Trisomy 21 in Adulthood

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2012 by University Hospital, Strasbourg, France.
Recruitment status was  Not yet recruiting
Information provided by (Responsible Party):
University Hospital, Strasbourg, France Identifier:
First received: August 8, 2012
Last updated: NA
Last verified: August 2012
History: No changes posted
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: 100
Study Start Date: October 2012
Groups/Cohorts Assigned Interventions
Trisomy 21 (Down syndrome)
Trisomy 21 (Down syndrome)
Genetic: karyotype


Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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
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Please refer to this study by its identifier: NCT01663675

Contact: DORAY Bérénice 003388128120

Hôpitaux Universitaires de Strasbourg Not yet recruiting
Strasbourg, France, 67000
Contact: DORAY Bérénice    003388128120   
Sponsors and Collaborators
University Hospital, Strasbourg, France
Principal Investigator: DORAY Bérénice 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: August 8, 2012
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

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

Additional relevant MeSH terms:
Down Syndrome
Abnormalities, Multiple
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Intellectual Disability
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations processed this record on May 26, 2016