Nutrition problems in CdLS

Cornelia de Lange Syndrome and nutritional problems: a new problem to be investigated


Cornelia de Lange Syndrome (CdLS) is a genetic condition characterized by intellectual disability, facial dysmorphisms and growth problems. Biological basis is represented by mutations in several genes of the Cohesin pathway. Due to high clinical and genetic variability the existence of a CdLS spectrum has been recently defined1. Although eating difficulties are a well-known feature of the disease, no specific data have been published about qualitative and quantitative nutritional deficiencies in these patients. Currently, in the literature, there are data on the nutritional status only for children with cerebral palsy 2 3 4.


We evaluated the incidence of qualitative and quantitative nutritional deficiencies through the collection of a 3 day dietary diary in 73 CdLS patients. Individual caloric intake assessment was compared with values suggested by CdLS Foundation ( 


Our cohort includes 73 patients, 35 males, 38 females, with a median age of 11 years. 39/47 (82%) presented NIPBL mutations. 8/47 (17%)   mutations in other genes. 28/73 (38%) had a mild Intellectual disability, moderate in 27/73 (37%) and severe in 18/73 (25%). According to BMI only 50% of patients were in the 10-90th centile . 31/73 (42%) showed a BMI <10% (9±6) while 6/73 (8%) had a value > 90% (16.5±12).
62 of 73 patients (85%) provided us with a complete dietary description. We observed quantitative caloric imbalances in 47/62 (76%) patients. In particular 27/62 (43%) have a low caloric diet, while 20/62 (33%) have an excess of calories in their diets. Only 15/62 (24%) have a normal caloric intake.
Collected data evidenced unbalanced diets also from qualitative point of view; the distribution of the main macronutrients was abnormal in 48/62 patients (77%). In particular, alterations in the protein intake are present in 29/62 patients (47%), in both proteins and lipids in 13/62 (21%), while alterations only in lipids are found in 6/62 (10%). All of the 42 patients with altered protein intake presented with an excess of protein in their diet. On the contrary, in patients with an imbalance of lipid levels, 5/19 (26%) have a low lipid intake in their diet, while 14/19 (74%) have a high fat diet.
We searched for possible correlations between molecular classification, degree of intellectual disability and nutritional imbalance. Results did not show any correlation. We then searched for a correlation between BMI and nutritional intakes but collected data showed that BMI is not correlated with the caloric intake introduced with the diet. 


Our results underline how the food intake of patients affected with CdLS can be complex and unbalanced both from the quantitative and qualitative point of view. The great majority of patients, irrespective of their clinical severity and genomic background, showed evident anomalies in their diets. Nutritional consultation can be effective in order to help parents to better feed their children.

Interestingly quantitative imbalances in the nutritional intake do not affect directly the patient's BMI. In fact the great majority of patients with a low BMI received a normal/high caloric diet. This observation  suggests that the individual growth evolution of CdLS patients could be only moderately influenced by caloric intake.

  1. ^ Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2018 Oct;19(10):649-666. Review
  2. ^ Dall’Oglio, Natasa F. Mis, Iva Hojsak, Rok Orel, Alexandra Papadopoulou,Michela Schaeppi, Nikhil Thapar, Michael Wilschanski, Peter Sullivan and Frederic Gottrand. European Society for Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for evaluation and treatment of Gastrointestinal and Nutritional Complications in Children with Neurological Impairment.
  3. ^ Hillesund, E.; Skranes, J.; Trygg, K.U.; Bøhmer, T. Micronutrient status in children with cerebral palsy. Acta Paediatr. 2007, 96, 1195–1198.
  4. ^ Cereda, A. et al. A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 172, 179–189 (2016)

Presenting Author: Barbara Parma

Authors: Barbara Parma 1,Valentina Decimi 2, Maria Cristina Provero 3 , Anna Cereda 4,  Roberto Panceri 2, Silvia Tajè 1, Caterina Funari 1 , Milena Mariani 1-5 and Angelo Selicorni 1

1) Department of Pediatrics, ASST-Lariana. Sant’Anna Hospital, San Fermo della Battaglia (Como), Italy.
2) Department of Pediatrics, University of  Milan Bicocca, Monza, Italy.
3) Department of Clinical and Experimental Medicine, Ospedale Pediatrico Filippo del Ponte, Varese, Italy.
4) Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
5) Clinical Paediatric Genetic, University of Milan Bicocca, Milan, Italy.    

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Last modified by Gerritjan Koekkoek on 2023/03/29 16:07
Created by Gerritjan Koekkoek on 2019/07/09 15:56



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