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Table 2 Demographic, clinical characteristics, and primary outcomes of patients with Niemann–Pick disease Type C1 (NPC1) at baseline

From: Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Characteristic

All patients (n = 120)

Early childhood (n = 63)

Late childhood (n = 40)

Adult onset (n = 11)

No neurological symptoms (n = 6)

Overall p valuea

ECO versus LCO p valueb

Demographic

       

 Age at visit, median (IQR), years

9.8 (3.8–19.0)

4.5 (2.9–8.5)

17.3 (12.6–21.1)

36.1 (32.5–62.5)

1.5 (1.1–9.7)

< 0.001

< 0.001

 Sex, F

63 (52.5%)

29 (46.0%)

21 (52.5%)

9 (81.8%)

4 (66.7%)

0.15

0.55

 Patients with follow-up visits, (n = 57)

57 (100%)

30 (52.6%)

20 (35.1%)

5 (8.8%)

2 (3.5%)

0.66

0.98

Clinical

       

 Onset of neurological symptomsc

114 (95.0%)

63 (100.0%)

40 (100.0%)

11 (100.0%)

0 (0.0%)

< 0.001

NA

 Age at onset of neurological symptoms, median (IQR), years

5.0 (2.0–8.0)

(n = 114)

2.0 (1.5–3.0)

8.0 (6.5–11.0)

21.0 (18.0–43.0)

NA

< 0.001

< 0.001

 Duration of neurological symptoms, median (IQR), years

4.2 (1.2–10.3)

(n = 114)

2.0 (0.3–5.4)

8.6 (4.5–11.8)

15.9 (10.5–17.9)

NA

< 0.001

< 0.001

 Onset of seizure symptoms

29 (24.2%)

20 (31.8%)

8 (20.0%)

1 (9.1%)

0 (0.0%)

0.18

0.26

 Age at onset of seizures, mean (SD)

8.2 (5.2)

(n = 29)

6.3 (4.2)

11.9 (4.4)

18 (.)

NA

0.003

0.014

 Seizure diagnosis

16 (13.3%)

10 (15.9%)

5 (12.5%)

1 (9.1%)

0 (0.0%)

0.90

0.78

 Age at onset of first symptom, median (IQR), years

1.1 (0–6.0)

0.1 (0–1.5)

6.0 (1.5–8.5)

21.0 (18.0–43.0)

0 (− 0.3 to − 3.0)

< 0.001

< 0.001

 Duration of diagnostic delay, median (IQR), years

4.0 (1.0–9.0)

(n = 119)

1.9 (0.7–4.5)

(n = 62)

8.5 (4.5–11.5)

11.0 (5.0–17.0)

0.7 (0.3–9.0)

< 0.001

< 0.001

 Miglustat use

44 (36.7%)

21 (33.3%)

19 (47.5%)

4 (36.4%)

0 (0.0%)

0.13

0.21

Primary outcomes

       

 ASHA-NOMS, median score (IQR)

0 (0–0)

0 (0–0)

0 (0–1.0)

0 (0–1.0)

0 (0–0)

0.18

0.20

 PAS, median score (IQR)

0 (0–0)

0 (0–0)

0 (0–0.5)

0 (0–1.0)

0 (0–0)

0.085

0.21

 Dietary modification, median score (IQR)

0 (0–0)

0 (0–0)

1.0 (0–1.0)

0 (0–1.0)

0 (0–0)

0.003

0.009

 Solid modification, median score (IQR)

0 (0–0)

0 (0–0)

0 (0–0.5)

0 (0–0)

0 (0–0)

0.34

0.17

 Liquid modification, median score (IQR)

0 (0–0)

0 (0–0)

0 (0–1.0)

0 (0–1.0)

0 (0–0)

0.095

0.16

 Tongue strength, median score (IQR)

2.0 (1.0–3.0)

(n = 115)

2.0 (1.0–3.0)

(n = 60)

2.0 (2.0–3.0)

3.0 (2.0–3.0)

1.0 (1.0–1.5)

(n = 4)

0.036

0.21

 Lip strength, median score (IQR)

2.0 (1.0–3.0)

(n = 114)

2.0 (1.0–3.0)

(n = 60)

2.0 (1.0–3.0)

(n = 39)

3.0 (2.0–3.0)

1.0 (1.0–1.0)

(n = 4)

0.011

0.11

 Dysarthria, median score (IQR)

2.0 (1.0–3.0)

(n = 108)

2.0 (1.0–3.0)

(n = 56)

3.0 (2.0–3.0)

(n = 38)

3.0 (2.0–3.0)

1.0 (1.0–1.0)

(n = 3)

0.008

0.051

  1. Data are n (%), unless otherwise specified. Percentages may not total 100% due to rounding. Where data were missing, the available n is shown
  2. ECO Early-Childhood Onset (< 6 years old), LCO Late-Childhood Onset (≥ 6 to < 15 years old), AO Adult Onset (≥ 15 years old), SD standard deviation, IQR inter-quartile (25th–75th percentile) range, NA not applicable
  3. ap value from testing the global null hypothesis using ANOVA or Kruskal–Wallis test, as appropriate, or Fisher's exact test
  4. bp value from stepdown Bonferroni adjusted post-hoc pairwise comparison or Wilcoxon rank sum test, as appropriate, or Fisher's exact test
  5. cOnset of neurological symptoms was categorized as clinical symptoms that originated from the central nervous system
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172