Table 1 Family demographics and the child’s characteristics in the database (n=192)
Family factors | |
Parental age (n=160) mean (SD), years | 38.2 (7.0) |
n (%) | |
 Under 30 years | 14 (8.8) |
 30 to 40 years | 84 (52.5) |
 40 years or over | 62 (38.8) |
Parental qualification (n=160), n (%) | |
 11 or 12 years of school | 34 (21.3) |
 TAFE/technical certificate | 31 (19.4) |
 University degree | 95 (59.4) |
Parental work status (n=160), n (%) | |
 Full-time homemaker/unemployment | 76 (47.5) |
 Part-time employment | 39 (24.4) |
 Full-time employment | 45 (28.1) |
Number of siblings (n=162), n (%) | |
 0 | 37 (22.8) |
 1 | 67 (41.4) |
 2 or more | 58 (35.8) |
Birth order (n=162), n (%) | |
 The first child | 75 (46.3) |
 Laterborn | 87 (53.7) |
Child factors | |
Child’s age (n=192) mean (SD), years | 7.1 (6.1) |
n (%) | Â |
 Under 1.5 years | 30 (15.6) |
 1.5 to 7 years | 86 (44.8) |
 7 to 13 years | 48 (25.0) |
 13 years | 28 (14.6) |
Child’s gender (n=192), n (%) | |
 Female | 164 (85.4) |
 Male | 28 (14.6) |
Child’s country of birth (n=191), n (%) | |
 North America | 105 (55.0) |
 The United Kingdom | 14 (7.3) |
 Australia and New Zealand | 16 (8.4) |
 Western Europe | 38 (19.9) |
 Others | 18 (9.4) |
Mutation group (n=192), n (%) | |
 No functional protein | 55 (28.7) |
 Missense/In-frame mutations within kinase domain | 48 (25.0) |
 Truncations from aa172 to aa781 | 58 (30.2) |
 Truncations after aa781 | 16 (8.3) |
 Mutations not grouped | 15 (7.8) |
Feeding pattern (n=171), n (%) | |
 Oral intake only | 128 (74.9) |
 Combination use#2 | 16 (9.4) |
 Enteral nutrition only#3 | 27 (15.8) |
Dietary concerns (n=139)#4, n (%) | |
 None | 66 (47.5) |
 Occasional | 47 (33.8) |
 Frequent/constant | 26 (18.7) |
Floor sitting (n=144)#5, n (%) | |
 No assistance | 89 (61.8) |
 Some assistance | 14 (9.7) |
 Mximal assistance/unable | 41 (28.5) |
Taking 10 steps forward (n=141)#5, n (%) | |
 No assistance | 30 (21.3) |
 Some assistance | 20 (14.2) |
 Mximal assistance/unable | 91 (64.5) |
Eye contact (n=158), n (%) | |
 No | 85 (53.8) |
 Yes | 73 (46.2) |
Communication (n=143)#5, n (%) | |
 No/Simple communication | 53 (37.1) |
 Complex gestures/vocalisation | 62 (43.4) |
 Sign/Spoken language | 28 (19.6) |
Seizure frequency (n=160), n (%) | |
 Absent | 14 (8.8) |
 Yearly/Monthly | 16 (10.0) |
 Weekly | 27 (16.9) |
 1 to 5 times per day | 74 (46.3) |
 At least 5 times per day | 29 (18.1) |
Sleep difficulties (average SDSC score) (n=155), n (%) | |
 1 to 1.50 (1st quartile) | 38 (24.5) |
 1.50 to 1.81 (2nd quartile) | 39 (25.2) |
 1.81 to 2.17 (3rd quartile) | 40 (25.8) |
 2.17 to 5 (4th quartile) | 38 (24.5) |
Hospitalisation rate (n=156), per 1 person-year, n (%) | |
 0 to 0.38 (1st quartile) | 39 (25.0) |
 0.38 to 0.86 (2nd quartile) | 39 (25.0) |
 0.86 to 2.14 (3rd quartile) | 39 (25.0) |
 2.14 to 13.70 (4th quartile) | 39 (25.0) |
Socio-environmental factors | |
Respite care (n=153), n(%) | |
 None | 41 (26.8) |
 Formal respite care only | 21 (13.7) |
 Informal respite care only | 41 (26.8) |
Both formal and informal respite care | 50 (32.7) |
Financial difficulty (n=147), n (%) | |
 No | 83 (56.5) |
 Yes | 64 (43.5) |