Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records

Baksh, R. Asaad; Pape, Sarah E; Chan, Li F.; Aslam, Aisha; Gulliford, Martin; Strydom, André

doi:10.1016/s2468-2667(23)00057-9

Cited by 25 publications

(12 citation statements)

References 29 publications

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“…Other studies have similarly demonstrated lower rates of hypertension and ischemic heart disease in the T21 population when compared to the general population, despite the increases in cardiovascular risk factors such as obesity and hypertriglyceridemia 20,21 . A recent cohort study from the United Kingdom demonstrated a decreased risk for hypertension, ischemic heart disease, and hypercholesterolemia in the T21 population when compared to both the general population and a population of other intellectual disabilities 22 . Though the protective mechanism through which this effect occurs remains unclear, it is thought that a combination of genetic effects and decreased autonomic tone contributes to the reduction in risk for atherosclerotic heart disease and hypertension in the T21 population 20,23 .…”

Section: Discussionmentioning

confidence: 93%

“…20,21 A recent cohort study from the United Kingdom demonstrated a decreased risk for hypertension, ischemic heart disease, and hypercholesterolemia in the T21 population when compared to both the general population and a population of other intellectual disabilities. 22 Though the protective mechanism through which this effect occurs remains unclear, it is thought that a combination of genetic effects and decreased autonomic tone contributes to the reduction in risk for atherosclerotic heart disease and hypertension in the T21 population. 20,23 However, it is possible that the decreased rates of these cardiovascular risk factors could also be due in part to anticipation and aggressive management of these comorbidities in this population.…”

Section: Discussionmentioning

confidence: 99%

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Long‐Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea

Shankar,

Moroco,

Elliott

et al. 2023

Otolaryngol.--head neck surg.

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ObjectiveTo better understand the long‐term health implications of obstructive sleep apnea (OSA) on patients with Trisomy 21 (T21) and the role of sleep surgery as a therapeutic intervention.Study DesignRetrospective large database review.SettingThe prevalence of OSA is as high as 75% in patients with T21. We sought to examine the cardiovascular, neurological, and endocrinological outcomes of patients with T21 10 years after their diagnosis of OSA.MethodsTriNetX, an electronic medical record database, was queried for health outcomes in patients with T21 after diagnosis of OSA. The group was further analyzed to identify those who underwent sleep surgery, including hypoglossal nerve stimulation, palatopharyngoplasty, or adenotonsillectomy.ResultsTen years after diagnosis, patients with OSA and T21 had a significantly higher incidence of death, myocardial infarction, cerebral infarction, heart failure, cardiac arrhythmia, ischemic heart disease, atrial fibrillation, essential hypertension, pulmonary hypertension, diabetes mellitus, and Alzheimer's disease compared to patients with T21 alone. Patients with OSA and T21 who underwent sleep surgery had significantly reduced incidence of adverse health outcomes compared to patients using continuous positive airway pressure.ConclusionOur findings suggest that patients with T21 and OSA are at higher risk of poor health outcomes, which may require closer monitoring for earlier diagnosis and management of comorbid conditions. Sleep surgery is a suitable treatment modality for mitigating the risk of adverse outcomes in this population and should be considered in patients who are eligible surgical candidates.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Long‐Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea

Shankar,

Moroco,

Elliott

et al. 2023

Otolaryngol.--head neck surg.

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“… 12 Distinct patterns of age‐related co‐occurring conditions differ from both the general population and people with intellectual disability with other etiologies than DS. 13 …”

Section: Introductionmentioning

confidence: 99%

“…12 Distinct patterns of age-related co-occurring conditions differ from both the general population and people with intellectual disability with other etiologies than DS. 13 DS is considered a form of genetically determined AD, similar to autosomal dominant forms in other populations without DS. [14][15][16][17] In addition to the high genetic risk of AD in people with DS, the increase in life expectancy over the past decades, 3 has led to an increase in age-related co-occurring conditions.…”

mentioning

confidence: 99%

Age of Alzheimer's disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium

Larsen,

Baksh,

McGlinchey

et al. 2024

Alzheimer's & Dementia

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INTRODUCTIONPeople with Down syndrome (DS) have high risk of developing Alzheimer's disease (AD). This study examined mean ages of AD diagnosis and associations with co‐occurring conditions among adults with DS from five European countries.METHODSData from 1335 people with DS from the Horizon 21 European DS Consortium were used for the analysis.RESULTSMean ages of AD diagnosis ranged between 51.4 (SD 7.0) years (United Kingdom) and 55.6 (SD 6.8) years (France). Sleep‐related and mental health problems were associated with earlier age of AD diagnosis. The higher number of co‐occurring conditions the more likely the person with DS is diagnosed with AD at an earlier age.DISCUSSIONMean age of AD diagnosis in DS was relatively consistent across countries. However, co‐occurring conditions varied and impacted on age of diagnosis, suggesting that improvements can be made in diagnosing and managing these conditions to delay onset of AD in DS.Highlights Mean age of AD diagnosis was relatively consistent between countries Sleep problems and mental health problems were associated with earlier age of AD diagnosis APOE ε4 carriers were diagnosed with AD at an earlier age compared to non‐carriers Number of co‐occurring conditions was associated with earlier age of AD diagnosis No differences between level of intellectual disability and mean age of AD diagnosis

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“…The neurodevelopmental and cognitive profiles observed in individuals with Down syndrome are characterized by significant diversity, presenting unique challenges and opportunities for diagnosis, management, and support [22]. Comorbidities associated with Down syndrome further contribute to the complexity of providing comprehensive care to this population [23][24][25]. Cognitive impairment in individuals with Down syndrome can range from mild (with an IQ between 50 and 70) to moderate (with an IQ between 35 and 50), and occasionally, it can be severe (with an IQ between 20 and 35) [26,27].…”

Section: Introductionmentioning

confidence: 99%

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

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Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases. Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. The manifestations of Down syndrome result from complex interactions between genetic factors linked to various health concerns. To explore recent advancements in Down syndrome research, we focus on the integration of artificial intelligence (AI) and machine learning (ML) technologies for improved diagnosis and management. Recent developments leverage AI and ML algorithms to detect subtle Down syndrome indicators across various data sources, including biological markers, facial traits, and medical images. These technologies offer potential enhancements in accuracy, particularly in cases complicated by cognitive impairments. Integration of AI and ML in Down syndrome diagnosis signifies a significant advancement in medical science. These tools hold promise for early detection, personalized treatment, and a deeper comprehension of the complex interplay between genetics and environmental factors. This review provides a comprehensive overview of neurodevelopmental and cognitive profiles, comorbidities, diagnosis, and management within the Down syndrome context. The utilization of AI and ML represents a transformative step toward enhancing early identification and tailored interventions for individuals with Down syndrome, ultimately improving their quality of life.

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Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records

Cited by 25 publications

References 29 publications

Long‐Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea

Long‐Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea

Age of Alzheimer's disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

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