Table 2 Speech, oral motor, language, literacy and social skills
From: Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
Case | Age | Variant | Dysarthria | Speech apraxia | Oral motor impairment | Expressive language impairment | Receptive language impairment | Reading impairment | Spelling impairment | Social skills impairment |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 1;0 | 17q21 del | NA | NA | Y | WNL | WNL | NA | NA | WNL |
2 | 2;0 | 17q21 del | Y | Y | Y | Severe | Severe | NA | NA | NR |
3 | 2,5 | 17q21 del | NA | Y | Y | Severe | Severe | NA | NA | NR |
4 | 2;5 | 17q21 del | NA | Y | Y | Mild | WNL | NA | NA | Appropriate |
5 | 2;7 | 17q21 del | NA | Y | Y | Mild | Mild | NA | NA | NR |
6 | 2;9 | 17q21 del | NA | Y | Y | Severe | Severe | NA | NA | Appropriate |
7 | 3;0 | 17q21 del | NA | Y | Y | Severe | Severe | NA | NA | WNL |
8 | 3;1 | 17q21 del | Y | Y | Y | Severe | Severe | NA | NA | Mild |
9 | 3;4 | 17q21 del | N | Y | Y | Moderate | Mild | NA | NA | Mild |
10 | 3;7 | 17q21 del | NR | Y | Y | Severe | Severe | NA | NA | WNL |
11 | 3;8 | 17q21 del | NR | Y | Y | Mild | WNL | NA | NA | Appropriate |
12 | 4;8 | 17q21 del | Y | NR | NR | Severe | Severe | NA | NA | Appropriate |
13 | 4;11 | 17q21 del | Y | Y | Y | Mild | WNL | NA | NA | Moderatea |
14 | 5;6 | 17q21 del | NR | Y | Y | Severe | Severe | NA | NA | NR |
15 | 5;8 | 17q21 del | NR | NRb | NR | Severe | Severe | Mild | Mild | NR |
16 | 7;3 | c.531_540del, p.(Gly179Leufs) | Y | NR | Y | Moderate | Moderate | WNL | Mild | Appropriate |
17 | 9;0 | 17q21 del | Y | Y | Y | Severe | Severe | NA | NA | NR |
18 | 9;11 | 17q21 del | NR | Y | Y | Severe | Severe | NA | NA | NR |
19 | 10;6 | c.1816C>T, p.(Arg606Ter) | NR | Y | Y | Severe | Severe | NA | NA | Moderate |
20 | 10;10 | 17q21 del | Y | Y | Y | Severe | Moderate | WNL | WNL | NR |
21 | 11;7 | 17q21 del | Y | Y | Y | WNL | Moderate | Mild | Severe | Appropriate |
22 | 12;3 | 17q21 del | NR | Y | Y | Severe | Severe | NA | NA | Moderatea |
23 | 12;5 | c.2699_2702dup, p.(Ser901Argfs) | Y | Y | Y | Severe | Severe | NA | NA | Mild |
24 | 12;8 | 17q21 del | Y | Y | Y | Severe | Severe | Severe | Severe | Mild |
25 | 15;6 | 17q21 del | Y | Y | Y | Severe | Severe | NA | NA | Mild |
26 | 16;11 | c.1652+1G>A, p.(?) | Y | Y | Y | Severe | Severe | NA | NA | Severea |
27 | 21;0 | 17q21 del | NR | NR | NR | Severe | Severe | Severe | Moderate | Moderate |
28 | 25;11 | 17q21 del | Y | Y | Y | Severe | Severe | NA | NA | Moderate |
29 | 27;0 | 17q21 del | Y | Y | Y | Severe | Severe | Severe | Severe | Moderate |
