Ear Center: Down Syndrome References

Down Syndrome References


  1. Lott IT, McCoy EE, editors: Down Syndrome: Advances in Medical Care. New York, 1992, Wiley-Liss/John Wiley & Sons, Inc.Publication.
  2. Pueschel SM, Pueschel JK, editors: Biomedical Concerns in Persons with Down Syndrome. Baltimore, 1992, Paul H. Brookes Publishing Co.
  3. Rogers PT, Coleman M. Medical Care in Down Syndrome. New York, 1992, Marcel Dekker.
  4. Cicchetti D., Beeghly M., editors: Children with Down Syndrome. 1990, Cambridge University Press.
  5. Rubin L, Crocker AC. Developmental Disabilities - Delivery of Medical Care for Children and Adults. 1989, Lea & Febriger.
  6. Tingey C. editor: Down Syndrome - A Resource Handbook, 1988,College-Hill Press.
  7. Nadel, L. editor: Psychobiology of Down Syndrome. 1988, MITPress.
  8. Pueschel SM, et.al., editors: New Perspectives on Down Syndrome.1986, Paul H. Brookes Publishing Co.
  9. Sternberg MLA, editor: American Sign Language: A Comprehensive Dictionary, New York, 1981, Harper & Row.
  10. Kumin, L. Communication Skills in Children with Down Syndrome: AGuide for Parents. Woodbine House, 5615 Fishers Lane, Rockville, MD., 20852, (800) 843-7323, 1994.
  11. Oelwein, P. Teaching Reading to Children with Down Syndrome: A guide for Parents and Teachers. Woodbine House, 5615 Fishers Lane, Rockville, MD., 20852, (800) 843-7323, 1994.
  12. Van Dyke, DC et.al. Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents. Woodbine House, 5615 Fishers Lane,Rockville, MD., 20852, (800) 843-7323, 1994.
  13. Cunningham C. Understanding Down Syndrome. Cambridge, Mass. 1996.
  14. Pueschel SM. A Parent's Guide to Down Syndrome. Paul H. Brookes,Baltimore, 1990.
  15. Brill MT. Keys to Parenting a Child with Down Syndrome. Barrons, 1993.
  16. Stray-Gundersen K. Babies with Down Syndrome: A New Parents' Guide. Woodbine House, 1995.
  17. Pueschel SM, Sustrova M. Adolescents with Down Syndrome. Paul H. Brookes:Baltimore, 1997.
  18. Pueschel SM. A Parent's Guide to Down Syndrome. Paul H. Brookes, Baltimore, 1997.

Review Articles

  1. Cooley WC, Graham JM. Common Syndromes and Management Issues for Primary Care Physicians. Down Syndrome - An Update and Review for the Primary Pediatrician. Clin Pediatrics, 30(4), 233-253, 1991. (Excellent review with 84 references)
  2. Down Syndrome Preventive Medical Check List. Down Syndrome Papers and Abstracts for Professionals, Baltimore, July 1992, Down Syndrome Center, Department of Pediatrics, University of Maryland School of Medicine, 630 W. Fayette Street, Baltimore, MD 21201. Subscription requests to: 200 Rabbitt Road, Gaithersburg, MD 20878.
  3. Haslam RHA, Milner R. The Physician and Down Syndrome: Are Attitudes Changing? J Child Neurol, 7: 304-310, 1992.
  4. Van Dyke DC. Medical Problems in Infants and Young Children with Down Syndrome: Implications for Early Services. Inf Young Children, 1(3), 39-50, 1989.
  5. Cooley WC. Preventive Health Care for the Child with Down Syndrome. Down Syndrome News, vol. 17(9), 114-125, 1994.
  6. Health Supervision for Children with Down Syndrome. Committee on Genetics. Pediatrics. 93(5), 855-59, 1994.
  7. Down Syndrome Prevalence at Birth - United States, 1983-1990. Morbidity and Mortality Weekly Report. 43(33), 617-22, Aug. 26, 1994.
  8. AAP Issues Guidelines on Health Supervision for Children with Down Syndrome. Special Medical Report. American Fam Physician. 50(3), 695-7, Sep. 1994.
  9. Pueschel SM, et.al. Guidelines for optimal medical care of persons with Down Syndrome. International League of Societies for Persons with Mental Handicap (ILSMH). Acta Paediatr, 84(7):823-827, 1995.
  10. Down Syndrome Quarterly. Ed. Thios SJ. The Nisonger Center, The Ohio State University, & Denison University. A quarterly journal with first publication March 1996. (Currently unavailable)
  11. Cohen WI. Health Care Guidelines for Individuals with Down Syndrome(Down Syndrome Preventive Medical Check List). Down Synd Quarterly,1(2), 1-10, June, 1996.
  12. Kraus EM. Down Syndrome and Care of the Syndromic Patient. In Hotaling AJ, Stankiewicz JA, Pediatric Otolaryngology for the General Otolaryngologist. New York:Igaku-Shoin, 196-221, 1996.
  13. Trueta M, Seres-Santamaria A, eds. International Conference on Chromosome 21 and Medical Research on Down Syndrome, March 14-15-1997, Barcelona, Spain, in Cytogenetics and Cell Genetics, Karger AG, Basel,Vol 77, Suppl. 1, 1-36, 1997.
  14. Saenz RB: Primary care of infants and young children with Down Syndrome. Am Fam Physician, 59(2), 381-390, 392, 395-396, 1999.(39 references)
  15. Toledo C, et.al.: Growth curves in children with Down syndrome. Ann Genet, 42(2),81-90, 1999.
  16. Grech V. An overview and update regarding medical problems in Down Syndrome. Indian J Pediatr. 2001 Sep;68(9):863-6. Review.
  17. Capone GT. Down syndrome: advances in molecular biology and the neurosciences. J Dev Behav Pediatr. 2001 Feb;22(1):40-59. Review.
  18. Davisson MT, Gardiner K, Costa AC. Report and abstracts of the ninth international workshop on the molecular biology of human chromosome 21 and Down syndrome. Bar Harbor, Maine, USA. 23-26 September 2000. Cytogenet Cell Genet. 2001;92(1-2):1-22.
  19. Nation J, Brigger M. The efficacy of adenotonsillectomy for obstructive sleep apnea in children with Down Syndrome: A systematic review. J Otolaryngol Head Neck Surg. Sep 2017, 157(3):401-408.

Journal Articles By Topic

Atlantoaxial Instability

  1. Pueschel SM, et.al. Computerized Tomography in Persons with Down Syndrome and Atlantoaxial Instability. Spine, 17(7): 735-737, 1992.
  2. Pueschel SM, et.al. A Longitudinal Study of Atlanto-Dens Relationships in Asymptomatic Individuals with Down Syndrome. Pediatrics, 89: 1194-1198, 1992.
  3. Martich V, et.al. Hypoplastic Posterior Arch of C-1 in Children with Down Syndrome: A Double Jeopardy. Radiology, 183(1): 125- 128, 1992.
  4. Segal LS, et.al. Complications of Posterior Arthrodesis of the Cervical Spine in Patients Who Have Down Syndrome. J Bone Joint Surg, 73-A(10): 1547-1554, 1991.
  5. White KS, et.al. Evaluation of the Craniocervical Junction in Down Syndrome: Correlation of Measurements Obtained with Radiography and MR Imaging. Ped Radiology, 186(2): 377-82, 1993.
  6. Menezes AH, Ryken TC. Craniovertebral Abnormalities in Down's Syndrome. Pediatr Neurosurg. 18: 24-33, 1992.
  7. Cremers MJG, et.al. Radiological Assessment of the Atlantoaxial Distance in Down's Syndrome. Arch Dis Child, 69: 347-350, 1993.
  8. Litman RS, Perkins FM. Atlantoaxial Subluxation After Tympanomastoidectomy in a Child with Trisomy 21. Otolaryngol-HNS, 110:6, 584-86, 1994.
  9. Parfenchuck TA. Posterior occipitoatlantal hypermobility in Down Syndrome: an analysis of 199 patients. J. Pediatr Orthop., 14(3), 304-8, 1994.
  10. Harley EH, Collins MD: Neurologic sequelae secondary to atlantoaxial instability in Down Syndrome. Arch Oto 120, 159-165, 1994.
  11. Trumble ER, et.al.: Atlantooccipital subluxation n a neonate with Down's Syndrome. Case report and review of the literature. Pediatr Neurosurg 21(1), 55-58, 1994.
  12. Morton RE, et.al.: Atlantoaxial instability in Down's Syndrome: a five year follow-up study. Arch Dis Child 72(2), 115-118, discussion 118- 119, 1995.
  13. Samuel D, et.al.: Atlanto-axial subluxation (Grisel's syndrome)following otolaryngological diseases and procedures. J Laryngol Otol, 109, 1005-1009, 1995.
  14. Atlantoaxial instability in Down Syndrome Subject Review. American Academy of Pediatrics Committee on Sports Medicine and Fitness. Pediatrics, Jul:96(1 pt. 1);151-4, 1995.
  15. Matsuda Y, Sano N, Watanabe S, et.al. Atlanto-occipital hypermobility in subjects with Down's Syndrome. Spine, 20(21), 2283-2286, 1995.
  16. Higo M, et.al. Occipitocervical fusion by Luque loop rod instrumentation in Down Syndrome. J Pediatr Orthop, 15(4):539-542, 1995.
  17. Rizzolo S, et.al. Posterior spinal arthrodesis for atlantoaxialinstability in Down Syndrome, J Pediatr Orthop, 15(4):543-548.
  18. Abramson PJ, et.al.: Neck flexion and extension in children with Down Syndrome: a somatosensory study. Laryngoscope, 105(11):1209-1212, 1995.
  19. Doyle JS, Lauerman WC, Wood KB, et.al.: Complications and Long-Term Outcome of Upper Cervical Spine Arthrodesis in Patients with Down Syndrome. Spine, 21(10), 1223-1231, 1996.
  20. Uno K, Kataoka O, Shiba R: Occipitoatlantal and Occipitoaxial Hypermobility in Down Syndrome. Spine, 21(12), 1430-1434, 1996.
  21. Nucci P, de Pellegrin M, Brancato R: Atlantoaxial Dislocation Related to Instilling Eyedrops in a Patient with Down's Syndrome. Am J Ophthalmol, 122(6), 908-910, 1996.
  22. O'Connor JF: Commentary-Atlantoaxial Instability in Down Syndrome Reassessment by the Committee on Sports Medicine and Fitness of the American Academy of Pediatrics. Pediatr Radiol, 26(10), 748-749, 1996.
  23. Karol LA, Sheffield EG, Crawford K, et.al.: Reproducibility in the Measurement of Atlanto-occipital Instability in Children with Down Syndrome. Spine, 21(21), 2463-2468, 1996.
  24. Ferguson RL, Putney ME, Allen BL: Comparison of Neurologic Deficits With Atlanto-Dens Intervals in Patients with Down Syndrome. J Spinal Disorders, 10(3), 246-252, 1997.
  25. Holcomb JD, Jaffe DM, Greenwald JH, Bauman NM, Smith RJH: Non-traumatic Atlantoaxial rotary subluxation in the pediatric otolaryngology patient. Annal ORL, 110(12),1137-1140, 2001.


  1. Korenberg JR, et.al. Down Syndrome: Molecular Mapping of the Congenital Heart Disease and Duodenal Stenosis. Am J Hum Genet,50:294-302, 1992.
  2. Daumer-Haas C, et.al.: Tetrasomy 21 pter--->q22.1 and Down Snydrome: molecular detection of the region. Am J Med Genetics 53(4), 359-365, 1994.
  3. Gosset P, et.al.: A High-Resolution Map of 1.6 Mb in Down Syndrome Region: a new map between D21555 and ETS2. Mamm. Genome, Feb:6(2):127-130, 1995.
  4. Patterson D. The integrated map of human chromosome 21. Prog Clin Biol Research, 393:43-55, 1995.
  5. Heggarty HJ, Ball R, Smith M, Henderson MJ: Amino Acid Profile in Down's Syndrome. Arch Dis Child, 74(4), 347-349, 1996.
  6. Avramopoulos D, Kennerknecht I, Barbi G, et.al.: A Case of Apparent Trisomy 21 without the Down's Syndrome Phenotype. J Med Genet, 34, 597-600, 1997.


  1. Pueschel SM, et.al. Thyroid Function in Down Syndrome. Research Devel Disabil, 12: 287-296, 1991.
  2. Anneren G, et.al. Abnormal Serum IgG Subclass Pattern in Children with Down's Syndrome. Arch Dis Child, 67(5): 628-631, 1992.
  3. Kohen D, Wise PH. Autoantibodies in Down's Syndrome. Lancet, 340(8816):430, 1992.
  4. Selikowitz M. A five-year longitudinal study of thyroid function in children with Down Syndrome. Devel Med Child Neurol.35, 396-401, 1993.
  5. Castro M, et.al. Down's Syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in Trisomy 21. J Pediatr Gastroenterol Nutr. 16(3), 265-268, 1993.
  6. Norton SA. Down Syndrome, alopecia universalis, and trachyonychia. Ped Dermatol, 10(2), 187-8, 1993.
  7. Selikowitz M. A Five-Year Longitudinal Study of Thyroid Function in Children with Down Syndrome. Develop Med Child Neurol. 35:396-401, 1993.
  8. Rubello D, et.al.: Natural Course of Subclinical Hypothyroidism in Down Syndrome: prospective study results and therapeutic considerations. J. Endocrinol Invest. Jan:18(1):35-40, 1995.
  9. Schepis C, Barone C, Siragusa M, et.al.: Prevalence of Atopic Dermatitis in Patients with Down Syndrome: A Clinical Survey. J Am Acad Dermatol, 36(6 part 1), 1019-1021, 1997.
  10. Carlsson A, Axelsson I, Borulf S, et.al.: Prevalence of IgA-Antibodies And IgA-Antiendomysium Antibodies Related to Celiac Disease in Children with Down Syndrome. Pediatrics, 101(2), 272-275, 1998.
  11. Bonamico M, Rasore-Quartino A, Mariani P, et.al.: Down Syndrome and Coeliac Disease: Usefulness of Antigliadin and Antiendomysium Antibodies. Acta Paediatr, 85, 1503-1505, 1996.
  12. Gale L, Wimalaratna H, Brotodiharjo A, et.al.: Down's Syndrome is Strongly Associated with Coeliac Disease. Gut, 40, 492-496, 1997.
  13. Jaruratanasirikul S, et.al. The association of congenital hypothyroidism and congenital gastointestinal anomalies in Down's syndrome Infants. J Pediatr Endocrinol Metab, 11(2), 241-246, 1998.
  14. Karlsson B, et.al.: Thyroid dysfunction in Down's syndrome: relation to Age and thyroid autoimmunity. Arch Dis child, 79(3), 242-245, 1998.
  15. Ali FE, et.al.: Treatment of hyperthyroidism in Down syndrome: case report and review of the literature. Res Dev Disabil, 20(4),297-303, 1999.
  16. Carnicer J, Farre C, Varea V, Vilar P, Moreno J, Artigas J.Prevalence of coeliac disease in Down's syndrome. Eur J Gastroenterol Hepatol. 2001 Mar;13(3):263-7.
  17. Book L, Hart A, Black J, Feolo M, Zone JJ, Neuhausen SL.Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study. Am J Med Genet. 2001 Jan 1;98(1):70-4.
  18. Walker-Smith JA. Celiac disease and Down syndrome. J Pediatr. 2000 Dec;137(6):743-4.
  19. Zachor DA, Mroczek-Musulman E, Brown P.Prevalence of celiac disease in Down syndrome in the United States. Pediatr Gastroenterol Nutr. 2000, Sep;31(3):275-

Facial Cosmetic Surgery

  1. Kravetz S, et.al. Plastic Surgery on Children With Down Syndrome: Parents' Perceptions of Physical, Personal, and Social Functioning. Research Develop Disabil, 13: 145-156, 1992.
  2. Lewandowicz E, et.al.: The indications and plan for plastic operations in Down's Syndrome. Acta Chir Plast, 37(2):40-44, 1995.
  3. Jones RB. Parental consent to cosmetic facial surgery in Down's syndrome.J Med Ethics. 2000 Apr;26(2):101-2.

Otolaryngology - Head & Neck Surgery

  1. Kraus EM. Down Syndrome and the Otolaryngologist: Clinical Characteristics and Recommendations for Management. in Instruction Courses 1991, AAO-HNS, ed. Johnson J, et.al., St. Louis:Mosby Year Book, Inc., Vol. 5, 1992, 3-16. (90 References)
  2. Kakigi R, Kuroda Y. Brain-stem Auditory Evoked Potentials in Adults with Down Syndrome. Electroencephal & Clin Neurophysiol, 84:293- 295, 1992.
  3. Evenhuis HM, et.al. Hearing Loss in Middle-Age Persons with Down Syndrome. Am J Ment Retard, 97(1): 47-56, 1992.
  4. Myers CM. Clinical Note on Subglottic Stenosis in Children with Down Syndrome. Clin Peds, 30(11):646, 1991.
  5. Glass RB, et.al. Mastoid Abnormalities in Down Syndrome. Ped Radiol, 19(5): 311-2, 1989.
  6. Marcell MM, Cohen S. Hearing Abilities of Down Syndrome and Other Mentally Handicapped Adolescents. Res Devel Disabil, 13: 533-51, 1992.
  7. Strome SE, Strome M. Down Syndrome: An Otolaryngologic Perspective. J Otolaryngol. 21(6): 394-97, 1992.
  8. Wells TR, et.al. Association of Down Syndrome and Segmental Tracheal Stenosis with Ring Tracheal Cartilages: A Review of Nine Cases. Ped Path, 12: 673-82, 1992.
  9. Seilkowitz M. Short-term efficacy of tympanostomy tubes for secretory otitis media in children with Down Syndrome. Dev Med Child Neurol, 35: 511-515, 1993.
  10. Roizen NJ, et.al. Hearing loss in children with Down Syndrome. J Pediatr, 123(1), S 9-12, 1993.
  11. Pappas DG, et.al. Otological and Habilitative Management of Children with Down Syndrome. Laryngoscope, 104(9), 1065-1070, 1994.
  12. Roizen NJ, et.al.: Sclerosis of the mastoid air cells as an indicator of undiagnosed otitis media in children with Down's Syndrome. Clin Pediatr (Phila),33(7), 439-443, 1994.
  13. Gill P, et.al.: Fetal ear measurements in the penatal detection of trisomy 21. Prenat Diagn, 14(8), 739-743, 1994.
  14. Roizen NJ, Wolters C, Nicol T, Blondis T. Hearing Loss in Children with Down Syndrome. Pediatrics, 123, 9-12, 1992.
  15. Aboussouan et.al. Hypoplastic trachea in Down's Syndrome. American Review of Respiratory Therapy,147, 72-75, 1993.
  16. Marcus CL, Keens TG, et.al.: Obstructive Sleep Apnea in Children with Down Syndrome. Pediatrics, 88(1), 132-139, 1991.
  17. Southall DP, Stebbins VA, et.al. Upper Airway Obstruction with Hypoxaemia and Sleep Disruption in Down Syndrome. Develop Med Clin Neurol, 29, 734-742, 1987.
  18. Stebbins VA, Dennis J, et.al. Sleep Related Upper Airway Obstruction in a Cohort with Down's Syndrome. Arch Disorders Childhood, 66(11), 1333-1338, 1991.
  19. Diefendorf AO, et.al.: Down Syndrome: a multidisciplinary perspective. Am Acad Audiol, 6(1), 39-46, 1995.
  20. Mazzoni DS, et.al.: Abnormal pinna type and hearing loss correlations in Down Syndrome. J Intellect Disabil Res, 38 (part 6), 549-560, 1994.
  21. Bower CM, Richmond D. Tonsillectomy and adenoidectomy in patients with Down Syndrome. Internat J Pediatr Oto, 33(2) 141-148, 1995.
  22. Diaz F, Zuron M. Auditory evoked potentials in Down's Syndrome. Electroencephalography & Clin Neurophysiol, 96(6), 526-537, 1995.
  23. Ferri R, et.al.: Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's Syndrome. Ital J Neurol Sci, 16(6):377-383, 1995.
  24. Bilgin H, et.al.: Temporal Bone Study of Down's Syndrome. Arch Otolaryngol, 122. 271-275, 1996.
  25. Jacobs IN, Gray RF, Todd NW: Upper Airway Obstruction in Children with Down Syndrome. Arch Otolaryngol, 122,945-950, 1996.
  26. Gerber ME, Gaugler MD, Myer CM, Cotton RT: Chronic Aspiration in Children: When are bilateral submandibular gland excision and parotid ligation indicated? Arch Otolaryngol, 122, 1368-1371, 1996.
  27. Kaneko WM, et.al.: Auditory Event Related Potentials in Fetal Alcohol Syndrome and Down Syndrome Children. Alcohol Clin Exp Res, 20(1), 35-42, 1996.
  28. McKeown DA: Olfactory Function in Young Adolescents with Down's Syndrome. J Neurol Neurosurg Psychiatry, 61(4), 412-414, 1996.
  29. Murphy C: Olfactory Dysfunction in Down's Syndrome. Neurobiol Aging, 17(4), 631-637, 1996.
  30. Ferguson PJ, Saulsbury FT: Successful Treatment of Chronic Mycobacterium Abscessus Otitis Media with Clarithromycin. Ped Infect Dis J, 15(4), 384-385, 1996.
  31. Werner LA, et.al.: Preliminary Observations on the Development of Auditory Sensitivity in Infants with Down Syndrome. Ear Hear, 17(6), 455-468, 1996.
  32. Lefairve JF, Cohen SR, Burstein FD, et.al.: Down Syndrome: Identification and Surgical Management of Obstructive Sleep Apnea. Plast Reconstructive Surg, 99(3), 629-637, 1997.
  33. Chrobok V, et.al.: Temporal bone findings in trisomy 18 and 21 syndromes. Eur Arch Otorhinolaryngol, 254(1), 15-18, 1997.
  34. Goldstein NA, Armfield DR, Kingsley LA, et.al.: Postoperative Complications after Tonsillectomy and Adenoidectomy in Children With Down Syndrome. Arch Otol, 124(2), 171-176, 1998.
  35. Townsend A, Mohon RT: Congenital Tracheal Stenosis in a Patient with Down's Syndrome. Pediatric Pulmonology, 23, 460-463, 1997.
  36. Mason JA, Herrmann KR: Universal Infant Hearing Screening by Automated Auditory Brainstem Response Measurement. Pediatrics, 101(2), 221-228, 1998.
  37. Seidl R, Hauser E, Bernert G, et.al.: Auditory Evoked Potentials in Young Patients with Down Syndrome. Event-related Potentials (P3) and Histamingergic System. Cognitive Brain Research, 5, 301-309, 1997.
  38. Ferri R, et.al.: Heart rate variability and apnea during sleep in Down's syndrome. J Sleep Res, 7(4), 282-287, 1998.
  39. Levanon A, et.al.: Sleep characteristics in children with Down Syndrome. J Pediatr, 134(6), 755-760, 1999.
  40. Shott SR, Joseph A, Heithaus D.:Hearing loss in children with Down Syndrome. Int J Pediatr Otorhinolaryngol. 2001 Dec 1;61(3):199-205.
  41. Piatti G, Allegra L, Ambrosetti U, De Santi MM. Nasal ciliary function and ultrastructure in Down syndrome. Laryngoscope. 2001, Jul;111(7):1227-30.
  42. Uong EC, McDonough JM, Tayag-Kier CE, Zhao H, Haselgrove J, Mahboubi S,Schwab RJ, Pack AI, Arens R. Magnetic resonance imaging of the upper airway in children with Down Syndrome. Am J Respir Crit Care Med.,2001 Mar; 163(3 Pt 1):731-6.
  43. Boseley ME, Link DT, Shott SR, Fitton CM, Myer CM, Cotton RT. Laryngotracheoplasty for subglottic stenosis in Down Syndrome children: the Cincinnati experience. Int J Pediatr Otorhinolaryngol. 2001 Jan;57(1):11-5. Review.
  44. Kanamori G, Witter M, Brown J, Williams-Smith L. Otolaryngologic manifestations of Down syndrome. Otolaryngol Clin North Am. 2000, Dec;33(6):1285-92. Review.
  45. Kattan HA, Jarrar RF, Mahasin ZZ. A pilot study of the relationship between Down's syndrome and hearing loss. Saudi Med J. 2000, Oct;21(10):931-3.
  46. Todd NW, Holt PJ, Allen AT. Safety of neck rotation for ear surgery in children with Down syndrome. Laryngoscope. 2000 Sep;110(9):1442-5.
  47. Shapiro NL, Huang RY, Sangwan S, Willner A, Laks H. Tracheal stenosis and congenital heart disease in patients with Down syndrome: diagnostic approach and surgical options. Int J Pediatr Otorhinolaryngol. 2000 Aug 31;54(2-3):137-42.
  48. Shott SR. Down syndrome: Analysis of airway size and a guide for appropriate intubation. Laryngoscope. 2000 Apr;110(4):585-92.
  49. Weber TR, Fiore A. An association of congenital mid-tracheal stenosis with Down syndrome. Surgery. 2000 Mar;127(3):358-60.
  50. Shott SR, Donnelly LF: Cine magnetic resonance imaging: evaluation of persistent airway obstruction after tonsil and adenoidectomy in children with Down Syndrome. Laryngoscope, 2004 October; 114: 1724-1729.
  51. Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Inner ear dysplasia is common in children with Down Syndrome (trisomy 21). Laryngoscope, 2006, December, 116(12);2113-2119.
  52. Shott SR, Amin R, Chini B, Huebi C, Hotze S, Akers R: Obstructive sleep apnea: should all children with Down Syndrome be tested?. Arch Oto. April, 2006; 132: 432-435.
  53. Cheng J, Elden L. Outcomes in children under 12 months of age undergoing adenotonsillectomy for sleep-disordered breathing. Laryngoscope. 2013;123 (September):2281-2284.
  54. Prosser JD, Shott SR, Rodriguez O, et al. Polysomnographic outcomes following lingual tonsillectomy for persistent obstructive sleep apnea in Down Syndrome. Laryngoscope 2017;127:520-524.
  55. Baker AB, Farhood Z, Brandstetter KA, Teufel R, LaRosa A, White DR. Tonsillectomy in children with Down Syndrome: A national cohort of inpatients. J Otolarygol Head Neck Surg 2917;157(3):499-503.

Prenatal Diagnosis

  1. Haddow JE, et.al. Prenatal Screening for Down's Syndrome with Use of Maternal Serum Markers. NEJM, 327(9): 588-593, 1992.
  2. Platt LD, Carlson DE. Prenatal Diagnosis - When and How?. NEJM,327(9): 636-638, 1992.
  3. Phillips OP, et.al. Maternal Serum Screening for Fetal Down Syndrome in Women Less Than 35 Years of Age Using Alpha- Fetoprotein, hCG, and Unconjugated Estriol: A Prospective 2-Year Study. Ob-Gyn, 80(3)part 1: 353-358, 1992.
  4. Cheng EY, et.al. A Prospective Evaluation of a Second Trimester Screening Test for Fetal Down Syndrome Using Maternal Serum Alpha-Fetoprotein, hCG, and Unconjugated Estriol. Ob-Gyn, 81(1): 72-77, 1993.
  5. Palomake GE, et.al. Cigarette smoking and levels of maternal serum alpha-fetoprotein, unconjugated estriol, and hCG: impact on Down Syndrome screening. Obst Gynecol. 81(5)part 1, 675-78, 1993.
  6. Burton BK, et.al. A prospective trial of prenatal screening for Down Syndrome by means of maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. Am J Obstetr Gynecol, 169(3), 526-30, 1993.
  7. Elkins, TE Brown D. The Cost of Choice: A Price Too High in the Triple Scren for Down Syndrome. Clin Obst Gynecol. 36(3), 532-540, 1993.
  8. Aitken DA, Wallace EM, Cossley JA, et.al.: Dimeric Inhibin A as a Marker for Down's Syndrome in Early Pregnancy. NEJM 334(19), 1231-1236, 1996.
  9. Benacerraf BR: The Second-Trimester Fetus with Down Syndrome:Detection Using Sonographic Features. Ultrasound Obstet Gynecol, 7(2), 147-155, 1996.
  10. Shipp TD, Bromley B, Lieberman E, et.al.: The Iliac angle as a Gynecol, sonographic marker for Down Syndrome in second-trimester fetuses. Obstet 89(3), 446-450, 1997.
  11. Taipale P, Hiilesmaa V, Salonen R, et.al: Increased Nuchal Translucency as a Marker for Fetal Chromosomal Defects. NEJM, 337(23), 1654-1658, 1997.
  12. Palomaki GE, Knight GJ, McCarthy JE, et.al.: Maternal Serum Screening for Down Syndrome in the United States: A 1995 Survey. Am J Obstet Gynecol, 176(5), 1046-1051, 1997.
  13. Haddow JE, Palomaski GE, Knight GJ, et.al.: Screening of Maternal Serum For Fetal Down's Syndrome in the First Trimester. NEJM, 338(14), 955-961, 1998.
  14. Wald NJ, Watt HC, Hackshaw AK: Integrated Screening for Down's Syndrome Based on Tests Performed During the First and Second Trimesters. NEJM,341(7), 461-467, 1999.
  15. Newberger DS. Down syndrome: prenatal risk assessment and diagnosis.Am Fam Physician. 2000 Aug 15;62(4):825-32, 837-8. Review.

Miscellaneous Topics

  1. Vicari S, Albertini G. Moyamoya Disease in Down's Syndrome: A Report of Two Cases. J Ment Defic Research, 35: 392-397, 1991.
  2. Pueschel SM. Reflex seizures in Down Syndrome. Child's Nerv Syst, 9: 23-24, 1993.
  3. Stafstrom CF. Epilepsy in Down Syndrome: clinical aspects and possible mechanisms. Am J Ment Retard, 98:suppl 12-26, 1993.
  4. Castro M, et.al. Down's Syndrome and Celiac Disease: The Prevalence of High IgA-Antigliadin Antibodies and HLA-DR and DQ Antigens in Trisomy 21. J Ped Gastroenterol Nutrition. 16: 265-68, 1993.
  5. Norton SA, Demidovich CW. Down Syndrome, Alopecia Universalis, and Trachyonychia. Ped Dermatol. 10(2): 187-188, 1993.
  6. Berube M. Life As We Know It. An Essay, Harper's Magazine, Dec. 1994, 41-51.
  7. Stafstrom CE. Infantile spasms in children with Down Syndrome. Dev. Med. Child Neurol., 36(7), 576-585, 1994.
  8. Roizen NJ. Ophthalmic disorders in children with Down Syndrome. Dev. Med. Child Neurol. 36(7), 594-600, 1994.
  9. Drabkin HA, et.al.: Down Syndrome and leukemia: an update. Prog Clin Biol Research, 393:169-176, 1995.
  10. Mitchell V, et.al.: Down's Syndrome and anaesthesia. Paediatr Anaesth, 5(6):379-384, 1995.
  11. da Cunha RP, et.al.: Ocular Findings inn Down's Syndrome. Am J Ophthalmol, 122(2), 236-244, 1996.
  12. Peretz B, et.al.: Modification of Tooth Size and Shape in Down's Syndrome. J Anat, 188(part 1), 167-172, 1996.
  13. Hermann R, et.al.: Physicians' Attitudes Regarding Down Syndrome. J Child Neurol, 11(1), 66-70, 1996.
  14. Silva M, et.al.: Early Clinical and EEG Features of Infantile Spasms in Down Sydrome. Epilepsia, 37(10), 977-982, 1996.
  15. Berk AT, et.al.: Ocular Findings in 55 Patients with Down Sydrome. Ophthalmic Genet, 17(1), 15-19, 1996.
  16. Schepis C, et.al.: Milia-like Idiopathic Calcinosis Cutis: an unusual dermatosis associated with Down Syndrome. Br J Dermatol, 13(), 143-146, 1996.
  17. Johannsen P, et.al.: Epilepsy in Down Syndrome- Prevalence in Three Age Groups. Seizure, 5(2), 121-125, 1996.
  18. Moore SW, et.al.: Hirschsprung's disease: genetic and functional Associations of Down's and Waardenburg syndromes. Semin Pediatr Surg, 7(3), 156-161, 1998.
  19. Desai SS, et.al.: Orthodontic considerations in individuals with Down Syndrome. A case report. Angle Orthod, 69(1), 85-88, 1999.
  20. Yarat A, et.al.: Salivary sialic acid, protein, salivary flow rate, PH, buffering capacity and caries indices in subjects with Down's Syndrome. J Dent, 27(2), 115-118, 1999.
  21. Stowe CD, et.al.: Altered clearance of theophylline in children with Down Syndrome: a case series. J Clin Pharmacol, 39(4), 359-365, 1999.
  22. Dourmishev A, Miteva L, Mitev V, Pramatarov K, Schwartz RA. Cutaneous aspects of Down syndrome.Cutis. 2000 Dec;66(6):420-4.
  23. Dai AI, Shaikh ZA, Cohen ME. Early-onset Moyamoya syndrome in a patient with Down syndrome: case report and review of the literature. J Child Neurol. 2000 Oct;15(10):696-9. Review.
  24. Lueder GT. Treatment of nasolacrimal duct obstruction in children with trisomy 21.J AAPOS. 2000 Aug;4(4):230-2.
  25. Ani C, Grantham-McGregor S, Muller D. Nutritional supplementation in Down syndrome: theoretical considerations and current status. Dev Med Child Neurol. 2000 Mar;42(3):207-13.
  26. Capone, George T. Down Syndrome and Autistic Spectrum Disorder. Click here for more.

Subscription Publications

  1. Down Syndrome News: The Newsletter of the National Down Syndrome Congress, National Down Syndrome Congress, 1800 Dempster Street, Park Ridge, Illinois 60068-1146. 1-(800)-232-NDSC (Published 10 times/year)
  2. Down Syndrome Papers and Abstracts for Professionals ceased publication November, 1993.
  3. Down's Syndrome Research and Practice, The Sarah Duffen Center, Belmont Street, Southsea, Hants PO5 1NA, England.
  4. 4. Kumin L: Communicating Together. Published 6x/yr. by Communicating Together, P.O. Box 6395, Columbia, MD 21045-6395, (410) 995-0722, $20/yr. Excellent articles concerning speech and language issues in children with DS.
  5. 5. Down Syndrome Quarterly. A quarterly journal with first publication March 1996. Being published again beginning January, 2007 by Down Syndrome International. Managing Editor is Josephine Mills. Address: Down Syndrome Quarterly, 1409 Sperling Avenue, Burnaby, B.C., Canada V5B 4J8. Individual subscriptions are CND$45/year + CND$8 postage to the U.S., phone: (604) 444-3773, fax: (604) 431-9248.
  6. Down Syndrome Amongst Us. A magazine which addresses the medical, educational, psychological, emotional and religious needs of Jewish individuals with Down Syndrome. Contact editor Sarah Sanders at (718) 834-2055, FAX (718) 834-5255.

Resources for Parents

Books and Pamphlets

  1. Stray-Gundersen. Babies With Down Syndrome - A New Parents Guide, Woodbine Press, 1986.
  2. Pueschel SM. A Parent's Guide to Down Syndrome - Toward a Brighter Future. Paul H. Brookes Publishing, 1990.
  3. Simons R. After the Tears - Parents Talk About Raising a Child with a Disability. Harcourt Brace Jovanovitch, 1987.
  4. Pueschel SM. The Young Person with Down Syndrome - Transition from Adolescence to Adulthood. Paul H. Brookes Publishing, 1988.
  5. Hanson MJ. Teaching the Infant with Down Syndrome - A Guide for Parents and Professionals. Pro-Ed, 1987.
  6. Callanan CR. Since Owen - A Parent-to-Parent Guide for Care of the Disabled Child. Johns Hopkins Press, 1990.
  7. Powell TH, Ogle PA. Brothers and Sisters - A Special Part of Exceptional Families. Paul H. Brookes Publishing Co., 1985.
  8. La Leche League. Breast Feeding the Baby with Down Syndrome. La Leche League, P.O. Box 1209, Franklin Park, Illinois 60131, (312) 455-1891.
  9. Featherstone H. A Difference in the Family: Living with a Disabled Child. Penguin Books, 1980.
  10. Gaylord-Ross R. Integration Strategies for Students with Handicaps. Paul H. Brookes Publishing, 1989.
  11. Thompson CE. Raising a Handicapped Child. Ballantine Books,NY. 1986.
  12. Musselwhite CR. Adaptive Play for Special Needs Children: Strategies to Enhance Communication and Learning. A College-Hill Publication, Little, Brown and Company, 1986.
  13. Stainback S, Stainback W, Forest M. Educating All Students in the Mainstream of Regular Education. Paul H. Brookes Publishing, 1989.
  14. Down Syndrome News, National Down Syndrome Congress, 232-NDSC.
  15. Exceptional Parent, Psy-Ed Corporation, 1770 Commonwealth Avenue, Boston, MA 02134, (800) 247-8080.
  16. Sharing Our Caring, Caring, P.O. Box 400, Milton, WA 98354, (206) 922-5680.
  17. National Down Syndrome Society, (800) 221-4602.
  18. Down Syndrome Adoption Exchange. Janet Marchese, 56 Midchester Ave, White Plains, NY 10606, (914) 428-1236.

Computer Information & Software

  1. Alliance for Technology Access, 2173 East Francisco Blvd., Suite L, San Rafael, CA. 94901, (415) 455-4575. Will supply you with a list of centers offering software.
  2. Laureate Learning Systems, 110 East Spring Street, Winooski, VT. 05404, (800)562-6801, fax (802) 655-4757. Publish speech and language software.
  3. The RESNA Technical Assistance Project, 1100 Connecticut Ave. NW Suite 700, Washington DC, 20036, (202) 857-1140. Will supply names of state centers funded under the "Technology-Related Assistance for Individuals with Disabilities Act".
  4. The National Institute on Disability and Rehabilitative Research(NIDRR), (800) 949-4232. Will supply names of regional agencies that provide assistance with technology for disabled persons.
  5. The National Down Syndrome Society, 666 Broadway, Suite 810, New York, NY 10012, (800) 221-4602. Publishes guides to software and hardware for children with DS.
  6. Broderbund Software, P.O. Box 6125, Novato, CA 94948-6125, (800)521-6263.
  7. Edmark Software, P.O. Box 3218, Redmond, WA 98073, (800)362-2890.
  8. Parent's Guide to Educational Software for Young Children, 1992. MECC, 3490 Lexington Ave, North, St. Paul, MN 55126.
  9. Parrot Software, P.O. Box 250755, West Bloomfield, MI 48325, (800) 727-7681.
  10. PEAL Software, ATTN: Karen Lafitte, 8505 Gulana Ave., Unit 4103, Playa Del Rey, CA 90293, (310) 551-8585.
  11. America ONLINE, (800)827-6364. Subscription computer service with aDown Syndrome interactive group.
  12. CompuServe. 5000 Arlington Centre Blvd., P.O. Box 20212, Columbus, OH 43220. (800) 848-8990, fax (614) 457-8149. Similar to America ONLINE but more extensive.
  13. WIDnet (The World Institute on Disability), (800) 695-4005.
  14. Wolf M. NET Guide. 1994, New York, NY. Random House Electronic Publishing. Information on the information highways.
  15. INTERNET Yellow Pages. Similar to NET Guide above.
  16. Computer Resources for People with Disabilities. Hunter House Pub.: P.O. Box 2914, Alameda, CA., 1994.
  17. Haugland S., Shade D. Developmental Evaluations of Software for Young Children. (800) 347-7707.
  18. Apple Worldwide Disability Solutions Group, Apple Computer, Inc.,20525 Mariani Avenue, Cupertino, CA 95014 (800) 732-3131.
  19. Center for Special Education Technology, 1920 Association Dr.,Reston, VA 22901.
  20. IBM Independence Series Information Center, 1000 NW 51st. St.,Boca Raton, FL 33432, (800) 426-4832.
  21. Technology for Language and Learning, P.O. Box 327, East Rockaway, NY 11518.
  22. TASH (The Association for Persons with Severe Handicaps),7010 Roosevelt Way, NE, Seattle, WA 98115, (206) 523-8446.
  23. The U.S. Society for Augmentative and Alternative Communication,Barkley Memorial Center, University of Nebraska, Lincoln, NE 68588 472-5463.
  24. International Society for Augmentative and Alternative Communication (ISAAC), P.O. Box 1762, Station R, Toronto, ONT M4G 4A3,737-9308.
  25. Andover Publications, Journals Fulfillment Dept. 80 Mnotvale Ave.,Stoneham, MA 02180. (800) 366-2665.
  26. Berta-Max Ed. Software, 2901 T Ave., Unit 26, Anacortes, WA 98221-2880 (206) 293-1978.
  27. Closing the Gap, PO Box 68, Henderson, MN 56044, (612) 248-3294.
  28. Colorado Easter Seals Center for Adaped Tech., 577 W. Alameda Ave. Lakewood, CO 80226, (303) 233-1666.
  29. Creative Communicating, P.O. Box 3358, Park City, UT 84060, (801)645-7737.
  30. Crestwood Company, 6625 N. Sidney Place, Milwaukee, WI 53209-3259, (414) 352-5678.
  31. Don Johnson Developmental Equipment Co., 1000 N. Rand Rd, Building 115, Wauconda, IL 60084, (800) 999-4660.
  32. Dunamis, 3680-F Hwy. 317, Suwanee, GA 30174, (800) 828-2443.
  33. Educational Resources, 1550 Executive Dr., Elgin, IL 60123-9330, (800) 624-2926.
  34. Educorp, 7434 Trade St., SanDiego, CA 92121-2410 (800) 843-9497.
  35. Enabling Devices & Toys for Special Children, 385 Warburton Avenue, Hastings-On-Hudson, NY 10706, (914) 478-0960.
  36. Exceptional Computing, 450 NW 58th. St., Gainesville, FL 32607, (904) 331-4164.
  37. Harper Collins College Publishers, ATTN: Mark Paluch, 10 East 53rd.St., 2nd. Floor, New York, NY 10022.
  38. Hartley, 3451 Dunkel Rd, Suite 200, Lansing, MI 48911-4216, (800) 9HARTLEY.
  39. Intellitools, 55 Leveroni Ct, Suite 9, Novato, CA 94949, (800) 899-6687.
  40. MacWarehouse, P.O. Box 3013, 1720 Oak St, Lakewood, NJ 08701-3013, 255-6227.
  41. Mayer-Johnson Company, P.O. Box 1579, Solano Beach, CA 92075-1579, (619) 550-0084.
  42. 42. Milliken, 1100 Research Blvd, PO Box 21579, St. Louis, MO 63132-0579, 325-4136.
  43. Mr. Disk Shareware, 5915 Casey Dr., Knoxville, TN 37909-1808, (800) 833-8674.
  44. National Lekotek Center, 2100 Ridge Ave, Evanston, IL 60204, (800) 366-PLAY.
  45. PC Books and Special Promotions, 252 E Mountain Dr., Fayetteville, NC 28306, (800) 426-9400.
  46. Prentke-Romich Company, 1022 Heyl Road, Wooster, OH 44691, (800) 262-1984.
  47. Quality Computers, 20200 Nine Mile Rd., PO Box 349, St. Claire Shores, MI 48080, (800) 777-3642.
  48. R.E.A.C.H. Inc., 992 Hearthstone Place, Stone Mountain, GA 30083, (404) 292-8933.
  49. R.J. Cooper and Associates, 24843 Del Prado, #283, Dana Point, CA 92629 (800) RJCOOPER.
  50. Sunburst, 101 Castleton St., PO Box 100, Pleasantville, NY 10570-0100, (800) 321-7511.
  51. T.A.S.H.,Inc., Unit 1, 91 Station St., Ajox, ON L1s 3H2, Canada. (905) 686-4129.
  52. Trace Center, 1500 Highland Avenue, Rm. S-151, Waisman Center, Madison, WI 53705, (608) 262-6966.
  53. UCLA Microocmputer Project, 1000 Veteran Ave, m. 23-10, Los Angeles, CA 90024-1797, (213) 825-4821.

Last updated: 12/24/2017