Īnterior open bite and Class II malocclusion are common findings in children and adolescents with TCS, while Class I and III malocclusion are more rare. Complicated airway management may delay palatal repair with an average of one year. Other types of palatal malformations such as submucous clefts, bifid uvula and short palate can occur. Isolated cleft palate has been reported in approximately one-third of affected individuals. Some children may require tracheostomy from early life until the airway restriction can be resolved by mandibular advancement to relieve obstruction on tongue base level. Compromised respiration at birth has been reported in nearly half of the 47 patients treated by the Australian Craniofacial Unit. Nasal abnormalities and pharyngeal restrictions are assumed to compromise respiration and affect swallowing. Pharyngeal hypoplasia at all levels, with the most severe narrowing at the junction of the oro- and hypopharynx near the tongue base, is a primary feature in TCS. The nasal passages may be obstructed by choanal atresia or stenosis due to maxillary hypoplasia. Pronounced facial convexity is related to mandibular retrognathism causing anterior open bite malocclusion, while lip incompetence is related to retruded lower lip and chin. The chin is dysplastic and horizontally retracted, resulting in markedly reduced posterior facial height. The variability of phenotypic expression of TCS is considerable. Extended understanding of speech characteristics in TCS and investigating how these are associated with other features typical of the syndrome is therefore of great interest. However, reports on the impact of these malformations on speech are few and relate primarily to individuals younger than 20 years of age. Hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx due to neuroepithelial cell death have been described in detail. TCOF1 mutations are inherited in an autosomal dominant manner, but approximately 60% are de novo mutations. The disorder most commonly arises from mutations of the TCOF1 gene encoding for the treacle protein, which is essential for craniofacial development. Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development affecting 1 in 50 000 live births. Follow-up and treatment of speech should still be focused on young patients, but some adults with TCS seem to require continuing speech and language pathology services. Speech was significantly correlated with phenotypic severity of TCS and orofacial dysfunction. Only children displayed markedly reduced intelligibility. Multiple speech deviations were identified in children, adolescents and a subgroup of adults with TCS. Intelligibility of speech among the children was markedly inconsistent and clearly affecting the understandability. The percent of intelligible words in connected speech was significantly lower in children and adolescents (median 77%, range 31–99) than in adults (98%, range 93–100). Speech composite scores higher than 4 were associated with cleft palate. The speech composite scores correlated with TCS severity scores and NOT-S total scores. The variability of speech dysfunction in TCS was exhibited by individual combinations of speech deviations in 13/19 participants. Nearly all children and adolescents (6/8) displayed speech deviations of articulation, nasal resonance and voice, while only three adults were identified with multiple speech aberrations. ResultsĬhildren and adolescents presented with significantly higher speech composite scores (median 4, range 1–6) than adults (median 1, range 0–5). TCS severity scores of phenotypic expression and total scores of Nordic Orofacial Test-Screening (NOT-S) measuring orofacial dysfunction were used in analyses of correlation with speech characteristics (speech composite scores). A speech composite score (0–6) was calculated to reflect the variability of speech deviations. MethodsĪrticulation, nasal resonance, voice and intelligibility were examined in 19 individuals (5–74 years, median 34 years) divided into three groups comprising children 5–10 years (n = 4), adolescents 11–18 years (n = 4) and adults 29 years and older (n = 11). Exploring speech features and investigating if speech function is related to phenotypic severity are essential for optimizing follow-up and treatment. However, reports on the impact of these malformations on speech are few. Characteristic hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx have been described in detail. Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development.
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