Search Results: MCHLine

Annotation: This report describes the Georgia Newborn Screening Program, a program requiring that every live born infant have a blood test for nine metabolic disorders (phenylketonuria, congenital hypothyroidism, maple syrup urine disease, galactosemia, tyrosinemia, homocystinuria, congenital adrenal hyperplasia, biotinidase deficiency, medium-chain acyl-CoA dehydrogenase deficiency) and for sickle cell disorders. The report provides an overview of the program; discusses its screening, testing and reporting, and diagnostic activities; and describes its follow-up programs. Education resources are also included.

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from the website.

• Undated Edition
• 2004 Edition

Keywords: Biotinidase deficiency, Blood tests, Congenital adrenal hyperplasia, Congenital hypothyroidism, Diagnosis, Galactosemia, Georgia, Homocystinuria, Maple syrup urine disease, Metabolic diseases, Neonatal screening, Newborn infants, Phenylketonuria, Resource materials, Sickle cell disease, State programs, Tyrosinemia

Annotation: This compendium includes selected resources and abstracts on the following topics: (1) general newborn screening; (2) biotinidase deficiency, (2) congenital adrenal hyperplasia, (3) congenital hypothyroidism, (4) cystic fibrosis, (5) drug exposure, (6) galactosemia, (7) hearing screening, (8) hemoglobinapathies, (9) HIV, (10) medium chain co-A dehydrogenase deficiency, (11) phenylketonuria. Additional resources are provided on newborn screening policy; ethical, legal, and social issues; costs and financing of screening newborns; laboratory analysis; research and new technologies; and treatment and management. [Funded in part by the Maternal and Child Health Bureau]

Contact: National Resource Center for Patient/Family-Centered Medical Home, American Academy of Pediatrics, 345 Park Boulevard, Itasca, IL 60143, Telephone: (847) 434-7605 Secondary Telephone: (800) 433-9016, ext. 7605 Web Site: https://www.aap.org/en/practice-management/medical-home

Keywords: Biotinidase deficiency, Congenital adrenal hyperplasia, Congenital hypothyroidism, Cystic fibrosis, Drug affected infants, EPSDT, Ethics, Financing, Galactosemia, HIV, Hearing screening, Hemoglobinopathies, Laboratories, Legal issues, Management, Neonatal screening, Phenylketonuria, Research, Technology

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)

Annotation: This study aimed to: (1) Compare the thyroid function of Down syndrome newborns with matched controls; (2) confirm the incidence of hypothyroidism in Down syndrome infants in the first year of life when treatment is most beneficial; and (3) determine whether the onset of hypothyroidism coincided with elevation of thyroid antibodies in Down syndrome children. The study had a two-part design. The first was a matched control design and the second was longitudinal. 46 Down syndrome newborns diagnosed with hypothyroidism were followed. The study's findings indicate that Down syndrome newborns have an increased incidence of thyroid function compared with the newborn population, and that in the first three years of life, the onset of hypothyroidism in Down syndrome children precedes the detection of elevated antithyroid antibody titers. Future studies should compare the incidence and onset of hypothyroidism and elevation of thyroid antibodies in the same children from birth through adolescence. [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 PB89-221824.

Keywords: Chronically ill, Down Syndrome, High risk infants, Hypothyroidism, Longitudinal studies, Neonatal screening