Table 3 Diagnostic odyssey in DS

Age when the DS diagnosis was made

 2–5 months of age

1 (0.9)

 6–12 months of age

24 (22.6)

 1–3 years of age

48 (45.3)

 4–5 years of age

13 (12.3)

 6–10 years of age

11 (10.4)

 11–15 years of age

6 (5.7)

 16–18 years of age

2 (1.9)

 over 18

1 (0.9)

How long did it take before the DS diagnosis was confirmed?

 1–3 months

4 (3.8)

 4–6 months

18 (17)

 7–12 months

22 (20.8)

 1–2 years

24 (22.6)

 3–5 years

21 (19.8)

 6–7 years

4 (3.8)

 8–10 years

7 (6.6)

 11–15 years

3 (2.8)

 16–20 years

2 (1.9)

 over 20 years

1 (0.9)

The number of misdiagnoses received before the DS diagnosis was confirmed

 0

29 (27.4)

 1

46 (43.4)

 2–3

29 (27.4)

 4–5

2 (1.9)

Type of misdiagnosis or incomplete diagnoses a person received before DS diagnosis was made

 Febrile seizures

34

 Epilepsy

30

 Drug-resistant epilepsy

13

 Idiopathic generalised epilepsy

4

 Infantile epileptic spasms syndrome (IESS)

3

 Infantile epilepsy

3

 Lennox-Gastaut syndrome

2

 Cerebral palsy

2

 Viral encephalitis

2

 Doose Syndrome

1

 Muscle cramps

1

 Autism spectrum disorder

1

 hypotonia

1

 Homocystinuria

1

 Hypoxemia

1

 Aphasia

1

 Primary immunodeficiency

1

 Unspecified metabolic disorder

1

 Juvenile idiopathic arthritis (JIA)

1

 Caccine adverse event (VAE)

1

 missing answer

4

The number of physicians consulted before the DS diagnosis was confirmed

 1

7 (6.6)

 2–4

69 (65.1)

 5–7

24 (22.6)

 8–10

4 (3.8)

 11–15

2 (1.9)