Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center

Aurélien Guffroy, Yannick Dieudonné, Beatrice Uring-Lambert, Joelle Goetz, Yves Alembik, Anne-Sophie Korganow, Aurélien Guffroy, Yannick Dieudonné, Beatrice Uring-Lambert, Joelle Goetz, Yves Alembik, Anne-Sophie Korganow

Abstract

Background: Down syndrome (DS) is the most common form of viable chromosomal abnormality. DS is associated with recurrent infections, auto-immunity and malignancies in children. Little is known about immunity and infections in DS at adulthood.

Methods: We studied two separate group of adults (> 18 years old) with DS in a single referral tertiary center (Strasbourg University Hospital). The first group included 37 ambulatory DS patients between November 2014 and May 2017. We analyzed exhaustive serological and immunobiological parameters, at one point, together with the prevalence of infections, autoimmune manifestations and malignancies. The second group included 64 hospitalized patients (138 stays) in the same center, between January 2005 and December 2016.

Results: One hundred and one adult patients with DS were included. Unlike children and despite a global lymphopenia, adults with DS underwent few infections in our ambulatory group. They did not experience any malignancy and, apart from hypothyroidism, they presented only occasional autoimmune manifestations. Hospitalized DS patients were older than ambulatory ones (median age 47 years (18-73) vs. 27 (18-52), p < 0.0001) and admitted mostly for infections (76.8%). Infections were associated with epilepsy and dementia (OR 6.5 (2.2-19), p = 0.001; p = 0.0006 in multivariate analysis) and higher mortality (OR 7.4 (1.4-37), p = 0.01).

Conclusion: Despite persistent immunobiological abnormalities at adulthood, young ambulatory adults with DS remain healthy with a low rate of infections. Infections are associated with neurological degeneration and increase the mortality arguing for a dedicated support of older DS patients.

Trial registration: ClinicalTrials.gov: NCT01663675 (August 13, 2012). Hospital Clinical Research Program (PHRC): number 2012-A00466-37 (Dr Y. Alembik).

Keywords: Adult; Down syndrome; Immunodeficiency; Infectious risk; Neurological impairment.

Conflict of interest statement

Ethics approval and consent to participate

Ambulatory patients involved in PHRC T21 “Trisomy 21 in Adulthood”: (Dr Alembik Yves): All subjects were recruited under a protocol approved by ethical board CPP-Est IV N°12/47 (research ethical board of Strasbourg University Hospital) including a written informed consent.

Retrospective hospitalized patients: An approval statement from the local ethical committee has been obtained (ethical committee of the Faculties of Medicine and Dentistry of Strasbourg N°2018–8).

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Flow diagram of patients. *Within 190,740 stays - **Patients were excluded for insufficient data when the cause of hospitalization was not mentioned, or when clinical and biological data were unavailable
Fig. 2
Fig. 2
Time to second infectious event within the DS hospitalised group. The median duration of second infectious event-free survival was 6.9 months within the group with neurological disease, as compared with a median over the last follow up (105 months) in the group with no neurological disease. Hazard ratio 0.05 (p = 0.002)

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