Potential of facial biomarkers for Alzheimer's disease and obstructive sleep apnea in Down syndrome and general population
Echeverry-Quiceno, L.M. (Universitat de Barcelona)
Llambrich, S. (Universitat de Barcelona)
Heredia-Lidón, None (La Salle - Universitat Ramon Llull)
Giménez, Sandra (Institut de Recerca Sant Pau)
Aranha, Mateus (Institut de Recerca Sant Pau)
Inampudi, P. (Columbia University College of Dental Medicine)
Heuzé, Y. (Univ. Bordeaux)
Sevillano, X. (La Salle - Universitat Ramon Llull)
Fortea, Juan (Institut de Recerca Sant Pau)
Martínez-Abadías, N. (Universitat de Barcelona)
Universitat Autònoma de Barcelona

Date:	2025
Abstract:	Down syndrome (DS), caused by trisomy 21, is associated with an increased risk of Alzheimer's disease (AD) and obstructive sleep apnea (OSA). Traditional diagnostic methods for AD and OSA, like cerebrospinal fluid analysis and polysomnography, are invasive and challenging for people with DS. In this study, we assessed whether facial morphology could be used as a potential noninvasive biomarker for these conditions in both DS and the general population. We performed a comprehensive 3D analysis of facial shape variation by registering the 3D coordinates of 21 landmarks on facial models extracted from magnetic resonance images of 131 individuals with DS and 216 euploid (EU) adult controls, including AD and OSA cases. Procrustes ANOVA and MANOVA quantified shape variation by sex, age, and facial size, while geometric morphometrics assessed diagnostic group differences. Significant facial shape differences were observed between the DS and EU groups, indicating sex-dependent differences and altered age-related changes in DS, particularly in females. Facial shape correlated with the amyloid beta ratio (Aβ1-42/Aβ1-40), a key AD biomarker. In DS, facial shape differences by AD diagnosis were not significant after adjusting for age and facial size, but significant shape differences were detected in the EU population. For OSA, facial shape correlated with the apnea-hypopnea index (AHI), and DS individuals with severe OSA showed distinct facial morphology compared with those without OSA, suggesting an association between facial shape and sleep respiratory disturbances. These results highlight the potential of facial morphology as a noninvasive biomarker for AD and OSA detection and management.
Grants:	Ministerio de Economía y Competitividad PI14/01126 Instituto de Salud Carlos III PI17/01019 Instituto de Salud Carlos III PI20/00836 Agencia Estatal de Investigación PID2020-113609RB-C21 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-00706
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Dementia ; Facial development ; Facial dysmorphology ; Geometric morphometrics ; Ontogenetic trajectories ; Sexual dimorphism ; Sleep and respiratory disorders ; Trisomy 21
Published in:	FASEB Journal, Vol. 39 Núm. 6 (31 2025) , p. e70480, ISSN 1530-6860

DOI: 10.1096/fj.202403009R
PMID: 40123509

16 p, 2.2 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles