Table 2 Protocol for the evaluation of the nutritional status of people with achondroplasia from birth

Anthropometric assessment (in all follow-up visit except skin folds, from 3 years old)

Weight

Height and height sitting

BMI, Height/Weight, Rohrer

Verify according to the reference percentile tables

Cranial perimeter

Verify according to the reference percentile tables

Skinfolds thicknesses (triceps, biceps, abdominal, suprailiac, subscapular, middle thigh and leg)

In the absence of predictive equations, apply a summary of folds

Body perimeters (arm, waist, hip, gluteus, middle thigh, leg)

Waist circumference

Waist/hip index

DEXA (in all follow-up visit)

Body composition: total fat mass, fat mass distribution

Android/gynoid fat mass ratio

Indirect calorimetry (every 2 years)

Value of resting energy expenditure

Value of the respiratory coefficient

Compare with normal range

Dietary records (in all follow-up visit)

72 h registration

Frequencies of food consumption

Assessment of energy intake, % of macronutrients and energy distribution, % of energy in each meal compared to the total

Valuation of food and beverages consumption

Blood test (every years)

Blood pressure (in all follow-up visit)

Fasting glycemia, insulinemia and lipidemia

Leptin, Ghrelin, anorexigenic gastrointestinal hormones: Cholecystokinin (CCK), Tyrosine-tyrosine peptide (PYY), Pancreatic polypeptide (PP), Insulinotropic glucose-dependent polypeptide (GIP), Glucagon-like petptide 1 (GLP-1), Oxintomodulin (OXM), Glucagon-like petptide 2 (GLP-2), orexigenic and anorexigenic neuropeptides (Corticotropin-releasing hormone (CRH), melanocortin, agouti protein, cocaine- and amphetamine-regulated transcript (CART) and Melanin-concentrating hormone (MCH))

Cortisol, noradrenalin, thyroid hormones

Compare with normal range