Table 1 Demographic characteristics of study participants
From: Determinants of dental care use in patients with rare diseases: a qualitative exploration
Patient | Gender | Main Diagnosis | Age | Intellectual delay |
|---|---|---|---|---|
1 | M | Biliary atresia (liver transplantation) | 11 | Yes |
2 | M | Non syndromic biliary atresia | 13 | Yes |
3 | M | Methylmalonic acidemia with neonatal coma, (kidney transplantation) | 20 | Yes |
4 | M | VACTERL association, Neurogenic vesiculo-sphincter dysfunction in the context of an upper anorectal malformation associated with a filum lipoma | 10 | Yes |
5 | F | Di George syndrome: Low anorectal malformation with recto-vestibular fistula, congenital heart disease: double ventricular septal defect peri-membrane and trabecular | 12 | Yes |
6 | F | Postnatal diagnosis of double discordance with pulmonary atresia and IVC in dextrocardia, of antenatal diagnosis.Q210 interventricular communication; discordant ventriculo-auricular communication. | 7 | No |
7 | M | Biliary atresia (liver transplantation) | 8 | Yes |
8 | F | Sickle cell disease (SCD) (drepanocytosis) | 15 | Yes |
9 | M | esophageal atresia, type III associated with an omphalo mesenteric duct with common mesentery. | 10 | Yes |
10 | F | MoyaMoya disease, with multiple strokes | 19 | Yes |
11 | F | Esophageal atresia type 3 | 7 | No |
12 | M | SYNGAP1 mutation | 12 | No |
13 | M | Extensive Hirschsprung’s disease - Small bowel transplantation - Chylous ascites | 15 | Yes |
14 | F | Polymicrogyria | 17 | Non |
15 | M | SATB2 Mutation | 15 | Non |
16 | F | liver-renal transplantation for methylmalonic acidemia. | 18 | Yes |
17 | M | Soto’s syndrome | 15 | Yes |
18 | M | 18 | No | |
probable VACTERL association, partial agenesis sacral anomaly, high anorectal malformation, aortic bicuspid heart disease, right multicystic renal dysplasia with renal involution, compensatory hypertrophy of the left kidney, left vesico-ureteral reflux | ||||
19 | M | Esophageal Atresia type III | 8 | No |
20 | F | Cystic fibrosis | 18 | Yes |
21 | F | Mosaic trisomy 8 | 10 | Yes |
22 | F | BPTF Mutation | 10 | Yes |
23 | M | Fibrodysplasia Ossificans Progressiva | 12 | No |
24 | F | Fibrodysplasia Ossificans Progressiva | 11 | No |
25 | M | Fibrodysplasia Ossificans Progressiva | 13 | No |
26 | M | Fibrodysplasia Ossificans Progressiva | 22 | No |
27 | M | Fibrodysplasia Ossificans Progressiva | 22 | No |
28 | F | Fibrodysplasia Ossificans Progressiva | 24 | No |
29 | F | Fibrodysplasia Ossificans Progressiva | 18 | No |