Table 1 Participant demographics

Survey participants, n

39

 Relationship to affected individual(s), n (%)

Mother

27

Father

7

No Response

5

 Number of affected children in family

One

35 (89.7%)

Two

4 (10.3%)

 Number of unaffected children in family

Zero

9 (23.1%)

One

14 (35.9%)

Two

9 (23.1%)

Three

5 (12.8%)

Four

1

(2.6%)

Five

1

(2.6%)

 Continent of residence, n (%)

North America

16

Europe

26

Australia

1

Affected individuals, n

43

 Present age (if surviving, n = 38), mean years (SD, range)

12.4 (5.5, 2.4–26.1)

 Age at death (if deceased, n = 5), mean years (SD, range)

23.1 (6.9, 15.0-33.2)

 Sex, n (%)

Male

24 (55.8%)

Female

19 (44.2%)