010 |
DDEB EBS JEB RDEB |
Parents | NR | NR | NR | NR |
Information Practical Social/Community Well-being |
| Caregiver’s burden and quality of life in mitochondrial disease | Quantitative cross-sectional | 2010 | Complex I defect | Parents | Mother (100%) | 33 |
Mean (range): 37.72 (29–55) |
Korea |
Information Practical Well-being |
| The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea | Quantitativecross-sectional | 2012 | Sickle cell anaemia | Parents |
Mothers (81.1%) Fathers (18.9%) |
37 |
Mean (range): 42.95 (18–69) |
Brazil |
Practical Well-being |
| Assessment of quality of life of parents of children with osteogenesis imperfecta | Quantitative cross-sectional | 2012 | Osteogenesis imperfecta types I, III, and IV | Parents |
Mother (NR) Father (NR) |
25 |
Mothers, mean: 34.3 Fathers, mean: 38.1 |
Poland |
Disease Severity Practical Social/Community Support Systems |
| The experience of being a female carrier of haemophilia and the mother of a haemophilic child | Qualitative | 2013 |
Haemophilia A Haemophilia B |
Parents | Mothers (100%) | 13 |
Mean (range): 44 (28–83) |
Sweden |
Being a Carrier of Rare Disease Carer Perceptions Information Practical Social/Community Support Systems Quest for Knowledge Well-being |
| Understanding the experience of caring for children with haemophilia: cross-sectional study of caregivers in the United States | Quantitative cross-sectional | 2014 |
Haemophilia A Haemophilia B |
Parents Other relatives |
Mothers (88.39%) Fathers (10.3%) Grandparents or siblings (1.3%) |
310 |
Age Category: mean (%) 18–34: 76 (24.5%) 35–44: 148 (47.7) 45–54: 82(26.5) 55–64: 4(1.3) |
US |
Disease Severity Practical Well-being |
|
Shaping and managing the course of a child’s disease: parental experiences with osteogenesis imperfecta |
Qualitative | 2014 | Osteogenesis imperfecta | Parents |
Mothers (70.83%) Fathers (29.17%) |
48 | NR | Canada, US, Latin America, Europe |
Acceptance Being a Carrier of Rare Disease Carer Perceptions Information Practical Social/Community Well-being |
|
Parents of children with haemophilia at an early age: assessment of perceived stress and family functioning |
Quantitative cross-sectional | 2014 |
Haemophilia A Haemophilia B |
Parents |
Mothers (53%) Fathers (47%) |
49 |
Mean: 38.86 |
Spain |
Practical Well-being |
| Haemophilia Experiences, Results and Opportunities (HERO) Study: influence of haemophilia on interpersonal relationships as reported by adults with haemophilia and parents of children with haemophilia | Quantitative cross-sectional | 2014 |
Haemophilia A Haemophilia B |
Parents |
Mothers (75.58) Fathers (24.42%) |
561 | NR |
Algeria, Argentina, Canada, China, France Germany, Italy, Spain, UK, US |
Being a Carrier of Rare Disease Information Social/Community Support Systems Well-being |
| Difficulties experienced by caregivers of patients diagnosed with osteogenesis imperfecta (OI): example of a hospital | Mixed-methods | 2015 | Osteogenesis imperfecta | Parents |
Mothers (93.5%) Fathers (6.5%) |
46 |
Mean: 35.52 |
Turkey |
Carer Perceptions Faith Information Practical Quest for Knowledge Social/Community Support Networks Well-being |
| Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel–Lindau disease | Mixed-methods | 2015 | Von Hippel–Lindau disease |
Parents Partners |
Mothers (62.5%) Fathers (12.5%) Partners (37.5%) |
8 |
Mean (range): 57 (37–75) |
Australia |
Information Practical Social/Community Support Systems Well-being |
| Parenting a child with haemophilia while living in a non-metropolitan area | Qualitative | 2015 |
Haemophilia A Haemophilia B |
Parents |
Mothers (85.7%) Fathers (14.3%) |
7 |
Range: 25–48 |
Australia |
Acceptance Being a Carrier of Rare Disease Carer Perceptions Information Practical Quest for Knowledge Social/Community Support Systems Well-being |
| Mucopolysaccharidosis: caregiver quality of life | Quantitative cross-sectional | 2015 |
MPS-I MPS-II MPS-III MPS-IV MPS-VI |
Parents | Mothers (100%) | 11 |
Mean (range): 35 (29–43) |
Brazil |
Practical Social/Community Well-being |
| A tortuous route to a capable fatherhood: the experience of being a father to a child with severe haemophilia | Qualitative | 2015 | Haemophilia A | Parents | Fathers (100%) | 14 |
Mean (range): 43.5 (28–57) |
Sweden |
Acceptance Carer Perceptions Gratitude and Hope Information Practical Social/Community Well-being |
| Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe | Quantitative cross-sectional | 2016 |
MPS-II (Hunter syndrome) MPS-I-H/S (Hurler–Scheie syndrome) MPS-I-H (Hurler syndrome) MPS- VI (Maroteaux–Lamy syndrome) MPS-IV, subtypes A and B (Morquio syndrome) MPS- III, subtypes A, B, C, and D (Sanfilippo syndrome) MPS-I-S (Scheie syndrome) MPS- VII (Sly syndrome) |
Parents Partners |
Mothers (98.5%) Partners (1.5%) |
66 |
Mean: 39.6 |
Italy, Spain, Germany, France, Hungary, Sweden, Bulgaria | Practical |
| Parents’ experiences of living with, and caring for children, adolescents and young adults with mucopolysaccharidosis (MPS) | Qualitative | 2016 |
MPS-I (Hurler syndrome, Scheie syndrome) MPS-II (Hunter syndrome) MPS-III (Sanfilipo syndrome) MPS-VI (Maroteaux–Lamy syndrome) |
Parents | NR | 8 | NR | Ireland |
Acceptance Carer Perceptions Gratitude and Hope Information Practical Social/Community Well-being |
| Experiences of caregivers of children with inherited metabolic diseases: a qualitative study | Qualitative | 2016 |
Carnitine uptake defect Citrin deficiency Galactosemia Glutaric acidemia type I Glycogen storage disease type 1 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Maple syrup urine disease Medium chain acyl-CoA dehydrogenase deficiency MPS-I Ornithine transcarbamylase deficiency Phenylalanine hydroxylase deficiency Tyrosinemia type I |
Parents Grandparents |
Mothers (85.7%) Fathers/Grandfathers (14.3%) |
21 | NR | Canada |
Acceptance Carer Perceptions Establish a Routine Information Practical Support Systems Well-being |
| Difficulties in daily life and associated factors, and QoL of children with inherited metabolic disease and their parents in Japan: a literature review | Literature review | 2016 |
AA CD HM IEM IMD MPS MSUD PA PKU |
Parents |
Mothers (NR) Fathers (NR) |
NA | NA | Japan |
Carer Perceptions Information Practical Social/Community Support Systems Well-being |
| Caregiver burden in haemophilia: results from a single UK centre | Quantitative cross-sectional | 2017 |
Haemophilia A Haemophilia B |
Parents |
Mothers (80%) Fathers (20%) |
20 |
Mothers, mean: 40.5 Fathers, mean: 42.5 |
UK |
Practical Social/Community Well-being |
| The burden of bleeds and other clinical determinants on caregivers of children with haemophilia (the BBC Study) | Quantitative cross-sectional | 2019 |
Haemophilia A Haemophilia B |
Parents | Mothers (81.35%) | 144 |
Mean (range): 39.8 (24–57) |
Germany, Italy, Netherlands, Poland, Sweden, Turkey, UK |
Carer Perceptions Disease Severity Practical Well-being |
| Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines | Literature review | 2019 |
DDEB EBS EBS-I JEB KS RDEB RDEB + |
Family | NA | NR | NR | NR |
Carer Perceptions Information Practical Social/Community Support Systems Well-being |
| Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey | Quantitative cross-sectional | 2019 | MPS-VII | Parents | NR | 12 | NR | Germany, Spain, Netherlands, Turkey |
Carer Perceptions Practical Information Support Systems |
| Emotional experience in parents of children with Zellweger spectrum disorders: a qualitative study | Qualitative | 2019 |
Clinically similar peroxisome disorder D-bifunctional protein deficiency Zellweger spectrum disorder |
Parents |
Mothers (67.57%) Fathers (32.43%) |
37 |
Age Category: mean (%) 25–34: 8 (21.6) 35–44: 24 (64.9) 45–54: 3 (8.1) 55–64: 2 (5.4) |
US (89.2%) Outside US (10.8%) |
Acceptance Carer Perception Gratitude and Hope Information Practical Support Systems Well-being |
| Assessing the supportive care needs of parents with a child with a bleeding disorder using the Parental Needs Scale for Rare Diseases (PNS-RD): A single-centre pilot study | Quantitative cross-sectional | 2019 |
Factor II deficiency Factor V deficiency Factor VII deficiency Haemophilia A (mild, moderate, severe) Haemophilia B (mild, moderate, severe, factor X deficiency, fibrinogen deficiencies) Bernard–Soulier syndrome Glanzmann’s thrombasthenia Hermansky–Pudlak syndrome Inherited thrombocytopenia Lowes syndrome May–Hegglin syndrome Platelet storage pool defects Platelet release defects Purpura All other platelet defects Thrombotic thrombocytopenia Von Willebrand disease (type 1, type 2, type 3) |
Parents |
Mothers (56.9%) Fathers (42.8%) |
231 |
Age Category (%): 15–24: 1.3% 25–34: 8.3% 35–44: 55% 45–54: 31% 55 + : 4.4% |
NR |
Information Practical Well-being |
| An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States | Quantitative cross-sectional | 2019 | MPS-I | Parents | NR | 32 | NR | US | Practical |
| Parental health spillover effects of paediatric rare genetic conditions | Quantitative case–control | 2020 |
Brain malformations Epileptic encephalopathies Genetic kidney diseases Mitochondrial diseases |
Parents |
Mothers (88%) Fathers (12%) |
207 | Mean: 38.4 | Australia | Practical |
AA = Argininosuccinic aciduria, CD = Citrin deficiency, DDEB = Dominant dystrophic epidermolysis bullosa, EBS = Epidermolysis bullosa simplex, EBS-DM = Epidermolysis bullosa simplex Dowling–Meara, EBS-K = Epidermolysis bullosa simplex Köbner type, EBS-WC = Epidermolysis bullosa simplex Weber–Cockayne, HM = Hypermethioninemia, IEM = Inborn error of metabolism, IMD = Inherited metabolic disease, JEB-nH = Junctional epidermolysis bullosa non-Herlitz type, KS = Kinder syndrome, MPS = Mucopolysaccharidosis, MPS-I = Mucopolysaccharidosis type I, MPS-I-H/S = Mucopolysaccharidosis type I Hurler–Scheie syndrome, MPS-I-H = Mucopolysaccharidosis type I Hurler syndrome, MPS-I-S = Mucopolysaccharidosis type I Scheie syndrome, MPS-II = Mucopolysaccharidosis type II, MPS-III = Mucopolysaccharidosis type III, MPS-IV = Mucopolysaccharidosis type IV, MPS-VI = Mucopolysaccharidosis type VI, MSUD = Maple syrup urine disease, PA = Propionic acidemia, PKU = Phenylketonuria, RDEB = Recessive dystrophic epidermolysis bullosa, RDEB-mut = Mutilating recessive dystrophic epidermolysis bullosa