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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 20 (23 total).

Wilson K, Charmchi P, Dworetzky B. 2016. State statutes & regulations on dietary treatment disorders identified through newborn screening. Boston, MA: Catalyst Center, the National Center for Health Insurance and Financing for Children and Youth with Special Health Care Needs, 82 pp.

Annotation: This chart provides information about state-specific legislation that mandates the coverage of medically necessary foods by employer-sponsored health insurance, Medicaid, and coverage and related services funded by other state programs such as the Supplemental Food Program for Women, Infants, and Children (WIC); Title V; or relief funds. Contents include descriptions of medical foods products, abbreviations and definitions, a list of coverage types for dietary treatments of disorders identified through newborn screening, and a list of states that provide phenylketonuria (PKU) only coverage. Details about covered services and any benefit limits or age and income restrictions are included. [Funded by the Maternal and Child Health Bureau]

Contact: Catalyst Center, the National Center for Health Insurance and Financing for Children and Youth with Special Health Care Needs, Boston University School of Public Health, Center for Advancing Health Policy and Practice, 801 Massachusetts Avenue, Boston, MA 02218-2526, Telephone: (617) 638-1930 E-mail: [email protected] Web Site: https://ciswh.org/project/the-catalyst-center/ Available from the website.

Keywords: Access to health care, Diet therapy, Dietary assessment, Financing, Food supplements, Genetic disorders, Health insurance, Medicaid, Metabolic diseases, Newborn infants, Newborn screening, Nutrition, Phenylketonuria, Postnatal care, Regulations, Special health care needs, State legislation, State programs, Title V programs, Unfunded mandates, WIC program

Tennessee Newborn Screening Program. 2007. Metabolic/genetic newborn screening program in Tennessee: Guide for practitioners. Nashville, TN: Tennessee Newborn Screening Program, Tennessee Department of Health, 10 pp.

Annotation: This guide describes the metabolic and genetic newborn screening program in Tennessee. Topics covered include (1) Tennessee law; (2) excerpts taken from rules and regulations; (3) hospital responsibility; (4) state laboratory and maternal and child newborn screening follow-up section responsibilities; (5) weekend and holiday calls; (6) primary care provider responsibilities and follow-up; (7) list of endocrinologists, genetic, and sickle cell centers; and (8) metabolic and genetic disorders.

Contact: Tennessee Department of Health, Maternal and Child Health Section , Fifth Floor, Cordell Hull Building, 425 Fifth Avenue, North, Nashville, TN 37247, Telephone: (615) 741-7353 Fax: (615) 741-1063 E-mail: Theodora. [email protected] Web Site: http://www.state.tn.us/health/ Available from the website.

Keywords: Genetic disorders, Genetic screening, Hospitals, Legislation, Metabolic diseases, Neonatal screening, Primary care, Screening tests, State programs, Tennessee

Levy H. 2004. Expanded newborn screening for metabolic disorders: Model program for integration of health care services—Final report. Boston, MA: Children's Hospital Boston, 47 pp., plus appendices (ca. 75 pp.).

Annotation: This final report describes a project to develop an optimal model of care for children with metabolic disorders, incorporating newborn screening in conjunction with follow-up in a community-based medical home that is linked to a metabolic center and community services. Report sections include the project identification; an abstract including the purpose of the program, goals and objectives, methodology, methods of enrollment, and data analysis; evaluation; results and outcomes; discussion; a list of publications and products generated by the project; future plans and follow-up; and type and amount of support and resources needed to replicate the project. Appendices include examples of screening and treatment protocols, representative published articles, and surveys and questionnaires. [Funded by the Maternal and Child Health Bureau]

Keywords: Children with special health care needs, Community based services, Final reports, MCH research, Medical home, Metabolic diseases, Neonatal screening, Newborn infants, Program development

Georgia Division of Public Health, Georgia Newborn Screening Program. 2004. Georgia newborn screening manual for metabolic diseases and hemoglobinopathies. Atlanta, GA: Georgia Newborn Screening Program, Georgia Division of Public Health, 54 pp.

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.

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

National Institute of Child Health and Human Development and National Institutes of Health, Office of Medical Applications of Research. 2001. Report of the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and Management. Bethesda, MD: National Institute of Child Health and Human Development, 335 pp.

Annotation: This report provides information from the NIH Consensus Development Conference on Phenylketonuria (PKU) Screening and Management, including the consensus statement developed by the participants, abstracts of presentations made at the conference, and the report of the consensus development panel. Appendices provide additional information about PKU. [Sponsored in part by the Maternal and Child Health Bureau.]

Contact: Eunice Kennedy Shriver National Institute of Child Health and Human Development, Information Resource Center, P.O. Box 3006, Rockville, MD 20847, Telephone: (800) 370-2943 Secondary Telephone: Fax: (866) 760-5947 E-mail: [email protected] Web Site: http://www.nichd.nih.gov

Keywords: Conferences, Genetic screening, Hereditary diseases, Interdisciplinary training, Metabolic diseases, Neonatal screening, Nutrition, Phenylketonuria, Research, Therapeutics

California Department of Health Services, Genetic Disease Branch. 1997. Cost and availability of dietary treatment of phenylketonuria (PKU): Report of a national survey. Berkeley, CA: California Department of Health Services, Genetic Disease Branch, ca. 200 pp.

Annotation: This survey discusses the costs of treating children with phenylketonuria (PKU), who need low protein formula and food products. A questionnaire was sent to parents of children with PKU, information about reimbursement was collected from private insurance companies, state health agencies were surveyed on their diet provision policies and applicable state laws, data on available dietary products was collected from manufacturers, and the costs of feeding a child with PKU were calculated using data on food costs from the U.S. Department of Agriculture. The survey ends with four appendices providing the parents' questionnaire, correspondence with the Health Insurance Association of America, state laws relating to a PKU diet, and an American Academy of Pediatrics statement. [Funded by the Maternal and Child Health Bureau]

Keywords: Child health, Child nutrition, Children with special health care needs, Costs, Diet therapy, Health policy, Metabolic diseases, Phenylketonuria

Pass KA, Levy HL, eds. 1995. Early hospital discharge: Impact on newborn screening. Atlanta, GA: Council of Regional Networks for Genetic Services, 291 pp.

Annotation: These proceedings of a March 31–April 1, 1995, conference held in Washington, D.C., address the problems encountered by newborn screening programs when specimens must be taken early in an infant's life because of early hospital discharge policies due to the demands of managed care. Papers discuss the current situation in newborn screening, concerns with specific diseases, and potential strategies. Diseases discussed are PKU, sickle cell disease, homocystinuria, maple syrup urine disease, congenital hypothyroidism, congenital adrenal hyperplasia, and galactosemia. [Funded by the Maternal and Child Health Bureau]

Keywords: Conference proceedings, Length of stay, Metabolic diseases, Neonatal screening, Patient discharge

National Center for Education in Maternal and Child Health. 1991. Nutrition services for children with special health needs: Abstracts of active and completed projects FY 1985-1991. Washington, DC: National Center for Education in Maternal and Child Health, 220 pp.

Annotation: This monograph provides information on programs supported by the federal Maternal and Child Health Bureau to improve nutrition services for children with special health needs from 1985 to 1991. The genetics, demonstration, and training projects supported through special projects of regional and national significance (SPRANS) in which nutrition is the primary focus or a significant interdisciplinary component are identified and described. The appendices include a list of materials related to nutrition services for children with special health needs produced by active and completed SPRANS, and lists of nutrition professionals at the regional and state level who could provide information on state and local resources. [Funded by the Maternal and Child Health Bureau]

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

Keywords: Children with developmental disabilities, Children with special health care needs, Community health services, Interdisciplinary training, MCH training, Metabolic diseases, Nutrition, Nutritionists, Pediatric pulmonary care, Professional education, Public health nutritionists

Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS. 1989. The metabolic basis of inherited disease (6th ed). New York, NY: McGraw-Hill Book Company,

Annotation: This book is designed to provide professional clinicians with the knowledge of how genes control metabolic processes. This is also a helpful resource to those who are interested in learning about a specific metabolic disease.

Keywords: Genetics, Metabolic diseases

National Center for Education in Maternal and Child Health. 1986. State treatment centers for metabolic disorders. Washington, DC: National Center for Education in Maternal and Child Health,

Andrews LB. 1985. Legal liability and quality assurance in newborn screening. Chicago: IL: American Bar Foundation, 153 pp.

Annotation: This book contains a collection of articles about quality assurance in newborn screening programs. The articles aim to answer three main questions: What types of errors are occurring in newborn screening programs that could give rise to lawsuits? What quality control mechanisms would help assure that screening programs would be less likely to make errors? What legal changes would make negligence less likely to occur and would assure that when negligence did occur the legal action proceeded in an equitable manner? [Funded by the Maternal and Child Health Bureau]

Keywords: Legal issues, Liability, Metabolic diseases, Neonatal screening, Quality assurance

Quilligan EJ. 1983. Pregnancy, birth, and the infant. Bethesda, MD: National Institute of Child Health and Human Development, 69 pp. (Child health and human development: An evaluation and assessment of the state of the science; v. II)

Annotation: This report discusses maternal medical disorders during pregnancy, adolescent pregnancy, environmental risk factors in pregnancy, evaluation of fetal status, normal and premature labor, fetal distress and hypoxic birth injury, respiratory distress syndrome, neonatal infections, erythroblastosis fetalis and bilirubin encephalopathy, extreme prematurity, intracranial hemorrhage, persistent fetal circulation, necrotizing enterocolitis, metabolic disorders in the infant, and neonatal pharmacology. Research recommendations are provided.

Keywords: Adolescent pregnancy, Birth injuries, Environmental exposure, Fetal erythroblastosis, Infants, Labor, Metabolic diseases, Neonatal diseases, Persistent fetal circulation syndrome, Pharmacology, Pregnancy, Premature labor, Prematurity, Research, Respiratory distress syndrome

Bureau of Community Health Services. 1977, 1978. Newborn screening for genetic-metabolic diseases: Progress, principles and recommendations. Rockville, MD: Bureau of Community Health Services, 22 pp.

Annotation: This pamphlet reviews new developments in the screening of phenylketonuria since the 1966 publication of "Recommended Guidelines for PKU Programs for the Newborn" by the U.S. Department of Health, Education, and Welfare. The publication is intended primarily for those involved in the organization and regulation of screening as a service. Part 1 covers new developments, including ethical and legal issues, Part 2 contains recommendations for a central organization for screening, laboratory responsibilities, and phenylketonuria screening. Part 3 addresses test for other genetic-metabolic diseases.

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from Hathitrust via participating libraries. Document Number: HRSA Info. Ctr. MCHB048.

Keywords: Genetic disorders, Metabolic diseases, Neonatal screening, Screening

Levy HL. 1975. Genetic screening for inborn errors of metabolism. Rockville, MD: U.S. Bureau of Community Health Services, 106 pp.

Annotation: This publication describes genetic screening methods and programs, including an evaluation of current genetic screening, major problems, and the future. It also discusses screening for a wide variety of specific disorders.

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

Keywords: Metabolic diseases, Neonatal screening

Rosenstock IM, Childs B, Simopoulos AP. 1975. Genetic screening: A study of the knowledge and attitudes of physicians. Washington, DC: National Academy of Sciences, 89 pp.

American Academy of Pediatrics, Committee on Children with Handicaps. 1971. The pediatrician and the child with mental retardation. Evanston, IL: American Academy of Pediatrics, 180 pp.

Annotation: The purpose of this book is to provide the pediatrician with up-to-date information and resources to assume a role in the treatment of children with mental retardation. The contents discuss mental retardation from the perspectives of diagnosis and evaluation, health services, genetic considerations, metabolic aspects, community services, residential care, legal considerations, psychological aspects, speech and language development, educational aspects, psychiatric considerations, nursing services, nutrition, physical therapy, and counseling.

Keywords: Children, Community programs, Counseling, Diagnosis, Evaluation, Genetics, Health services, Language development, Legal issues, Mental retardation, Metabolic diseases, Nursing services, Nutrition, Pediatricians, Physical therapy, Psychological characteristics, Residential care, Speech development

O'Brien D. 1970. Rare inborn errors of metabolism in children with mental retardation. Washington, DC: U.S. Department of Health, Education, and Welfare, Maternal and Child Health Service, 125 pp.

Annotation: This publication is intended to offer to pediatricians and allied professions interested in mental retardation clinical information and diagnostic guidelines on a group of individually rare syndromes on which little information is available. The descriptions in this booklet are mostly confined to states with ill defined physical signs in which the diagnosis depends on laboratory confirmation. In each case, the clinical and laboratory findings are briefly stated, together with a summary of current thought on the underlying biochemical disorder, the genetics, and the treatment. The diagnostic and screening tests are outlined with the individual syndromes and are also set out in greater detail in a special section. A brief summary of the use of amniocentesis and tissue culture techniques to detect cytogenetic and biochemical aberrations is also included.

Keywords: Allied health personnel, Amniocentesis, Biochemical genetics, Diagnostic tests, Mental retardation, Metabolic diseases, Pediatricians, Tests

Davison WC, Levinthal JD. 1969. The compleat pediatrician: Practical, diagnostic,therapeutic and preventive pediatrics for the use of general practitioners, pediatricians, interns, and medical students. (9th ed.). Durham, NC: Duke University Press, ca. 300 pp.

Annotation: This book describes a wide range of pediatric conditions and other issues related to pediatric care, including respiratory conditions, nutritional and abdominal conditions; skin, contagious, and exanthem conditions; circulatory, metabolic, and glandular conditions; urogenital conditions; bone, joint, and muscle conditions; laboratory tests, feeding, diets, nursing, and therapy; growth and development; history, and physical exam; and chemotherapy and drugs.

Keywords: Bone diseases, Breastfeeding, Cardiovascular diseases, Child development, Child health, Communicable disease, Diet, Drug therapy, Feeding, Growth monitoring, Joint diseases, Medicine, Metabolic diseases, Muscular diseases, Nutrition, Pediatric care, Pediatrics, Physical examination, Respiratory disorders, Skin diseases, Tests, Urogenital diseases

Anderson JA, Swaiman KF, eds. 1967, r1969. Phenylketonuria and allied metabolic diseases: Proceedings of a conference held at Washington, D.C. April 6-8, 1966. Washington, DC: U.S. Children's Bureau, 239 pp. (Children's Bureau publication; no. 3)

University of Alabama Medical Center. 1967. International Seminar on Medical Genetics, August 31-September 3, 1966. Washington, DC: U.S. Children's Bureau; reprinted from the Alabama Journal of Medical Sciences. 3(4):351-518, 530. October 1996, 167 pp.

Annotation: These proceedings discuss genetics in expanding health programs for mothers and children; biochemical genetics in medicine; cleft lip and cleft palate in Iceland; genetics studies in human dental caries; old and new data on the genetics of human populations; medical and dental findings in the Brandywine Isolate; genetical investigations in mental retardation; clinical genetics at a population level in the ethnicity of disease in the United States; gene dosage effects in man; dermatoglyphics and chromosomes; reflections on 20 years experience of genetic counseling; gene function; diseases at the molecular level; diagnosis and management of metabolic abnormalities; epidemiology of selected genetic diseases; clinical cytogenetics; and indications for chromosome analyses.

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

Keywords: Biochemical genetics, Cleft lip, Cleft palate, Conferences, Cytogenetics, Dental caries, Disease, Epidemiology, Ethnic factors, Genetics, Iceland, Mental retardation, Metabolic diseases
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This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant number U02MC31613, MCH Advanced Education Policy, $3.5 M. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.