Table 2 Gain and loss of developmental milestones in CD patients: study cohort versus literature
From: The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Milestones of psychomotor development | Patients who gained function, n (N) percentage | Patients who lost function, n (N) percentage | Age of gain, median (range), mo | Age of loss, median (range), mo | Normal age of gain (DDST II), ranges, mo | Patients who gained function, Traeger et al., n (N) percentage | Patients who lost funktion, Traeger et al., n (N) percentage | Age of gain, Traeger et al., median (range), mo | Age of loss, Traeger et al., median (range), mo |
|---|---|---|---|---|---|---|---|---|---|
Hearing/Vision | |||||||||
Visual tracking | 12/23 52% | 7/23 30% | 4 (0–15) | 14 (1–132) | 0–4 | 33/59 56% | 10/59 17% | 4 (1–18) | 12 (4–44) |
Hearing | 23/23 100% | 0/23 0% | 0 (0–0) | 0 | |||||
Gross Motor Skills | |||||||||
Head control | 6/23 26% | 2/22 9% | 6 (2–10) | 6 (6–6) | 1.5–4 | 11/59 19% | 8/59 14% | 6 (1–24) | 11.5 (2–180) |
Rolling over | 9/23 39% | 7/22 32% | 6 (2–12) | 11 (4–120) | 4.25–5.5 | 17/59 29% | 7/59 12% | 6 (2–24) | 11.5 (6–72) |
Sitting with support | 6/23 26% | 2/23 9% | 5.5 (4–8) | 15 (6–24) | |||||
Sitting without support | 2/23 9% | 1/23 4% | 11.5 (11–12) | 120 | 6.75–8 | 1/59 2% | 1/59 2% | 10 | 60 |
Crawling | 0/22 | – | – | – | 1/59 2% | 1/59 2% | 10 | 72 | |
Standing with support | 1/23 4% | 1/22 5% | 13 | 132 | 6.75–10.5 | ||||
Standing without support | 0/23 | – | – | – | 11.25–16 | ||||
Walking with support | 3/23 13% | 2/23 9% | 18 (15–19) | 84 (36–132) | |||||
Walking | 0/23 | – | – | – | 12.25–16 | ||||
Fine Motor Skills | |||||||||
Reaching for an object | 7/22 30% | 2/22 9% | 7 (4–10) | 69 (6–132) | 3.5–6 | ||||
Voluntary hand function | 7/23 30% | 1/22 5% | 7 (1–18) | 6 | |||||
Transfer an item | 5/23 22% | 4/23 17% | 9 (4–18) | 31 (6–132) | 5–8.75 | ||||
Scribbling/drawing | 3/23 13% | 2/23 9% | 9 | 78 (24–132) | 12.25–21 | ||||
Language/Other | |||||||||
Imitating noises | 3/22 13% | 2/22 9% | 11 (10–12) | 96 (60–132) | 6.5–12.75 | ||||
Squealing /babbling | 5/16 31% | 2/15 13% | 8 (4–55) | 156 (132–180) | 1.5–3.75 | 10/59 17% | 0/59 | 5 (1–18) | – |
Understand language | 11/23 48% | 1/22 5% | 11 (7–24) | 7 | – | ||||
Reactive smiling | 7/11 64% | 2/11 18% | 5 (1–14) | 205.5 (132–281) | 0–1.5 | 43/60 72% | 4/60 7% | 3 (0–36) | 13.5 (4–150) |
Communicate | 8/22 36% | 1/22 5% | 11 (4–24) | 180* | – | ||||
Single words | 3/23 13% | 2/23 9% | 24 (12–24) | 93.5 (48–139) | 10–14.5 | 2/59 3% | 1/59 2% | 23.5 (11–36) | 180 |
Single sentences | 0/23 | – | – | ||||||
Count to five | 1/23 4% | 1/23 4% | 60* | 132* | |||||
Independent eating | 2/23 9% | 0/23 | 11 | – | |||||
Toilet trained | 0/23 | – | – | – |