Global health measures from a <scp>N</scp>ational <scp>D</scp>own <scp>S</scp>yndrome <scp>R</scp>egistry

Santoro, Stephanie L.; Haugen, Kelsey; Donelan, Karen; Skotko, Brian G.

doi:10.1002/ajmg.a.63243

Cited by 3 publications

(3 citation statements)

References 24 publications

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“…Prior studies have shown that many items influence QoL in individuals with DS including obesity, autism, and friendships (Haddad et al, 2018; Katsiana et al, 2020; Santoro et al, 2023; Xanthopoulos et al, 2017). A prior Australian study showed QoL in individual with DS age 16–31 years was lower with an increasing burden of medical diagnoses (Haddad et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

Quality of life measures in children with Down syndrome with disorders of gut–brain interaction

Ciciora,

Manickam,

Saps

2023

American J of Med Genetics Pt C

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Down syndrome (DS) is associated with multiple medical comorbidities. Perhaps related to such, caregivers of individuals with DS report lower quality of life (QoL) compared to individuals without DS. It has been shown that disorders of gut‐brain interaction (DGBI) such as functional constipation (FC) and irritable bowel syndrome (IBS) are common in individuals with DS. We measured caregiver‐reported QoL in individuals with DS with a DGBI and compared them to individuals with DS without a DGBI via a cross‐sectional national survey. All measures of QoL were lower in those with DS who meet criteria for a DGBI compared to those with DS without a DGBI. Males and females with DS and at least one DGBI had similar QoL scores. While FC was the most common DGBI seen in individuals with DS, there was no difference in any aspect of QoL in subjects with FC when compared to individuals with other DGBIs. However, all measures of QoL were lower in those with IBS compared to individuals with other DGBIs. These findings suggest that management of gastrointestinal symptoms from DGBIs, particularly IBS, may serve as a target for increasing QoL in a notable subset of individuals with DS.

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Section: Discussionmentioning

confidence: 99%

Quality of life measures in children with Down syndrome with disorders of gut–brain interaction

Ciciora,

Manickam,

Saps

2023

American J of Med Genetics Pt C

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“…According to the WHO, physical activity is any skeletal muscle movement that requires energy expenditure and can be performed at varying intensities, whereas physical fitness is a set of attributes achieved or possessed regarding the ability to perform physical activity or exercise with certain skills that affect sports achievements, such as the ability to carry out daily activities and the learning process at school [34,35,36,37,38]. Down syndrome people have been linked to a lack of physical exercise [39], and this can have an impact on poor health conditions [40]. Inadequate physical activity is defined as failing to reach recommended levels of physical activity in children and adolescents aged 5 to 17 years (60 minutes of moderate to high-intensity physical exercise daily) [41].…”

Section: Discussionmentioning

confidence: 99%

The benefit of a four-week range of motion exercise on hand muscle strength in children with Down Syndrome

Raharjo,

Yunus,

Pelana

et al. 2023

ppcs

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Background and Study Aim. Down syndrome is linked to motor disorders, leading to reduced physical activity and fitness, including diminished aerobic endurance and muscle strength. Study Aim - to investigate the efficacy of range of motion exercises in enhancing hand muscle strength in children with Down syndrome. Material and Methods. This research employed a true experimental approach with a pre-test and post-test control group design. The study sample consisted of 18 children with Down syndrome, aged between 10 to 12 years. The selected participants underwent range of motion exercises, which were systematically conducted 3 times a week over a span of 4 weeks. To assess the efficacy of the exercises, hand muscle strength was gauged both before and after the intervention. The measurement tool utilized was a Handgrip Strength (HGS) test, executed with the aid of a Takei dynamometer, ensuring accuracy and consistency in the results. For the statistical analysis of the collected data, a paired sample t-test was employed. The threshold for statistical significance was set at a p-value of less than 0.05 or 5%. Results. The range of motion exercise, when carried out for 4 weeks, has been shown to increase hand muscle strength in children with Down syndrome. Based on the results of statistical analysis of hand muscle strength pretest and posttest in the control group (CtrG) (6.06 ± 2.11 vs. 6.13 ± 2.23 kg, p ≥ 0.05), and the experimental group (ExpG) (6.10 ± 2.68 vs. 8.95 ± 2.69 kg, p ≤ 0.001). Conclusions. These exercises play a pivotal role in boosting muscle strength in children with Down syndrome. Emphasizing their physical health, especially muscle strength, is vital for their current educational pursuits and future well-being.

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“…Seven are examining intervention strategies for obstructive sleep apnea, three are addressing aging and AD risk, one is evaluating immune modulatory treatments for autoimmune skin A list of studies that are currently recruiting through the registry can be found on the DS-Connect website. Among the projects supported by the registry are a survey of dietary supplement use in children with DS (Lewanda et al, 2018), a survey of parents utilizing a validated tool to assess measures of global health in their children with DS (S. L. Santoro, Haugen, et al, 2023), application of the Research Attitudes Questionnaire to over 1000 families in the DS-Connect Registry (Lott et al, 2022), the comfort of caregivers with the transition to adult care for their children with DS (VanZant & McCormick, 2021), and a survey of preventive and gynecologic health care uptake by adult women with DS (Smith et al, 2020). One of the most significant events sponsored by the…”

Section: Ds Clinical Trialsmentioning

confidence: 99%

The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan

Bardhan,

Li,

Tarver

et al. 2024

American J of Med Genetics Pt C

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The National Institutes of Health (NIH) has a long‐standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans‐NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project (INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE). Reflecting the three INCLUDE components of basic science research, cohort development, and clinical trials, the Project has published funding opportunities to address conditions such as immune disorders and Alzheimer's disease. Due to a steady expansion in dedicated funding over its first 5 years, INCLUDE has invested $258 M in over 250 new research projects. INCLUDE also supports training initiatives to expand the number and diversity of investigators studying DS. NIH has funded an INCLUDE Data Coordinating Center that is collecting de‐identified clinical information and multi‐omics data from research participants for broad data sharing and secondary analyses. Through the DS‐Connect® registry, INCLUDE investigators can access recruitment support. The INCLUDE Research Plan articulates research goals for the program, with an emphasis on diversity of research participants and investigators. Finally, a new Cohort Development Program is poised to increase the impact of the INCLUDE Project by recruiting a large DS cohort across the lifespan.

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Global health measures from a National Down Syndrome Registry

Cited by 3 publications

References 24 publications

Quality of life measures in children with Down syndrome with disorders of gut–brain interaction

Quality of life measures in children with Down syndrome with disorders of gut–brain interaction

The benefit of a four-week range of motion exercise on hand muscle strength in children with Down Syndrome

The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan

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