- The purpose of this study was to determine the possible problem
areas in families with a diet-treated phenylketonuric child. Phenylketonuria
is an inborn error of metabolism, which in the past caused
mental retardation as well as behavioral disturbances. Initially the
discovery of diet therapy eliminated the behavioral disturbances, but
not the mental retardation in phenylketonurics, primarily because of
the timing of the diagnosis. In recent years, however, a test has been
developed which identifies the disease in early infancy, and with early
use of the diet therapy, both the mental retardation and the behavioral
symptoms have been eliminated.
However, because of the strictness of the diet, and as a result
of studies which indicate that the diet-treated phenylketonuric child
may be slower in growth and lower in I. Q. than children who do not
have phenylketonuria, there exists the possibility that there may be
problems within the family related to the presence of the phenylketonuric child.
In the review of the literature, areas of "normal" childhood,
which could be problem areas, were discussed, such as: learning,
parent-child interactions, dependency and overprotection, language
development, peer relationships, family relationships, and family developmental
tasks. These areas were then discussed in terms of the
phenylketonuric child and his family.
It would be reasonable to assume that the presence of the
phenylketonuric child in the family would create a discrepancy with
regard to the concept of the child formed by the parents before the
birth of the child; create parental anxiety because of the nature of the
illness, and affect family food patterns because of the strictness of the
diet. It would be reasonable to assume that since children with a
chronic illness are often dependent, and their parents often show signs
of overprotection, that this would be true in the case of the phenylketonuric
child, also. Because of the possibility of reduced contact with
peers, and the possible lower I. Q. of the phenylketonuric child, it
would be reasonable to assume that this child might be slower in language
development. Because of the strictness of the diet, and the reported
slower growth of the phenylketonuric child, the child might he
smaller than his "normal" age-mates, show signs of fatigue more
quickly and therefore, be adversely affected in his social development.
Because of the possible presence of fear-producing stimuli in the child's environment, such as the fear and anxiety of the parents, the child
might show signs of fear and anxiety. Children with chronic illness
generally show signs of emotional instability, and the phenylketonuric
child could be expected to follow this pattern. Any of these complications
could affect the child's self-concept and self-acceptance adversely,
and could also be expected to affect his peer relationships adversely.
The phenylketonuric child could be expected to affect family relationships
in that parental concern could be directed toward this child
with less attention given to other children in the family. Also, social
relationships outside the family could be affected. The phenylketonuric child could be expected to affect the family developmental tasks
in that the added task of adjusting to the child and his problems could
take priority over other tasks that the family would be expected to
For the purpose of exploring these considerations to determine
whether problems in these areas do exist, an interview schedule was
formulated for use in interviewing families with a phenylketonuric
child five years of age or younger. Some of the questions for the interview
schedule were taken from the literature dealing directly with
the known problems of the phenylketonuric child. Others were taken
from the normative-descriptive literature involving problem areas in
"normal" childhood, as discussed above, and others were questions which were inferred from the literature concerning the family.
On the assumption that the expected problems would exist, a
discussion of possible solutions to the problems was given.