Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome

Oreskovic, Nicolas M.; Baumer, Nicole; Camillo, Chiara Di; Cornachia, Michelle; Franklin, Catherine; Hart, Sarah J.; Kishnani, Priya S.; McCormick, Andrew; Milliken, Anna; Pawlowski, Katherine; Santoro, Stephanie L.; Sargado, Sabrina; Scoppola, Vittorio; Torres, Amy; Valentini, Diletta; Vellody, Kishore; Villani, Alberto; Skotko, Brian G.

doi:10.1002/ajmg.a.63088

Cited by 11 publications

(6 citation statements)

References 27 publications

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“…Various clinical factors may account for the observed differences in 25(OH)D levels within our cohort with DS. Higher BMI is more common in individuals with DS [ 46 , 47 ], as was found in our study and was associated with lower levels of 25(OH)D among individuals with DS. Higher BMI is associated with increased body fat, which can also sequester vitamin D, which may provide an explanation for this finding [ 48 , 49 ].…”

Section: Discussionsupporting

confidence: 84%

Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder

Boyd,

Nguyen,

Khoshnood

et al. 2023

J Neurodevelop Disord

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Background Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls. Methods A retrospective, multi-center review was performed. The three sites were located at latitudes of 42.361145, 37.44466, and 34.05349. Patients were identified by the International Classification of Diseases (ICD)-9 or ICD-10 codes for DS, ASD, or well-child check visits for NT individuals. The first vitamin D 25-OH level recorded in the electronic medical record (EMR) was used in this study as it was felt to be the most reflective of a natural and non-supplemented state. Vitamin D 25-OH levels below 30 ng/mL were considered deficient. Results In total, 1624 individuals with DS, 5208 with ASD, and 30,775 NT controls were identified. Individuals with DS had the lowest mean level of vitamin D 25-OH at 20.67 ng/mL, compared to those with ASD (23.48 ng/mL) and NT controls (29.20 ng/mL) (p < 0.001, 95% CI: −8.97 to −6.44). A total of 399 (24.6%) individuals with DS were considered vitamin D deficient compared to 1472 (28.3%) with ASD and 12,397 (40.3%) NT controls (p < 0.001, 95% CI: −5.43 to −2.36). Individuals with DS with higher body mass index (BMI) were found to be more likely to have lower levels of vitamin D (p < 0.001, 95% CI: −0.3849 to −0.1509). Additionally, having both DS and a neurologic diagnosis increased the likelihood of having lower vitamin D levels (p < 0.001, 95% CI: −5.02 to −1.28). Individuals with DS and autoimmune disease were much more likely to have lower vitamin D levels (p < 0.001, 95% CI: −6.22 to −1.55). Similarly, a history of autoimmunity in a first-degree relative also increased the likelihood of having lower levels of vitamin D in persons with DS (p = 0.01, 95% CI: −2.45 to −0.63). Conclusions Individuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS.

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Section: Discussionsupporting

confidence: 84%

Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder

Boyd,

Nguyen,

Khoshnood

et al. 2023

J Neurodevelop Disord

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“…The prevalence of being overweight and/or obese among adults with DS ranges from 23% to 70% 19 . Other studies showed an obesity prevalence rate of 49% among DS youth, compared with 39% in the general youth population, and in a multicenter study, 94% of adults were found to have obesity 20,21 . Risk factors for obesity in this population include hypothyroidism, hypotonia, a lower resting metabolic rate, poor dietary habits, and insufficient physical activity 22 .…”

Section: Common Problems Encountered In Adults With Dsmentioning

confidence: 91%

“…19 Other studies showed an obesity prevalence rate of 49% among DS youth, compared with 39% in the general youth population, and in a multicenter study, 94% of adults were found to have obesity. 20,21 Risk factors for obesity in this population include hypothyroidism, hypotonia, a lower resting metabolic rate, poor dietary habits, and insufficient physical activity. 22 The current screening recommendations to address obesity in adults with DS entail an annual evaluation of body mass index at the primary care setting.…”

Section: Obesitymentioning

confidence: 99%

Comprehensive Care for Adults with Down Syndrome in Primary Care Settings

Tishad,

Vadakal,

Talati

et al. 2024

Southern Medical Journal

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“…Their genetic profile may also impact the deleterious interactions of some of the traditional risk factors, as demonstrated by a recent study that reported that being overweight/obese did not correlate with worse cardiovascular biomarkers in individuals with DS (Oreskovic et al . 2022).…”

Section: Introductionmentioning

confidence: 99%

Measurement protocols and determinants of peak oxygen consumption in adults with Down syndrome: a systematic review

Hilgenkamp,

Beck,

Azar

et al. 2024

J intellect Disabil Res

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This systematic review aimed to provide an overview of test protocols used to measure peak oxygen uptake (VO2peak) in adults with Down syndrome (DS) and to determine how generalisable the outcomes are for the entire population of adults with DS by describing the sample characteristics of these studies and their impact on VO2peak. A literature search (PROSPERO CRD42022309560) was performed (18 July 2023) using the following databases: PubMed, CINAHL, APA PsycINFO, Web of Science, Embase and SPORTDiscus. For articles to be included, they had to be peer‐reviewed pubications, reporting VO2peak or VO2max for individuals with DS separately, with a sample of n ≥ 5 and a mean age ≥18 years. Systematic reviews and meta‐analyses were excluded but their reference lists were searched for additional papers to include. Studies were evaluated for risk of bias following the guidelines of Kmet et al. The results were summarised with frequency statistics. Forty‐three studies were included in this systematic review. Sample sizes of included adults with DS ranged from n = 4–226, with a total of n = 1498 adults with DS being included. Most studies (29/43) used the same standardised maximal exercise treadmill protocol to measure VO2peak in adults with DS, and 33 out of 43 studies used at least one objective criterion to determine a valid maximal effort. Participants were predominantly male, under 40 years old, and overweight or obese. Additionally, the diversity of study samples was lacking or not reported. The most widely used, standardised, maximal exercise test treadmill protocol is recommended for future use in research and practice, including objective criteria to determine valid maximal effort. The current study samples are not representative of the population of adults with DS in terms of sex, age and diverse backgrounds and therefore likely overestimate VO2peak of this population.

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Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome

Cited by 11 publications

References 27 publications

Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder

Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder

Comprehensive Care for Adults with Down Syndrome in Primary Care Settings

Measurement protocols and determinants of peak oxygen consumption in adults with Down syndrome: a systematic review

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