Grobal study, Growth and Development

Grobal study: Developing Cornelia de Lange syndrome-specific growth charts for worldwide use

Up to 20% of the estimated 10.000 known syndromes are associated with either short or tall stature. However, syndrome-specific growth charts are only available for less than 25 syndromes. Due to the fact that growth in syndromes varies among different populations (e.g. Dutch patients with Down syndrome are up to 10 cm taller than their peers in other countries) 1, the available charts are often not usable in other parts of the world.

CdLS-specific growth charts for height, weight and head circumference are available in inches/pounds ( and centimeters/kilograms ( 2. However, new charts should be constructed for several reasons. First, the growth parameters of the existing growth charts were derived from 1970-1990. Due to the secular trend, the tendency that height increases in following generations, these data do not optimally represent the current growth of children with CdLS. Second, individuals with diagnoses other than CdLS may have been included individuals with a clinical diagnosis rather than a molecularly confirmed one were included. Third, because growth in CdLS is significantly influenced by the nature of the affected gene (e.g., it tends to be significantly less compromised due to a variant in SMC1A versus NIPBL 34, the current charts do not reflect the growth of children with a non-classic CdLS phenotype. Fourth, the charts represent growth in US individuals, whereas ideally, the charts should be made suitable for use in other populations as well.

To develop syndrome-specific growth charts for worldwide use for 10 syndromes including CdLS, we have 1) constructed an online platform for collection of growth data in eight languages, and 2) developed a method to translate the constructed charts into several population-specific charts. National and international family support groups will be asked to invite their members to fill out longitudinal data on growth, parental height, diagnosis, comorbidities and/or medication known to influence growth. In addition, heath care providers will be asked to contribute with data from patient cohorts. 

We expect that the above strategy will strongly increase both the number, quality and use of CdLS- specific growth charts. As a result, health care providers will be able to more reliably monitor growth, which in turn will improve patient care (e.g., by not starting/discontinuing tube feeding and/or identifying additional health problems at a younger age). Additionally, we expect that the ability to evaluate growth with an online usable CdLS growth chart will be of great relief to many families.  

Conflicts of interest: none.

  1. ^ Van Gameren-Oosterom HB, Van Dommelen P, Oudesluys-Murphy AM, Buitendijk SE, Van Buuren S, Van Wouwe JP. Healthy growth in children with Down syndrome. PLoS One 2012;7:e31079.
  2. ^ Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 1993;47:1042-9.
  3. ^ Huisman S, Mulder PA, Redeker E, et al. Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A 2017;173:2108-25.
  4. ^ Kline AD, Moss JF, Selicorni A, et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018;19:649-66.
Weitere Seiten mit demselben Thema finden Growth in Childhood5 Growth in Childhood15

Presenting Author: Leonie Menke
Authors: Leonie A Menke 1, Floor AM Postema 1, Sylvia Huisman 1,2, Jan M Wit 3, Raoul CM Hennekam 1

This study was supported with a grant from Emma Children’s Hospital Foundation

1 Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, the Netherlands
2 Prinsenstichting Institute, Purmerend, the Netherlands
3 Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands

Zuletzt geändert von Gerritjan Koekkoek am 2023/03/29 15:08
Erstellt von Gerritjan Koekkoek am 2019/07/09 14:51



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