Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Donato Rigante, Em Kuczynska, Chiara Leoni, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, A Cerchiari, M Tartaglia, Giuseppe Zampino

Risultato della ricerca: Contributo in rivistaArticolo in rivista


To date, the feeding and oral-motor abilities of patients with CHARGE syndrome (CS) have not been longitudinally assessed. This study aims to investigate the level of these abilities at different ages and evaluate how they evolve during growth. We retrospectively analysed oral-motor features of 16 patients with molecularly confirmed CS (age range 4-21 years old; mean 11 years; SD 6 years; median 10 years). Nearly 100% of CS new-borns had weak sucking at birth, and half of them demonstrated poor coordination between breathing and swallowing. Over time, the percentages of children with tube feeding dependence (60% at birth) faced a slow but steady decrease (from 33% at 6 months, 25% at 12 months, to 13% at school age) in tandem with the decreasing risk of aspiration. The ability of eating foods requiring chewing was achieved at school age, after the acquisition of an adequate oral sensory processing. A mature chewing pattern with a variety of food textures was not achieved by more than half of patients, including those requiring artificial enteral nutrition. Most patients started prolonged oral-motor treatments with speech language therapists in early childhood. Conclusions: Although feeding and swallowing disorders are constant features in CS patients, a slow and gradual development of feeding abilities occurs in most cases. Rehabilitation plays a key role in overcoming structural and functional difficulties and attaining appropriate eating skills.
Lingua originaleEnglish
pagine (da-a)1869-1877
Numero di pagine9
RivistaEuropean Journal of Pediatrics
Stato di pubblicazionePubblicato - 2023


  • Nutrition
  • CHARGE syndrome


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