Table 1 Overview and details of included studies

Baumbusch et al. [27]

Canada

Several

16

6 weeks–16 years

Thematic analysis

Brewer et al. [28]***

UK

Juvenile Huntington’s disease

12

7 teenagers

1 < 10 years

4 > 20 years

Interpretetive phenomenological analysis

Bruns & Foerster [58]*

USA

Trisomy 9, 13, and 18

20

40–370 months

Thematic analysis? (not specified)

Bruns & Schrey [59]*

USA

Trisomy 9, 13, 18

20

40–370 months

Thematic analysis? (not specified)

Cardinali et al. [29]

Italy

Several

15

N/A

Grounded theory

Currie & Szabo [30]**

Canada

Several

15

 < / = 15 years

Interpretetive thematic analysis

Currie & Szabo [31]**

Canada

Several

15

 < / = 11 years

Hermeneutical phenemenology

Currie & Szabo [49]**

Canada

Several

15

 < / = 11 years

Hermeneutic phenomenology

Feragen et al. [32]

Norway

Congenital craniofacial anomaly (CFA)

48

One year–18 years

Inductive thematic analysis

Germeni et al. [50]

Italy

Bartter syndrome

13

N/A

Thematic analysis

Gerstein et al. [33]

United States

Urea cycle disorders

35

0—> 18

Thematic content analysis

Gilmore et al. [34]

Australia

Several chromosomal disorders

22

1–17 years

Thematic analysis

Glenn [35]

USA

Alagille

16

6 months–17 years

Hermeneutic phenomenology

Gómez-Zúñiga et al. [36]

Spain

Several

10

N/A ?

Grounded theory

Griffith et al. [37]

UK

Cri du Chat, Cornelia de Lange, Angelman syndrome

8

Adults

Thematic content analysis

Güeita-Rodriguez et al. [55]

Spain

Rett syndrome

31

Mean age 12.57 (SD ± 9.02) years

Inductive thematic analysis

Kleinendorst et al. [39]

Netherland

16p11.2 deletion syndrome

23

Median age 9 years

(0–> 12 years)

Thematic analysis

Lim et al. [40]

China

Rett syndrome

14

4—18 years

Content analysis

Pousette Lundgren et al. [41]

Sweden

Amelogenesis imperfecta

8

N/A, but < 18 years

Thematic analysis

Myrin-Westesson et al. [38]

Sweden

Hemophilia

14

1–24 years

Hermeneutic phenomenology

Nag et al. [42]

Norway, Sweden and Denmark

Smith–Magenis syndrome

48

1½–50 years

Phenomenological approach

Purcell et al. [56]

USA

Neuroendocrinehyperplasia of infancy

12

N/A

Grounded theory

Ragusa et al. [54]

Italy

Prader-Willi syndrome

138

 > 5 years

Narrative based

Smith et al. [43]***

UK

Juvenile Huntington’s disease

12

7 teenagers

1 < 10 years

4 > 20 years

Interpretetive phenomenological analysis

Somanadhan & Larkin, [44]

Ireland

MPS I, MPS II, MPS III, and MPS VI

8

6 months–22 years

Hermeneutic phenomenology

Tikkanen, Peterson & Parsloe [57]

USA, Italy, Holland, New Zealand, Australia, Canada, and

Montenegro

Sturge-Weber

syndrome

24

N/A

Interpretetive thematic analysis

Trulsson & Klingberg [53]

Sweden

Several

14

3–21 years

Grounded theory

Vitale [45]

USA

Prader-Willi syndrome

20 parents

2–17 years

Thematic analysis

von der Lippe et al. [51]

Norway

Hemohilia A and B

16

N/A

Inductive thematic analysis

Weng et al. [46]

Taiwan

Silver-Russel syndrome

15

N/A

Content analysis

Wu et al. [47]

Taiwan

Epidermolysis bullosa

10

N/A

Phenomenological approach

Yang et al. [52]

Taiwan

SMA I & II

19

7–12 years

Phenomenology (Giorgi)

Zelihić et al. [48]

Norway

Bardet-Biedl syndrome

5

0–16 years

Thematic content analysis