What question did this study set out to answer?

To develop growth charts specific to Down syndrome from an Italian cohort and validate BMI as a predictor of metabolic risks.

January 10, 2026Journal of Endocrinological Investigation0 citations

TRISOMY 21: development of syndrome-specific growth charts from a wide Italian cohort and validation of BMI as a predictor of increased risk of metabolic derangement

ACAlessandro CattoniAzienda Ospedaliera San Gerardo SMSilvia MolinariAzienda Ospedaliera San Gerardo LCLuisa CalìUniversity of Milano-Bicocca

Key Result

In Italian children with Down syndrome, higher BMI centiles were associated with increased triglycerides, cholesterol, and uric acid levels, with the 90th BMI centile indicating risk for dyslipidemia.

Key Points

To develop growth charts specific to Down syndrome from an Italian cohort and validate BMI as a predictor of metabolic risks.
Conducted a retrospective, bicentric study collecting data from two cohorts.
Gathered auxological and biochemical data from Italian children and adolescents with Down syndrome.
Assessed height, weight, and BMI at intervals of 6 to 12 months from 1992 to 2024.
Developed syndrome-specific growth charts from a sample of 526 patients and 2796 clinical evaluations.
Compared these charts to existing USA charts, revealing significant differences in weight and BMI distributions.
Identified the 90th percentile of BMI as a risk threshold for dyslipidemia and hyperuricemia, correlating higher BMI with increased triglycerides and cholesterol levels.

Structured PICO

Population

526 Italian children and adolescents with Down syndrome (Trisomy 21)

Comparator

USA growth charts

Outcome

Age-dependent distribution of height, weight, and BMI, and association of BMI with triglycerides, cholesterol, glycated hemoglobin, and uric acidsurrogate

Italian-specific growth charts for children with Down syndrome demonstrate significant differences from USA charts and identify the 90th BMI percentile as a threshold for metabolic risk.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

PURPOSE: The growth charts for individuals with Down syndrome (DS) available to-date were developed from a cohort of patients from the USA. As diet and environmental factors play a key role on auxological attainment, the growth of patients from the Mediterranean area should be assessed by means of dedicated centiles. Accordingly, we aimed to develop growth charts from a wide Italian population and to provide a metabolic validation for the BMI distribution outlined. METHODS: Retrospective, bicentric study. We gathered auxological and biochemical data from two cohorts of Italian children and adolescents with DS assessed every 6- to 12-months between 1992 and 2024. RESULTS: 526 patients were enrolled. We longitudinally retrieved the auxological data recorded in the setting of 2796 clinical evaluations. By assessing height, weight and BMI with reference to age, we outlined the age-dependent distribution of each parameter and developed syndrome-specific growth charts. When comparing our charts with the USA ones, the latter showed a statistically greater upward trendline in weight and BMI. Eventually, we assessed the distribution of triglycerides, cholesterol, glycated hemoglobin and uric acid with reference to the BMI. A higher BMI centile was statistically associated with greater triglycerides, cholesterol, and uric acid levels, and we identified the 90th centile of BMI as a risk threshold for dyslipidemia and hyperuricemia. CONCLUSION: We developed DS-specific growth charts from a wide Italian population. The comparison with the USA percentiles outlined statistically significant differences in the distribution of weight and BMI, thus highlighting the need of dedicated charts for individuals from the Mediterranean area.

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