RETROSPECTIVE STUDY ON PARENTAL RESPONSE TO THEIR CHILD'S METABOLIC DISORDER


A telephone survey of 263 parents of children with metabolic disorders
in New England addressed four questions:

1. What are the characteristics of patients followed by the metabolic centers in New England?
2. How satisfied are parents with their child's medical care? (Are the interactions with health care providers beneficial to the parents?)
3. What is the impact of the child's metabolic disorder in terms of the family's experience and the child's health and developmental outcome?
4. What are the predictors of health outcome?

Based on the Interaction Model of Client Health Behavior, the study
included elements of the client-professional interaction as well as
elements of the child's health outcome.  The nine metabolic centers in
New England recruited patients by sending letters to parents of all
patients ages 6 months to 18 years with a metabolic disorder.  (In
Massachusetts and Connecticut letters were sent to a random sample of
parents of children with PKU, but to all parents of children with other
metabolic disorders.)  A total of 315 families were successfully
contacted, of which 263 participated (84% acceptance rate).  An
additional 92 families were lost to follow-up or could not be reached by
phone.

The sample population included 3 groups: 140 children identified through
newborn screening; 39  children with mitochondrial disorders, and 84
children with other metabolic disorders.

The families of the children in the three groups were similar in terms
of background characteristics.  The mean age of the children at the time
of the study was between 8 and 8 1/2 years for all groups.  Children in
the newborn screened group were diagnosed significantly younger than
children with metabolic disorders diagnosed clinically (mean age of
diagnosis 16 = months) or children with mitochondrial disorders (mean
age of diagnosis = 33 months). There were significant differences
between the groups in terms of social support.  Parents of children in
the newborn screening group reported having more people in their social
support network and were more satisfied with the amount of social
support they received.

In general, parents were satisfied with the care their child received at
the metabolic center.  They rated their knowledge of the diagnosis and
their ability to make health related decisions as fairly high.  Less
than 7% received counseling from a genetic counselor, although most had
received information from their metabolic physician regarding their
genetic risks.  Parents reported that their primary care physicians
lacked knowledge of their child's metabolic disorder and tended not to
be involved in medical decisions related to the disorder.  The parents
reported greater satisfaction with their metabolic center than with
their primary health providers.

The newborn screened group was significantly different from the other
groups on all the outcome variables studied.  Parents of children
diagnosed through newborn screening  scored significantly lower on a
parental stress inventory.  They also reported significantly fewer areas
of daily life affected by their child's disorder.  Their children
attained significantly higher scores on the Vineland Adaptive Behavior
Scale and experienced significantly fewer hospitalizations.

The most important predictors of health outcome for the child and family
are:
1. age child diagnosed
2. level of social support
3. satisfaction with the metabolic center
4. satisfaction with the primary care physician
5. and the degree of difficulty the parent experiences in meeting the child's health care needs.

These predictor variables are in areas where interventions are possible.
 By continuing to stress early diagnosis, to develop social support
programs, and to provide up-to-date information to the broader medical
community, metabolic centers can improve the health outcome of the
parents and their child.

A summary of the cumulative data from this study is available on this
website.