Nutrition problems in CdLS
- Cornelia de Lange Syndrome and nutritional problems: a new problem to be investigated
Background
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.
Methods
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 (www.CdLSusa.org).
Results
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.
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- ^ 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.
- ^ Hillesund, E.; Skranes, J.; Trygg, K.U.; Bøhmer, T. Micronutrient status in children with cerebral palsy. Acta Paediatr. 2007, 96, 1195–1198.
- ^ 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)