Given the clinical relevance of these aspects, here, we retrospectively collected the data on feeding and swallowing abilities that had systematically been recorded in a relatively large, single-centre CS cohort to evaluate the evolution of the feeding and swallowing abilities with age. Īlthough feeding problems and swallowing issues have already been investigated in CS, there is no clear understanding of the skill progression according to age, and longitudinal data are lacking. Poor oral intakes may have unfavourable outcome on bone mineralization and growth during childhood and severe gastroesophageal reflux may imply the placement of a gastrostomy tube and the consequent exclusion of mouth feeding. In the majority of cases (> 80%), magnetic resonance imaging demonstrated the absence or hypoplasia of olfactory bulbs and sulci with a consequent or completely absent sense of smell. Moreover, surgical procedures to repair structural anomalies, including cleft lip/palate and choanal atresia, can postpone the introduction of oral feeding. Specifically, the ability to suck, swallow or chew can be ineffective or absent due to cranial nerve dysfunction. Prematurity, neurological impairment, long-term tube feeding and limited experiences with oral intake often result in a limited progression of child’s oral motor skills. According to Stromland et al., children with CS may experience persistent drooling (25%), resulting in a further negative factor on feeding abilities. įeeding problems and swallowing dysfunction have been reported as a common feature in CS, and over 90% individuals need artificial nutrition during their life. CS is an autosomal dominant disorder caused by loss-of-function variants in CHD7 or deletions of the gene within chromosome region 8q12, and previous studies reported the detection of pathogenic variants in 70–90% of clinically diagnosed CS cases. The acronym CHARGE was first suggested by Pagon et al. ĬS was first recognized by Hall and Hittner and, hence, it was initially called Hall-Hittner syndrome. Minor diagnostic criteria include orofacial cleft (frequent), distinctive facial appearance, tracheoesophageal fistula (occasional), limb abnormalities (occasional) and rarely immune deficiencies. The visual system is invariably affected, with an association between hypomorphic variants and milder ophthalmological features. The acronym ‘CHARGE’ describes the constellation of cardinal features characterizing the disorder, including coloboma (very frequent), heart defects (frequent), choanal atresia (frequent), retardation of growth (frequent) and/or development (very frequent), genitourinary malformation (very frequent for male, frequent for female) and external ear abnormalities (very frequent). Rehabilitation plays a key role in overcoming structural and functional difficulties and attaining appropriate eating skills.ĬHARGE syndrome (CS) (OMIM #214,800) is a rare congenital disorder with an incidence that ranges from 0.1 to 1.2/10,000 live births. Most patients started prolonged oral-motor treatments with speech language therapists in early childhood.Ĭonclusions: Although feeding and swallowing disorders are constant features in CS patients, a slow and gradual development of feeding abilities occurs in most cases. 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. The ability of eating foods requiring chewing was achieved at school age, after the acquisition of an adequate oral sensory processing. 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. Nearly 100% of CS new-borns had weak sucking at birth, and half of them demonstrated poor coordination between breathing and swallowing. 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). This study aims to investigate the level of these abilities at different ages and evaluate how they evolve during growth. To date, the feeding and oral-motor abilities of patients with CHARGE syndrome (CS) have not been longitudinally assessed.
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