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Table 3 Clinical status score and cognitive outcome at the age of 3 yrs, 3 months

From: Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

Subsample

Positive clinical status score*; number (%)

Cognitive outcome IQ <85; number (%)

Symptomatic group

3/6 (50)

4/6 (66.7)

High risk group

1/7 (14.3)

3/7 (42.9)

NBS without MCADD and PKU

12/30 (40.0)

2/26 (7.7)

NBS: MCADD

3/32 (9.4)

1/32 (3.1)

NBS: PKU

7/50 (14.0)

4/49 (8.2)

Total

26/125 (20.8)

14/120 (11.7)

Disorders of screening panel 2005 without PKU and BIOD$

8/61 (13.1)

5/60 (8.3)

Additional disorders screened until 2005#

11/14 (78.6)

5/11 (45.5)

  1. Abbreviations see Table 1
  2. * ≥ 1 disorder specific clinical sign
  3. $ MSUD, Galactosaemia, MCADD, LCHADD, VLCADD, CPT ID, CPT IID, GA I, IVA
  4. # Cobalamin C/D defect, PA, HMG-CoA LD, CIT I, ASLD, TYR I, CTD, MADD