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Selected References Return to Article
[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 Rimoin's 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 Down's syndrome. Journal of Intellectual Disability Research, 42 (Pt 5), 341-345.
C. Other Checklists and Protocols
American Academy of Pediatrics Committee on Genetics, "Health guidelines for children with Down syndrome" (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.
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 Down's 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 Down's syndrome and non-Down's syndrome patients following paediatric cardiac surgery. Paediatric Anaesthesia, 8 (3), 229-233.
Kobel, M., Creighton, R. E., & Steward, D. J. (1982). Anaesthetic considerations in Down's 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). Down's 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 Down's 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 Down's 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 Down's 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 Down's 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 Down's 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 Down's 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 Down's syndrome population. Journal of Periodontology, 57 (5), 288-93.
Giannoni, M., Mazza, A. M., Botta, R., & Marci, T. (1989). Dental problems in Down's syndrome. Overview and specific pathology. Dental Cadmos, 57 (12), 70-80.
Modeer, T., Barr, M., & Dahllof, G. (1990). Periodontal disease in children with Down's 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 Down?s 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 Down's 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 Down's 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 Down's 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 Disabilities. 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). Down's 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 "Special Education." 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 Down's 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 Down's syndrome: Prevalence management and diabetic complications. 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 Down's 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 Down's syndrome: Prospective study results and therapeutic considerations. Journal of Endocrinological 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 andrological 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 Down's 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 parent's 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 "routine" 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 Down?s syndrome A search for the family?s values. (Editorial) New England Journal of Medicine, 341 (7), 521-522.
Haddow, et al. (1992). Prenatal screening for Down's 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: Mothers' 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 Down's 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 Down's 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 "Internet Resources," 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). "Providing reproductive health services to persons with Down syndrome and other mental retardation," 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 Down's 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 children's 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 Down's 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 Down's 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 Down's 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 Down's 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 Down's 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 Down's 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). Atlantoaxial instability. What's 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 atlantodens 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 Down's syndrome. Clinical Orthopedics and Related Research, (234), 148-58.
Morton, R. E., Khan, M. A., Murray-Leslie, C., & Elliott, S. (1995). Atlantoaxial instability in Down's 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). Atlantoaxial 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). Atlantoaxial 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 Down's syndrome. British Journal of Psychiatry, 194, 165 (3), 399-403.
Craddock, N., & Owen, M. (1994). Is there an inverse relationship between Down's 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 Down's 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 Alzheimer's 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 Down's 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 Down's 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 Down's 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 Down's syndrome. Neurology, 14 (3), 304-8.
*Kishnani, P. S. et al. (1999). Cholinergic therapy for Down's 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). "Self-talk" 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., & D'Elia, 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 Down's 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). Alzheimer?s 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 "Alternative Therapies": 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 "Down Syndrome: Health Issues" 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 Down's 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: www.ndss.org
National Association for Down Syndrome: www.nads.org
National Down Syndrome Congress: www.ndsccenter.org
2. Journals
Down Syndrome Quarterly
Down Syndrome Research and Practice, information.downsed.org/library/periodicals/dsrp/
Disability Solutions. www.disabilitysolutions.org
3. General Information
Down Syndrome: Health Issues. www.ds-health.com/
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