Navigation Links
Seventy Years Old and Going Strong With Down Syndrome and No Dementia: The Case of 'Mr. C' Causes Major Interest in the Scientific Community
Date:8/18/2008

Study findings offer hope for increased life expectancy for people with Down syndrome

WASHINGTON, Aug. 18 /PRNewswire-USNewswire/ -- In the world of Down syndrome, 'Mr. C' is a rarity. A real person whose progress has been tracked for the past 16 years, at seventy, 'Mr. C' has well surpassed the average life expectancy of a person with Down syndrome, currently in the late fifties, but in the teens when 'Mr. C' was born. Further, 'Mr. C' does not exhibit clinical symptoms of Alzheimer's disease, which is almost a given for people with typical Down syndrome over 65 yeas of age. 'Mr. C,' while remaining nameless, puts an optimistic face on the future of aging for people with Down syndrome, as scientists ask the critical question: What is it about 'Mr. C's' individual characteristics and experiences that have made him not only live longer, but also age successfully despite having Down syndrome? The case of 'Mr. C,' including descriptions of comprehensive cognitive, behavioral, and genetic analyses and implications for research is published in the June 2008 issue of the journal, Intellectual and Developmental Disabilities. To read "Successful Aging in a 70-Year-Old Man With Down Syndrome: A Case Study" by Sharon J. Krinsky-McHale et al., visit http://www.aaidd.org/Reading_Room/pdf/IDDMrCJune2008.pdf.

"'Mr. C' paints an optimistic picture for people with Down syndrome who are aging, and says that an ordinary person with Down syndrome ought to be able to make it to seventy, once you find 'Mr. C's' secret," explains Dr. Sharon J. Krinsky-McHale, lead author of the study and Research Scientist at the New York State Institute for Basic Research in Developmental Disabilities.

People with Down syndrome are born with an extra copy of Chromosome 21, and these third copies of genes on Chromosome 21 lead to an overproduction of certain proteins that cause the phenotype of Down syndrome, including familiar facial features, congenital heart diseases, cognitive impairments, and other conditions. Previous studies of people with Down syndrome over 75 years of age have found that they usually do not have typical Down syndrome, which 'Mr. C' does. That is, these previous cases did not have three complete copies of Chromosome 21 throughout all the cells in their bodies, but had an atypical Down syndrome genotype, explaining why they may have been less severely affected and why they had a higher life expectancy. However, 'Mr. C' is aging successfully despite having complete Trisomy 21, making this the first case of its kind reported in scientific literature.

"The understanding in the field till very recently was that if you had Down syndrome and were lucky enough to make it to 70 years of age, then you would have to have Alzheimer's disease," explains Wayne Silverman, the study's co-author and Director of Intellectual Disabilities Research at the Kennedy Krieger Institute in Baltimore. "But now, we have 'Mr. C,' who clearly contradicts this longstanding assumption and offers a new benchmark and tremendous hope for all people with Down syndrome to live longer and healthier lives."

The processes regulating aging and dementia are complex and it is unlikely that any single mechanism can fully explain the array of changes that occur with aging. While future research could take several directions, including studies of risk factors like cholesterol or the bio availability of estrogen, Silverman explains that the area of gene expression offers promise at this time. While an extra copy of Chromosome 21 in a person causes an overabundance of some proteins, one possible explanation for 'Mr. C's' successful aging and increased life expectancy is that, for one reason or another, he does not actually have an overexpression of all the genetic material that comes along with his extra copy of Chromosome 21.

Intellectual and Developmental Disabilities is among the top journals in special education and is published by the American Association on Intellectual and Developmental Disabilities (http://www.aaidd.org).

Founded in 1876, AAIDD promotes progressive policies, sound research, effective practices and universal human rights for people with intellectual and developmental disabilities.


'/>"/>
SOURCE American Association on Intellectual and DevelopmentalDisabilities
Copyright©2008 PR Newswire.
All rights reserved

Related medicine technology :

1. Study Shows Combination Therapy Incorporating AVODART(R) and Tamsulosin Provides Continuous Symptom Improvement Over 2 Years
2. Recipient of Melanoma Drug in Development Celebrates Two Cancer-Free Years
3. Long-Term Data from a Landmark Phase III Trial Show Survival Benefit at Three- and Four-Years in Patients with Glioblastoma multiforme
4. U.S. Food and Drug Administration Approves ABILIFY(R) (aripiprazole) for the Acute Treatment of Manic and Mixed Episodes Associated With Bipolar I Disorder in Pediatric Patients (10 to 17 Years of Age)
5. GSK Cervical Cancer Candidate Vaccine CERVARIX (R) Demonstrates Long-Term Protection for More Than Six Years
6. VIDEO: Femara(R) helps protect against return of breast cancer even when treatment starts several years after completing tamoxifen therapy
7. New Trial Presented at AAAAI Reports that the Growth of Children 2-5 Years Old with Year-Round Allergic Rhinitis Continued According to Normal Age-Adjusted Distribution Over a 6-Month Treatment with Nasacort AQ
8. Treatment Gives Lung Cancer Patients With Inoperable Tumors Two Years or More
9. BARACLUDE(R) (entecavir) Data Continue to Demonstrate Low Incidence of Resistance Through Five Years of Treatment in Nucleoside-naive Chronic Hepatitis B Patients
10. Abbotts XIENCE(TM) V Drug Eluting Stent Demonstrates Consistent and Positive Clinical Outcomes Out to Two Years
11. U.S. Food and Drug Administration Approves ORENCIA(R) (abatacept) for the Treatment of Moderate-to-Severe Polyarticular Juvenile Idiopathic Arthritis (JIA) in Patients Six Years and Older
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/23/2016)... 23, 2016 Any dentist who has made an ... current process. Many of them do not even offer this ... and high laboratory costs involved. And those who ARE able ... such a high cost that the majority of today,s patients ... Parsa Zadeh , founder of Dental Evolutions Inc. and ...
(Date:6/23/2016)... 23, 2016 Capricor Therapeutics, ... a biotechnology company focused on the discovery, development ... patient enrollment in its ongoing randomized HOPE-Duchenne clinical ... 50% of its 24-patient target. Capricor expects the ... quarter of 2016, and to report top line ...
(Date:6/23/2016)... and BOGOTA, Colombia , June 23, 2016  Astellas today announced the establishment of ... Farma Brasil as the company,s second affiliate in Latin America . ... ... Manager of Astellas Farma Colombia ... ...
Breaking Medicine Technology:
(Date:6/24/2016)... ... June 24, 2016 , ... A recent article ... are unfamiliar with. The article goes on to state that individuals are now more ... these less common operations such as calf and cheek reduction. The Los Angeles area ...
(Date:6/24/2016)... ... June 24, 2016 , ... June 19, 2016 is World Sickle ... chronic pain and the benefits of holistic treatments, Serenity Recovery Center of ... Sickle Cell Disease. , Sickle Cell Disease (SCD) is a disorder of the red ...
(Date:6/24/2016)... ... 2016 , ... The Pulmonary Hypertension Association (PHA) learned during ... two significant new grants to support its work to advance research and patient ... recognizing patients, medical professionals and scientists for their work in fighting pulmonary hypertension ...
(Date:6/24/2016)... San Francisco, CA (PRWEB) , ... June 24, ... ... at CitiDent, is now offering micro-osteoperforation for accelerated orthodontic treatment. Dr. Cheng has ... , self-ligating Damon brackets , AcceleDent, and accelerated osteogenic orthodontics. , ...
(Date:6/24/2016)... ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief Products, ... minimum wage raise to $12 an hour by 2020 and then adjusting it yearly to ... value of the minimum wage, assure the wage floor does not erode again, and make ...
Breaking Medicine News(10 mins):