Newborn screening compared to clinical identification of biochemical genetic disorders.
A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.
Waisbren
S E
SE
Children's Hospital, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA. susan.waisbren@tch.harvard.edu
Read
C Y
CY
Ampola
M
M
Brewster
T G
TG
Demmer
L
L
Greenstein
R
R
Ingham
C L
CL
Korson
M
M
Msall
M
M
Pueschel
S
S
Seashore
M
M
Shih
V E
VE
Levy
H L
HL
D000293:Adolescent; D028921:Biotinidase Deficiency / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005693:Galactosemias / Q000175:diagnosis; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening; D017063:Outcome Assessment, Health Care