Down Syndrome

Physician-authored summaries on the latest research on Down syndrome, editorials on Down syndrome, and perspectives on Down syndrome - drawn from the top medical journals.

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Combined First- and Second-Trimester Screening Techniques for Down Syndrome
- February 24, 2006
- Judith G. Hall, OC, MD
Down syndrome can be accurately identified with sequential first- and second-trimester serum screening and ultrasound for nuchal edema.
- Covering:
  - Malone FD et al., N Engl J Med 2005 Nov 10; 353:2001-11.
  - Simpson JL., N Engl J Med 2005 Nov 10; 353:2068-70.
- Related Searches: chorionic gonadotropin, beta subunit, human, down syndrome, maternal serum analyte testing, pregnancy-associated plasma protein-a, prenatal testing, ultrasound, fetal nuchal translucency
Maternal Diabetes Does Not Increase Risk for Down Syndrome
- February 10, 2003
- Judith G. Hall, OC, MD
It has been suggested that Down syndrome might be more prevalent among infants of diabetic mothers (see Arch Dis Child 1997; 77:242). These researchers used . . .
- Covering:
  - Martinez-Frias ML et al., Am J Med Genet 2002 Nov 1; 112:335-7.
Longevity in Down Syndrome -- Fact and Fancy
- June 10, 2002
- F. Bruder Stapleton, MD
Down syndrome, one of the most common genetic causes of mental retardation, is associated with many congenital defects and acquired conditions. Researchers reviewed the death . . .
- Covering:
  - Yang Q et al., Lancet 2002 Mar 23; 359:1019-25.
Can Vitamin Supplementation Affect Development in Children with Down Syndrome?
- March 19, 2008
- Robin Drucker, MD
In a randomized controlled trial, neither antioxidants nor folinic acid supplementation improved psychomotor or language development.
- Covering:
  - Ellis JM et al., BMJ 2008 Mar 15; 336:594.
- Related Searches: antioxidants, child development, developmental delay, down syndrome, folic acid supplementation, vitamin supplement
Multivitamin Supplementation: No Decrease in Autosomal Trisomy
- May 10, 2004
- Judith G. Hall, OC, MD
Several studies of the rates of autosomal trisomies (including Down syndrome) have failed to show decreased incidence since folic acid fortification of foods was introduced . . .
- Covering:
  - Botto LD et al., Am J Med Genet 2004 Mar 1; 125A:113-6.
Nasal Bones Are Absent in Trisomy 21
- September 8, 2003
- Sandra Ann Carson, MD
Because the risk for having an infant with Down syndrome increases with maternal age, current U.S. practice calls for offering invasive screening procedures (chorionic villus . . .
- Covering:
  - Cicero S et al., Prenat Diagn 2003 Apr; 23:306-10.
Another Reason for Folic Acid Supplementation?
- July 14, 2003
- Judith G. Hall, OC, MD
Abnormal folate metabolism, which is known to be involved in neural tube defects (NTDs), may also play a role in some cases of Down syndrome. . . .
- Covering:
  - Barkai G et al., Lancet 2003 Apr 19; 361:1331-5.
Prader-Willi Syndrome — Changing Proportions of Genetic Subtypes
- March 21, 2007
- Judith G. Hall, OC, MD
Advanced maternal age might explain why more cases of PWS result from maternal uniparental disomy.
- Covering:
  - Whittington JE et al., Eur J Hum Genet 2007 Jan; 15:127-30.
- Related Searches: maternal age, prader-willi syndrome, trisomy, uniparental disomy
No Higher Risk for Chromosomal Abnormalities in Kids of Childhood Cancer Survivors
- August 30, 2004
- Judith G. Hall, OC, MD
The potential for radiation and cancer drugs to produce germ-line mutations has caused concern that the offspring of childhood cancer survivors might have increased risk . . .
- Covering:
  - Winther JF et al., Am J Hum Genet 2004 Jun; 74:1282-5.
Does Prompt Tympanostomy Improve Speech, Language, and Cognitive Development?
- October 14, 2003
- Harlan R. Gephart, MD
Pediatricians have been haunted by concerns that chronic middle-ear effusion (MEE) -- prevalent during the critical period for speech and language development -- causes later . . .
- Covering:
  - Paradise JL et al., Pediatrics 2003 Aug; 112:265-77.
Structural Birth Defects Increase Risk for Mental Retardation
- August 25, 2003
- Harlan R. Gephart, MD
Not much is known about the co-occurrence of mental retardation (MR) and structural birth defects, particularly on a population basis. To investigate the relation between . . .
- Covering:
  - Jelliffe-Pawlowski LL et al., Arch Pediatr Adolesc Med 2003 Jun; 157:545-50.