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1.
J Appl Res Intellect Disabil ; 37(2): e13187, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38369309

RESUMO

OBJECTIVES: Characterise the circumstances associated with death during admission of adults with Down syndrome (DS) and to identify predictors of mortality. PATIENTS AND METHODS: Observational study based on data on all emergent admissions of adults with DS to hospitals of the Spanish National Health System between 1997 and 2014. We analysed epidemiological and clinical variables. RESULTS: We analysed admissions of 11,594 adults with DS, mean age 47 years. 1715 patients died (15%), being the highest mortality (35%) in individuals aged 50-59. A past medical history of cerebrovascular disease (aOR 2.95 [2.30-3.77]) or cancer (aOR 2.79 [2.07-3.75]), gross aspiration's admission (aOR 2.59 [2.20-3.04]), immobility (aOR 2.31 [1.46-3-62]), and readmission within 30 days (aOR 2.43 [2.06-2.86]) were identified as predictors of mortality. CONCLUSIONS: Adults with DS have a high in-hospital mortality rate. The main predictors of death were cerebrovascular disease, cancer, early readmission, and conditions commonly associated with advanced dementia.


Assuntos
Transtornos Cerebrovasculares , Síndrome de Down , Deficiência Intelectual , Neoplasias , Adulto , Humanos , Pessoa de Meia-Idade , Síndrome de Down/epidemiologia , Hospitalização , Transtornos Cerebrovasculares/epidemiologia , Estudos Retrospectivos , Mortalidade Hospitalar
2.
Ann Clin Transl Neurol ; 11(1): 143-155, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38158639

RESUMO

OBJECTIVE: Alzheimer's disease (AD) is a major health concern for aging adults with Down syndrome (DS), but conventional diagnostic techniques are less reliable in those with severe baseline disability. Likewise, acquisition of magnetic resonance imaging to evaluate cerebral atrophy is not straightforward, as prolonged scanning times are less tolerated in this population. Computed tomography (CT) scans can be obtained faster, but poor contrast resolution limits its function for morphometric analysis. We implemented an automated analysis of CT scans to characterize differences across dementia stages in a cross-sectional study of an adult DS cohort. METHODS: CT scans of 98 individuals were analyzed using an automatic algorithm. Voxel-based correlations with clinical dementia stages and AD plasma biomarkers (phosphorylated tau-181 and neurofilament light chain) were identified, and their dysconnectomic patterns delineated. RESULTS: Dementia severity was negatively correlated with gray (GM) and white matter (WM) volumes in temporal lobe regions, including parahippocampal gyri. Dysconnectome analysis revealed an association between WM loss and temporal lobe GM volume reduction. AD biomarkers were negatively associated with GM volume in hippocampal and cingulate gyri. INTERPRETATION: Our automated algorithm and novel dysconnectomic analysis of CT scans successfully described brain morphometric differences related to AD in adults with DS, providing a new avenue for neuroimaging analysis in populations for whom magnetic resonance imaging is difficult to obtain.


Assuntos
Doença de Alzheimer , Síndrome de Down , Adulto , Humanos , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/patologia , Estudos Transversais , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/patologia , Imageamento por Ressonância Magnética/métodos , Biomarcadores
3.
J Appl Res Intellect Disabil ; 36(1): 143-152, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36308056

RESUMO

OBJECTIVES: To describe the clinical and epidemiological characteristics of adult patients with Down syndrome admitted to Spanish hospitals between 1997 and 2014. Secondary goals were to study trend changes over time, and to analyse differences between patients admitted to medical and surgical departments. PATIENTS AND METHODS: Retrospective observational study on data collected from the Minimum Basic Dataset (MBDS, Conjunto Mínimo Básico de Datos [CMBD]) of admissions of adults with Down syndrome to hospitals belonging to the Spanish National Health System from 1 January 1997 through 31 December 2014. We analysed epidemiological and clinical variables. RESULTS: We analysed 28,716 admissions of 16,874 adult patients with Down syndrome. Men accounted for 58.2% of the sample, and the mean age on admission was 41 ± 13 years, with an 11-year increase in mean age during the study period. Admissions among persons with Down syndrome increased by 5% during the study period, with a noticeable rise in admissions of older adults and to medical departments. Almost one-third of patients (31.8%) were admitted more than once. Age-adjusted mortality was 15.7%. The most common comorbid conditions were chronic obstructive pulmonary disease (25%), hypothyroidism (18.6%), and epilepsy (14.3%). The departments with the highest numbers of admissions were internal medicine (26.3%), pulmonary medicine (6.9%), and general surgery (5.25%). CONCLUSION: Hospital admissions among Spanish adults with Down syndrome have increased in recent decades, especially in older patients. We identified substantial differences between patients admitted to medical and surgical departments.


Assuntos
Síndrome de Down , Deficiência Intelectual , Masculino , Humanos , Idoso , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Síndrome de Down/epidemiologia , Deficiência Intelectual/epidemiologia , Hospitalização , Hospitais , Espanha/epidemiologia
4.
Clin Infect Dis ; 76(3): e155-e162, 2023 02 08.
Artigo em Inglês | MEDLINE | ID: mdl-35869848

RESUMO

BACKGROUND: Immune dysregulation in individuals with Down syndrome (DS) leads to an increased risk for hospitalization and death due to coronavirus disease 2019 (COVID-19) and may impair the generation of protective immunity after vaccine administration. METHODS: The cellular and humoral responses of 55 individuals with DS who received a complete SARS-CoV-2 vaccination regime at 1 to 3 (visit [V 1]) and 6 (V2) months were characterized. RESULTS: SARS-CoV-2-reactive CD4+ and CD8+ T lymphocytes with a predominant Th1 phenotype were observed at V1 and increased at V2. Likewise, an increase in SARS-CoV-2-specific circulating Tfh (cTfh) cells and CD8+ CXCR5+ PD-1hi lymphocytes was already observed at V1 after vaccine administration. Specific immunoglobulin G (IgG) antibodies against SARS-CoV-2 S protein were detected in 96% and 98% of subjects at V1 and V2, respectively, although IgG titers decreased significantly between both time points. CONCLUSIONS: Our findings show that DS individuals develop an effective immune response to usual regimes of SARS-CoV-2 vaccination.


Assuntos
Antígenos de Grupos Sanguíneos , COVID-19 , Síndrome de Down , Síndrome de Quebra de Nijmegen , Humanos , Anticorpos Antivirais , COVID-19/prevenção & controle , Vacinas contra COVID-19 , Imunidade , Imunoglobulina G , SARS-CoV-2 , Vacinação , Adulto
5.
Sci Rep ; 12(1): 22461, 2022 12 28.
Artigo em Inglês | MEDLINE | ID: mdl-36577781

RESUMO

To describe congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome (DS), which could inform potential health recommendations for this population. Cross-sectional, observational study of adults with DS evaluated consecutively at a tertiary care, outpatient center between January 1 and December 31, 2019. The study population comprised 937 patients (51.8% men; median [IQR] age, 42 [18] years). An echocardiogram was available in the clinical chart of 420 patients (44.8%). The diagnosis of any form of heart disease was confirmed in 211 patients (22.5%): 101 (10.8%) had congenital heart defects, 80 (8.5%) simultaneous congenital and valvular heart diseases, and 30 (3.2%) isolated valvular heart disease. 111 patients (52.6% of those with congenital or valvular heart disease) had received corrective cardiac surgery. A total of 65 individuals were receiving medical management alone (30.8%), while 35 did not require any treatment because their cardiac disease was mild (16.6%). We found a high overall prevalence of heart disease in patients with DS, higher than previously reported for the pediatric population. Management of cardiovascular disease in adults with DS differs from that of the general population and should include universal echocardiography-based screening.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Síndrome de Down , Cardiopatias Congênitas , Doenças das Valvas Cardíacas , Masculino , Humanos , Criança , Adulto , Feminino , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Estudos Transversais , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Doenças das Valvas Cardíacas/complicações
6.
Front Aging Neurosci ; 14: 988540, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36337705

RESUMO

Background: Down syndrome (DS) is considered the most frequent cause of early-onset Alzheimer's disease (AD), and the typical pathophysiological signs are present in almost all individuals with DS by the age of 40. Despite of this evidence, the investigation on the pre-dementia stages in DS is scarce. In the present study we analyzed the complexity of brain oscillatory patterns and neuropsychological performance for the characterization of mild cognitive impairment (MCI) in DS. Materials and methods: Lempel-Ziv complexity (LZC) values from resting-state magnetoencephalography recordings and the neuropsychological performance in 28 patients with DS [control DS group (CN-DS) (n = 14), MCI group (MCI-DS) (n = 14)] and 14 individuals with typical neurodevelopment (CN-no-DS) were analyzed. Results: Lempel-Ziv complexity was lowest in the frontal region within the MCI-DS group, while the CN-DS group showed reduced values in parietal areas when compared with the CN-no-DS group. Also, the CN-no-DS group exhibited the expected pattern of significant increase of LZC as a function of age, while MCI-DS cases showed a decrease. The combination of reduced LZC values and a divergent trajectory of complexity evolution with age, allowed the discrimination of CN-DS vs. MCI-DS patients with a 92.9% of sensitivity and 85.7% of specificity. Finally, a pattern of mnestic and praxic impairment was significantly associated in MCI-DS cases with the significant reduction of LZC values in frontal and parietal regions (p = 0.01). Conclusion: Brain signal complexity measured with LZC is reduced in DS and its development with age is also disrupted. The combination of both features might assist in the detection of MCI within this population.

7.
J Appl Res Intellect Disabil ; 35(2): 495-505, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34693611

RESUMO

BACKGROUND: Despite presenting higher risk of dementia, mild cognitive impairment (MCI) is not well defined in Down syndrome population. OBJECTIVE: We aimed to describe cognitive and neuropsychological patterns associated with MCI in Down syndrome individuals. METHOD: Two groups of adults with Down syndrome (control and prodromal) were studied throughout 3 years. Two linear mixed models and a model including the variables that best predicted group membership were built. RESULTS: Behavioural Regulation Index (BRI) (Behaviour Rating Inventory of Executive Function test) and the model composed of BRI, abstraction and delayed verbal memory were the variable and model best predicting group membership, respectively. CONCLUSION: Suggest a diagnosis of MCI when BRI is the earliest change perceived by caregivers and this is combined with low scores in abstract thinking, and when an amnesic pattern in delayed verbal memory is observed, but adaptive skills are preserved.


Assuntos
Disfunção Cognitiva , Síndrome de Down , Deficiência Intelectual , Adulto , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/epidemiologia , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Função Executiva/fisiologia , Humanos , Deficiência Intelectual/complicações , Testes Neuropsicológicos
8.
J Clin Med ; 10(16)2021 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-34442043

RESUMO

Whether the increased risk for coronavirus disease 2019 (COVID-19) hospitalization and death observed in Down syndrome (DS) are disease specific or also occur in individuals with DS and non-COVID-19 pneumonias is unknown. This retrospective cohort study compared COVID-19 cases in persons with DS hospitalized in Spain reported to the Trisomy 21 Research Society COVID-19 survey (n = 86) with admissions for non-COVID-19 pneumonias from a retrospective clinical database of the Spanish Ministry of Health (n = 2832 patients). In-hospital mortality rates were significantly higher for COVID-19 patients (26.7% vs. 9.4%), especially among individuals over 40 and patients with obesity, dementia, and/or epilepsy. The mean length of stay of deceased patients with COVID-19 was significantly shorter than in those with non-COVID-19 pneumonias. The rate of admission to an ICU in patients with DS and COVID-19 (4.3%) was significantly lower than that reported for the general population with COVID-19. Our findings confirm that acute SARS-CoV-2 infection leads to higher mortality than non-COVID-19 pneumonias in individuals with DS, especially among adults over 40 and those with specific comorbidities. However, differences in access to respiratory support might also account for some of the heightened mortality of individuals with DS with COVID-19.

9.
J Clin Densitom ; 24(4): 630-637, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33618949

RESUMO

Adults with Down syndrome (DS) have lower bone mineral density (BMD) than the general population. The objective of our study was to describe bone mineral status in DS population through volumetric BMD (vBMD) and trabecular bone score (TBS). Retrospective study of 297 subjects recruited from the Adult DS Outpatient Clinic of a tertiary care hospital in Spain, who underwent a bone densitometry for clinical purposes between January 2010 and June 2015. vBMD determination and TBS analysis on conventional DXA (Hologic QDR 4500) densitometer were performed in this cohort. The mean (±SD) age of our population was 34.3 (±10.9) years; 51% were women. Trabecular vBMD at total hip and femoral neck was lower in males than in females (191.7 ± 48.4 mg/cm3 vs 206.9 ± 46.7 mg/cm3, p = 0.007, and 250.5 ± 70.1 mg/cm3 vs 275.7 ± 66.2 mg/cm3, p = 0.002, respectively). Trabecular and cortical vBMD decreased with age, but age decline in trabecular vBMD was more pronounced in males. Likewise, lumbar TBS declined with age being normal in 63%, low in 29% and very low in 8% of subjects with DS, without differences between sexes. TBS showed a positive correlation (r = 0.37; p < 0.001, Kappa index= 0.275) with conventional DXA lumbar Z-score. vBMD at the hip showed lower values in DS subjects than in the general population, especially in males. Moreover, TBS was also lower at lumbar spine. Therefore, both assessments could be used as complementary tools to areal BMD (Z-score) to assess bone status in DS subjects.


Assuntos
Densidade Óssea , Síndrome de Down , Absorciometria de Fóton , Adulto , Osso Esponjoso/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Feminino , Colo do Fêmur/diagnóstico por imagem , Humanos , Vértebras Lombares/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
10.
Am J Med Genet A ; 182(12): 2832-2840, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32909685

RESUMO

Patients with Down syndrome (DS) often have a high occurrence of obstructive sleep apnea-hypopnea (OSA) syndrome. We studied a large cohort of adults with DS attended due to clinical suspicion of OSA. A standardized questionnaire and full medical assessment were conducted, including a sleep study. One hundred and fifty-seven DS individuals were studied, with a mean ± SD age of 36 ± 10 years, 40.7% women, BMI 29.4 ± 5.6 kg/m2 . The main clinical symptom was daytime sleepiness (64.9%). A sleep study was conducted in 114 patients. All 114 DS patients were diagnosed with OSA, with a predominance of obstructive and hypopnea events, (apnea-hypopnoea index, AHI, 35.0 ± 26.6), with an oxygen desaturation index of 32.9, and a Tc90% of 24.7%. Continuous positive airway pressure (CPAP) treatment was implemented in 75 (65.8%) of subjects. Tolerance was considered good in 75% of them, with a high compliance of 79.2% >4 hr/day (mean 7.1 hr/day), resulting in a symptomatic improvement in 58.7% of them. Obstructive sleep apnea is frequently confirmed in patients with DS when it clinically suspected. Treatment with CPAP in DS is feasible, and with higher adherence than in adults with normal cognitive functioning.


Assuntos
Síndrome de Down/complicações , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono/patologia , Adulto , Estudos de Coortes , Pressão Positiva Contínua nas Vias Aéreas , Feminino , Humanos , Masculino , Prognóstico , Apneia Obstrutiva do Sono/etiologia , Inquéritos e Questionários
11.
J Clin Hypertens (Greenwich) ; 22(7): 1127-1133, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32644285

RESUMO

The paradigmatic relationship between aging and atherosclerotic cardiovascular events does not apply to all patient populations. Though trisomy 21 (T21) and its phenotypic expression, Down syndrome (DS), are conditions that involve premature aging, the cardiovascular system of adults with DS appears to be particularly spared from this early senescence. Despite a higher prevalence of some classic cardiovascular risk factors in adults with DS than in the general population, such as dyslipidemia, obesity, or sedentarism, these individuals do not develop hypertension or suffer major cardiovascular events as they age. The protective factors that prevent the development of hypertension in T21 are not well established. Genes like RCAN1 and DYRK1A, both on chromosome 21 and over-expressed in adults with DS, appear to play a major role in cardiovascular prevention. Their regulation of the renin-angiotensin-aldosterone system (RAAS) and neprilysin synthesis could underlie the constitutive protection against arterial hypertension in adults with DS and explain the absence of increased arterial stiffness in this population. A better understanding of these molecular pathways could have enormous implications for the clinical management of adults with DS and might foster the development of novel therapeutic targets in cardiovascular prevention for the general population.


Assuntos
Síndrome de Down , Hipertensão , Adulto , Envelhecimento , Proteínas de Ligação a DNA , Síndrome de Down/complicações , Síndrome de Down/genética , Humanos , Hipertensão/epidemiologia , Proteínas Musculares , Sistema Renina-Angiotensina , Rigidez Vascular
12.
Neurobiol Aging ; 84: 70-79, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31518951

RESUMO

Down syndrome (DS) has been considered a unique model for the investigation of Alzheimer's disease (AD) but intermediate stages in the continuum are poorly defined. Considering this, we investigated the neurophysiological (i.e., magnetoencephalography [MEG]) and neuropsychological patterns of mild cognitive impairment (MCI) and AD in middle-aged adults with DS. The sample was composed of four groups: Control-DS (n = 14, mean age 44.64 ± 3.30 years), MCI-DS (n = 14, 51.64 ± 3.95 years), AD-DS (n = 13, 53.54 ± 6.58 years), and Control-no-DS (healthy controls, n = 14, 45.21 ± 4.39 years). DS individuals were studied with neuropsychological tests and MEG, whereas the Control-no-DS group completed only the MEG session. Our results showed that the AD-DS group exhibited a significantly poorer performance as compared with the Control-DS group in all tests. Furthermore, this effect was crucially evident in AD-DS individuals when compared with the MCI-DS group in verbal and working memory abilities. In the neurophysiological domain, the Control-DS group showed a widespread increase of theta activity when compared with the Control-no-DS group. With disease progression, this increased theta was substituted by an augmented delta, accompanied with a reduction of alpha activity. Such spectral pattern-specifically observed in occipital, posterior temporal, cuneus, and precuneus regions-correlated with the performance in cognitive tests. This is the first MEG study in the field incorporating both neuropsychological and neurophysiological information, and demonstrating that this combination of markers is sensitive enough to characterize different stages along the AD continuum in DS.


Assuntos
Doença de Alzheimer/fisiopatologia , Disfunção Cognitiva/fisiopatologia , Síndrome de Down/fisiopatologia , Magnetoencefalografia , Adulto , Idoso , Feminino , Humanos , Masculino
13.
Arch Bronconeumol (Engl Ed) ; 55(9): 472-477, 2019 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30914210

RESUMO

INTRODUCTION: Community-acquired pneumonia (CAP) is a common serious infection. This study aimed to evaluate the prognostic utility of neutrophil count percentage (NCP) and neutrophil-lymphocyte ratio (NLR) in patients with CAP. METHODS: Retrospective study of hospitalized patients with CAP. Patients had a blood test at admission and 3-5 days after hospitalization (early-stage test). The main outcome variables were 30-day and 90-day mortality. RESULTS: Two hundred and 9patients were included. Patients who survived had significant reductions in both NCP and NLR between admission and the day 3-5 blood tests (from 85.8% to 65.4% for NCP and from 10.1 to 3.2 for NLR). Twenty-five patients died in the first 90 days. Patients who died had lower, non-significant reductions in NCP (from 84.8% to 74%) and NLR (from 9.9 to 6.9) and significantly higher early-stage NCP and NLR than those who survived. NCP values higher than 85% and NLR values higher than 10 in the early-stage blood test were associated with a higher risk of mortality, even after multivariate adjustment (HR for NCP: 12; HR for NLR: 6.5). CONCLUSION: NCP and NLR are simple, low-cost parameters with prognostic utility, especially when measured 3-5 days after CAP diagnosis. High NLR and/or NCP levels are associated with a greater risk of mortality at 90 days.


Assuntos
Infecções Comunitárias Adquiridas/sangue , Infecções Comunitárias Adquiridas/diagnóstico , Linfócitos , Neutrófilos , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitalização , Humanos , Contagem de Leucócitos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos
15.
J Clin Densitom ; 21(4): 493-500, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29681439

RESUMO

According to reports from small-sized case series, adults with Down syndrome (DS) appear to have lower bone mineral density (BMD) than the general population. The objective of our study was to further characterize the bone mass acquisition curve in an adult DS population. This is a retrospective study of 297 adults with DS from the Adult Down Syndrome Outpatient Clinic of a tertiary care hospital in Madrid, Spain, who underwent a bone densitometry (Hologic QDR-4500W), for clinical purposes between January 2010 and June 2015. The mean age of our sample population was 34 yr (±10.9); 51% were women. Bone mass peak was reached earlier and was lower than the general population (around 20-25 yr), with almost parallel curves. The mean BMD was 0.715 ± 0.12 g/cm2 in femoral neck (FN) and 0.872 ± 0.11 g/cm2 in lumbar spine (LS). According to FN scores, 52% of the subjects were classified as osteopenic and 18% as osteoporotic. According to LS scores, frequencies were 54% and 25%, respectively. BMD was considered inadequate for the age (Z-score < -2 standard deviation) in 18% of the subjects at FN and 40% at LS. BMD at LS was significantly lower in males than in females (52% vs 38%, p < 0.001). Male DS subjects had a 2.58-fold (95% confidence interval: 1.57-4.25) higher risk of developing reduced BMD at LS than females. Persons with DS reach the bone mass peak earlier and this bone mass is lower than the general population. Among subjects with DS, male gender is a risk factor for developing low BMD, especially at LS.


Assuntos
Densidade Óssea/fisiologia , Doenças Ósseas Metabólicas/epidemiologia , Síndrome de Down/epidemiologia , Síndrome de Down/fisiopatologia , Osteoporose/epidemiologia , Absorciometria de Fóton , Adolescente , Adulto , Distribuição por Idade , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha/epidemiologia , Adulto Jovem
16.
Intellect Dev Disabil ; 55(5): 315-324, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28972872

RESUMO

Differences in bone mineral density (BMD) have been observed between adults with Down syndrome (DS) and the general population. The purpose of this article is to describe the prevalence of bone mass disorders in a cohort of adults with DS and their predisposing factors. We performed a cross-sectional study of 104 consecutively recruited adults with DS from an outpatient clinic of a tertiary care hospital in Madrid, Spain. We recorded epidemiological and anthropometric data, nutritional variables, coexisting clinical conditions, and laboratory variables. BMD was measured at the lumbar spine, total hip, and femoral neck using dual-energy X-ray absorptiometry. The prevalence of osteopenia ranged from 48% to 52%, and that of osteoporosis ranged from 19% to 22% depending on the site of measurement (femoral neck or lumbar spine, respectively). Age was the greatest risk factor associated for lower BMD, with similar bone mass accrual curve but with lower peak of BMD than the general population. We conclude that low bone mass is an extremely prevalent condition in adult patients with DS.


Assuntos
Densidade Óssea/fisiologia , Doenças Ósseas Metabólicas/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Colo do Fêmur/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Osteoporose/diagnóstico por imagem , Absorciometria de Fóton , Fatores Etários , Anticorpos Monoclonais Humanizados , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/fisiopatologia , Estudos Transversais , Síndrome de Down/fisiopatologia , Feminino , Colo do Fêmur/fisiopatologia , Humanos , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Osteoporose/epidemiologia , Osteoporose/fisiopatologia , Prevalência , Adulto Jovem
17.
J Clin Hypertens (Greenwich) ; 19(2): 205-211, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27495829

RESUMO

The authors aimed to compare surrogate markers of atherosclerosis (pulse wave velocity, intima-media thickness) between adults with and without Down syndrome (DS) and to assess the impact of parathyroid hormone levels and classic cardiovascular risk factors on arterial stiffness. After comparing 51 adults with DS and 51 healthy adults (siblings of DS individuals), the authors found that adults with DS seem to have lower arterial stiffness, as a result of chronic hypotension. Subclinical atherosclerosis parameters do not correlate with traditional cardiovascular risk factors in adults with DS, thus raising the hypothesis that classic predictive models for cardiovascular disease are not valid in this population. Hyperparathyroidism could play an important role in arterial damage in these individuals. The lower than expected prevalence of obesity and dyslipidemia could be explained by better eating habits, with this study being the first to address the anthropometric and clinical profile of a Mediterranean cohort of adults with DS.


Assuntos
Aterosclerose/diagnóstico , Síndrome de Down/complicações , Adulto , Espessura Intima-Media Carotídea , Estudos de Casos e Controles , Estudos Transversais , Síndrome de Down/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Onda de Pulso , Adulto Jovem
18.
Eur J Intern Med ; 26(6): 385-91, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26025226

RESUMO

BACKGROUND: The life expectancy of adults with Down syndrome (DS) has significantly increased in the last decades. We aim to describe the main demographic and clinical characteristics of a cohort of adults with DS, and analyse their differences according to age and gender groups. METHODS: Cross-sectional study of 144 adults with DS from the outpatient clinic of a tertiary care hospital in Madrid, Spain, recruited between February 2012 and March 2013. Demographic data (age, gender, living situation, caregivers, and working situation), clinical conditions, prior medications, and laboratory data were measured and compared between groups. RESULTS: Adults with DS were 35±12 years old (range 17-65), and 51% were males. Most subjects lived with their families (112, 78%), and parents were the main caregivers in 73% of cases. However, older adults with DS lived more frequently in residential facilities. Each subject presented an average of 5±2 clinical problems. Eye (117 adults, 81%), skin (86, 60%), thyroid (81, 56%), gastrointestinal (73, 51%), and psychopathological disorders (58, 40%) were amongst the most frequent clinical conditions of adults with DS. Cataracts (14, 61%), keratoconus (4, 17%), dementia (11, 48%), and seizures (6, 26%) were more frequent amongst individuals with DS over 50 years (p<0.001 for the comparisons). No relevant differences were found between genders. The medications most frequently prescribed were levothyroxine (70 subjects, 48.6%), vitamin D (50, 34.7%), antidepressants (32, 22%), and antipsychotics (31, 21.5%). CONCLUSIONS: Adults with DS present a wide spectrum of potentially treatable medical conditions, making specially-trained multidisciplinary teams a dire need for this population.


Assuntos
Síndrome de Down/complicações , Adolescente , Adulto , Fatores Etários , Idoso , Comorbidade , Síndrome de Down/epidemiologia , Síndrome de Down/patologia , Oftalmopatias/epidemiologia , Feminino , Gastroenteropatias/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Dermatopatias/epidemiologia , Espanha/epidemiologia , Doenças da Glândula Tireoide/epidemiologia , Adulto Jovem
19.
Diabetes Metab J ; 38(6): 464-71, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25541610

RESUMO

BACKGROUND: Despite the confluence of multiple cardiovascular risk factors, subclinical atherosclerotic damage and cardiovascular events remain extremely rare in adults with Down syndrome (DS). We aim to determine the prevalence of obesity and metabolic disorders in an adult cohort with DS and to compare our findings with adults without DS. METHODS: Cross-sectional study of 51 consecutively selected adults with DS living in the community and 51 healthy controls in an outpatient clinic of a tertiary care hospital in Madrid, Spain. Epidemiological data (age and gender), anthropometric data (body mass index and waist-to-height ratio), coexisting clinical conditions, and laboratory data (fasting glucose, insulin, glycated hemoglobin, creatinine, thyroid hormones, vitamins, and lipid profile) were measured and compared between the groups. RESULTS: Adults with DS were significantly younger and more often men with a higher prevalence of overweight and obesity than controls. Their waist-to-height ratio was higher, and they more frequently had abdominal obesity. The results of an analysis adjusted for age and gender revealed no differences in fasting insulin levels, homeostatic model assessment indexes, or lipid profile between adults with DS and controls. CONCLUSION: Adults with DS presented a high prevalence of overweight and obesity. However, we found no differences in lipid profile, prevalence of insulin resistance, or metabolic syndrome between adults with DS and controls.

20.
Res Dev Disabil ; 35(11): 2942-9, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25108610

RESUMO

We aimed to describe anthropometric differences in weight-related disorders between adults with Down syndrome (DS) and healthy controls, as well as their disparate impact on glucose and lipid metabolism disorders. We underwent a cross-sectional study of 49 consecutively selected, community-residing adults with DS and 49 healthy controls in an outpatient clinic of a tertiary care hospital in Madrid, Spain. Siblings of adults with DS were studied as controls in 42 cases. Epidemiological data (age and gender), anthropometric data (body mass index, waist circumference, and waist-to-height ratio [WHR]), coexisting clinical conditions, and laboratory data (fasting glucose, insulin, glycated hemoglobin, creatinine, thyroid hormones, and lipid profile) were measured and compared between the groups. Adults with DS were significantly younger and more often male, with a higher prevalence of overweight and obesity than controls. Adults with DS also had a higher WHR, and more frequently presented abdominal obesity. Moreover, insulin resistance measured using the homeostatic model assessment was more prevalent among adults with DS and abdominal obesity. However, lipid profiles were similar between groups. The kappa correlation index for the diagnosis of abdominal obesity between waist circumference and WHR was 0.24 (95%CI: 0.13-0.34). We concluded that the prevalence of overweight, obesity, and abdominal obesity was higher in adults with DS than in controls. Adults with DS and abdominal obesity showed higher indexes of insulin resistance than their non-obese peers. WHR was a useful tool for the evaluation of abdominal obesity in this population.


Assuntos
Diabetes Mellitus/epidemiologia , Síndrome de Down/epidemiologia , Dislipidemias/epidemiologia , Síndrome Metabólica/epidemiologia , Obesidade Abdominal/epidemiologia , Adulto , Glicemia/metabolismo , Índice de Massa Corporal , Estudos Transversais , Diabetes Mellitus/metabolismo , Dislipidemias/metabolismo , Feminino , Humanos , Resistência à Insulina , Masculino , Síndrome Metabólica/metabolismo , Pessoa de Meia-Idade , Obesidade Abdominal/metabolismo , Circunferência da Cintura , Razão Cintura-Estatura
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