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Table 1 Family demographics and the child’s characteristics in the database (n=192)

From: Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

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 (%)  
 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)
  1. #1 North America includes the United States (100) and Canada (5). Australia and New Zealand contains Australia (14) and New Zealand (2). Western Europe includes Germany (12), France (7), the Netherlands (6), Ireland (3), Spain (2), Italy (2), Belgium (1), Denmark (1), Finland (1), Norway (1), Sweden (1) and Luxemburg (1). Others comprises Brazil (3), India (2), Russia (2), Hungary (2), Bulgaria (1), Poland (1), Slovenia (1), Israel (1), China (1), Singapore (1), Mexico (1), Perto Rico (1) and Argentina (1).
  2. #2 14 used a gastrostomy tube, 2 used a nasogastric tube
  3. #3 25 used a gastrostomy tube, 2 used a nasogastric tube
  4. #4 Among children who intook food orally with or without combination use of external nutrition
  5. #5 Excludes child aged younger than 1.5 years