Trisomy 21 in Adulthood

Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France)

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.

Study Overview

• Status: Unknown
• Conditions: Down Syndrome
• Intervention / Treatment: Genetic: karyotype

• Study Type: Observational
• Enrollment (Anticipated): 80

Contacts and Locations

Study Locations

• France
  • Strasbourg, France, 67091
    • Recruiting
    • Hopitaux universitaires de Strasbourg
    • Contact: ALEMBIK Yves, MD; Phone Number: 33.3.88.12.50.89; Email: yves.alembik@chru-strasbourg.fr
    • 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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)

Description

Inclusion Criteria:

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

Exclusion Criteria:

• children
• pregnancy

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Trisomy 21 (Down syndrome)	Genetic: karyotype

Collaborators and Investigators

• Sponsor: University Hospital, Strasbourg, France
• Investigators: Principal Investigator: ALEMBIK Yves, MD, Hopitaux universitaires de Strasbourg

Publications and helpful links

General Publications

• Dieudonne Y, Uring-Lambert B, Jeljeli MM, Gies V, Alembik Y, Korganow AS, Guffroy A. Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue. Front Immunol. 2020 May 8;11:840. doi: 10.3389/fimmu.2020.00840. eCollection 2020.
• Guffroy A, Dieudonne Y, Uring-Lambert B, Goetz J, Alembik Y, Korganow AS. Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center. Orphanet J Rare Dis. 2019 Jan 11;14(1):15. doi: 10.1186/s13023-018-0989-x.

Study record dates

Study Major Dates

• Study Start: November 1, 2014
• Primary Completion (ANTICIPATED): October 1, 2019
• Study Completion (ANTICIPATED): October 1, 2019

Study Registration Dates

• First Submitted: August 8, 2012
• First Submitted That Met QC Criteria: August 8, 2012
• First Posted (ESTIMATE): August 13, 2012

Study Record Updates

• Last Update Posted (ACTUAL): June 21, 2019
• Last Update Submitted That Met QC Criteria: June 20, 2019
• Last Verified: June 1, 2019

More Information

Terms related to this study

• Keywords: Down syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Aneuploidy; Chromosome Duplication; Down Syndrome; Trisomy
• Other Study ID Numbers: 5249