Down Syndrome (Down's Syndrome)

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4052 relevant articles (96 outcomes, 452 trials/studies) found for this Disease

Description: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Also Known As:

Down's Syndrome; Trisomy 21; Downs Syndrome; Syndrome, Down; Trisomy 21, Meiotic Nondisjunction; Mongolism; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome; Trisomy 21, Mitotic Nondisjunction; Syndrome, Down's

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 3422

Neurologic Manifestations: 2879

Neurobehavioral Manifestations: 298

Mental Retardation: 2551

Down Syndrome: 4052

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Congenital Abnormalities: 9332

Multiple Abnormalities: 120

Down Syndrome: 4052

Chromosome Disorders: 63

Down Syndrome: 4052

Inborn Genetic Diseases: 549

Chromosome Disorders: 63

Down Syndrome: 4052

Related Diseases

1.	Alzheimer Disease (Alzheimer's Disease)
2.	Dementia (Dementias)
3.	Otitis Media with Effusion
4.	Trisomy
5.	Neural Tube Defects (Exencephaly)

Experts

1.	Lubec, G: 46 articles (01/2007 - 09/2000)
2.	Fountoulakis, M: 23 articles (01/2007 - 01/2001)
3.	Cairns, N: 19 articles (11/2006 - 09/2000)
4.	Spencer, K: 18 articles (05/2008 - 02/2000)
5.	Lubec, Gert: 13 articles (12/2007 - 01/2002)
6.	Engidawork, E: 12 articles (01/2007 - 12/2000)
7.	Nicolaides, K H: 10 articles (06/2008 - 08/2000)
8.	Gulesserian, T: 10 articles (01/2007 - 12/2000)
9.	Dierssen, M: 10 articles (11/2006 - 01/2001)
10.	Kim, S H: 10 articles (01/2003 - 09/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Down Syndrome:

1.	alpha-Fetoproteins (AFP)IBA 08/01/2002 - "CONCLUSION: Integration of NT and second trimester serum AFP and hCG assay yielded the best screening efficacy for Down syndrome." 03/01/1999 - "CONCLUSIONS: A policy of first trimester scanning followed by serum alpha-fetoprotein screening and additional scanning as clinically indicated is effective in detecting major structural abnormalities, but scanning at 18-22 weeks and serum biochemical screening for trisomy 21 improved the detection rates" 08/01/1994 - "CONCLUSION: These results support the mathematical model that hCG is the major contributor to the increased sensitivity of multi-analyte screening and demonstrate that screening programs can attain substantial improvement in detection of second-trimester Down syndrome by adding hCG to AFP and age." 12/01/1995 - "AFP, hCG, uE3] has been found effective in identifying the majority of pregnancies with Down syndrome in the second trimester" 03/01/2000 - "CONCLUSIONS: A new algorithm combining humerus length and nuchal thickness measurement with serum AFP, hCG and maternal age substantially improved Down syndrome screening efficiency compared with the traditional triple screen" Order ALL the reference details at left...
2.	Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric 02/01/1994 - "The median maternal serum free beta human chorionic gonadotropin (hCG) multiple of the median (MOM) of 480 Down syndrome cases in the second trimester was 2.64, significantly greater than the reported median MOM of intact hCG (p < 0.0001)" 03/01/2007 - "CONCLUSION: The results of our analysis suggest that in a first-trimester Down syndrome screening protocol free beta-human chorionic gonadotropin achieves higher sensitivity and lower false-positive results than intact human chorionic gonadotropin " 09/01/2007 - "OBJECTIVE: The purpose of this study was to compare the effectiveness between total human chorionic gonadotropin (hCG) and free beta-hCG in two-marker Down syndrome screening programs during the second trimester in a Taiwanese population" 03/01/2007 - "Meta-analysis of first trimester Down syndrome screening studies: free beta-human chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol." 03/01/1998 - "Published studies have reached varying conclusions as to the benefit of replacing human chorionic gonadotropin (hCG) measurements with the free beta-subunit of hCG (the free beta-subunit) for Down syndrome screening" Order ALL the reference details at left...
3.	Biological Markers (Surrogate Marker)IBA 06/01/2006 - "OBJECTIVES: In prenatal screening for Down syndrome, serum marker values can be adjusted using values from a previous pregnancy to avoid the problem of women having a high chance of recurrent false-positive results" 04/01/2008 - "BACKGROUND: First-trimester maternal serum screening for Down syndrome (DS) can be improved by the use of additional serum markers" 10/01/2004 - "A number of serum markers have been proposed to improve the sensitivity (and specificity) of the triple test, which, until now, has been the gold standard in second-trimester serum screening for Down's syndrome" 06/01/2000 - "The addition of second trimester serum markers to maternal age increases the efficacy of screening for Down syndrome by maternal age alone" 01/01/1991 - "These results confirm the efficacy of screening for Down syndrome using maternal age and three serum markers." Order ALL the reference details at left...
4.	Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA 01/01/2006 - "CONCLUSIONS: First trimester screening using maternal age, NT, free beta-hCG and PAPP-A is highly effective for the detection of trisomy 21 and is associated with a sensitivity of about 90% for 5% false-positive patients." 06/01/1998 - "This study evaluates diagnostic efficacy of PAPP-A and F beta-hCG in the detection of first trimester pregnancy abnormalities, including Down syndrome (DS)" 12/01/2007 - "First trimester screening for Down syndrome using free beta hCG, total hCG and PAPP-A: an exploratory study." 08/01/2006 - "Repeated measurement of pregnancy-associated plasma protein-A (PAPP-A) in Down syndrome screening: a validation study." 11/01/2005 - "In a preliminary study we showed that while PAPP-A levels were lower and free beta-hCG levels were higher in trisomy 21 fetuses with an absent nasal bone, this difference was not statistically different" Order ALL the reference details at left...
5.	donepezil (Aricept)FDA Link 07/01/2007 - "Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series." 03/01/2005 - "Dramatic improvement in Down syndrome-associated cognitive impairment with donepezil." 01/15/2003 - "Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial." 08/01/2005 - "AIMS: To assess the efficacy and safety of a pharmacological treatment with donepezil over cognitive and behavioral disturbances on patients with Down syndrome older than 40 years, areas where family and professional educators of reference have observed cognitive and behavioral changes in comparison with their previous level of disability" 03/01/2005 - "DISCUSSION: Patients with Down syndrome may be more sensitive to donepezil therapy than others and may benefit from this medicine, although they may also have adverse effects more frequently" Order ALL the reference details at left...
6.	Estriol (Epiestriol)IBA 02/01/1998 - "This compares favorably to the standard combination of MSAFP, hCG, and unconjugated estriol (E3), which had a 66.7% Down syndrome detection rate and a 4.1% screen positive rate in our study samples" 03/01/1990 - "Study of 41 known Down syndrome cases and 441 matched controls did not confirm earlier reports that low unconjugated estriol levels can be used to detect fetal Down syndrome" 11/01/2007 - "Pregnant women are offered a biochemical screening test for Down syndrome in the second trimester, where the suspicion for SLOS could be registered, when the unconjugated estriol (uE3) level appears low" 04/01/2002 - "RESULTS: Hydropic Down syndrome pregnancies had significantly lower MSAFP and estriol concentrations, while hCG levels were higher" 04/01/2000 - "To investigate the relationship between low unconjugated estriol (uE3) levels in the second trimester and adverse perinatal outcomes in pregnancies without increased risk for Down's syndrome, 1,096 women under 35 years of age underwent a mid-trimester AFP-hCG-uE3 screening test between January 1995 and June 1998" Order ALL the reference details at left...
7.	inhibin AIBA 11/01/2006 - "METHODS: Seventy-nine matched case-control sets of maternal serum samples (each Down syndrome case matched to 5 controls) from 11 through 13 completed weeks of gestation were taken from the sample bank of the First and Second Trimester Evaluation of Risk Consortium, a population-based study, and assayed for levels of free beta-hCG, total hCG, and inhibin A" 04/01/2004 - "CONTEXT: Several studies report the role of dimeric inhibin-A in assessing risk for fetal Down syndrome" 06/01/2000 - "Native Japanese dimeric inhibin A median values in this study are 1.77 times higher in Down's syndrome cases than in unaffected pregnancies" 03/01/1998 - "The aim of this study was to evaluate the additional value of dimeric inhibin-A serum concentration in second trimester multiple-marker screening tests for pregnancies affected by Down's syndrome" 11/01/1997 - "STUDY DESIGN: With use of a commercially available enzyme-linked immunosorbent assay (Serotec, Oxford) inhibin A medians were established in stored sera from 40 to 50 euploid pregnancies at each week of gestation from 14 to 20 weeks and from 33 Down syndrome pregnancies" Order ALL the reference details at left...
8.	HormonesIBA 04/10/1991 - "Pregnancy hormone levels signal trisomy 21, improved screening, lower costs possible." 01/01/1991 - "Lack of efficacy of short term thyroid hormone therapy in Down syndrome." 05/01/1989 - "Short-term efficacy of thyroid hormone supplementation for patients with Down syndrome and low-borderline thyroid function." 03/01/1977 - "Studies on thyroid and hypophysary thyrotrophic hormone (TSH) in Down syndrome." 07/01/2004 - "As Dyrk1A is an activator of steroid hormone-regulated transcription, the overexpression of DYRK1A in persons with Down syndrome may cause rather broad changes in the homeostasis of steroid hormone-controlled cellular events." Order ALL the reference details at left...
9.	DNA (Deoxyribonucleic Acid)IBA 01/01/2005 - "This improved methodology is proposed for longitudinal in vivo studies and in the present work its application made it possible to assess a significant increase of DNA in pediatric Down Syndrome patients compared to healthy controls of the same age." 07/04/1998 - "INTERPRETATION: The PCR-based DNA diagnostic test has great potential for improved prenatal diagnosis of Down's syndrome, with the advantage that results may be available within a day." 04/30/2005 - "This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid" 10/01/2004 - "METHODS: The DNA samples from 19 trisomy 21 patients, 3 at-risk fetuses of trisomy 21 and a total of 44 samples from their parents as controls were drawn for this study, in which the trisomy 21 was determined by G-band karytyping" 07/01/2003 - "CONCLUSIONS: Although we could not confirm previous studies of an increased amount of fetal DNA in pregnancies affected by trisomy 21, we did find increased levels of total DNA" Order ALL the reference details at left...
10.	Placental HormonesIBA 03/01/2002 - "The high detection rate (DR) for Down syndrome (DS) pregnancies which can be achieved by measuring fetal nuchal translucency (NT) early in pregnancy can be improved by combining it with placental hormones [pregnancy-associated plasma protein A (PAPP-A) and free beta-human chorionic gonadotrophin (fbeta-hCG)] and maternal age ('combined test')" 05/01/2001 - "The high detection rate (DR) for Down syndrome pregnancies which can be achieved by measuring fetal nuchal translucency (NT) early in pregnancy can be improved by combining it with placental hormones (PAPP-A, f beta hCG) and maternal age ("combined test")" Order ALL the reference details at left...

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 01/01/2003 - "Despite these improvements in chemotherapy, allogeneic BMT from a matched family donor remains the best option for most patients (excluding Down syndrome, APL, and possibly those with inv16)" 07/01/1999 - "CONCLUSION: Neonates with Down's syndrome and abnormal myelopoesis may achieve spontaneous remission, and older children with Down's syndrome and AML can be treated successfully with intensive chemotherapy, without BMT." 01/01/2008 - "DISCUSSION: Congenital leukaemias, with trisomy 21 on blasts cells have a good prognosis that justifies observation before using chemotherapy." 04/01/2007 - "Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome." 10/01/2005 - "The MDS and AML are part of a single disease entity (myeloid leukaemia of Down syndrome) that is extremely sensitive to chemotherapy" Order ALL the reference details at left...
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 11/01/1993 - "The factors associated with an increased risk of remission death were: young age, a higher leucocyte count, bone marrow transplantation, and Down's syndrome" 11/15/2008 - "Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non-Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay." 03/01/1999 - "The authors discuss a two-year-old male with Down syndrome who presented 2 months after allogeneic bone marrow transplantation with severe oculogyric crisis, without other complaints" 09/01/1996 - "We report 18 patients with Down's syndrome who underwent bone marrow transplantation, and review nine previously published patients" 09/01/1996 - "Bone marrow transplantation for the treatment of haematological disorders in Down's syndrome: toxicity and outcome." Order ALL the reference details at left...
3.	Adenoidectomy 01/01/2004 - "CONCLUSIONS: The results of the study suggest that the efficacy of adenoidectomy in children with Down syndrome is significantly less than that in controls and should influence surgical decision making in these children." 01/01/2004 - "OBJECTIVE: To compare the efficacy of adenoidectomy in children with Down syndrome and control patients" 01/01/2004 - "Efficacy of adenoidectomy in the treatment of nasal and middle ear symptoms in children with Down syndrome." 01/01/2004 - "Patients with Down syndrome were 7.7 times (95% confidence interval, 2.3-25.3) more likely to have chronic ear drainage after adenoidectomy" 01/01/2004 - "METHODS: Medical records were reviewed for preoperative symptoms, ear complaints, date and reason for adenoidectomy, and postoperative symptoms in 27 children (mean age, 6.0 years; range, 1.6-14.5 years) with Down syndrome and 53 age- and sex-matched controls who had adenoidectomy between January 1978 and September 1997" Order ALL the reference details at left...
4.	Middle Ear Ventilation (Tympanostomy) 08/05/1999 - "The present study was carried out to determine the efficacy of tympanostomy tube insertion in children with Down syndrome" 08/05/1999 - "CONCLUSION: The efficacy of the tympanostomy tube insertion for children with Down syndrome was much lower than in control children" 08/05/1999 - "Moreover, improvement in hearing acuity after the placement of tympanostomy tubes was not always achieved in children with Down syndrome" 08/05/1999 - "The children with Down syndrome had more frequent episodes of otorrhea from the tympanostomy tubes than the control children and antibiotic-resistant-bacteria were frequently isolated" 08/05/1999 - "PATIENTS AND METHODS: We studied 28 children (18 males and ten females) with Down syndrome and 28 age-matched control children who underwent tympanostomy tube insertion and were followed up for more than 2 years, up to 7 years of age or older" Order ALL the reference details at left...
5.	Transplants (Transplant) 02/01/1996 - "For deaths in first remission analysis showed an increased risk for bone marrow transplant (BMT) patients and children with Down's syndrome" 08/01/1998 - "By means of a questionnaire sent to participating renal centers of the North American Pediatric Renal Transplant Cooperative Study, this study identified 14 Down syndrome patients who received renal transplants between January 1987 and November 1995" 04/01/2008 - "RESULTS: Significant variables include patient age, number of prior tubes, perforation etiology (P < .000), presence of a retained tube (P < .000) as well as tube type (P = .016), graft material (P = .001), and history of Down syndrome (P = .035)" 12/01/2003 - "We report a 10-year-old male with Down's syndrome, who received a bone marrow transplant for acute lymphoblastic leukaemia" 03/01/1997 - "The patient relapsed at 165 days post-transplant with the 20q- marker and trisomy 21" Order ALL the reference details at left...

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