Table 2.
Study details of the children with DS from literature review
| First author (year) |
Cases (% M) |
Age Onset Mean (range) months |
Age Dx Mean (range) months |
Diagnostic delay (range) months |
W < 5th c available in 71 cases |
W/L or W/H or BMI < 5th c available in 48 cases |
HC > 97th available in 25 cases |
Length or height available in 55 cases |
Clinical presentation available in 85 cases |
|
|---|---|---|---|---|---|---|---|---|---|---|
| < 5th c | > 98th c | |||||||||
|
Addy 1972 |
3 (0) |
3 (0–5) |
16.3 (9–21) |
13.3 (4–20) |
2 | NR | NR | NR |
Nystagmus (1) Vomiting (1) papilledema (2) Visual loss (1) Anorexia (1) |
|
|
Pelc 1972 |
3 (100) |
3.3 (2–5) |
9 (4–17) |
5.6 (1–14) |
1 | NR | 2 | 0 | 0 |
Nystagmus (3) Vomiting (3) Visual loss (3) lethargy (1) |
|
Burr 1976 |
5 (80) |
10.8 (4–36) |
34.2 (7–120) |
23.4 (3–84) |
1 | NR | 1 | 1 | 0 |
Nystagmus (1) Vomiting (5) papilledema (1) Visual loss (2) Neurodevelopmental delay (1) Hyperactivity/happiness (5) Anorexia (1) |
|
DeSousa 1979 |
12 (50) |
8.6 (5–27) |
NR | NR | 7 | NR | NR | NR |
Nystagmus (6) Visual loss (10) Hyperactivity (6) Irritability (6) |
|
|
Namba 1985 |
3 (66) |
10.3 (3–24) |
29 (16–45) |
18.3 (12–23) |
3 | NR | NR | NR |
Nystagmus (2) Vomiting (1) Visual loss (1) Irritability (1) Hyperactivity/ happiness (1) |
|
|
Gropman 1998 |
7 (71) |
NR |
13.1 (9–20) |
NR | 5 | NR | NR | 0 | 0 | NR |
|
Ertem 2000 |
3 (100) |
11.3 (6–22) |
16 (6–30) |
4.6 (0–8) |
3 | 3 | 1 | 0 | 0 |
Nystagmus (3) Visual loss (1) strabismus (1) Hyperactivity/happiness (£) Diaphoresis (1) |
|
Fleischman 2005 |
11 (54) |
NR | NR |
12.5 (2–33) |
10 | 11 | NR | 0 | 1 |
Nystagmus (3) Vomiting (4) Visual loss (1) Hyperactivity/happiness (2) lethargy (3) |
|
Brauner 2006 |
11 (45.5) |
NR |
17.6 (6–108) |
NR | NR | 9 | NR | NR |
Nystagmus and strabismus (8) Headache (1) |
|
|
Densupsoontorn 2011 |
3 (0) |
5.3 (3–7) |
12.3 (10–15) |
7 (5–9) |
3 | 3 | 1 | 1 | 0 |
Nystagmus (2) Vomiting (2) Visual loss (1) seizures (1) |
|
Sardi 2012 |
8 (50) |
NR |
16.7 (4–60) |
NR | 6 | NR | 1 | 0 | 0 | NR |
|
Hoffmann 2014 |
11 (36.3) |
92 (26–191) |
100 (28.8–193.2) |
8 (0.5–24) |
NR | 11 | NR | NR |
Nystagmus (1) Vomiting (5) Headache (6) polyuria/polydipsia (4) Anorexia (1) seizures (1) |
|
|
Kilday 2014 |
9 (55) |
NR |
16.7 (6.5–32) |
NR | 6 | 9 | NR | 0 | 1 |
Nystagmus (6) Vomiting (4) Visual loss (2) strabismus (2) Hyperactivity/happiness (3) Neurodevelopmental delay (3) Anorexia (2) |
|
Kim 2015 |
8 (12.5) |
7 (4–12) |
18 (5–38) |
11 (1–32) |
8 | NR | NR | 0 | 0 |
Nystagmus (1) Vomiting (5) Strabismus (2) Hyperactivity/ happiness (2) Neurodevelopmental delay (2) |
|
Patny 2015 |
3 (100) |
14 (0–36) |
75 (66–87) |
61.3 (30–87) |
2 | NR | NR | 0 | 0 |
Hepatosplenomegaly (1) precocious puberty (1) |
| TOTAL | 100 (50) | 57/71 | 46/48 | 6/24 | 2/55 | 2/55 | ||||
Dx Diagnosis, W weight, L Length, H Height, W/L, Weight/Length, W/H Weight/Height, BMI Body mass index, HC head circumference, NR Not reported, M male