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Communication Profiles of Two Children with Pitt-Hopkins Syndrome

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Abstract

This research provides detailed summaries of the diverse communication skills of two children with Pitt-Hopkins Syndrome. One participant had level III Communication Matrix skills (unconventional communication), and was pre-symbolic, pre-intentional, non-imitative, and reliant upon others to interpret her proximal actions. The other participant had level IV (conventional communication) and V (concrete symbols) Communication Matrix skills, with emerging symbolic forms, some imitation, and directedness to his proximal and distal actions. Results are discussed in comparison to other children with severe disabilities.

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References

  • Ardinger, H.H., Welsh, H.I., & Saunders, C.J. (2012). Pitt-Hopkins Syndrome. Retrieved 2/14/14 from http://www.ncbi.nlm.nih.gov/books/NBK100240/

  • Bruce, S. M. (2010). Holistic communication profiles for children who are deaf-blind. AER Journal: Research and Practice in Visual Impairment and Blindness, 3(3), 106–110.

    Google Scholar 

  • Brady, N. C., Fleming, K., Thiemann-Bourque, K., Olswang, L., Dowden, P., Saunders, M. D., & Marquis, J. (2012). Development of the communication complexity scale. American Journal of Speech-Language Pathology, 21(1), 16–28.

    Article  PubMed Central  PubMed  Google Scholar 

  • Cascella, P. W. (2005). The expressive communication strengths of adults with severe to profound intellectual disability as reported by group home staff. Communication Disorders Quarterly, 26(3), 156–163.

    Article  Google Scholar 

  • Didden, R., Sigafoos, J., Korzilius, H., Baas, A., Lancioni, G., O’Reilly, M., & Curfs, L. (2009). Form and function of communicative behaviours in individuals with Angelman Syndrome. Journal of Applied Research in Intellectual Disabilities, 22(6), 526–537.

    Article  Google Scholar 

  • Giurgea, I., Missirian, C., Cacciagli, P., Whalen, S., Fredriksen, T., Gaillon, T., & Rankin, J. (2008). TCF4 deletions in Pitt-Hopkins syndrome. Human Mutation, 29(11), 242–251.

    Article  Google Scholar 

  • Inati, A., Abbas, H. A., Korjian, S., Daabout, Y., Harajelly, M., & Saab, R. (2012). A case of Pitt-Hopkins syndrome with absence of hyperventilation. Journal of Child Neurology, 28(12), 1698–1701.

    Article  PubMed  Google Scholar 

  • McLean, L., Brady, N., McLean, J., & Behrens, G. (1999). Communication forms and functions of children and adults with severe mental retardation in community and institutional settings. Journal of Speech, Language, Hearing Research, 42, 231–240.

    PubMed  Google Scholar 

  • Marangi, G., Ricciardi, S., Orteschi, D., Lattante, S., Murdolo, M., Dallapiccola, B., & Biscione, C. (2011). The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. American Journal of Medical Genetics Part A, 155A(7), 1536–1545.

    Article  PubMed  Google Scholar 

  • Peippo, M., & Ignatius, J. (2012). Pitt-Hopkins syndrome. Molecular Syndromology, 2(3–5), 171–180.

    PubMed Central  PubMed  Google Scholar 

  • Rowland, C. (2011). Using the communication matrix to assess expressive skills in early communicators. Communication Disorders Quarterly, 32(3), 190–201.

    Article  Google Scholar 

  • Rowland, C. (2014). The communication matrix. Portland: Design-to-Learn.

    Google Scholar 

  • Rossi, M., Labalme, A., Cordier, M. P., Till, M., Blanchard, G., Dubois, R., Guibaud, L., et al. (2012). Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report. American Journal of Medical Genetics. Part A, 158A(12), 3174–3181.

    Article  PubMed  Google Scholar 

  • Sweatt, J. D. (2013). Pitt-Hopkins syndrome: intellectual disability due to loss of TCF-4 regulated gene transcription. Experimental & Molecular Medicine, 45(5), e21.

    Article  Google Scholar 

  • Takano, K., Lyons, M., Moyes, C., Jones, J., & Schwartz, C. E. (2010). Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clinical Genetics, 78, 282–288.

    Article  PubMed  Google Scholar 

  • Taddeucci, G., Bonuccelli, A., Mantellassi, I., Orsini, A., & Tarantino, E. (2010). Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. Italian Journal of Pediatrics, 36, 12.

    Article  PubMed Central  PubMed  Google Scholar 

  • United States National Library of Medicine (2014). Pitt-Hopkins Syndrome. Retrieved 2/14/14 from http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome

  • Van Balkom, I. D. C., Vuijk, P. J., Franssens, M., Hoek, H. W., & Hennekam, R. C. M. (2012). Development, cognition, and behavior in Pitt-Hopkins syndrome. Developmental Medicine & Child Neurology, 54(10), 925–931.

    Article  Google Scholar 

  • Whalen, S., Heron, D., Gaillon, T., Moldovan, O., Rossi, M., Devillard, F., & Giuliano, F. (2012). Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Human Mutation, 33(1), 64–72.

    Article  PubMed  Google Scholar 

  • Zweirer, C., Peippo, M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., et al. (2007). Haploin sufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). The American Journal of Human Genetics, 80(5), 994–1001.

    Article  Google Scholar 

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Correspondence to Paul W. Cascella.

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Cascella, P.W., Bruce, S.M. & Trief, E. Communication Profiles of Two Children with Pitt-Hopkins Syndrome. J Dev Phys Disabil 26, 473–478 (2014). https://doi.org/10.1007/s10882-014-9381-5

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  • DOI: https://doi.org/10.1007/s10882-014-9381-5

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