Table 2 Participant Demographics

Age

Mean: 8.8 years (range: 4–16)

Mean: 9.4 years (range: 4–16)

0.63

Sex

Female: n = 11; Male n = 2

Female: n = 23; Male: n = 3

1.0

IMD Decile

8 (2–10)

8 (2–10)

0.31

Mental Age

3.62 years (1–10 years)

4.32 years (0–8 years)

0.37

ABAS Generalised Adaptability Composite

57.7 (46–75)

51.1 (46–71)

0.19

Physical Health

Very good: n = 1

Very good: n = 2

0.18

Good: n = 2

Good: n = 13

Fair: n = 8

Fair: n = 8

Bad: n = 1

Bad: n = 3

Physical Health Co-morbidities

Seizures n = 11

Seizures n = 2

 < 0.001

Movement difficulties n = 10

Movement difficulties n = 17

0.48

Respiratory co-morbidities n = 1

Respiratory co-morbidities n = 12

0.06

Cardiac co-morbidities n = 1

Cardiac co-morbidities n = 4

0.48

Gastrointestinal co-morbidities n = 6

Gastrointestinal co-morbidities n = 12

0.79

Musculoskeletal co-morbidities n = 1

Musculoskeletal co-morbidities n = 5

0.52

Neuropsychiatric Co-morbidities

Autism-spectrum disorder n = 6

Autism-spectrum disorder n = 8

0.55

ADHD n = 2

ADHD n = 4

1.0

Generalised Anxiety n = 1

Generalised Anxiety n = 4

0.49

Oppositional defiant disorder n = 1

Oppositional defiant disorder n = 0

0.15

Mutation Type

Frameshift n = 6

Frameshift n = 10

Stop gained n = 4

Missense n = 6

Splice site n = 2

Stop gained n = 7

Inframe deletion n = 1

Splice site n = 1

Expansion n = 1

Unknown n = 1