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[Note: A selected list of current papers on Down syndrome is published in each issue of Down Syndrome Quarterly. This feature is edited by David Smith MD. (DS Center of Wisconsin in Milwaukee WI.)]

References marked with an asterisk are those added to the 1999 revision of the Health Care Guidelines

A. Overview

Barclay, A. (Ed.). (1995). Caring for individuals with Down syndrome and their families, Report of the Third Ross Roundtable on Critical Issues in Family Medicine, Columbus, Ohio: Ross Products Division, Abbott Laboratories.

Giesinger, C., for the Canadian Down Syndrome Society. Annotated bibliography of journal articles on Down syndrome for parents and primary caregivers. Calgary, AB: CDSS, no date. [Telephone 403-270-8500]

*Cohen, W. I. (1999). Down syndrome: Care of the child and family. In: Levine, M. D., Carey, W. B., & Crocker, A. C. (Eds.), Developmental Behavioral Pediatrics. (3rd ed.). Philadelphia: W. B. Saunders.

Cooley, W. C., & Graham, J. M. (1991). Down syndrome - An update and review for the primary care physician. Clinical Pediatrics, 30 (4), 233-253.

Denholm, C. J. (Ed.). (1991). Adolescents with Down syndrome: International perspectives on research and program development. Victoria, BC: University of Victoria.

*Hassold, T., & Patterson, D. (1998). Down syndrome: A promising future, together. New York: Wiley-Liss.

Lott, I. T., & McCoy, E. E. (1991). Down syndrome: Advances in medical care. New York: Wiley-Liss.

*Nadel, L., & Rosenthal, D. (1995). Down syndrome: Living and learning in the community. New York: Wiley-Liss.

Pueschel, S. M., & Pueschel, J. K. (1992). Biomedical concerns in persons with Down syndrome. Baltimore: Paul Brookes.

*Pueschel, S. M., & Sustrova, M. (Eds.). (1997). Adolescents with Down syndrome: Toward a more fulfilling life. Baltimore, Paul Brookes.

*Roizen, N. J. (Ed.). (1996). Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 2 (2).

*Roizen, N. (1997). Down syndrome. In Batshaw, M. L. (Ed.), Children With Disabilities (4th ed.). Baltimore: Paul Brookes.

*Tolmie, J. L. (1997). Down syndrome and other autsomal trisomies. In Rimoin, D. L., Connor, J. M., & Pyeritz, R. E., Emery and RimoinÕs Principles and Practice of Medical Genetics. New York: Churchill Livingstone.

Rogers, P. T., & Coleman, M. (1992). Medical care in Down syndrome. New York: Marcel Dekker.

*Saenz, R. B. (1999). Primary care of infants and young children with Down syndrome. American Family Physician, 59 (2), 381-390, 392, 395-396. Van Dyke, D. C. (1989). Medical problems in infants and young children with Down syndrome: Implications for early services. Infants and Young Children, 1 (3), 39-50.

*Vessey, J. A. (1996). Down syndrome, In Jackson, P. L., & Vessey, J. A. Primary care of the child with a chronic condition. St. Louis: Mosby.

B. Adult Health

Chicoine, B., McGuire, D., Hebein, S., & Gilly, D. (1994). Development of a clinic for adults with Down syndrome. Mental Retardation. 32 (2).100-106.

*Piachaud, J., Rodhe, J., & Pasupathy, A. (1998). Health screening for people with DownÕs syndrome. Journal of Intellectual Disability Research, 42 (Pt 5), 341-345.

C. Other Checklists and Protocols

American Academy of Pediatrics Committee on Genetics, ÒHealth guidelines for children with Down syndromeÓ (1994). Pediatrics, 93, 855-859.

Chicoine, B., McGuire, D., Hebein, S., & Gilly, D. (1994). Development of a clinic for adults with Down syndrome. Mental Retardation, 32 (2), 100-106.

*Crocker, A. (Ed.). Healthwatch for persons with Down syndrome II. Available on world wide web on the National Down Syndrome Congress site: www. members.carol.net/~ndsc/hw_table.html

Pueschel, S. M., Anneren, G., Durlach, R., Flores, J., Sustrova, M., & Verma, I. C. (1995). Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH). Acta Paediatrica, 84 (7), 823-7.

D. Specifically for Families

*Beck, M. (1999). Expecting Adam, New York Times.

*Berube, M. (1998). Life As We Know It: A Family, A Father, and an Exceptional Child. New York: Vintage.

*Bruni, M. (1998). Fine Motor Skills in Children with Down Syndrome: a Guide for Parents and Professionals. Bethesda: Woodbine House.

Kumin, L. (1994). Communication Skills for Children with Down Syndrome: A Guide for Parents. Bethesda: Woodbine House.

*La Leche League International, (1997). Breastfeeding a Baby with Down Syndrome (pamphlet). La Leche League International.

*Selikowitz, M. (1997). Down Syndrome: The Facts. New York: Oxford.

*Stray-Gundersen, K. (1995). Babies with Down Syndrome. (2nd Ed.). Bethesda: Woodbine House. Van Dyke, D. C., Mattheis, P., Eberly, S. S., & Williams, J. (Eds.). (1995). Medical and Surgical Care for Children with Down Syndrome: A Guide for Parents. Bethesda: Woodbine House.

*Winders, P. (1997). Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and Professionals. Bethesda: Woodbine House.

E. Anesthesia

DeLeon, S. Y., Ilbawi, M. N., Egel, R. T., et al. (1991). Perioperative spinal canal narrowing in patients with DownÕs syndrome. Annals of Thoracic Surgery, 52 (6), 1325-1328.

*Gakhal, B., Scott, C. S., & MacNab, A. J. (1998). Comparison of morphine requirement for sedation in DownÕs syndrome and non-DownÕs syndrome patients following paediatric cardiac surgery. Paediatric Anaesthesia. 8 (3), 229-233.

Kobel, M., Creighton, R. E., & Steward, D. J. (1982). Anaesthetic considerations in DownÕs syndrome: Experience with 100 patients and a review of the literature. Canadian Anaesthetists Society Journal, 29, 593-599.

*Litman, R. S., Zerngast, B. A., & Perkins, F. M. (1995). Preoperative evaluation of the cervical spine in children with Trisomy-21: Results of a questionnaire study. Paediatric Anaesthesia, 5, 335-361.

*Mitchell, V., Howard, R., & Facer, E. (1995). DownÕs syndrome and anaesthesia. Paediatric Anaesthesia, 5, 379-384.

Williams, J. P., Somerville, G. M., Miner, M. E., et al. (1987). Atlanto-axial subluxation and Trisomy 21: Another perioperative complication. Anesthesiology, 67, 253-4.

F. Audiology

Balkany, T. J., Downs, M. P., Jafek, B. W., et al. (1979). Hearing loss in DownÕs syndrome. Clinical Pediatrics, 18 (2), 116-118.

Buchanan, L. H. (1990). Early onset of presbycusis in Down syndrome. Scandinavian Audiology, 12 (2), 103-10.

Dahle, A. J., & McCollister, F. P. (1988). Hearing and otologic disorders in children with Down syndrome. Journal of Mental Deficiency Research, 32, 333-336.

Diefendorf, A. O., Bull, M. J., Casey-Harvey, D., Miyamoto, R. T., Pope, M. L., Renshaw, J. J., Schreiner, R. L., & Wagner-Escobar, M. (1995). Down syndrome: A multidisciplinary perspective. Journal of the American Academy of Audiology, 6 (1), 39-46.

Evenhuis, et al. (1992). Hearing loss in middle-age persons with Down syndrome. American Journal of Mental Retardation, 97 (1), 47-56. Glass, R. B., Yousefzadeh, D. K., & Roizen, N. J. (1989). Mastoid abnormalities in Down syndrome. Pediatric Radiology, 19 (5), 311-2.

*Hassmann, E., Skotnicka, B., Midro, A. T., & Musiastowicz, M. (1998). Distortion products otoacoustic emissions in diagnosis of hearing loss in Down syndrome. International Journal of Pediatric Otorhinolaryngology, 45 (3), 199-206.

Roizen, N. J., Wolters, C., Nicol, T., & Blondis, T. (1992). Hearing loss in children with Down syndrome. Pediatrics, 123, S9-12.

*Werner, L. A., Mancl, L. R., & Folsom, R. C. (1996). Preliminary observations on the development of auditory sensitivity in infants with Down syndrome. Ear and Hearing, 17 (6), 455-68.

G. Cardiology

Baciewicz, F. A., Jr., Melvin, W. S., Basilius, D., & Davis, J. T. (1989). Congenital heart disease in DownÕs syndrome patients: A decade of surgical experience. Thoracic & Cardiovascular Surgeon, 37 (6), 369-71.

Clapp, S. K., Perry, B. L., Farooki, Z. Q., et al. (1987). Surgical and medical results of complete atrioventricular canal surgery: A ten year review. American Journal of Cardiology, 59, 454-8.

*Freeman, S. B., Taft, L. F., Dooley, K. J., et al. (1998). Population-based study of congenital heart defects in Down syndrome. American Journal of Medical Genetics, 80 (3), 213-7.

Geggel, R. L., et al. (1993). Clinical and laboratory observations: Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. Journal of Pediatrics, 122 (5), 821-823.

Goldhaber, S. Z., Brown, W. D., & St. John Sutton, M. G. (1987). High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with DownÕs syndrome. Journal of the American Medical Association, 258, 1793-1795.

Marino, B., & Pueschel, S. M. (1996). Heart Disease in Persons with Down Syndrome. Baltimore: Paul Brookes.

Martin, G. R., Rosenbaum, K. N., & Sardegna, K. M. (1989). Prevalence of heart disease in Trisomy 21: An unbiased population. (Abstract) Pediatric Research, 25, 255A.

Morris, et al. (1992). Down syndrome affects results of surgical corrections of complete atrioventricular canal. Pediatric Cardiology, 13 (2), 80-84.

Pueschel, S. M., & Werner, J. C. (1994). Mitral valve prolapse in persons with Down syndrome. Research in Developmental Disabilities, 15 (2), 91-7.

*Reller, M. D., & Morris, C. D. (1998). Is Down syndrome a risk factor for poor outcome after repair of congenital heart defects? Journal of Pediatrics, 132 (4), 738-741.

Rizzioli, et al. (1992). Does Down syndrome affect the results of surgically managed atrioventricular canal defects. Journal of Thoracic and Cardiovascular Surgery, 104, 945-953.

Rosenberg, H. C., Jung, J. H., Soltan, H. C., Li, M. D., & Sheridan, G. (1994). Cardiac screening of children with DownÕs syndrome. Canadian Journal of Cardiology, 10 (6), 675-7.

H. Communication

Chapman, et al. (1991). Language skills of children and adolescents with Down syndrome: I. Comprehension. Journal of Speech and Hearing Research, 34, 1106-1120.

Cooper, S. A., & Collacott, R. A. (1995). The effect of age on language in people with DownÕs syndrome. Journal of Intellectual Disability Research, 39 (Part 3), 197-200.

Gibbs, E. D., Springer, A. S., Cooley, W. C., et al. (1990). Total communication for children with Down syndrome (Abstract). Annual Convention. American Speech-Language-Hearing Association. November.

Kumin, L. (1986). A survey of speech and language pathology services for Down syndrome: State of the art. Applied Research in Mental Retardation, 7, 491-499.

Kumin, L., Councill, C., & Goodman, M. (1994). A longitudinal study of the emergence of phonemes in children with Down syndrome. Journal of Communication Disorders, 27 (4), 293-303.

Marcell, M. M., Ridgeway, M. M., Sewell, D. H., & Whelan, M. L. (1995). Sentence imitation by adolescents and young adults with DownÕs syndrome and other intellectual disabilities. Journal of Intellectual Disability Research, 39 (Part 3), 215-232.

Miller, J. (1987). Language and communication characteristics of children with Down syndrome. In: Pueschel, S. M., et al. New Perspectives in Down Syndrome. Baltimore, MD: Brookes Publishing.

*Miller, J. F., Leddy, M., & Leavitt, L. A., (Eds.). (1998). Improving the Communication of People with Down Syndrome. Baltimore: Paul Brookes. Mundy, P., Kasari, C., Sigman, M., & Ruskin, E. (1995). Nonverbal communication and early language acquisition in children with Down syndrome and in normally developing children. Journal of Speech and Hearing Research, 38 (1), 157-67.

*Rondal, J. A. (1995). Exceptional Language Development in Down Syndrome: Implications for the Cognition-Language Relationship. New York: Cambridge.

I. Dental

Barnett, M. L., Press, K. P., Friedman, D., et al. (1986). The prevalence of periodontitis and dental caries in a DownÕs syndrome population. Journal of Periodontology, 57 (5), 288-93.

Giannoni, M., Mazza, A. M., Botta, R., & Marci, T. (1989). Dental problems in DownÕs syndrome. Overview and specific pathology. Dental Cadmos, 57 (12), 70-80.

Modeer, T., Barr, M., & Dahllof, G. (1990). Periodontal disease in children with DownÕs syndrome. Scandinavian Journal of Dental Research, 98 (3), 228-34.

*Pilcher, E. S. (1998). Dental care for the patient with Down syndrome. Down Syndrome Research and Practice, 5 (3), 111-116. Randell, et al. (1992). Preventive dental health practices of non-institutionalized Down syndrome children: A controlled study. Journal of Clinical Pediatric Dentistry, 16 (3), 225-229.

Vittek, J., Winik, S., Winik, A., Sioris, C., Tarangelo, A. M., & Chou, M. (1994). Analysis of orthodontic anomalies in mentally retarded developmentally disabled (MRDD) persons. Special Care in Dentistry, 14 (5), 198-202.

J. Development

Harris, S. R. (1980). Transdisciplinary therapy model for the infant with DownÕs syndrome. Physical Therapy, 60, 420-23.

*Hines, S., & Bennett (1996). Effectiveness of early intervention for children with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 2 (2), 96-101. Rogers, M. J. (1990). Functional management of gross motor development of children with Down syndrome. Developmental Medicine and Child Neurology, 90, 32 (suppl. 62), 44-45.

*Wishart, J. G. (1998). Development of children with Down syndrome: Facts, findings, the future. International Journal of Disability, Development, & Education, 45 (3).

K. Ear, Nose and Throat/Sleep Apnea

Aboussouan, et al. (1993). Hypoplastic trachea in DownÕs syndrome. American Review of Respiratory Disease, 147, 72-75.

*Bower, C. M., & Richomon, D. (1995). Tonsillectomy and adenoidectomy in patients with Down syndrome. International Journal of Pediatric Otorhinolaryngology, 33, 141-148.

*Goldstein, N. A., Armfield, D. R., Kingsley, L. A., Borland, L. M., et al. (1998). Postoperative complications after tonsillecotomy and adenoidectomy in children with Down syndrome. Archives of Otolaryngology - Head and Neck Surgery, 124 (2), 171-6.

Harley, E. H., & Collings, M. D. (1994). Neurological sequelae secondary to atlantoaxial instability in Down syndrome. implications in otolaryn-gologic surgery. Archives of Otolaryngology - Head and Neck Surgery, 120 (2), 159-65.

Kraus, E. M. (1996). Down syndrome and the otolaryngologist: Clinical characteristics and recommendations for management. Chapter in Hotaling & Stankiewicz, Pediatric Otolaryngology for the General Otolaryngologist. New York:Igaku-Shoin..

*Levanon, A., Tarsiuk, A., & Tal, A. (1999). Sleep characteristics in children with Down syndrome. Journal of Pediatrics, 134 (6), 755-760.

Marcus, C. L., Keens, T. G., et al. (1991). Obstructive sleep apnea in children with Down syndrome. Pediatrics, 88 (1), 132-9.

Roizen, N. J., Martich, V., Ben-Ami, T., Shalowitz, M. U., & Yousefzadeh, D. K. (1994). Sclerosis of the mastoid air cells as an indicator of undiagnosed otitis media in children with DownÕs syndrome. Clinical Pediatrics, 33 (7), 439-43.

Pappas, D. G., Flexer, C., & Shackelford, L. (1994). Otological and habilitative management of children with Down syndrome. Laryngoscope, 104 (9), 1065-70.

Southall, D. P., Stebbins, V. A., et al. (1987). Upper airway obstruction with hypoxaemia and sleep disruption in Down syndrome. Developmental Medicine and Child Neurology, 29, 734-742.

Stebbins, V. A., Dennis, J., et al. (1991). Sleep related upper airway obstruction in a cohort with DownÕs syndrome. Archives of Disease in Childhood, 66 (11), 1333-8.

L. Education

Brown, L., Long, E., Udbari-Solner, A., et al. (1989). The home school: Why students with severe intellectual disabilities must attend the schools of their brothers, sisters, friends, and neighbors. Journal of the Association for Persons with Severe Handicaps, 14 (1), 1-7.

Buswell, B. E., & Venerls, J. (1989). Building integration with the IEP. Colorado Springs: PEAK Parent Center, Inc.

*Laws, G., Buckley, S., MacDonald, J., & Bird, G. (1995). The influence of reading instruction on language and memory development in children with Down syndrome. Down Syndrome Research and Practice, 3 (2), 59-64.

McDonnell, J. J., Wilcox, B., & Hardman, M. L. (1991). Secondary Programs for Students with Developmental Dis-abilities. Boston: Allyn & Bacon, Inc.

Murray-Seegert, C. (1989). Nasty Girls, Thugs, and Humans Like Us: Social Relations Between Severely Disabled and Nondisabled Students in High School. Baltimore: Paul Brookes.

*Rondal, J. A., Perera, J., & Nadel, L. (Eds.). (1996). DownÕs Syndrome: Psycho-logical, Psychobiological, and Socio-Educational Perspectives. New York: Singular Pub Group.

Stainback, W., & Stainback, S. (1990). Support Networks for Inclusive Schooling. Baltimore: Brookes.

Wilcox, B. (1991). School restructuring and the re-thinking of ÔSpecial Education.Õ Down Syndrome News. National Down Syndrome Congress, June, 65-66.

M. Endocrinology

*Anneren, G., Tuvemo, T., Sava, V. R., et al. (1999). Growth hormone treatment in young children with DownÕs syndrome: Effects on growth and psychomotor development. Archives of Diseases in Childhood, 80, 334-338.

*Anwar, A. J., Walker, J. D., & Frier, B. M. (1998). Type 1 diabetes mellitus and DownÕs syndrome: Prevalence management and diabetic compli-cations. Diabet Med, 15 (2), 160-3.

Cutler, A. T., Benezra-Obeiter, R., & Brink, S. J. (1986). Thyroid function in young children with Down syndrome. American Journal of Diseases of Childhood, 140, 479-483.

Fort, P., Lifshitz, F., et al. (1984). Abnormalities of thyroid functions in infants with Down syndrome. Journal of Pediatrics, 104, 545-549.

*Karlsson, B., Gustafsson, J., Hedov, G., Ivarsson, S. A., & Anneren, G. (1998). Thyroid dysfunction in DownÕs syndrome: Relation to age and thyroid autoimmunity. Archives of Diseases in Childhood, 79 (3), 242-245.

Mitchell, C., Blachford, J., Carlyle, M. J., & Clarson, C. (1994). Hypothyroidism in patients with Down syndrome. Archives of Pediatrics and Adolescent Medicine, 148 (4), 441-2.

Pueschel, S. M. (1985). Thyroid dysfunction in Down syndrome. American Journal of Diseases of Childhood, 139 (6), 636-39.

*Pueschel, S. M., Sustrova, & Kostalova, L. (1998). Hyperthyroidism in children with Down syndrome. Down Syndrome Quarterly, 3 (2), 1-4.

Rubello, D., Pozzan, G. B., Casara, D., Girelli, M. E., Boccato, S., Rigon, F., Baccichetti, C., Piccolo, M., Betterle, C., & Busnardo, B. (1995). Natural course of subclinical hypothyroidism in DownÕs syndrome: Prospective study results and therapeutic considerations. Journal of Endo-crinological Investigation, 18 (1), 35-40.

Selikowitz, M. (1993). A five-year longitudinal study of thyroid function in children with Down syndrome. Developmental Medicine and Child Neurology, 35, 396-401.

Stoll, C., Alembik, Y., Dott, B., & Finck, S. (1989). Anomalies in thyroid function in children with Trisomy 21. Journal de Genetique Humaine, 37 (4-5), 389-93.

Zulke, C., Thies, U., Braulke, I., Reis, A., & Schirren, C. (1994). Down syndrome and male fertility: PCR-derived fingerprinting, serological and andro-logical investigations. Clinical Genetics, 46 (4), 324-6

N. Nutrition & Feeding/Gastrointestinal

*Carlsson, A., Aexlsson, I., Borulf, S., et al. (1998). Prevalence of IgA-antigliadin and IgA-antiendomysium antibodies related to celiac disease in children with Down syndrome. Pediatrics, 101 (2), 272-5.

*George, E. K., Mearin, M. L., Bouquet, J., et al. (1996). High frequency of celiac disease in Down syndrome. Journal of Pediatrics, 128 (4), 555-557.

**Hopman, E., Csizmadia, C. G., Bastiani, W. F., et al. (1998). Eating habits of young children with Down syndrome in the Netherlands: Adequate nutrient intakes but delayed introduction of solid food. Journal of the American Dietetic Association, 98 (7), 970-974. Knox, G. E., & Bensel, R. W. (1972). Gastrointestinal malformations in DownÕs syndrome. Minnesota Medicine, 55, 542-4.

**Luke, A., Roizen, N. J., Sutton, M., & Schoeller, D. A. (1994). Energy expenditure in children with Down syndrome: Correcting metabolic rate for movement. Journal of Pediatrics, 125 (5 Pt 1), 825-838.

*Medlen, J. (1999). From milk to table foods: A parentÕs guide to introducing food textures. Disability Solutions, 3 (3), 1-9.

*Rubin, S. S., Rimmer, J. H., Chicoine, B., et al. (1998). Overweight prevalence in persons with Down syndrome. Mental Retardation, 36 (3), 175-81. O. Genetics and Prenatal Screening

*Bahado-Singh, R., Oz, U., Kovanci, E., et al. (1999). A high-sensitivity alternative to ÒroutineÓ genetic amniocentesis; Multiple urinary analytes, nuchal thickness, and age. American Journal of Obstetrics and Gynecology, 180 (1), 169-173.

*Bianchi, D. W. (1999). Fetal cells in the maternal circulation: Feasibility for prenatal diagnosis. British Journal of Hematology, 105 (2), 574-83.

Cheng, et al. (1993). A prospective evaluation of a second-trimester screening test for fetal Down syndrome using maternal serum alpha-fetoprotein, hCG, and unconjugated estriol. Obstetrics and Gynecology, 81 (1), 72-77.

*Copel, J., & Bahado-Singh, R. O. (1999). Prenatal screening for DownÕs syndrome A search for the familyÕs values. (Editorial) New England Journal of Medicine, 341 (7), 521-522. Haddow, et al. (1992). Prenatal screening for DownÕs syndrome with use of maternal serum markers. New England Journal of Medicine, 327 (9), 588-593.

*Helm, D. T., Miranda, S., & Chedd, N. A. (1998). Prenatal diagnosis of Down syndrome: MothersÕ reflections on supports needed from diagnosis to birth. Mental Retardation, 36 (1), 55-61.

Epstein, C. (Ed.). (1992). The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions. Proceedings of a National Down Syndrome Conference. New York:Wiley-Liss.

Korenberg, J. R., Chen, X. N., Schipper, R., et al. (1994). Down syndrome phenotypes: The consequences of chromosomal imbalance. Proceedings of the National Academy of Sciences of the USA, 44 (6), 1039-45.

Palomaki, et al. (1993). Maternal serum screening for fetal Down syndrome in the United States: A 1992 Survey. American Journal of Obstetrics and Gynecology, 169 (6), 1558-1562.

Patterson, D., & Epstein, C. (Eds.). (1989). Molecular Genetics of Chromosome 21 and Down Syndrome. Proceedings of the Sixth Annual National Down Syndrome Society Symposium. New York:Wiley-Liss.

Pueschel, S. (1991). Ethical considerations relating to prenatal diagnosis of fetuses with Down syndrome. Mental Retardation, 29 (4), 185-190.

Tseng, L. H., Chuang, S. M., Lee, T. Y., & Ko, T. M. (1994). Recurrent DownÕs syndrome due to maternal ovarian Trisomy 21 mosaicism. Archives of Gynecology & Obstetrics, 255 (4), 213-6.

*Wald, N. J., Watt, H. C., & Hackshaw, A. K (1999). Integrated screening for DownÕs syndrome based on tests performed during the first and second trimesters. New England Journal of Medicine, 341 (7), 461-467.

P. Growth

Cronk, C., Crocker, A. C., Pueschel, S. M., et al. (1988). Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics, 81,102-110.

Palmer, et al. (1992). Head circumference of children with Down syndrome (0-36 months). American Journal of Medical Genetics, 42, 61-67. *See also, Section Z ÒInternet Resources,Ó below, for URL for Growth Charts

Q. Gynecology

Bovicelli, L., Orsini, L. F., et al. (1982). Reproduction in Down syndrome. Obstetrics and Gynecology, 59, 135-165.

Edwards, J. P. (1990). Sexuality, marriage, and parenting for persons with Down syndrome. In: Pueschel, S. M. (Ed.). The Young Person with Down Syndrome, 187-204. Baltimore: Paul Brookes.

Edwards, J. P., & Elkins, T. E. (1988). Just Between Us. Ednick Communications: Portland, OR.

Elkins, T. E. (1987). Reproductive health concerns for the person with Down syndrome. Journal of Pediatric Neurosciences, 3 (1), 28-36.

Elkins, T. E., Gafford, S., & Muram, D. (1986). A model clinic approach for reproductive health concerns of the mentally handicapped. Obstetrics and Gynecology, 68 (2), 185.

Elkins, T. E., McNeeley, D. G., Punch, M., et al. (1990). Reproductive health concerns in Down syndrome. A report of eight cases. Journal of Reproductive Medicine, 35 (7), 745-50.

Elkins, T. E., McNeeley, D. G., Rosen, D., et al. (1988). A clinical observation of a program to accomplish pelvic exams in difficult-to-manage patients with mental retardation. Adolescent Pediatric Gynecology, 1, 195-8.

Evans, A. I., & McKinlay, I. A. (1988). Sexual maturation in girls with severe mental handicap. Child Care, Health and Development, 14, 59-69.

Goldstein, H., & Menarche, (1988). Menstruation, sexual relations and contraception of adolescent females with Down syndrome. European Journal of Obstetrics, Gynecology and Reproductive Biology, 27, 343-49.

Heaton. C. J. (1995). ÒProviding reproductive health services to persons with Down syndrome and other mental retardation,Ó Caring for Individuals with Down Syndrome and their Families. Report of the Third Ross Roundtable on Critical Issues in Family Medicine, Columbus, Ohio: Ross Products Division, Abbott Laboratories.

McNeeley, S. C., & Elkins, T. E. (1989). Gynecologic surgery and surgical morbidity in mentally handicapped women. Obstetrics and Gynecology, 74, 155.

Rosen, D. A., Rosen, K. R., Elkins, T. E., et al. (1991). Outpatient sedation: An essential addition to gynecologic care for persons with mental retardation. American Journal of Obstetrics and Gynecology, 164 (3), 825-8.

R. Hematology/Oncology

*Kivivuori, S. M., Rajantie, J., & Siimes, M. A. (1996). Peripheral blood cell counts in infants with DownÕs syndrome. Clinical Genetics, 49 (1), 15-19. Litz, Ce, Davies, S., Brunning, R. D., et al. (1995). Acute leukemia and the transient myeloproliferative disorder associated with Down syndrome: Morphologic, immunophenotypic and cytogenetic manifestations. Leukemia, 9 (9), 1432-9.

Ribeiro, et al. (1993). Acute megakaryoblastic leukemia in children and adolescents: A retrospective analysis of 24 cases. Leukemia-Lymphoma, 10 (4-5), 299-306.

Robinson, L. L., Nesbit, M. E., Sather, H. N., et al. (1988). Down syndrome and acute leukemia. A 10 year retrospective survey from childrenÕs cancer study group. Journal of Pediatrics, 81, 235-242.

*Roizen, N. J., & Amarose, A. P. (1993). Hematologic abnormalities of children with Down syndrome American Journal of Medical Genetics, 46 (5), 510-2.

*Satge, D., Sommelte, D., Geneix, A., et al. (1998). A tumor profile of Down syndrome. American Journal of Medical Genetics, 78 (3), 207-16. Watson, et al. (1993). Trisomy 21 in childhood acute lymphoblastic leukemia: A pediatric oncology group study (8602). Blood, 82 (10), 3098-3102.

Wong, K. Y., Jones, M. M., Srivastava, A. K., et al. (1988). Transient myeloproliferative disorder and acute nonlymphoblastic leukemia in Down syndrome. Journal of Pediatrics, 112, 18-22.

*Zipursky, A., Brown, E., Christensen, H., Sutherland, R., & Doyle, J. (1997). Leukemia and/or myeloproliferative syndrome in neonates with Down syndrome. Seminars in Perinatology, 21 (1), 97-101.

S. Immunology

Nespoli, et al. (1993). Immunological features of DownÕs syndrome: A review. Journal of Intellectual Disability Research, 37, 543-551.

Ugazio, et al. (1990). Immunological features of Down syndrome: A review. American Journal of Medical Genetics, 7 (supplement), 204-212.

T. Longevity, Mortality and Long-term outcome

Baird, P. A., & Sadovnik, A. D. (1987). Life expectancy in Down syndrome. Journal of Pediatrics, 110, 849-54.

Carr, J. (1994). Long-term-outcome for people with Down syndrome. [Review] Journal of Child Psychology & Psychiatry & Allied Disciplines, 34 (3), 425-39.

*Chicoine, B., & McGuire, D. (1997). Longevity of a woman with Down syndrome: A case study. Mental Retardation, 34 (6), 477-9.

Thase, M. E. (1982). Longevity and mortality in DownÕs syndrome. Journal of Mental Deficiency Research, 23, 177-192.

U. Neurology (See X. Psychiatry, Neurology, and Developmental Biology, below.)

V. Ophthalmology

Caputo, A. R., Wagner, R., Reynolds, R. D., et al. (1989). Down syndrome: Clinical review of ocular features. Clinical Pediatrics, 28, 355-8.

Catalano, R. A., & Simon, J. W. (1990). Optic disc elevation in DownÕs syndrome. American Journal of Ophthalmology, 110, 28-32.

Courage, M. L., Adams, R. J., Reyno, S., & Kwa, P. G. (1994). Visual acuity in infants and children with Down syndrome. Developmental Medicine and Child Neurology, 36 (7), 586-93.

*da Cunha, R. P., & Moreira, J. B. (1996). Ocular findings in DownÕs syndrome. American Journal of Ophthalmology, 122 (2), 236-44.

*Davis, J. (1996). Ocular manifestations in Down syndrome. Pennsylvania Medicine, 99 (Suppl), 67-70.

Perez-Carpinelli, J. de Fez, M.D., & Climent, V. (1994). Vision evaluation in people with DownÕs syndrome. Ophthalmic and Physiological Optics, 14 (2), 115-21.

Roizen, N. J., Mets, M. B., & Blondis, T. A. (1994). Ophthalmic disorders in children with Down syndrome. Developmental Medicine and Child Neurology, 36 (7), 594-600.

Shapiro, M. B., & France, T. D. (1985). The ocular features of Down syndrome. American Journal of Ophthalmology, 99, 659-63.

Wagner, R. S., Caputo, A. R., & Reynolds, R. D. (1990). Nystagmus in Down's syndrome. Ophthalmology, 97 (11), 1439-44.

*Woodhouse, J. M., Pakeman, V. H., Saunder, K. J., et al. (1996). Visual acuity and accommodation in infants and young children with DownÕs syndrome. Journal of Intellectual Disability Research, 40 (Pt 1), 49-55.

W. Orthopedics & Atlanto-Axial Instability

American Academy of Pediatrics Committee on Sports Medicine and Fitness. Atlantoaxial instability in Down syndrome: Subject review. (1995). Pediatrics, 96 (1 Part 1), 151-4.

*Cohen, W. I., (1998). Atlanto-axial instability. WhatÕs next? Archives of Pediatric and Adolescent Medicine, 152 (2), 119-122. Davidson, R. G. (1988). Atlantoaxial instability in individuals with Down syndrome: A fresh look at the evidence. Pediatrics, 81 (6), 857-65. Diamond, L. S., Lynne, D., & Sigman, B. (1981). Orthopedic disorders in patients with Down syndrome. Orthopedic Clinics of North America, 12, 57-71.

*Ferguson, R. L., Putney, M. E., & Allen, B. L. (1997). Comparison of neurologic deficits with atlanto-dens intervals in patients with Down syndrome. Journal of Spinal Disorders, 10 (3), 246-52.

*Greene, W. B. (1998). Closed treatment of hip dislocation in Down syndrome. Journal of Pediatric Orthopedics, 18 (5), 643-7. Mendez, A. A., Keret, D., & MacEwen, G. D. (1999). Treatment of patellofemoral instability in DownÕs syndrome. Clinical Orthopedics and Related Research, (234), 148-58.

Morton, R. E., Khan, M. A., Murray-Leslie, C., & Elliott, S. (1995). Atlantoaxial instability in DownÕs syndrome: A five-year follow-up study. Archives of Disease in Childhood, 72 (2), 115-8, discussion 118-9.

Msall, M. E., Reese, M. E., et al. (1990). Symptomatic atlantoaxial instability associated with medical and rehabilitative procedures in children with Down syndrome. Pediatrics, 85 (3 Pt 2), 447-9. National Down Syndrome Congress, (1991). Atlanto-axial instability in persons with Down syndrome: Guidelines for screening. Down Syndrome News. Park Ridge, IL, June, 61.

Parfenchuck, T. A., Betrand, S. L., Powers, M. J., Drvaric, D. M., Pueschel, S. M., & Roberts, J. M. (1994). Posterior occipitoatlantal hypermobility in Down syndrome: An analysis of 199 patients. Journal of Pediatric Orthopedics, 14 (3), 304-8.

Pueschel, S. M., & Scola, F. H. (1987). Atlanto-axial instability in individuals with Down syndrome; Epidemiologic, radiographic, and clinical studies. Pediatrics, 80, 555-560.

Pueschel, S. M., Scola, F. H., & Pezzullo, J. C. (1992). A longitudinal study of atlanto-dens relationships in asymptomatic individuals with Down syndrome. Pediatrics, 89 (6), 1194-1198.

Pueschel, S. M., et al. (1990). Skeletal anomalies of the upper cervical spine in children with Down syndrome. Journal of Pediatric Orthopedics, 10, 607-611.

*Pueschel, S. M. (1998). Should children with Down syndrome be screened for atlanto-axial instability? Archives of Pediatric and Adolescent Medicine, 152 (2), 123-125.

White, et al. (1993). Evaluation of the craniocervical junction in Down syndrome: Correlation of measurements obtained with radiography and MR Imaging. Radiology, 186, 377-382.

X. Psychiatry, Neurology, and Developmental Biology

Brugge, et al. (1994). Cognitive impairment in adults with Down syndrome. Neurology, 44, 232-238.

*Burt, D. B., Loveland. K. A., Primeaux-Hart, S., et al. (1998). Dementia in adults with Down syndrome: Diagnostic challenges. American Journal of Mental Retardation, 103 (2), 130-45.

*Capone, G. (1999). Down syndrome. Current Management in Child Neurology, 191-195.

*Chicoine, B., McGuire, D., & Rubin, S. (1998). Adults with Down syndrome: Specialty clinic perspectives. In Janicki, M. P., & Dalton, A. J. (Eds.). Dementia, Aging, and Intellectual Disabilities: A Handbook. New York: Brunner/Mazel.

*Cohen, W. I., & Patterson, B. J. (1998). Neurodevelopmental disorders in Down syndrome, in Hassold T, & Patterson D., Down Syndrome: A Promising Future, Together. New York: Wiley-Liss.

Cooper, et al. (1993). Mania and Down syndrome. British Journal of Psychiatry, 162, 739-743.

Cooper, S. A., & Collacott, R. A. (1994). Clinical features and diagnostic criteria of depression in DownÕs syndrome. British Journal of Psychiatry, 194, 165 (3), 399-403.

Craddock, N., & Owen, M. (1994). Is there an inverse relationship between DownÕs syndrome and bipolar affective disorder? Literature review and genetic implications. Journal of Intellectual Disability Research, 38(Pt 6), 613-20.

Cuskelly, et al. (1992). Behavioral problems in children with DownÕs syndrome and their siblings. Journal of Child Psychology and Psychiatry, 33 (4), 749-761.

Dalton, A. J., & Crapper-McLachlan, D. R. (1986). Clinical expression of AlzheimerÕs disease in Down syndrome. Psychiatric clinics of North America, 9, 659-70.

*Devenny, D. A., Silverman, W. P., Hill, A. L., et al. (1996). Normal aging in adults with DownÕs syndrome: A longitudinal study. Journal of Intellectural Disability Research, 40 (3), 208-221.

Evenhuis, H. M. (1990). The natural history of dementia in Down syndrome. Archives of Neurology, 47, 263-7.

Franceschi, M., Comola, M., Piattoni, F., Gualandri, W., & Canal, N. (1990). Prevalence of dementia in adult patients with Trisomy 21. American Journal of Medical Genetics - Supplement, 7, 306-8.

*Gedye, A. (1998). Behavioral Diagnostic Guide for Developmental Disabilities. Vancouver: Diagnostic Books.

*Gedye, A. (1998). Neuroleptic induced dementia documented in four adults with mental retardation. Mental Retardation, 36 (3), 182-6. Ghaziuddin, et al. (1992). Autism in DownÕs syndrome: Presentation and diagnosis. Journal of Intellectual Disability Research, 36, 449-456.

Haveman, M. J., Maaskant, M. A, et al. (1994). Mental health problems in elderly people with and without DownÕs syndrome. Journal of Intellectual Disability Research, 38 (Pt 3), 341-55.

Howlin, P., Wing, L., & Gould, J. (1995). Recognition of autism in children with Down syndrome - implications for intervention and some speculations about pathology. Developmental Medicine and Child Neurology, 37 (5), 406-14.

Kesslak, J. P., Nagat, S. F., Lott, I., & Nalcioglu, O. (1994). Magnetic resonance imaging analysis of age-related changes in the brains of individuals with DownÕs syndrome. Neurology, 14 (3), 304-8.

*Kishnani, P. S. et al. (1999). Cholinergic therapy for DownÕs syndrome. Lancet, 353, 1064.

Lai, F., & Williams, R. S. (1989). A prospective study of Alzheimer disease in Down syndrome. Archives of Neurology, 46 (8), 849-53. Lund, J., & Munk-Jorgenson, P. (1988). Psychiatric aspects of Down syndrome. Acta Psychiatrica Scandinavica, 78, 369-74.

*McGuire, D., Chicoine, B., & Greenbaum, B. (1997). ÒSelf-talkÓ in adults with Down syndrome. Disability Solutions, 2 (2), 1-5.

Myers, B. A., Pueschel, S. M., (1991). Psychiatric Disorders in Persons with Down Syndrome. Journal of Nervous and Mental Disease, 179 (10), 609-13.

Nadel, L., Epstein, C., (Eds.). (1992). Down Syndrome and Alzheimer Disease. New York: Wiley-Liss.

Nelson, L., Lott, I., Touchette, P., Satz, P., & DÕElia, L. (1995). Detection of Alzheimer disease in individuals with Down syndrome. American Journal of Mental Retardation, 99 (6), 616-22.

*Oliver, C., Crayton, L., Holland, A., Hall, S., & Bradbury, J. (1998). A four year prospective study of age-related cognitive change in adults with DownÕs syndrome. Psychological Medicine, 28 (6), 1365-1377.

*Pary, R. J., Strauss, D., & White, J. F. (1996). A population survey of bipolar disorder in persons with and without Down syndrome. Down Syndrome Quarterly, 1 (3), 1-4.

*Pary, R. J., Friedlander, R., & Capone, G. (1999). Bipolar disorder and Down syndrome: Six cases. Mental Health Aspects of Developmental Disabilities, 2 (2), 59-63.

*Prasher, V. P., Chung, M. C., & Haque, M. S. (1998). Longitudinal changes in adaptive behavior in adults with Down syndrome: Interim findings from a longitudinal study. American Journal of Mental Retardation, 103 (1), 40-46.

Pueschel, S. M., Louis, S., & McKnight, P. (1991). Seizure disorders in Down syndrome. Archives of Neurology, 48 (3), 318-20.

Strafstrom, C. E., Patxot, O. F., et al. (1991). Seizures in children with Down syndrome; Etiology, characteristics, and outcome. Developmental Medicine and Child Neurology, 33, 191-200.

Stafstrom, et al. (1993). Epilepsy in Down syndrome: Clinical aspects and possible mechanisms. American Journal of Mental Retardation, supplement, 12-26.

Stafstrom, C. E., & Konkol, R. J. (1994). Infantile spasms in children with Down syndrome. Developmental Medicine and Child Neurology, 36 (7), 576-85.

Wisniewski, K. E., Miezejeski, C. M., & Hill, A. L. (1988). Neurological and psychological status of individuals with Down syndrome. In: Nadel L. (Ed.). Psychobiology of Down Syndrome, 315-43. Cambridge: MIT Press.

*Van Dyke, D. C., Harper, D. C., & Dyken, M. E. (1998). AlzheimerÕs disease and Down syndrome. Down Syndrome Quarterly, 3 (2), 1-11.

*Zigman, W. B., Schupf, N., Sersen, E., & Silverman, W. (1995). Prevalence of dementia in adults with and without Down syndrome. American Journal of Mental Retardation, 100 (4), 403-412.

*Y. Alternative Therapies

*Holmes, L. (1999). Concern about piracetam treatment for children with Down syndrome. (Letter), Pediatrics, 103 (5), 1078-1079.

*Kemper, K. J., Cassileth, B., & Ferris, T., (1999). Holistic pediatricstc \l 2 ÒY. Alternative TherapiesÓ: A research agenda. Pediatrics, 103 (4 Pt 2), 902-9.

*Klaiman, P., Witzel, M. A., Margar-Bacal, F., & Munro, I. (1988). Changes in aesthetic appearance and intelligibility of speech after partial glossectomy in patients with Down syndrome. Plastic and Reconstructive Surgery, 82 (3), 403-408.

*Lobaugh, N. J., et al. (1999). Piracetam does not enhance cognitive abilities in moderate to high-functioning 7 to 13 year-old children with Down syndrome. Presented at the PAS/SPR meeting in San Francisco CA, May 3, 1999. Abstract reprinted by L. Leshin, M.D., and is available on the ÒDown Syndrome: Health IssuesÓ web site at the following URL: www.ds-health.com/piract.html.

*Lynch, J., (1990). Tongue reduction surgery: Efficacy and relevance to the profession. ASHA, (January), 59-61.

*Margar-Bacal, F., Witzel, M. A., & Munro, I. (1987). Speech intelligibility after partial glossectomy in children with DownÕs syndrome. Plastic and reconstructive surgery, 79 (1), 44-49.

*Parsons, C. L., Iacono, T. & Rozner, L. (1987). Effect of tongue reduction on articulation in children with Down syndrome. American Journal of Mental Deficiency. 91 (4), 328-332

* Z. Internet Resources

1. National Organizations

National Down Syndrome Society: http://www.ndss.org

National Association for Down Syndrome: http://www.nads.org

National Down Syndrome Congress: http://www.members.carol.net/~ndsc/

2. Journals

Down Syndrome Quarterly, http://www.denison.edu/dsq

Down Syndrome Research and Practice, http://www.downsnet.org/dsrp/issues_contents.asp

Disability Solutions. http://www.disabilitysolutions.org

3. General Information

1999 Health Care Guidelines. http://www.denison.edu/dsq

Down Syndrome: Health Issues. http://www.ds-health.com/
This is a comprehensive list of health information about DS, including lists of DS Clinics in the US and abroad. You will find a listing of Current Ongoing Research in Down syndrome from the US Public Health Service database. This award-winning site, authored by Dr Len Leshin, has articles on common health concerns, such as constipation and gastroesophageal reflux, as well as monthly abstracts from the scientific literature.

Reprinted with permission from Down Syndrome Quarterly, Volume 4, Number 3, September, 1999

Healthwatch for Persons with Down Syndrome

Introduction
Neonatal - Birth to Two Months
Infancy - Two Months to Twelve Months
Childhood - One Year to Twelve Years
Adolescence - Twelve Years to Eighteen Years
Adults - Over Eighteen Years

Elaboration of Recommendations
Alternative and Controversial Therapies
Bibliography

Reprint Information