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 | ||||