Table 2 Description of children living with rare diseases
Characteristics | N (%) |
|---|---|
Gender | |
Male | 256 (55.4) |
Female | 206 (44.6) |
Age Group (years) | |
0 to 5 | 165 (36) |
6 to 12 | 176 (38) |
13 to 18 | 121 (26) |
Country of Birth | |
Australia | 442 (96) |
Other | 20 (4) |
Ethnicity | |
Caucasian | 360 (78) |
Middle Eastern | 28 (6) |
Asian | 22 (5) |
Aboriginal or Torres Strait Islander | 10 (2) |
Diagnosis Groupings | |
Inborn Error of Metabolism | 176 (38) |
Genetic Syndrome | 63 (13) |
Chromosomal Disorder | 50 (11) |
Congenital Malformation Syndromes | 26 (6) |
Neuromuscular Disorder | 24 (5) |
Gastrointestinal Disorder | 10 (2) |
Epilepsy Syndrome | 9 (2) |
Cardiac Disorder | 7 (1) |
Chromosomal Disorder/Genetic Syndrome | 7 (1) |
Neurodegenerative Disorder | 6 (1) |
Immune Disorder | 6 (1) |
Skeletal Dysplasia | 6 (1) |
Dermatological Disorder | 5 (1) |
Renal Disorder | 5 (1) |
Neurodevelopmental Disorder | 3 (<1) |
Respiratory Disorder | 3 (<1) |
Developmental Eye Disorder | 2 (<1) |
Skeletal Disorder | 2 (<1) |
Neuropathy | 1 (<1) |
Familial Cancer Disorder | 1 (<1) |
Endocrinological Disorder | 1 (<1) |
Connective Tissue Disorder | 1 (<1) |
Channelopathy | 1 (<1) |
Othera | 16 (3) |
Diagnosis Not Provided by family | 5 (1) |
No Diagnosis Yet | 27 (6) |