Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old

Abstract

ObjectivesShwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder. Its predominant manifestations include exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive and susceptibility to short stature. Average birth weight is at the 25th percentile; by the first birthday, >50% of patients drop below the third percentile for height and weight.The study aims at estimating the growth charts for patients affected by SDS in order to give a reference tool helpful for medical care and growth surveillance through the first 8 years of patient’s life.Setting and participantsThis retrospective observational study includes 106 patients (64 M) with available information from birth to 8 years, selected among the 122 patients included in the Italian National Registry of SDS and born between 1975 and 2016. Gender, birth date and auxological parameters at repeated assessment times were collected. The General Additive Model for Location Scale and Shape method was applied to build the growth charts. A set of different distributions was used, and the more appropriate were selected in accordance with the smallest Akaike information criterion.ResultsA total of 408 measurements was collected and analysed. The median number of observations per patient amounted to 3, range 1–11. In accordance with the methods described, specific SDS growth charts were built for weight, height and body mass index (BMI), separately for boys and girls.The 50th and 3rd percentiles of weight and height of the healthy population (WHO standard references) respectively correspond to the 97th and 50th percentiles of the SDS population (SDS specific growth charts), while the difference is less evident for the BMI.ConclusionsSpecific SDS growth charts obtained through our analysis enable a more appropriate classification of patients based on auxological parameters, representing a useful reference tool for evaluating their growth during childhood.

Somatic development in children with Shwachman-Diamond Syndrome

“…Until now, the description of the development of patients with SDS has been limited to the analysis of height, weight and BMI. In 2018, Cipolli et al published the rst growth charts for SDS patients from the Italian cohort of 0-8 years old 5 . This retrospective study includes 106 patients.…”

“…The authors created speci c charts for height, weight and BMI for SDS children which serve as helpful tools used in monitoring treatment e ciency and for the purposes of routine medical follow-up. The 50th percentile of SDS charts for weight and height is positioned on the 3rd percentile of regular charts, both for boys and girls 5 .…”

“…The delayed bone age assessed in SDS patients 24 improves the prediction of their nal height. Analysing BMI, height and weight harmonic trend on SDS growth charts, according to Cipolli et al, the growth retardation is in uenced by the genetic defect rather than malabsorption/malnutrition or inherited factors 5 . Our analyses showed that weight and BMI of SDS patients with regard to the growth age, were not below − 2 SDS con rming that malnutrition is not the main factor leading to growth retardation.…”

“…Pancreatic insu ciency arises early in infancy and is characterised by replacement of exocrine components with fatty tissue, but at the same time, islets of Langerhans and ductal architecture are preserved. Pancreatic function spontaneously improves over time in almost 50% of patients 5 .…”

Somatic development in children with Shwachman-Diamond syndrome

“…Pancreatic insufficiency arises early in infancy and is characterized by replacement of exocrine components with fatty tissue, but at the same time, islets of Langerhans and ductal architecture are preserved. Pancreatic function spontaneously improves overtime in almost 50% of patients [5].…”