메뉴 건너뛰기




Volumn 158 A, Issue 12, 2012, Pages 3071-3079

Speech and hearing in adults with 22q11.2 deletion syndrome

Author keywords

22q11.2 deletion syndrome; Adults; Hearing; Speech

Indexed keywords

ADULT; ARTICLE; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; COHORT ANALYSIS; COMPENSATORY ARTICULATION; CONDUCTION DEAFNESS; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; HEARING DISORDER; HUMAN; MALE; NASAL SPEECH; NASALANCE SCORE; NOSE AIRFLOW; PALATOPHARYNGEAL INCOMPETENCE; PERCEPTION DEAFNESS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SCORING SYSTEM; SPEECH ARTICULATION; SPEECH DISORDER; SPEECH INTELLIGIBILITY; SPEECH LANGUAGE PATHOLOGIST;

EID: 84870249331     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35589     Document Type: Article
Times cited : (28)

References (27)
  • 4
    • 0034839553 scopus 로고    scopus 로고
    • Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS
    • D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA. 2001. Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J 39: 455-467.
    • (2001) Cleft Palate Craniofac J , vol.39 , pp. 455-467
    • D'Antonio, L.L.1    Scherer, N.J.2    Miller, L.L.3    Kalbfleisch, J.H.4    Bartley, J.A.5
  • 5
    • 0031844288 scopus 로고    scopus 로고
    • The annual incidence of DiGeorge/velocardiofacial syndrome
    • Devriendt K, Fryns JP, Mortier G. 1998. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35: 789-790.
    • (1998) J Med Genet , vol.35 , pp. 789-790
    • Devriendt, K.1    Fryns, J.P.2    Mortier, G.3
  • 6
    • 0033401203 scopus 로고    scopus 로고
    • Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome)
    • Digilio MC, Pacifico C, Tieri L, Marino B, Giannotti A, Dallapiccola B. 1999. Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol 33: 329-334.
    • (1999) Br J Audiol , vol.33 , pp. 329-334
    • Digilio, M.C.1    Pacifico, C.2    Tieri, L.3    Marino, B.4    Giannotti, A.5    Dallapiccola, B.6
  • 7
    • 0042632658 scopus 로고    scopus 로고
    • Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies
    • Digilio M, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. 2003. Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies. Clin Genet 63: 308-313.
    • (2003) Clin Genet , vol.63 , pp. 308-313
    • Digilio, M.1    Angioni, A.2    De Santis, M.3    Lombardo, A.4    Giannotti, A.5    Dallapiccola, B.6    Marino, B.7
  • 10
    • 33646877855 scopus 로고    scopus 로고
    • The cleft audit protocol for speech-augmented: A validated and reliable measure for auditing cleft speech
    • John A, Sell D, Sweeney T, Harding-Bell A, Williams A. 2006. The cleft audit protocol for speech-augmented: A validated and reliable measure for auditing cleft speech. Cleft Palate-Craniofac J 43: 272-288.
    • (2006) Cleft Palate-Craniofac J , vol.43 , pp. 272-288
    • John, A.1    Sell, D.2    Sweeney, T.3    Harding-Bell, A.4    Williams, A.5
  • 11
    • 33947228340 scopus 로고    scopus 로고
    • The prevalence of apraxia characteristics in patients with velocardiofacial syndrome as compared with other cleft populations
    • Kummer AW, Lee L, Stutz LS, Maroney A, Weidenbach J. 2007. The prevalence of apraxia characteristics in patients with velocardiofacial syndrome as compared with other cleft populations. Cleft Palate Craniofac J 44: 175-181.
    • (2007) Cleft Palate Craniofac J , vol.44 , pp. 175-181
    • Kummer, A.W.1    Lee, L.2    Stutz, L.S.3    Maroney, A.4    Weidenbach, J.5
  • 12
    • 0012097461 scopus 로고    scopus 로고
    • Intelligibility of dysarthric speech in words and sentences: Development of a computerised assessment procedure in Swedish
    • Lillvik M, Allemark E, Karlström P, Hartelius L. 1999. Intelligibility of dysarthric speech in words and sentences: Development of a computerised assessment procedure in Swedish. Logoped Phoniatr Vocol 24: 107-119.
    • (1999) Logoped Phoniatr Vocol , vol.24 , pp. 107-119
    • Lillvik, M.1    Allemark, E.2    Karlström, P.3    Hartelius, L.4
  • 15
    • 33645054583 scopus 로고    scopus 로고
    • Extending the communication phenotype associated with 22q11.2 microdeletion syndrome
    • Mills L, Gosling A, Sell D. 2006. Extending the communication phenotype associated with 22q11.2 microdeletion syndrome. Adv Speech-Language Pathol 8: 17-27.
    • (2006) Adv Speech-Language Pathol , vol.8 , pp. 17-27
    • Mills, L.1    Gosling, A.2    Sell, D.3
  • 16
    • 70350719204 scopus 로고    scopus 로고
    • The neuropsychology of 22q11 deletion syndrome: A neuropsychiatric study of 100 individuals
    • Niklasson L, Gillberg C. 2010. The neuropsychology of 22q11 deletion syndrome: A neuropsychiatric study of 100 individuals. Res Dev Disabil 31: 185-194.
    • (2010) Res Dev Disabil , vol.31 , pp. 185-194
    • Niklasson, L.1    Gillberg, C.2
  • 17
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome; a population based study in Western Sweden
    • Óskarsdóttir S, Vujic M, Fasth A. 2004. Incidence and prevalence of the 22q11 deletion syndrome; a population based study in Western Sweden. Arch Dis Child 89: 148-151.
    • (2004) Arch Dis Child , vol.89 , pp. 148-151
    • Óskarsdóttir, S.1    Vujic, M.2    Fasth, A.3
  • 18
    • 17644421861 scopus 로고    scopus 로고
    • Presenting phenotype in 100 children with 22q11 deletion syndrome
    • Óskarsdóttir S, Persson C, Eriksson BO, Fasth A. 2005. Presenting phenotype in 100 children with 22q11 deletion syndrome. Eur J Pediatr 164: 146-153.
    • (2005) Eur J Pediatr , vol.164 , pp. 146-153
    • Óskarsdóttir, S.1    Persson, C.2    Eriksson, B.O.3    Fasth, A.4
  • 20
    • 33748093284 scopus 로고    scopus 로고
    • Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome
    • Rommel N, VanTrappen G, Swillen A, Devriendt K, Feenstra L, Fryns JP. 1999. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns 10: 71-78.
    • (1999) Genet Couns , vol.10 , pp. 71-78
    • Rommel, N.1    VanTrappen, G.2    Swillen, A.3    Devriendt, K.4    Feenstra, L.5    Fryns, J.P.6
  • 22
    • 44149115417 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: 30 years of study
    • Shprintzen RJ. 2008. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14: 3-10.
    • (2008) Dev Disabil Res Rev , vol.14 , pp. 3-10
    • Shprintzen, R.J.1
  • 24
    • 84870238564 scopus 로고    scopus 로고
    • Nasality-Assessment and intervention
    • Howard S, Lohmander A, editors., 1st edition. Chichester: Wiley-Blackwell
    • Sweeney T. 2011. Nasality-Assessment and intervention. In: Howard S, Lohmander A, editors. Cleft palate speech: Assessment and intervention, 1st edition. Chichester: Wiley-Blackwell. pp 199-220.
    • (2011) Cleft palate speech: Assessment and intervention , pp. 199-220
    • Sweeney, T.1
  • 25
    • 0002515526 scopus 로고
    • Communicative impairment associated with clefting
    • Shprintzen RJ, Bardach J, editors. St Louis: Mosby-Year Book, Inc
    • Witzel MA. 1995. Communicative impairment associated with clefting. In: Shprintzen RJ, Bardach J, editors. Cleft palate speech management: A multidisciplinary approach. St Louis: Mosby-Year Book, Inc. pp 137-165.
    • (1995) Cleft palate speech management: A multidisciplinary approach , pp. 137-165
    • Witzel, M.A.1
  • 27
    • 1542495715 scopus 로고    scopus 로고
    • Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome
    • Zim S, Schelper R, Kellman R, Tatum S, Ploutz-Snyder R, Shprintzen R. 2003. Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Arch Facial Plast Surg 5: 503-510.
    • (2003) Arch Facial Plast Surg , vol.5 , pp. 503-510
    • Zim, S.1    Schelper, R.2    Kellman, R.3    Tatum, S.4    Ploutz-Snyder, R.5    Shprintzen, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.