C. Azen et al., SUMMARY OF FINDINGS FROM THE UNITED-STATES COLLABORATIVE STUDY OF CHILDREN TREATED FOR PHENYLKETONURIA, European journal of pediatrics, 155, 1996, pp. 29-32
The Collaborative Study of children treated for phenylketonuria (PKUCS
) was conducted to investigate prospectively the effects of dietary re
striction of phenylalanine on the growth and development of these chil
dren. Patients with classic phenylketonuria were identified by newborn
screening and began treatment shortly thereafter. All were given the
restricted diet until age 6 years, when half were randomly assigned to
continue and half to discontinue dietary therapy. By age 10 years, 35
% had deviated from randomization. The effects of diagnostic, treatmen
t, and psychosocial factors on cognitive test scores were evaluated th
rough 12 years of age. After controlling for parent IQ, significant co
rrelations were noted between various measures of control of blood phe
nylalanine and their scores on intelligence, reading, spelling and beh
avior tests, but not for arithmetic or language scores. Bender Gestalt
test scores were related to phenylalanine level at the time of testin
g, but not to early treatment history. These findings strongly support
the importance of early initiation of dietary treatment and continuat
ion of therapy throughout childhood.