Search Results: MCHLine

Items in this list may be obtained from the sources cited. Contact information reflects the most current data about the source that has been provided to the MCH Digital Library.

Displaying records 1 through 3 (3 total).

Waisbren S. 1993. Study of Psychosocial Factors in Maternal Phenylketonuria [Final report]. Boston, MA: Boston Children's Hospital, 43 pp.

Annotation: Women with phenylketonuria (PKU) are at risk for bearing children with mental retardation and/or physical disabilities. Dietary treatment during pregnancy, if initiated prior to conception, offers protection to the fetus. Many women seek medical attention after they are pregnant, however. The investigators in this study posited that psychosocial factors determine when a young woman with PKU is likely to plan her pregnancy and comply with medical recommendations for treatment. This 3-year prospective longitudinal study tested these assumptions using a stage model of decision making. The findings clearly indicate that specific psychosocial factors predict adherence to medical recommendations in maternal PKU. The two most important factors were social support and positive attitudes toward treatment. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB95-209144.

Keywords: Birth Defects, Diabetes, High risk groups, High risk pregnancy, Mental Retardation, Nutrition, Phenylketonuria (PKU), Pregnant Women, Women

Pass K. 1989. Pilot Screening for Biotinidase Deficiency in Newborns [Final report]. Albany, NY: New York State Department of Health, 37 pp.

Annotation: The goal of this study was to evaluate screening for biotinidase deficiency for incorporation into the panel of newborn screening tests in New York State. It was recommended that Biotinidase deficiency demonstrates many of the requisites for inclusion in a newborn screening program for reasons including the assay is suitable for high-volume screening; the rate of false positives is low; no false negatives were identified; the frequency of biotinidase deficiency is within the frequency range of disorders in current screening programs; cases of biotinidase deficiency were identified in the three largest ethnic categories of the population; treatment and followup are simple, inexpensive, and effective; early intervention can prevent irreversible clinical sequelae which would otherwise lead to lifetime disability or early death. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB89-230817.

Keywords: Biotinidase Deficiency, Colorimetric Testing, Hypothyroidism, Metabolic Disorders, Neonatal Screening, Newborns, Phenylketonuria (PKU)

Levy H. 1987. Study of Maternal PKU and Hyperphenylalaninemia [Final report]. Boston, MA: Children's Hospital,

Annotation: The purpose of this study was to answer three major questions confronting young women with PKU, their families, and those involved in the care of PKU: (1) Does fetal damage occur at any level of maternal hyperphenylalaninemia or only when the mother has classic PKU?; (2) does control of the maternal biochemical abnormalities during pregnancy prevent fetal damage?; and (3) what type and degree of medical and social care and followup is necessary to ensure that women with PKU are given optimal advice and treatment in regard to childbearing? The project studied the effects of maternal phenylketonuria and hyperphenylalaninemia on 58 offspring from untreated pregnancies in 22 mothers who were identified by routine screening of umbilical cord blood. Based on the findings, the researchers concluded that it is likely that fetal damage from maternal phenylketonuria can be largely and perhaps entirely prevented by dietary therapy, but therapy must begin before conception for the best chance of a normal infant. The findings highlight the need for identification and followup of young women with PKU and the need for some kind of limited re-screening program or centralized registry so that women with PKU can be identified and educated regarding the risks of maternal PKU. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB88-173711.

Keywords: Hyperactivity, Mental retardation, Nervous system diseases, Phenylketonuria (PKU), Pregnant women, Women, Young women