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 20 (61 total).

New Jersey Department of Health and Senior Services, Special Child, Adult, and Early Intervention Services. n.d.. Sickle cell disease: Information for school personnel (3rd ed.). Trenton, NJ: New Jersey Department of Health and Senior Services, Special Child Health and Early Intervention Services, 29 pp.

Annotation: This guide is meant to serve as a resource for school nurses and other school personnel to alert them to the signs and symptoms of complications of the sickle cell diseases and to educate them about what to do if they encounter a child with such signs and symptoms. The guide is divided into the following sections: (1) introduction, (2) what is sickle cell disease?, (3) warning signs, (4) what is sickle cell trait? (5) complications related to sickle cell disease, (6) medical management, (7) psychosocial issues, (8) the teacher, and (9) the social workers. The guide also includes the following appendices: (1) glossary, (2) bibliography, (3) New Jersey sickle cell/hemoglobinopathies treatment centers, and (4) New Jersey genetic centers for testing and family counseling.

Keywords: Child health, Genetic counseling, Genetic disorders, Genetic services, New Jersey, Patient care management, Psychosocial factors, School health services, Sickle cell disease, Sickle cell trait, Social workers, Teachers

American College of Medical Genetics. n.d.. Hearing loss, genetics, and your child. Bethesda, MD: American College of Medical Genetics, 2 pp.

Annotation: This brochure provides information for parents of children with hearing loss. The brochure discusses genetics and hearing loss; insurance and paying for genetic testing; what parents should do once hearing loss has been diagnosed; why it is important for children with hearing loss to be seen by a geneticist; how to prepare for the genetics appointment; and what happens at the appointment.

Contact: American College of Medical Genetics, 7220 Wisconsin Avenue, N.W., Suite 300, Bethesda, MD 20814, Telephone: (301) 718-9603 Fax: (301) 718-9604 E-mail: [email protected] Web Site: http://www.acmg.net Available from the website.

Keywords: Children, Consumer education materials, Genes, Genetic disorders, Genetic screening, Genetic services, Genetics, Hearing disorders, Hearing screening, Hearing tests, Infants

Centers for Disease Control and Prevention. n.d.. Fragile X Syndrome: Fact sheet. Atlanta, GA: Centers for Disease Control and Prevention, 2 pp.

Annotation: This fact sheet provides an overview of Fragile X syndrome (FXS). It describes what Fragile X is; explains what causes it; and discusses the conditions that are common among children with Fragile X. It also lists some of the signs of FXS and explains what parents should do if they think their child has FXS. One side of the fact sheet is in English and the other is in Spanish.

Contact: Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30329-4027, Telephone: (800) 232-4636 Secondary Telephone: (888) 232-6348 E-mail: [email protected] Web Site: http://www.cdc.gov Available from the website.

Keywords: Consumer education materials, Disabilities, Fragile X syndrome, Genetic disorders, Spanish language materials

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

Genetics in Primary Care Institute. 2014. A toolkit to improve care for pediatric patients with genetic conditions in primary care. Elk Grove Village, IL: Genetics in Primary Care Institute, 73 pp.

Annotation: This toolkit for primary care practices provides information and resources on identifying and caring for children and adolescents with genetic conditions. Topics include collecting family health history, identifying clients with suspected genetic conditions, and providing appropriate and coordinated care for clients with genetic conditions. Contents include action steps, communication tips, and additional resources. Examples from practices who participated in a quality improvement project are included. [Funded by the Maternal and Child Health Bureau]

Contact: Genetics in Primary Care Institute , National Center for Medical Home Implementation, c/o American Academy of Pediatrics , 345 Park Boulevard, Itasca, IL 60143, Telephone: (847) 434-7605 Secondary Telephone: (800) 433-9016, ext. 7605 Web Site: http://geneticsinprimarycare.org/Pages/default.aspx Available from the website.

Keywords: Adolescents with special health care needs, Children with special health care needs, Genetic counseling, Genetic disorders, Genetic history, Genetic screening, Pediatric care, Program coordination, Service integration

Pickett OK, DeFrancis Sun B. 2012. Genetics: Professional resource brief (upd. ed.). Washington, DC: National Center for Education in Maternal and Child Health, multiple items.

Annotation: This brief is an electronic guide to recent resources on genetics and genomics; genetic testing, counseling, and disorders; and newborn screening. [Funded by the Maternal and Child Health Bureau]

Contact: National Center for Education in Maternal and Child Health, Georgetown University, Telephone: (202) 784-9770 E-mail: [email protected] Web Site: https://www.ncemch.org Available from the website.

Link

Keywords: Genetic counseling, Genetic disorders, Genetic screening, Genetic services, Genetics, Genomics, Newborn screening, Resources for professionals, Testing

Centers for Disease Control and Prevention. 2011. What should you know about Fragile X Syndrome (FXS)?. Atlanta, GA: Centers for Disease Control and Prevention,

Annotation: This website provides information on the genetic disorder Fragile X Syndrome. It explains what causes it and how it is inherited; provides links to data, statistics, and articles; and discusses associated disorders and related concerns. It includes links to an online video illustrating what causes the disorder; an audio podcast about the importance of family history; free consumer education materials that can be downloaded from the website; and links to nonprofit organizations and agencies that focus on Fragile X Syndrome and related topics.

Contact: Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30329-4027, Telephone: (800) 232-4636 Secondary Telephone: (888) 232-6348 E-mail: [email protected] Web Site: http://www.cdc.gov Available from the website.

Link

Keywords: Consumer education materials, Data, Fragile X syndrome, Genetic disorders, Resource materials, Statistics

Save Babies Through Screening Foundation. 2011. One foot at a time: An introduction to newborn screening and what it can mean for your baby . [Cincinnati, OH]: Save Babies Through Screening Foundation, 1 DVD (16 min. 30 sec.).

Annotation: This video for parents and expectant parents, which is available in English and Spanish, present opinions of experts and parents on the newborn screening process. It depicts how screenings are conducted, what happens afterwards, and how newborn screening results are used. State screening policies are discussed, and parents' concerns about newborn screening are addressed. Resources for more information are provided.

Contact: Save Babies Through Screening Foundation, P.O. Box 42197, Cincinnati, OH 45242, Telephone: (888) 454-3383 E-mail: [email protected] Web Site: http://savebabies.org Available at no charge; also available from the website.

Link

Keywords: Consumer information materials, DVDs, Genetic disorders, Infant health, Multimedia, Neonatal screening, Prevention, Spanish language materials

National Institute of Child Health and Human Development. 2010. Rett syndrome. Bethesda, MD: National Institute of Child Health and Human Development,

Annotation: This web site offers basic information about Rett syndrome, including what the syndrome is, what causes it, what can be done to treat it, and how information about the MECP2 gene affects girls with the syndrome.

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 Available at no charge; also available from the website.

Link

Keywords: Consumer education materials, Developmental disabilities, Females, Genetic disorders, Research, Rett syndrome

Fajnzylber E, Hotz VJ, Sanders SG. 2010. An economic model of amniocentesis choice. Cambridge, MA: National Bureau of Economic Research, 41 pp. (NBER working paper series no. 16306)

Annotation: This paper examines the logic behind the typical recommendation by medical practitioners that only pregnant women over the age of 35 be tested for Down syndrome and other genetic disorders using amniocentesis or chorionic villus sampling (CVS) since these tests can cause miscarriage. The authors argue that such logic is incomplete, since the cost of such testing rises with age, just as the benefit does: While undergoing an amniocentesis always entails the risk of miscarriage of a healthy fetus, these costs are lower at early ages, because there is a higher probability of being able to replace a miscarried fetus with a healthy birth at a later age. In this paper, the authors present an economic model of amniocentesis choice to explore this tradeoff.

Contact: National Bureau of Economic Research, 1050 Massachusetts Avenue, Cambridge, MA 02138-5398, Telephone: (617) 868-3900 Fax: (617) 868-2742 E-mail: [email protected] Web Site: http://www.nber.org Available from the website.

Keywords: Amniocentesis, Chorionic villi sampling, Cost effectiveness, Economic factors, Genetic disorders, Genetic screening, Guidelines, Maternal age, Prenatal screening

Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. 2010. Screening U.S. college athletes for their sickle cell disease carrier status. Rockville, MD: U.S. Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, 18 pp.

Annotation: This briefing paper outlines issues surrounding the screening of young athletes for their sickle disease carrier status (sickle cell trait), a genetic condition. The report discusses research findings and reports on health outcomes of individuals with sickle sell trait, public health implications of the National Collegiate Athletic Association rule on testing athletes for sickle cell trait, and recommendations. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Maternal and Child Health Bureau, Parklawn Building, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-1080 Web Site: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ Available from the website.

Keywords: Athletes, College students, Genetic disorders, Genetic screening, Public policy, Research, Sickle cell trait, Testing

CJ Foundation for SIDS. 2010. Information for families: Medical testing for inherited disorders following a sudden unexplained death [upd ed.]. [Hackensack, NJ]: CJ Foundation for SIDS, 5 pp.

Annotation: This paper provides information to help families talk to their doctor about medical testing for inherited disorders following a sudden unexplained death. Although the paper points out that sudden unexpected infant death syndrome (SIDS) cannot be predicted or prevented, it describes certain rare, inheritable diseases that can cause sudden death in infants and children. The paper discusses the evaluation of inborn errors of metabolism and cardiac mechanisms, including Long QT Syndrome. Research and commercial testing options for families are are also presented.

Contact: CJ Foundation for SIDS, HUMC: WFAN Pediatric Center, Hackensack University Medical Center, 30 Prospect Avenue***MERGED WITH FIRST CANDLE*** 2017, Hackensack, NJ 07601, Telephone: (888) 8CJ-SIDS Secondary Telephone: (551) 996-5111 Fax: (551) 996-5326 E-mail: [email protected] Web Site: http://www.cjsids.org Available from the website.

Keywords: Child death, Consumer education materials, Genetic disorders, Infant death, SIDS, Testing

National Society of Genetic Counselors and Genetic Alliance. 2008. Making sense of your genes: A guide to genetic counseling. Chicago, IL: National Society of Genetic Counselors; Washington, DC: Genetic Alliance, 21 pp.

Annotation: This brochure for consumers provides information about genetic counseling. Topics include what genetic counseling is, why to see a genetic counselor, how to prepare for a genetic counseling visit, prenatal genetic counseling, general and pediatric genetic counseling, psychiatric genetic counseling, and cancer genetic counseling.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

Keywords: Cancer, Consumer education materials, Genetic counseling, Genetic disorders, Infants, Mental disorders, Prenatal care, Young children

Trans-NIH Fragile X Research Coordinating Group and Scientific Working Groups. 2008. Research plan on Fragile X Syndrome and associated disorders. [Bethesda, MD]: National Institutes of Health, 93 pp.

Annotation: This report describes the research goals of the working groups convened in 2008 by the National Institutes of Health (NIH) to develop comprehensive recommendations for specific, high-priority research objectives for Fragile X Syndrome (FXS) and the associated disorders of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The report provides an overview of these disorders; describes current research taking place at NIH; and lists research priorities recommended by the working groups to guide future collaborative and directed efforts regarding FXS, FXTAS, and FXPOI. A selected bibliography of Fragile X research supported by NIH is included as an appendix.

Contact: National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, Telephone: (301) 496-4000 Secondary Telephone: (301) 402-9612 Fax: (301) 496-0017 E-mail: [email protected] Web Site: http://www.nih.gov Available from the website.

Keywords: Federal initiatives, Fragile X syndrome, Genetic disorders, Goals, Research

Wisconsin Division of Public Health. 2008. Sickle cell trait [rev. ed.]. Madison, WI: Wisconsin Newborn Screening Laboratory, 2 pp.

Annotation: This brochure describes how sickle cell trait is different from sickle cell disease, and explains how it is genetically acquired. It also discusses genetic testing for the trait; offers guidance on talking with children who have the trait; and provides a list of organizations that can provide additional information on sickle cell trait and the newborn screening program in the state of Wisconsin.

Contact: Wisconsin Newborn Screening Laboratory, University of Wisconsin at Madison, 465 Henry Mall, Madison, WI 53706, Telephone: (608) 262-1293 Fax: (608) 262-3257 Web Site: http://www.slh.wisc.edu Available from the website.

Keywords: Genetic disorders, Genetic screening, Screening tests, Sickle cell trait, State programs, Wisconsin

Dickert S, Waisbren S. 2008. Newborn screening: A guide for prenatal educators. [Lebanon, NH]: New England Genetics Collaborative; Boston, MA: Children's Hospital Boston, 10 pp.

Annotation: This booklet is designed to help prenatal educators inform expectant parents about newborn screening. The booklet provides background information about newborn screening and discusses what parents need to know, credible resources for parents, the 29 disorders recommended for screening by the American College of Medical Genetics, and activities to incorporate into classes. A card about newborn screening that can be cut out and and placed in a baby book is included. [Funded by the Maternal and Child Health Bureau]

Contact: New England Genetics Collaborative , , 10 West Edge Drive, Suite 101, Durham, NH 03284, Telephone: (603) 653-6044 Web Site: http://www.negenetics.org Available from the website.

Keywords: Consumer education materials, Diagnosis, Genetic disorders, Neonatal screening, Newborn infants, Parent education, Parent education programs

New England Public Health Genetics Education Collaborative and Genetic Alliance. [2007]. Understanding genetics: A New England guide for patients and health professionals. Washington, DC; Genetic Alliance, 82 pp.

Annotation: The purpose of this manual is to provide a genetics educational resource for health professionals and consumers in the New England states and to increase awareness of specialty care in genetics. The manual opens with an introduction to genetics concepts, followed by a description of the different types and applications of genetics tests. Information on diagnosing a genetic disease; family-history taking; newborn screening; genetic counseling; indications for a genetic referral; psychological and social implications; and ethical, legal and social issues is also provided. Resources available in New England are listed, and a series of fact sheets for consumers that can be photocopied is included.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

Keywords: Diagnosis, Genetic counseling, Genetic disorders, Genetic screening, Genetics education

Exe N, Ferguson H, Krokosky A, Sawyer S, Terry SF. [2007]. Genetic testing stories. Washington, DC: Genetic Alliance, 56 pp. (Monograph series no. 2)

Annotation: This publication consists of a collection of brief stores of individuals who have undergone genetic testing for a variety of conditions. Each story is told in the individual's own voice. Topics include carrier testing, diagnostic testing, gene mapping, predictive, and prognostic. For each topic there are several stories, each focusing on a different condition.

Contact: Genetic Alliance, 4301 Connecticut Avenue, N.W., Suite 404, Washington, DC 20008-2369, Telephone: (202) 966-5557 Secondary Telephone: (800) 336-GENE Fax: (202) 966-8553 E-mail: [email protected] Web Site: http://www.geneticalliance.org Available from the website.

Keywords: Personal narratives, Carrier state, Diagnostic techniques, Genetic counseling, Genetic disorders, Genetic screening

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

Meade NB. 2007. Indiana's Genetics Services Grant: [Final report]. Indianapolis, IN: Indiana State Department of Health, 18 pp., plus appendices.

Annotation: This final report provides information about Indiana's Genetic Services Grant (also known as Genetics Implementation Grant) during the period September 1, 2002, through March 31, 2007. The project addressed the problem of fragmentation of data systems that link programs and services -- early intervention and health -- to children and adults with genetic conditions and special health care needs. The report discusses the project purpose; goals and objectives; methodology; accomplishments and evaluation; and products. [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

Keywords: Adolescents with special health care needs, Children with special health care needs, Collaboration, Data, Early intervention, Final reports, Genetic disorders, Grants, Indiana, Programs