Table 1 Cohort description: epidemiological, laboratory and clinical description.

From: Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

Patients

Children (N = 21)

Adults (N = 16)

Sex (male/female)

12/9

9/7

Age (mean, SD [range])

12.4 years, 3.8 [4.4–17.6]

29.3 years, 8.0 [18.1–44.6]

Laboratory studies

Abnormal liver function

8/20 (40%)

1/11 (9%)

Coagulation

  

 Abnormally low ATIII values

7/18 (38.8%)

9/11 (81.8%)

 Abnormally low FIX values

0/18 (0.0%)

0/5 (0.0%)

 Abnormally low FXI values

6/18 (33.3%)

2/5 (40.0%)

 Abnormal thyroid function

1/19 (5.2%)

0/9 (0.0%)

Sialotransferrin profile (mean percentage, SD [range])

 Tetrasialotransferrin

60.4, 13.2 [35.2–80.2]

56.7, 19.2 [32.3–84.8]

 Disialotransferrin

21.9, 12.0 [2.7–46.7]

20.1, 12.8 [1.0–29.0]

 Asialotranferrin

4.6, 4.4 [0.0–14.6]

6.1, 5.5 [0.0–12.7]

Sialotransferrin ratios (mean ratio, SD [range])

 Mono/dioligo ratio

0.35, 0.28 [0.03–0.61]

0.32, 0.24 [0.01–0.61]

 A/dioligo ratio

0.08, 0.09 [0.00–0.27]

0.10, 0.09 [0.00–0.23]

Vascular events

3/21 (14.2%)

2/16 (12.5%)

Dysmorphic traits

  

 Typical facial gestalt

17/21 (80.9%)

16/16 (100.0%)

 Lipodystrophy

17/21 (80.9%)

12/16 (75.0%)

 Inverted nipples

5/21 (23.8%)

11/16 (68.7%)

 Long lender fingers

6/21 (28.4%)

14/16 (87.5%)

Neurodevelopmental and general assessment

 Epilepsy

8/21 (38.1%)

4/16 (25.0%)

 Stroke like events

8/21 (38.1%)

6/16 (37.5%)

 Developmental delay

21/21 (100.0%)

16/16 (100.0%)

 Intellectual disability

20/21 (95.2%)

14/16 (87.5%)

 ADHD

12/21 (57.1%)

NCD

 Autistic spectrum disorder

6/21 (28.6%)

NCD

 Obsessive–compulsive disorder

2/21 (14.3%)

NCD

 ICARS (mean, SD [range])

43.4, 25.2 [14–76]

38.2, 17.7 [4–58]

 NPCRS (mean, SD [range])

18.3, 7.5 [6–28]

17.5, 4.5 [6–22]

 MVRD (mean, SD [range])

43.2, 16.2 [35–56]

45.4, 25.9, [30–59]

 Walking abilities

9 Sev, 5 Mod, 7 Mild

6 Sev, 3 Mod, 7 Mild

 Speech

8 Sev, 4 Mod, 9 Mild

4 Sev, 5 Mod, 7 Mild

 School/occupational activities

13 Sev, 3 Mod, 5 Mild

6 Sev, 6 Mod, 4 Mild

Molecular findings (variants present at least in two alleles)*

p.R141H (16/74 alleles, 21.6%), p.T237M (7/74 alleles, 9.5%), p.V44A (4/74 alleles, 5.4%), p.R123Q, p.P113L, and p.F207S (3/74 alleles, 4.1%), p.L32R, p. D65Y, p. F157S, and p.G214S (2/74 alleles, 2.7%)

  1. Walking abilities: Severe (Sev) no autonomous walk at all; Moderate (Mod) walk with help (person/device); Mild (Mild) independent walk.
  2. Speech and comunication: Severe (Sev) no funcional speech; Moderate (Mod) verbal intention, difficult to understand; Mild (Mild) communication mainly using speech.
  3. School/occupational activities: Severe (Sev) special school or occupational centre; Moderate (Mod) regular school with major adaptation; Mild (Mild) regular with little adaptation.
  4. SD Standard Deviation; range is in square brackets; ADHD Attention deficit and hyperactive disorder, NCD No complete data.
  5. *All the subjects have biallelic variants in PMM2, with only two exceptions that showed homozygous variants.
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