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Published on: March 1, 2015
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome
R Onesimo1,2,3, E Sforza4, V Giorgio1,2,3
1Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.
Insights
Feeding and oral-motor abilities in CHARGE syndrome (CS) patients show gradual improvement over time, with early intervention and rehabilitation being crucial for developing eating skills despite persistent challenges.
Area of Science:
- Pediatric Medicine
- Developmental Biology
- Speech-Language Pathology
Background:
- Feeding problems and swallowing dysfunction are recognized challenges in CHARGE syndrome (CS).
- Multiple factors, including structural anomalies and neurological impairments, complicate feeding in individuals with CS.
- Previous research has noted gradual improvement in dysphagia in CS children, but with significant individual variation.
Purpose of the Study:
- To longitudinally assess feeding and oral-motor abilities in patients with CHARGE syndrome.
- To investigate the evolution of these abilities throughout childhood and adolescence.
- To evaluate the impact of interventions on feeding outcomes in CS.
Main Methods:
- Retrospective analysis of oral-motor features in 16 molecularly confirmed CHARGE syndrome patients.
- Age range of patients: 4-21 years, with a mean age of 11 years.
- Data collected on sucking, swallowing coordination, tube feeding dependence, and chewing abilities.
Main Results:
- Nearly all newborns with CS exhibited weak sucking, and half had impaired breathing-swallowing coordination.
- Tube feeding dependence decreased from 60% at birth to 13% by school age.
- Chewing ability and mature patterns with varied textures were not achieved by over half of the patients, even with nutritional support.
Conclusions:
- Feeding and swallowing disorders are consistent in CHARGE syndrome, but feeding abilities generally show slow, progressive development.
- Early and prolonged oral-motor therapy is vital for addressing functional and structural difficulties.
- Rehabilitation is key to helping patients achieve adequate eating skills.
Abstract:
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.
What Is Known:
• Feeding problems and swallowing dysfunction have been noted in CHARGE syndrome. • The involvement of multiple factors, including structural problems in the mouth, throat, or esophagus, and neurological impairment, make feeding a complicated task in CHARGE individuals.
What Is New:
• Dysphagia gradually improves in most CHARGE children over time, though with a wide interindividual variability. • The percentages of children with tube feeding dependence decrease over time from 60% at birth to 33% at 6 months and 13% at school age.
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