Development and disordres in the process of communication of people with the chromosome 13q deletion syndrome

Ewa Binkuńska

doi:10.31261/LOGOPEDIASILESIANA.2021.10.02.05

Published: 2021-12-31

Vol. 10 No. 2 (2021)

Development and disordres in the process of communication of people with the chromosome 13q deletion syndrome

Ewa Binkuńska

Section: Articles

https://doi.org/10.31261/LOGOPEDIASILESIANA.2021.10.02.05

Abstract

Chromosome 13q deletion syndrome is a kind of chromosome aberration which belongs to rarely occurring genetic abnormalities. Chromosome 13q deletion results in phenotypic disorders such as malfunctions in the central nervous system, anatomical changes of the body, as well as disorders in large and small motor skills. One of the possible consequences of the problems in motor skills development are speech development disorders, particularly concerning speech production. Other problems may relate to breathing, phonation and articulation. Additionally, on the one hand, some persistent reflexes in the orofacial area can be observed, while, on the other hand, some reflexes are absent. In the case of chromosome 13q deletion, the logopedic therapy contains also swallowing, as well as exercises which aim at improving the muscle tension in the area of face, articulators, neck, shoulders, chest and upper limbs. Disorders in speech production may take form of dysarthria, for example. Whereas, learning to communicate may require to introduce alternative communication – non-verbal communication within language production.

Keywords:

speech development , speech disorders , dysarthria , chromosome 13q deletion

Download files

PDF

Citation rules

Binkuńska, E. (2021). Development and disordres in the process of communication of people with the chromosome 13q deletion syndrome. Logopedia Silesiana, 10(2), 1–9. https://doi.org/10.31261/LOGOPEDIASILESIANA.2021.10.02.05

Cited by / Share

References

Allderdice, et al. (1969). The 13q-deletion syndrome. The American Journal of Human Genetics, 21, 499–512.
Google Scholar

Amor, D.J., Voullaire, L., Bentley, K., Savarirayan, R., & Choo, K.H. (2005). Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1–13q32.3. The American Journal of Human Genetics, 133A, 151–157.
Google Scholar

Ballarati, L., et al. (2007), 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients. Journal of Medical Genetics, 44(1), e60. DOI: 10.1136/jmg.2006.043059.
Google Scholar

Baud, O., et al. (1999). Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clinical Genetics, 55, 478–82. https://doi.org/10.1034/j.1399-0004.1999.550614.x.
Google Scholar

Binkuńska, E. (2008). Konwencjonalne i niekonwencjonalne metody stymulowania rozwoju mowy na przykładzie dziecka z delecją chromosomową. Rocznik Naukowy Kujawsko-Pomorskiej Szkoły Wyższej w Bydgoszczy. Transdyscyplinarne Studia o Kulturze (i) Edukacji, 3, 123–126.
Google Scholar

Binkuńska, E. (2010). Zaburzenia mowy i jakość życia na przykładzie osób z delecją chromosomową. In: K. Baranowicz, A. Sobczak, M. Znajmiecka-Sikora (eds.), Rozwój i jego wspieranie w perspektywie nauk o człowieku – teoria i rozwiązania praktyczne (pp. 123–128). Łódź: Pracownia Pedagogiki Specjalnej WnoW UŁ.
Google Scholar

Binkuńska, E. (2013), Communicative abilities of people with the chromosome 13q deletion syndrome. Journal of Education and Science. Pedagogy. Psychology. Medicine, 63–71.
Google Scholar

Jastrzębowska, G. (2003). Zaburzenia dysartryczne u dzieci. In: T. Gałkowski, G. Jastrzębowski (eds.), Logopedia – pytania i odpowiedzi. Podręcznik akademicki. Tom 2: Zaburzenia komunikacji językowej u dzieci i osób dorosłych (pp. 120–142). Opole: Wydawnictwo Uniwersytetu Opolskiego.
Google Scholar

Kasyan, A.G., & Benirschke, K. (2005). Genetic haploinsufficiency as phenotypic determinant of a deletion 13q syndrome. Pediatric and Developmental Pathology, 8, 658–665.
Google Scholar

Matsunaga, E. (1980). Retinoblastoma: host resistance and 13q-chromosomal deletion. Human Genetics, 56(1), 53–8.
Google Scholar

Mitrinowicz-Modrzejewska, A. (1963). Fizjologia i patologia głosu, słuchu i mowy. Rozpoznanie, leczenie i rehabilitacja. Warszawa: PZWL.
Google Scholar

Moore, K.L., Persaud, T.V.N., & Torchia, M.G. (2013). Before we are born. Essentials of embryology and birth defects. Philadelphia: Saunders-Elsevier.
Google Scholar

Pecyna, S.M.B. (2000). Dziecko i jego choroba. Warszawa: Żak.
Google Scholar

Rządzka, M. (2011). Przyczyna kształtowania się dysfunkcji oddychania. In: E.M. Skorek, M. Rządzka (eds.), Profilaktyka i terapia dysfunkcji oddechowych u dzieci (pp. 23–24). Zielona Góra: Oficyna Wydawnicza Uniwersytetu Zielonogórskiego.
Google Scholar

Tłokiński, W. (2005). Zaburzenia mowy o typie dysartrii. In: T. Gałkowski, E. Szeląg, G. Jastrzębowska (eds.), Podstawy neurologopedii. Podręcznik akademicki (pp. 907–929). Opole: Wydawnictwo Uniwersytetu Opolskiego.
Google Scholar

Tobias, E.S., Connor, M., & Ferguson-Smith, M. (2011). Essential Medical Genetics, 6th Edition. Wiley-Blackwell.
Google Scholar

Vol. 10 No. 2 (2021)
Published: 2022-03-30

ISSN: 2300-5246

eISSN: 2391-4297

10.31261/LOGOPEDIASILESIANA

Publisher

Wydawnictwo Uniwersytetu Śląskiego | University of Silesia Press

Submit

Development and disordres in the process of communication of people with the chromosome 13q deletion syndrome

Abstract

Keywords:

Ewa Binkuńska

Language