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Trisomy 21 in Adulthood

This study is currently recruiting participants.
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Verified November 2016 by University Hospital, Strasbourg, France
Information provided by (Responsible Party):
University Hospital, Strasbourg, France Identifier:
First received: August 8, 2012
Last updated: November 22, 2016
Last verified: November 2016
Trisomy 21 or Down syndrome, is the most common genetic cause of cognitive disability. Currently, in Alsace, the birth prevalence is about 1 in 1600 live births, which means 10 liveborns with Down syndrome each year.If screening and prenatal diagnosis of children with trisomy 21, as well as medical care, social and educational integration in childhood was the subject of much research and has led to remarkable progress in terms of health and medical care, it is not the same for the knowledge about adolescents and adults.Despite a more and more higher life expectancy, the evolution of trisomy 21 in adulthood is often marked by a deterioration in health status, with a regression of acquired psychomotor skills, often attributed only to the precocious occurrence of Alzheimer's dementia. Nevertheless, it seems that the diagnosis of Alzheimer's dementia is often overdiagnosed, and it is well established that only a fraction of Down syndrome patients will develop this type of dementia. Too often a decline in general health, behavioral changes and decreased cognitive abilities are only attributed to the Down syndrome with an early dementia without looking for an underlying, potentially curable, disease.This study aims to better evaluate the health and social status of 100 adults with trisomy 21 in Alsace. The medical evaluation will include a comprehensive assessment of health status and quality of life conducted by the geneticist, a cardiac, sensory, hormonal, biological and radiological evaluation. A speech-language and psychomotor evaluation will also be conducted. A psychiatric consultation and a psychometric assessment will aim to assess cognitive function and to search for associated mood disorders.The expected results are to better know the natural history of trisomy 21 in adulthood, with the determination of the frequency of morbid events specific to adulthood, and also to improve the medical and paramedical care with the establishment of a monitoring program to prevent the occurrence of these morbid events.

Condition Intervention
Down Syndrome Genetic: karyotype

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France)

Resource links provided by NLM:

Further study details as provided by University Hospital, Strasbourg, France:

Estimated Enrollment: 80
Study Start Date: November 2014
Estimated Study Completion Date: October 2019
Estimated Primary Completion Date: October 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Trisomy 21 (Down syndrome)
Trisomy 21 (Down syndrome)
Genetic: karyotype


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)

Inclusion Criteria:

  • Man or woman older than 18 years
  • Down syndrome (clinical diagnosis, eventually confirmed by blood karyotype)

Exclusion Criteria:

  • children
  • pregnancy
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01663675

Contact: ALEMBIK Yves, MD

Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, France, 67091
Contact: ALEMBIK Yves, MD   
Principal Investigator: ALEMBIK Yves, MD         
Sub-Investigator: SCHAEFER Elise, MD         
Sub-Investigator: EL CHEHADEH Salima, MD         
Sub-Investigator: DOLLFUS Hélène, MD         
Sub-Investigator: TIMBOLSCHI Dana Luiza, MD         
Sub-Investigator: CHRISTMANN Dominique, MD         
Sub-Investigator: MANIERE Marie-Cécile, MD         
Sub-Investigator: DAVIDEAU Jean-Luc, MD         
Sub-Investigator: KOENIG Anne, MD         
Sub-Investigator: ROUL Gérard José, MD         
Sub-Investigator: PETIT-EISENMANN Hélène, MD         
Sub-Investigator: BLOCH-ZUPAN Agnès, MD         
Sub-Investigator: BERNA Fabrice, MD         
Sub-Investigator: PRADIGNAC Alain, MD         
Sub-Investigator: GUFFROY Aurélien, MD         
Sub-Investigator: KREMER Stéphane, MD         
Sub-Investigator: PERDOMO-TRUJILLO Yaumara, MD         
Sub-Investigator: KORGANOW Anne-Sophie, MD         
Sub-Investigator: BLANC Frédéric, MD         
Sub-Investigator: GAZZANO Elise, MD         
Sub-Investigator: BRUN Isabelle, MD         
Sub-Investigator: HIEBEL Jean-Michel, MD         
Sponsors and Collaborators
University Hospital, Strasbourg, France
Principal Investigator: ALEMBIK Yves, MD Hôpitaux Universitaires de Strasbourg
  More Information

Responsible Party: University Hospital, Strasbourg, France Identifier: NCT01663675     History of Changes
Other Study ID Numbers: 5249
Study First Received: August 8, 2012
Last Updated: November 22, 2016

Keywords provided by University Hospital, Strasbourg, France:
Down syndrome

Additional relevant MeSH terms:
Down Syndrome
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Chromosome Aberrations
Pathologic Processes
Chromosome Duplication processed this record on September 21, 2017