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Table 1 Demographic information for respondents and the affected child

From: Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Demographic variables

Respondent (N = 19)

Affected child (N = 15)

Gender

10/15 mother only (67%)

1/15 father only (7%)

4/15 both parents (27%)

4/15 female (27%)

11/15 male (73%)a

Average age (years)

34.0 ± 10.1 (34–72 years)

9.0 ± 6.4 (1–25 years)

Local origin

14 Caucasian, 3 Asian, 2 preferred not to respond

12 Caucasian, 2 Asian, 1 > 1 race

Ethnicity

1/19 Hispanic (5.2%)

1/15 Hispanic (7%)

Age at diagnosis

n/a

Mean: 6.2 ± 6.2 (birth to 25 years)

  1. aThe skewed female/male ratio is noted, but the gender difference is not as striking in a larger cohort of individuals known to the authors