Table 1 Phenotype of participants with genetic diagnosis (n = 44).
From: Childhood motor speech disorders: who to prioritise for genetic testing
Sex | Age y;m | Speech diagnosis | Genetic diagnosis | Dys-morphology | IQ | Receptive language | Expressive language | Delayed walking | Gross motor impairment | Fine motor impairment | ASD diagnosis | ADHD diagnosis | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 5;5 | CAS, PDis, Artic | ADGRL1 | + | Borderline | Severe | Severe | - | - | + | - | - |
2 | M | 4;1 | CAS | ANK2 | - | Moderate | Moderate | - | - | - | - | - | |
3 | F | 5;5 | CAS, DYS | BPTF | + | Borderline | - | - | + | - | - | ||
4 | M | 4;10 | CAS | CACNA1A | - | Mild | - | - | + | Features | - | ||
5 | M | 6;10 | CAS, DYS | CACNA1A | Features | Low average | Severe | + | + | + | - | - | |
6 | M | 7;3 | CAS | CACNA1A | - | Average | Severe | + | + | - | Features | Features | |
7 | F | 3;4 | CAS | CAMK2A | - | Mild | Average | Low average | + | + | + | - | Features |
8 | M | 8;0 | CAS, DYS | CAMTA1 | Features | Low average | Moderate | Severe | + | + | + | - | + |
9 | M | 4;8 | CAS, PDis | CUX1 | Features | Borderline | Severe | Mild | - | + | + | + | - |
10 | M | 17 | DYS | EBF3 | + | High average | Average | Mild | + | + | + | Features | - |
11 | M | 4;3 | CAS | EHMT1 | + | Mild | + | + | - | - | - | ||
12 | M | 6;1 | CAS, PDel | EHMT1 | + | Borderline | Mild | Severe | + | - | + | - | - |
13 | M | 6;7 | CAS, PDel | FBXW7 | + | Mild | Severe | Severe | + | + | - | - | - |
14 | M | 4;6 | CAS, PDel | FOXP1 | - | Moderate | Severe | + | + | + | Features | - | |
15 | F | 4;3 | CAS, PDis | GNAI1 | + | Borderline | Mild | Severe | + | + | - | - | - |
16 | F | 4;2 | CAS | KCND3 | - | Borderline | Moderate | Moderate | + | + | + | - | - |
17 | M | 3;7 | CAS, PDis | KDM5C | - | Average | Severe | - | - | - | + | Features | |
18 | F | 5;9 | CAS, Stutter, PDel | NSD1 | + | Borderline | Mild | Severe | + | + | - | - | - |
19 | F | 3;7 | CAS | PPP2R5D | - | Average | + | + | - | - | - | ||
20 | F | 4;6 | CAS | RAF1 | Features | Mild | Severe | - | + | + | Features | - | |
21 | F | 4;6 | CAS | SCN8A | Features | Low average | Average | Mild | - | - | + | - | - |
22 | F | 10;9 | CAS, PDel | SET | - | Borderline | Mild | Severe | + | - | - | - | - |
23 | F | 3;9 | CAS, PDis | SETBP1 | + | Mild | + | + | + | - | - | ||
24 | F | 14;6 | CAS, DYS | SETBP1 | + | Mild | Mild | Mild | + | + | + | - | - |
25 | M | 3;11 | CAS | SETD1A | + | Low average | Average | Moderate | + | + | + | - | - |
26 | M | 4;8 | CAS | SETD2 | Features | - | + | + | - | - | |||
27 | F | 5;2 | CAS | SETD5 | + | Moderate | Severe | + | + | + | - | - | |
28 | M | 3;5 | CAS, PDis | SLC6A1 | + | Mild | Moderate | - | + | - | - | - | |
29 | F | 16;5 | DYS | SLC6A8 | Features | Mild | Moderate | Severe | + | + | + | + | - |
30 | F | 3;6 | CAS, PDis | SMARCA2 | + | Low average | Low average | Average | - | + | - | - | - |
31 | M | 3;9 | CAS | SMARCA2 | + | Mild | Severe | Severe | + | + | - | + | - |
32 | M | 7;3 | CAS, PDis, Artic | SPTBN1 | - | Borderline | Severe | Severe | - | + | + | Features | + |
33 | M | 13 | CAS, PDis | SRRM2 | + | Borderline | - | + | + | - | - | ||
34 | M | 7;2 | CAS | TAB2 | - | - | Below average | Below average | - | - | + | - | - |
35 | M | 4;2 | CAS, PDis | TRIM8 | + | Mild | Severe | Severe | + | + | + | Features | - |
36 | M | 5;3 | CAS | 1q21.1q21.2 dup | - | Average | - | - | - | - | - | ||
37 | M | 9;7 | CAS, PDis | 15q13.2q13.3 del | - | Borderline | Mild | Severe | - | - | - | - | - |
38 | M | 5;1 | CAS, PDel | 16p12.2 del | Features | Average | Moderate | Average | - | + | + | - | - |
39 | M | 5;2 | CAS | 17q12 dup | - | Average | + | - | + | - | - | ||
40 | M | 4;9 | CAS | 22q11.21 del | + | + | + | + | - | - | |||
41 | M | 6;6 | CAS, Stutter, PDel | 22q11.21q11.22 dup | + | Average | Average | Average | - | + | + | - | - |
42 | F | 4;1 | CAS, DYS | 47, XXX | Features | High average | Average | - | + | + | - | - | |
43 | M | 8;5 | CAS, DYS | 48, XXYY | + | Low average | Moderate | - | - | - | - | - | |
44 | M | 6 | CAS | 48, XYYY | - | Low average | Average | Average | - | - | + | - | - |
