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Table 2 Child demographics and clinical characteristics

From: Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development

Demographic variables

Total (N = 15)

Child’s age, years

Mean (SD)

5.3 (3.8)

Median

4.0

Range

1.0–12.0

Child’s sex, n (%)

Female

5 (33.3)

Male

10 (66.7)

Child’s ethnicity, n (%)

Hispanic/Latino

3 (20.0)

Not Hispanic/Latino

12 (80.0)

Child’s race, n (%)

White/Caucasian

12 (80.0)

Black/African American

1 (6.7)

Asian/Asian American

1 (6.7)

Othera

1 (6.7)

Time since diagnosis, months

Mean (SD)

47.1 (43.0)

Median

28.5

Range

2.0–124.0

Genetic subtype of AS, n (%)

Deletion

10 (66.7)

Mutation

2 (13.3)

Imprinting defect

2 (13.3)

Paternal uniparental disomy (UPD)

1 (6.7)

Caregiver-reported severity over past 3 months, n (%)

Very mild

4 (26.7)

Moderate

5 (33.3)

Severe

5 (33.3)

Very severe

1 (6.7)

  1. aChild was identified by the caregiver as being multiracial
  2. AS Angelman syndrome; SD standard deviation; UPD uniparental disomy