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Self-Reported Speech Problems in Adolescents and Young Adults with 22q11.2 Deletion Syndrome: A Cross-Sectional Cohort Study

  • Spruijt, Nicole E. (Department of Plastic Surgery, University Medical Center Utrecht) ;
  • Vorstman, Jacob A.S. (Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht) ;
  • Kon, Moshe (Department of Plastic Surgery, University Medical Center Utrecht) ;
  • Molen, Aebele B. Mink Van Der (Department of Plastic Surgery, University Medical Center Utrecht)
  • Received : 2014.05.09
  • Accepted : 2014.07.12
  • Published : 2014.09.15

Abstract

Background Speech problems are a common clinical feature of the 22q11.2 deletion syndrome. The objectives of this study were to inventory the speech history and current self-reported speech rating of adolescents and young adults, and examine the possible variables influencing the current speech ratings, including cleft palate, surgery, speech and language therapy, intelligence quotient, and age at assessment. Methods In this cross-sectional cohort study, 50 adolescents and young adults with the 22q11.2 deletion syndrome (ages, 12-26 years, 67% female) filled out questionnaires. A neuropsychologist administered an age-appropriate intelligence quotient test. The demographics, histories, and intelligence of patients with normal speech (speech rating=1) were compared to those of patients with different speech (speech rating>1). Results Of the 50 patients, a minority (26%) had a cleft palate, nearly half (46%) underwent a pharyngoplasty, and all (100%) had speech and language therapy. Poorer speech ratings were correlated with more years of speech and language therapy (Spearman's correlation=0.418, P=0.004; 95% confidence interval, 0.145-0.632). Only 34% had normal speech ratings. The groups with normal and different speech were not significantly different with respect to the demographic variables; a history of cleft palate, surgery, or speech and language therapy; and the intelligence quotient. Conclusions All adolescents and young adults with the 22q11.2 deletion syndrome had undergone speech and language therapy, and nearly half of them underwent pharyngoplasty. Only 34% attained normal speech ratings. Those with poorer speech ratings had speech and language therapy for more years.

Keywords

References

  1. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011;90:1-18. https://doi.org/10.1097/MD.0b013e3182060469
  2. Spruijt NE, Reijmanhinze J, Hens G, et al. In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review. PLoS One 2012;7:e34332. https://doi.org/10.1371/journal.pone.0034332
  3. D'Antonio LL, Scherer NJ, Miller LL, et al. Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J 2001;38:455-67. https://doi.org/10.1597/1545-1569(2001)038<0455:AOSCIC>2.0.CO;2
  4. Persson C, Lohmander A, Jonsson R, et al. A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome. J Commun Disord 2003;36:13-47. https://doi.org/10.1016/S0021-9924(02)00133-8
  5. Widdershoven JC, Beemer FA, Kon M, et al. Possible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome. J Plast Reconstr Aesthet Surg 2008;61:1016-23. https://doi.org/10.1016/j.bjps.2008.02.007
  6. Rommel N, Vantrappen G, Swillen A, et al. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns 1999;10:71-8.
  7. Dyce O, McDonald-McGinn D, Kirschner RE, et al. Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 2002;128:1408-12. https://doi.org/10.1001/archotol.128.12.1408
  8. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804. https://doi.org/10.1136/jmg.34.10.798
  9. Cohen E, Chow EW, Weksberg R, et al. Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet 1999;86:359-65. https://doi.org/10.1002/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V
  10. Golding-Kushner KJ, Shprintzen RJ. Velo-cardio-facial syndrome: treatment of communication disorders. San Diego, CA: Plural Pub Inc.; 2009.
  11. Solot CB, Gerdes M, Kirschner RE, et al. Communication issues in 22q11.2 deletion syndrome: children at risk. Genet Med 2001;3:67-71. https://doi.org/10.1097/00125817-200101000-00015
  12. Lima K, Folling I, Eiklid KL, et al. Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr 2010;169:983-9. https://doi.org/10.1007/s00431-010-1161-3
  13. Wang G, Wang K, Chen Y, et al. Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation. J Craniofac Surg 2009;20 Suppl 2:1934-8. https://doi.org/10.1097/SCS.0b013e3181b6cc9c
  14. Persson C, Friman V, Oskarsdottir S, et al. Speech and hearing in adults with 22q11.2 deletion syndrome. Am J Med Genet A 2012;158:3071-9.
  15. Meijer MF. Testing speech of children born with a cleft: a report from the speech therapy workgroup from the Dutch Association for Cleft Palate and Craniofacial Anomalies. Amsterdam: Vrije Universiteit Medisch Centrum; 2003.
  16. Henningsson G, Kuehn DP, Sell D, et al. Universal parameters for reporting speech outcomes in individuals with cleft palate. Cleft Palate Craniofac J 2008;45:1-17. https://doi.org/10.1597/06-086.1
  17. Randall P, Bakes FP, Kennedy C. Cleft-palate-type speech in the absence of cleft palate. Plast Reconstr Surg Transplant Bull 1960;25:484-95. https://doi.org/10.1097/00006534-196005000-00004
  18. Smith BE, Kuehn DP. Speech evaluation of velopharyngeal dysfunction. J Craniofac Surg 2007;18:251-61. https://doi.org/10.1097/SCS.0b013e31803ecf3b
  19. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007;370:1443-52. https://doi.org/10.1016/S0140-6736(07)61601-8
  20. Boseley ME, Hartnick CJ. Assessing the outcome of surgery to correct velopharyngeal insufficiency with the pediatric voice outcomes survey. Int J Pediatr Otorhinolaryngol 2004;68:1429-33. https://doi.org/10.1016/j.ijporl.2004.06.002
  21. Albery EH, Bennett JA, Pigott RW, et al. The results of 100 operations for velopharyngeal incompetence: selected on the findings of endoscopic and radiological examination. Br J Plast Surg 1982;35:118-26. https://doi.org/10.1016/0007-1226(82)90147-3
  22. Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 2008;14:3-10. https://doi.org/10.1002/ddrr.2
  23. Reyes MR, LeBlanc EM, Bassila MK. Hearing loss and otitis media in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 1999;47:227-33. https://doi.org/10.1016/S0165-5876(98)00180-3
  24. van Amelsvoort T, Daly E, Henry J, et al. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Arch Gen Psychiatry 2004;61:1085-96. https://doi.org/10.1001/archpsyc.61.11.1085
  25. Spruijt NE, Widdershoven JC, Breugem CC, et al. Velopharyngeal dysfunction and 22q11.2 deletion syndrome: a longitudinal study of functional outcome and preoperative prognostic factors. Cleft Palate Craniofac J 2012;49:447-55. https://doi.org/10.1597/10-049

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