High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines

Down syndrome (DS) is the most common chromosomal abnormality associated with intellectual disabilities. Many metabolic issues begin in childhood, and children without DS are reported to have a high prevalence of metabolic syndrome (MS) according to various studies. However, our understanding of the risk of MS in children with DS is limited. A cross-sectional study assessed the prevalence of MS in DS children aged 10-18 during 2022-2024. Demographic details and anthropometric measurements were recorded for all participants. Fasting blood samples were collected for blood glucose, insulin, and lipid profile analysis. The modified NCEP-ATP III criteria were used to classify the MS. We also evaluated insulin resistance (IR) using HOMA-IR and body adiposity patterns with a DEXA scan in DS children aged 6-18. Seventy-six children aged 10-18 and 38 aged 6-9 were enrolled. The prevalence of MS was 18% in our cohort. Dyslipidemia (high triglycerides and low HDL) was observed in 21% and 15.8% of children aged 6-9 and 10-18, respectively. IR was observed in 27.6% and 7.8% of children aged 10-18 and 6-9, respectively. IR was positively correlated with BMI, whereas no correlation was observed with MS or dyslipidemia. Total body fat mass was positively correlated with MS. Our study observed a higher prevalence (18.0%) of MS than age-matched general population studies (pooled prevalence: 5.0%). Additionally, we observed a high prevalence of dyslipidemia and IR from 6 years of age. The results indicate the need to review the management guidelines and consider incorporating metabolic workups.

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Journal
American Journal of Medical Genetics Part A
Published
2026-03-08
DOI
https://doi.org/10.1002/ajmg.a.70110
Primary Topic
Down syndrome and intellectual disability research
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article
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article

High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines

Lakshmy Ramakrishnan, Selvamanojkumar Sundaravel, Neerja Gupta, Manisha Jana et al.
American Journal of Medical Genetics Part A
Down syndrome and intellectual disability research
article

High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines

Lakshmy Ramakrishnan, Selvamanojkumar Sundaravel, Neerja Gupta, Manisha Jana, Veena Kalra, Vandana Jain, Rajni Sharma
article en

Abstract

Down syndrome (DS) is the most common chromosomal abnormality associated with intellectual disabilities. Many metabolic issues begin in childhood, and children without DS are reported to have a high prevalence of metabolic syndrome (MS) according to various studies. However, our understanding of the risk of MS in children with DS is limited. A cross-sectional study assessed the prevalence of MS in DS children aged 10-18 during 2022-2024. Demographic details and anthropometric measurements were recorded for all participants. Fasting blood samples were collected for blood glucose, insulin, and lipid profile analysis. The modified NCEP-ATP III criteria were used to classify the MS. We also evaluated insulin resistance (IR) using HOMA-IR and body adiposity patterns with a DEXA scan in DS children aged 6-18. Seventy-six children aged 10-18 and 38 aged 6-9 were enrolled. The prevalence of MS was 18% in our cohort. Dyslipidemia (high triglycerides and low HDL) was observed in 21% and 15.8% of children aged 6-9 and 10-18, respectively. IR was observed in 27.6% and 7.8% of children aged 10-18 and 6-9, respectively. IR was positively correlated with BMI, whereas no correlation was observed with MS or dyslipidemia. Total body fat mass was positively correlated with MS. Our study observed a higher prevalence (18.0%) of MS than age-matched general population studies (pooled prevalence: 5.0%). Additionally, we observed a high prevalence of dyslipidemia and IR from 6 years of age. The results indicate the need to review the management guidelines and consider incorporating metabolic workups.

American Journal of Medical Genetics Part A
All India Institute of Medical Sciences (IN)
Quality Education
Openalex Percentile: Top 34%
Down syndrome and intellectual disability research
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High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines — Lakshmy Ramakrishnan, Selvamanojkumar Sundaravel, et al. · American Journal of Medical Genetics Part A (2026) | TGRS Research Map | TGRS