Health Supervision for Children With Down Syndrome

Bull, Marilyn J.

doi:10.1542/peds.2011-1605

Cited by 925 publications

(694 citation statements)

References 85 publications

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“…22 Although current DS health supervision guidelines encourage the monitoring of BMI and emphasize education to prevent obesity, there are no specific recommendations for obesity-related laboratory assessment. 23 The mechanism by which individuals with DS develop a less favorable lipid profile than their siblings is unclear, but, based on our results, this mechanism does not appear to be explained by overall adiposity, as measured by BMI. Differences observed in lipid profile may be related to fat distribution, but, because the current study was not designed to answer this question, anatomic distribution of fat was not measured.…”

Section: Discussionmentioning

confidence: 63%

Lipid Profiles of Children With Down Syndrome Compared With Their Siblings

Adelekan¹,

Magge

Shults

et al. 2012

Pediatrics

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WHAT'S KNOWN ON THIS SUBJECT: Some researchers have suggested that individuals with Down syndrome (DS) are protected from atherosclerotic disease; however, recent data from 2 large cohort studies of individuals with DS are significant for increased mortality from ischemic heart disease and cerebrovascular disease. WHAT THIS STUDY ADDS:This study compares lipid profiles among children with DS and their siblings, highlighting the presence of a less favorable lipid profile in this high-risk population.abstract OBJECTIVES: Our objective was to compare serum lipid profiles, total cholesterol (TC), low-density lipoprotein (LDL), triglycerides (TG), and high-density lipoprotein (HDL) between children with Down syndrome (DS) and their non-DS siblings. We hypothesized that the children with DS would have higher TC, LDL, and TG and lower HDL. The secondary aim was to explore if the difference in lipid profiles could be explained by differences in weight status.METHODS: This was a cross-sectional study. Fasting lipid profile was obtained from 27 children with DS and 31 siblings between 4 and 10 years of age with no severe comorbidities (heart disease, cancer, hypothyroidism, diabetes, or obesity). BMI was calculated and BMI z scores were used to account for differences in BMI throughout childhood.RESULTS: Children with DS had higher TC (difference, 11.2 mg/dL; 95% confidence interval: 2.5-19.9; P = .01), LDL (12.8 mg/dL; 7.2-18.4; P , .001), TG (33.6 mg/dL; 11.1-56.1; P = .003), and lower HDL (27.6 mg/dL; 212.1 to 23.0; P = .001) after adjustment for race, gender, age, and ethnicity. Results remained significant after additional adjustment for BMI z score: TC (14.9 mg/dL; 4.9-24.9; P = .003), LDL (16.6 mg/dL; 10.1-23.2; P , .001), TG (32.7 mg/dL; 7.7-57.7; P = .01), and lower HDL (26.4 mg/dL; 212.2 to 20.7; P = .03).CONCLUSIONS: Children with DS have less favorable lipid profiles than their siblings independent of weight status. These findings may have important implications for the screening and treatment of this large population at increased risk for ischemic heart disease. Pediatrics

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Section: Discussionmentioning

confidence: 63%

Lipid Profiles of Children With Down Syndrome Compared With Their Siblings

Adelekan¹,

Magge

Shults

et al. 2012

Pediatrics

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“…It is possible that dissemination and uptake of guidelines is incomplete given their recent development at the time of data collection. In the past 10 years, professional societies such as the American Academy of Pediatrics, 43,44 the American College of Obstetricians and Gynecologists, 45 the American Society of Clinical Oncology, 46 and the American College of Medical Genetics and Genomics 47,48 have published numerous guidelines on topics that could potentially be useful for PCPs.…”

Section: Discussionmentioning

confidence: 99%

Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature

Mikat-Stevens

Larson

Tarini

2015

Genetics in Medicine

208

216

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Purpose: We aimed to systematically review the literature to identify primary-care providers' perceived barriers against provision of genetics services. Methods:We systematically searched PubMed and ERIC using key and Boolean term combinations for articles published from 2001 to 2012 that met inclusion/exclusion criteria. Specific barriers were identified and aggregated into categories based on topic similarity. These categories were then grouped into themes.Results: Of the 4,174 citations identified by the search, 38 publications met inclusion criteria. There were 311 unique barriers that were classified into 38 categories across 4 themes: knowledge and skills; ethical, legal, and social implications; health-care systems; and scientific evidence. Barriers most frequently mentioned by primary-care providers included a lack of knowledge about genetics and genetic risk assessment, concern for patient anxiety, a lack of access to genetics, and a lack of time. Conclusion:Although studies reported that primary-care providers perceive genetics as being important, barriers to the integration of genetics medicine into routine patient care were identified. The promotion of practical guidelines, point-of-care risk assessment tools, tailored educational tools, and other systems-level strategies will assist primary-care providers in providing genetics services for their patients.

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“…Patients with DS have cognitive impairment and complications from anomalies of several organ systems [2,3]. Trisomy 21 is the most common abnormal karyotype found in 95% of patients [4].…”

Section: Brief Communication (Original)mentioning

confidence: 99%

Brief communication (Original). Rapid diagnosis of trisomy 21 by relative gene copy using real-time quantitative polymerase chain reaction

et al. 2014

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Background: Trisomy 21 or Down syndrome (DS) is the most common aneuploidy disorder. Fetal karyotypic analysis remains the criterion standard for prenatal diagnosis of DS, although the method is time consuming and requires skilled personnel. Real-time quantitative polymerase chain reaction (qPCR) can be used to determine a difference in the amount of gene copy by calculation of the difference between the cycle threshold (ΔC

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Health Supervision for Children With Down Syndrome

Cited by 925 publications

References 85 publications

Lipid Profiles of Children With Down Syndrome Compared With Their Siblings

Lipid Profiles of Children With Down Syndrome Compared With Their Siblings

Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature

Brief communication (Original). Rapid diagnosis of trisomy 21 by relative gene copy using real-time quantitative polymerase chain reaction

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