Skip to main content

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