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Table 3 Characteristics of individuals with AADC deficiency (N = 13)

From: Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function

Characteristic

Mean (SD)

Range

Age (years)

  When first symptoms noticed (months)

11.9 (11.9)

0–48

  At diagnosis with AADC deficiency (months)

30.1 (23.0)

7–96

  Current (years)

6.9 (4.7)

1–15

 

N (%)

Sex

  Male

9 (64.3)

  Female

5 (35.7)

Current health state

  No motor function

6 (46.2)

  Head control

0 (0)

  Sitting without support

1 (7.7)

  Standing/stepping when fully supported

1 (7.7)

  Walking with minimal support

5 (38.5)

Uses a feeding tube

5 (35.7)

Uses a ventilator

4 (28.6)