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


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.


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

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

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.

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.

Baud, O., et al. (1999). Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clinical Genetics, 55, 478–82.

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.

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.

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

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.

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

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

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

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

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

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.

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.

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


Published : 2021-12-31

BinkuńskaE. (2021). Development and disordres in the process of communication of people with the chromosome 13q deletion syndrome. Logopedia Silesiana, 10(2), 1-9.

Ewa Binkuńska 
University of Gdansk  Poland

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