Trisomy 21 in Adulthood

NCT01663675 | Unknown

• 1 other identifier: 5249
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Down Syndrome

Keywords

Down syndrome

Study Arms (1)

Trisomy 21 (Down syndrome)

Trisomy 21 (Down syndrome)

Genetic: karyotype

Interventions

karyotype GENETIC

Trisomy 21 (Down syndrome)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• children
• pregnancy

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

Related Publications (2)

• 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.

  PMID: 32457756 DERIVED

• 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.

  PMID: 30634988 DERIVED

MeSH Terms

Conditions

Down Syndrome

Interventions

Karyotype

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Chromosomes; Genetic Structures; Genetic Phenomena

Study Officials

• ALEMBIK Yves, MD

  Hôpitaux Universitaires de Strasbourg

  PRINCIPAL INVESTIGATOR

Central Study Contacts

ALEMBIK Yves, MD

CONTACT

33.3.88.12.50.89; yves.alembik@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 8, 2012
• First Posted: August 13, 2012
• Study Start: November 1, 2014
• Primary Completion: October 1, 2019
• Study Completion: October 1, 2019
• Last Updated: June 21, 2019

Record last verified: 2019-06

Locations

FR (1)