The prevalence of apraxia characteristics in patients with velocardiofacial syndrome as compared with other cleft populations

Cleft Palate-Craniofacial Journal

Volumn 44, Issue 2, 2007, Pages 175-181

  Kummer, Ann W ^a,b   Lee, Linda ^c   Stutz, Lindsay Schaadt ^c   Maroney, Adam ^c   Brandt, Jennifer Weidenbach ^c  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI MEDICAL CENTER   (United States)

^c UNIVERSITY OF CINCINNATI   (United States)

Author keywords

Apraxia; Developmental apraxia; Dyspraxia; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; APRAXIA; ARTICLE; CHILD; CLEFT LIP PALATE; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HUMAN; MALE; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SPEECH; VELOCARDIOFACIAL SYNDROME;

APRAXIAS; AUDIOMETRY, PURE-TONE; CHILD; CHILD LANGUAGE; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; DIGEORGE SYNDROME; FEMALE; HUMANS; MALE; MOTOR SKILLS; MOUTH; PHONETICS; PROSPECTIVE STUDIES; SPEECH; SPEECH DISORDERS; SPEECH INTELLIGIBILITY;

EID: 33947228340     PISSN: 10556656     EISSN: None     Source Type: Journal    
DOI: 10.1597/05-170.1     Document Type: Article

References (41)

1. Antshel K, Conchelos J, Lanzetta G, Fremont W, Kates WR. Behavioral and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome). Psychiatry Res. 2005;138:235-245.
2. Carneol SO, Marks SM, Weik L. The speech-language pathologist: key role in the diagnosis of velocardiofacial syndrome. Am J Speech Lang Path. 1999;8:23-32.
3. Crary, MA. Developmental Motor Speech Disorders. San Diego: Singular; 1993.
4. D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Hartley JA. Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J. 2001;38:455-467.
5. DeMarco AL, Munson B, Moller KT. Communicative profiles of children with velocardiofacial syndrome and research update. Presented at the annual meeting of the American Speech-Language-Hearing Association; 2004; Chicago, Illinois.
6. DeMarco AL, Munson B, Moller KT. Predictors of phonetic accuracy in children with 22q11.2 deletion syndrome and children with non-syndromic cleft palate or VPI. Presented at the annual meeting of the American Cleft Palate-Craniofacial Association; 2005; Myrtle Beach, South Carolina.
7. Devriendt K, Van Thienen M, Swillen A, Fryns J. Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. Dev Med Child Neurol. 1996;38:945-949.
8. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shiprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS. Deletions and microdeletions of 22q11.2 in velo-cardiofacial syndrome. Am J Med Genet. 1992;44:261-268.
9. Eliez S, Antonarakis SE, Morris MA, Dahoun SP, Reiss AL. Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Arch Gen Psychiatry. 2001a;58:64-68.
10. Eliez S, Blasey CM, Schmitt EJ, White CD, Hu D, Reiss AL. Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry. 2001b;158:447-453.
11. Eliez S, Schmitt JE, White CD, Reiss AL. Children and adolescents with velocardiofacial syndrome. Am J Psychiatry. 2000;157:409-415.
12. Feinstein C, Eliez S, Blasey C, Reiss AL. Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry. 2002;5:312-318.
13. Finkelstein Y, Zohar Y, Nachmani A, Talmi YP, Lerner MA, Hauben DJ, Frydman M. The otolaryngologist and the patient with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg. 1993;119:563-569.
14. Glaser B, Mumme DL, Blasey C, Morris MA, Dahoun SP, Antonarakis SE, Reiss AL, Eliez S. Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr. 2002;140:753-758.
15. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Velo-cardiofacial syndrome: a review of 120 patients. Am J Med Genet 1993;45:313-319.
16. Golding-Kushner KJ, Weller G, Shprintzen RJ. Velocardiofacial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol. 1985;5:259-266.
17. Hall PK, Hardy JC, LaVelle ME. A child with signs of developmental apraxia of speech with whom a palatal lift prosthesis was used to manage palatal dysfunction. J Speech Hear Dis. 1990;55:454-450.
18. Havkin N, Tatum SA, Shprintzen RJ. Velopharyngeal insufficiency and articulation impairment in velocardiofacial syndrome: the influence of adenoids on phonemic development. Int J Pediatric Otorhinolaryngol. 2000;54:103-110.
19. Hayden DA. Differential diagnosis of motor speech dysfunction in children. Clin Commun Disord. 1994;4:199-241.
20. Hickman LA. The Apraxia Profile. San Antonio: Communication Skill Builders; 1997.
21. Hultman CS, Riski JE, Cohen SR, Burstein FD, Boydston WR, Hudgins RJ, Grattan-Smith D, Uhas K, Simms C. Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome. Plast Reconstr Surg. 2000;106:16-24.
22. Kates WR, Burnette CP, Bessette BA, Folley BS, Strange L, Jabs EW, Pearlson GD. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol. 2004;19:337-342.
23. Kates WR, Burnette CP, Jabs EW, Rutberg J, Murphy AM, Grades M, Geraghty M, Kaufmann WE, Pearlson GD. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biol Psychiatry. 2001;49:677-684.
24. Kaufman NR. Kaufman Speech Praxis Test. Detroit: Wayne State University Press; 1995.
25. Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet. 1995;32:561-563.
26. McDonald-McGinn DM, La Rossa D, Goldmuntz E, Sullivan K, Eichier P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results: report on 181 patients. Genet Test. 1997;1:99-108.
27. Morrow B, Goldberg R, Carlson C, Gupta RD, Sirotkin H, Collins J, Dunham I, O'Donnell HO, Scambler P, Shprintzen RJ, Kucherlapati R. Molecular definition of the 22q11 deletions in velocardiofacial syndrome. Am J Hum Genet. 1995;56:1391-1403.
28. Perez E, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr. 2002;14:678-683.
29. Peterson-Falzone SJ. Speech disorders related to craniofacial structural defects: part 2. In: Lass NJ, McReynolds LV, Northern JL, Yoder DE, eds. Handbook of Speech-Language Pathology and Audiology. Toronto: BC Decker; 1988:477-547.
30. Ravnan JB, Chen E, Golabi M, Lebo RV. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet. 1996;66:250-256.
31. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Pieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dalapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielson K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798-804.
32. Scherer NJ, D'Antonio LL. Early speech and language development in children with velocardiofacial syndrome. Am J Med Genet. 1999;88:714-723.
33. Scrambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen RJ, Wilson DI, Goodship J, Cross IE, Burn J. Velocardiofacial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992;339:1138-1139.
34. Shprintzen RJ. Velocardiofacial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev. 2000;6:142-147.
35. Shprintzen RJ, Goldberg RB. The genetics of clefting and associated syndromes. In: Shprintzen RJ, Bardach J, eds. Cleft Palate Speech Management: A Multidisciplinary Approach. St. Louis: Mosby; 1995:16-43.
36. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velocardiofacial syndrome. Cleft Palate J. 1978;15:56-62.
37. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velocardiofacial syndrome: a clinical and genetic analysis. Pediatrics. 1981;67:167-172.
38. Shriberg LD, Aram DM, Kwiatkowski J. Developmental apraxia of speech: II. Toward a diagnostic marker. J Speech Lang Hear Res. 1997a;40:286-312.
39. Shriberg LD, Austin D, Lewis B, McSweeny J, Wilson D. The percentage of consonants correct (PCC) metric: extensions and reliability data. J Speech Lang Hear Res. 1997b;40:708-722.
40. van Amelsvoort T, Daly E, Henry J, Robertson D, Ng V, Owen M, Murphy KC, Murphy DG. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Arch Gen Psychiatry. 2004;61:1085-1096.
41. Yorkston KM, Spencer KA, Duffy JR, Beukelman DR, Golper LA, Miller RM, Strand EA, Sullivan M. Evidence-based practice guidelines for dysarthria: management of velopharyngeal function. J Med Speech Lang Pathol. 2001;9:257-273.