Use presumptive benefit of newborn screening for mental retardation.
"A fundamental tenet of newborn screening is proven benefit to the infant," said Donald Bailey, Ph.D., director of FPG Child Development Center, University of North Carolina at Chapel Hill.
"Many of the conditions causing mental retardation do not meet this standard," he said.
But Dr. Bailey, who received his doctorate in special education, argued that in the case of mental retardation, the concepts should be expanded to "presumptive benefit" that would allow a diagnosis in time for early child development programs.
Consumers want information about the health status of their children and their own reproductive risk, he said at a meeting sponsored by the American College of Genetics. "They have a broader view than policy makers of what constitutes a treatable disorder."
Many of these conditions aren't noticeable at birth, and only become evident over time, he said. "But early intervention in mental retardation clearly optimizes the outcome."
Early detection of mental retardation not only allows for early developmental support for the affected child, but also provides support for the parents as well as a reduction in medical costs.
Dr. Bailey gave the example of the effect on children with fragile X syndrome. While parents usually become aware of problems in the child by about age 9-14 months, there is a period of "watching and waiting" with most of the children not getting a firm diagnosis until about 32 months. "This could have been diagnosed at birth."
The late diagnosis leads parents to self-doubt about parenting skills and anger toward the medical profession, Dr. Bailey said.
Additionally, the delay is costly, with the child, on average, having 8-10 medical visits before diagnosis.
Such delays also keep the child from taking advantage of the national programs that are in place for early childhood development for mental retardation or conditions that could cause developmental delay. The National Early Intervention Longitudinal Study (NEILS) followed children in 3,000 families nationwide who participated in the program through 36 months. The yet unpublished study revealed that from one-half to two-thirds of families rated the program as excellent, with another 30%-40% rating it good.
Seventy-five percent of parents felt the program had a lot of impact on the child's development, and 20% felt it had some impact. Sixty percent of parents said they felt they were much better off with the health information provided by the program, while an additional 23% said they were somewhat better off.
This national program already is set up and is free to infants and toddlers before kindergarten, he said. "In general, parents feel very positive about this program." The potential benefits of newborn screening for mental retardation are that it will give the true incidence of a condition, the range of genotype or phenotype expression, and earliest developmental patterns; it will also aid in pushing a research agenda for new treatment, he said. "As new treatments become available, there will be faster access for individuals and families."
But there are controversies in this type of newborn screening, he said. Ethicists fear children themselves haven't consented, physicians lack medical treatment for many conditions, and psychologists worry about child and parent bonding.
There is the problem of the cost-benefit ratio. However, technologic advances may make the additional cost irrelevant, Dr. Bailey said. He recommended that research on several prototypical forms of mental retardation be conducted to determine true benefits. A national genetic nondiscrimination law also needs to be passed.
"Presently, there are sufficient data that most consumers want to know as soon as possible about the health status of their child," Dr. Bailey said. "It is known that early intervention has a positive influence on these children and provides support to families as they adapt to the challenges of caring for a child with mental retardation."
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|Title Annotation:||Clinical Rounds|
|Date:||Jun 1, 2005|
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