Associations between speech features and phenotypic severity in Treacher Collins syndrome

BMC Medical Genetics

Christina Persson¹  Harriet Akre²  Pamela Åsten³ 

[1]Institute of Neuroscience and Physiology, Division of Speech and Language Pathology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

[2]Department of Otorhinolaryngology, Head and Neck Surgery, Oslo University Hospital, Oslo, Norway

[3]TAKO-centre, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway

关键词: Orofacial dysfunction;    Phenotype;    Intelligibility;    Voice;    Nasal resonance;    Articulation;    Mandibulofacial dysostosis;    OMIM 154500;   

Others  :  1092022
DOI  :  10.1186/1471-2350-15-47

 received in 2013-06-25, accepted in 2014-04-11,  发布年份 2014

【 摘 要 】

Background

Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development. Characteristic hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx have been described in detail. However, reports on the impact of these malformations on speech are few. Exploring speech features and investigating if speech function is related to phenotypic severity are essential for optimizing follow-up and treatment.

Methods

Articulation, 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). A speech composite score (0–6) was calculated to reflect the variability of speech deviations. 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).

Results

Children and adolescents presented with significantly higher speech composite scores (median 4, range 1–6) than adults (median 1, range 0–5). 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. The variability of speech dysfunction in TCS was exhibited by individual combinations of speech deviations in 13/19 participants. The speech composite scores correlated with TCS severity scores and NOT-S total scores. Speech composite scores higher than 4 were associated with cleft palate. 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). Intelligibility of speech among the children was markedly inconsistent and clearly affecting the understandability.

Conclusions

Multiple speech deviations were identified in children, adolescents and a subgroup of adults with TCS. Only children displayed markedly reduced intelligibility. Speech was significantly correlated with phenotypic severity of TCS and orofacial dysfunction. 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.

【 授权许可】

   
2014 Åsten et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

【 参考文献 】

• [1]Trainor PA, Dixon J, Dixon MJ: Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009, 17:275-283.
• [2]Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011, 43:20-22.
• [3]Arvystas M, Shprintzen RJ: Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J 1991, 28:226-231.
• [4]Herring SW, Rowlatt UF, Pruzansky S: Anatomical abnormalities in mandibulofacial dysostosis. Am J Med Gen 1979, 3:225-259.
• [5]Kreiborg S: Discussion: the skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). Plast Reconstr Surg 1986, 78:469.
• [6]Posnick JC, Ruiz RL: Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J 2000, 37:434.
• [7]Pron G, Galloway C, Armstrong D, Posnick J: Ear malformation and hearing loss in patients with Treacher Collins syndrome. Cleft Palate Craniofac J 1993, 30:97-103.
• [8]Shprintzen RJ, Croft C, Berkman MD, Rakoff SJ: Pharyngeal hypoplasia in Treacher Collins syndrome. Arch Otolaryngol 1979, 105:127-131.
• [9]Peterson-Falzone S, Pruzansky S: Cleft palate and congenital palatopharyngeal incompetency in mandibulofacial dysostosis: frequency and problems in treatment. Cleft Palate J 1976, 13:354-360.
• [10]Thompson JT, Anderson PJ, David DJ: Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg 2009, 20:2028-2035.
• [11]Vallino-Napoli LD: A profile of the features and speech in patients with mandibulofacial dysostosis. Cleft Palate Craniofac J 2002, 39:623-634.
• [12]Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004, 12:879-890.
• [13]Posnick JC: TCS: perspectives in evaluation and treatment. J Oral Maxillofac Surg 1997, 55:1120-1133.
• [14]Perkins JA, Sie KC, Milczuk H, Richardson MA: Airway management in children with craniofacial anomalies. Cleft Palate Craniofac J 1997, 34:135-140.
• [15]Vallino L, Peterson-Falzone S, Napoli J: The syndromes of Treacher Collins and Nager. Adv Speech Lang Pathol 2006, 8:34-44.
• [16]Hustad KC, Schueler B, Schultz L, Duhadway C: Intelligibility of 4 year old children with and without cerebral palsy. J Speech Lang Hear Res 2012, 55:1177-1189.
• [17]Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K: Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol 2012, 269:331-337.
• [18]Åsten P, Skogedal N, Nordgarden H, Axelsson S, Akre H, Sjögreen L: Orofacial functions and oral health associated with Treacher Collins syndrome. Acta Odontol Scand 2013, 71:616-625.
• [19]Brook PH, Shaw WC: The development of an index of orthodontic treatment priority. Eur J Orthod 1989, 11:309-320.
• [20]Andersson-Norinder J: Mun-H-Center Questionnaire. Göteborg: Mun-H-Center förlag; 1996.
• [21]Bakke M, Bergendal B, McAllister A, Sjögreen L, Åsten P: Development and evaluation of a comprehensive screening for orofacial dysfunction. Swed Dent J 2007, 31:75-84.
• [22]Lohmander A, Borell E, Henningsson G, Havstam C, Lundeborg I, Persson C: SVANTE: Svenskt Artikulations- och NasalitetsTest (Swedish Articulation and Nasality Test). Skivarp, Sweden: Pedagogisk Design; 2005.
• [23]Shriberg LD, Kwiatkowski J: Phonological disorders III: a procedure for assessing severity of involvement. J Speech Hear Disord 1982, 47:256-270.
• [24]Lohmander A, Willadsen E, Persson C, Henningsson G, Bowden M, Hutters B: Methodology for speech assessment in the Scandcleft project- an international randomized clinical trial on palatal surgery: experiences from a pilot study. Cleft Palate Craniofac J 2009, 46:347-362.
• [25]John A, Sell D, Sweeney T, Harding-Bell A, Williams A: The cleft audit protocol for speech-augmented: a validated and reliable measure for auditing cleft speech. Cleft Palate Craniofac J 2006, 43:272-288.
• [26]Sweeney T: Nasality – assessment and intervention. In Cleft palate speech: assessment and intervention. Edited by Howard S, Lohmander A. Chichester: Wiley-Blackwell; 2011:199-220.
• [27]Aronson AE, Bless DM: Clinical voice disorders. New York: Thieme; 2009:2-5.
• [28]Hammarberg B, Fritzell B, Gauffin J, Sundberg J, Wedin L: Perceptual and acoustic correlates of abnormal voice qualities. Acta Otolaryngol 1980, 90:441-451.
• [29]Whitehill TL: Assessing intelligibility in speakers with cleft palate: a critical review of the literature. Cleft Palate Craniofac J 2002, 39:50-58.
• [30]Altman DG: Practical statistics for medical research. London: Chapman and Hall; 1991:403-406.
• [31]Blamey PJ, Sarant JZ, Paatsch LE, Barry JG, Bow CP, Wales RJ, Wright M, Psarros C, Rattigan K, Tooher R: Relationships among speech perception, production, language, hearing loss, and age in children with impaired hearing. J Speech Lang Hear Res 2001, 44:264-285.
• [32]Lohmander A, Persson C: A longitudinal study of speech production in Swedish children with unilateral cleft lip and palate and two-stage palatal repair. Cleft Palate Craniofac J 2008, 45:32-41.
• [33]Peterson-Falzone SJ: Impact of communicative disorders on otolaryngologic care of patients with craniofacial anomalies. Otolaryngol Clin North Am 1981, 14:895-915.
• [34]Sweeney T, Sell D: Relationship between perceptual ratings of nasality and nasometry in children/adolescents with cleft palate and/or velopharyngeal dysfunction. Int J Lang Commun Disord 2008, 43:265-282.
• [35]Østerhus IN, Skogedal N, Akre H, Johnsen UL-H, Nordgarden H, Åsten P: Salivary gland pathology as a new finding in Treacher Collins syndrome. Am J Med Gen Part A 2012, 158A:1320-1325.
• [36]Borg E, Edquist G, Reinholdson AC, Risberg A, McAllister B: Speech and language development in a population of Swedish hearing-impaired pre-school children, a cross-sectional study. Int J Pediatr Otorhinolaryngol 2007, 71:1061-1077.
• [37]Beaune L, Forrest CR, Keith T: Adolescents’ perspectives on living and growing up with Treacher Collins syndrome: a qualitative study. Cleft Palate Craniofac J 2004, 41:343-350.