CASE STUDY OF GIRL WITH CORNELIA DE LANGE SYNDROME

Česká verzia

Authors: Fábianová Adelaida ^1,2; Frajková Žofia ^3,4,5; Tedla Miroslav ⁴
Authors place of work: AXIS International Rehabilitation Center, Kúpeľný ostrov 3605/34, Piešťany 921 29, Slovensko. E-mail: fabianova. adelaida@gmail. com. ¹; Lekárska fakulta UK, Špitálska 24, 813 72 Bratislava, Slovenská republika. ²; Fakultná nemocnica Trnava, Neurologické oddelenie, Andreja Žarnova 11, 917 75 Trnava, Slovenská republika. ³; MPH Klinika otorinolaryngológie a chirurgie hlavy a krku LFUK a UNB Bratislava, Univerzitná nemocnica Bratislava ⁴; Katedra logopédie Pedagogická fakulta Univerzity Komenského v Bratislave, Račianska 59, 813 34 Bratislava, Slovenská republika. ⁵; Nemocnica sv. Cyrila a Metoda, Antolská 11, 81 07 Bratislava, Slovenská republika. ⁵
Published in the journal: Listy klinické logopedie 2023; 7(1): 27-30
Category: Main topic
doi: https://doi.org/10.36833/lkl.2023.010

Summary

Cornelia de Lange Syndrome is a genetic syndrome with manifestations in the somatic, cognitive and perceptual areas. It is characterised by interindividual differences among patients with this diagnosis. Impairments include vision and hearing impairments, behavioural disorders and impairment of communication skills. The presented case report presents the characteristics of Cornelia de Lange Syndrome from the point of view of a clinical Speech and Language Therapist. It adds to the professional literature on clinical Speech Therapy procedures used in the therapy of impaired communication skills and in the feeding and swallowing disorder.

Keywords:

eating disorders – speech and language therapy – Cornelia de Lange – genetic syndrome – case report of impaired communication skills – altered muscle tension

Zdroje

BERNEY, T. P., IRELAND, M., BURN, J., 1999. Behavioural phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood. 81(4), s. 333-336. DOI: 10.1136/adc.81.4.333.

BOYLE, M. i., JESPERSGAARD, C., BRØNDUM-NIELSEN, K., BISGAARD, A.-M., TÜMER, Z. 2015a. Cornelia de Lange syndrome. Clinical Genetics. 88(1), s. 1-12. DOI: 10.1111/cge.12499.

BOYLE, M. i., JESPERSGAARD, C., BRØNDUM-NIELSEN, K., BISGAARD, A.-M., TÜMER, Z., 2015b. Cornelia de Lange syndrome. Clinical Genetics. 88(1), s. 1-12. DOI: 10.1111/cge.12499.

DEARDORFF, M. A., NOON, S. E., KRANTZ, I. D., 1993. Cornelia de Lange Syndrome. V M. P. Adam, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. Bean, K. W. Gripp, & A. Amemiya (Ed.), GeneReviews®. University of Washington, Seattle. Dostupné z: http://www.ncbi.nlm.nih.gov/books/NBK1104/

HYMAN, P., OLIVER, C., HALL, S., 2002. Self-Injurious Behavior, Self-Restraint, and Compulsive Behaviors in Cornelia de Lange Syndrome. American Journal on Mental Retardation. 107(2), s. 146-154. DOI: 10.1352/0895-8017(2002)107 <0146:SIBSRA>2.0.CO;2

KRANTZ, I. D., MCCALLUM, J., DESCIPIO, C., KAUR, M., GILLIS, L. A., YAEGER, D., JUKOFSKY, L., WASSERMAN, N., BOTTAMI, A., MORRIS, C. A., NOWACZYK, M. J. M., TORIELLO, H., BAMSHAD, M. J., CAREY, J. C., RAPPAPORT, E., KAWAUCHI, S., LANDER, A. D., CALOF, A. L., LI, H.-H., DEVOTO, M., JACKSON, L. G. (2004). Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics. 36(6), s. 631-635. DOI: 10.1038/ng1364.

KRANTZ, I. D., TONKIN, E., SMITH, M., DEVOTO, M., BOTTANI, A., SIMPSON, C., HOFREITER, M., ABRAHAM, V., JUKOFSKY, L., CONTI, B. P., STRACHAN, T., JACKSON, L., 2001. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. American Journal of Medical Genetics. 101(2), s. 120-129.

NOÉ, O., 1964. Amsterdam Dwarfs: Four Cases of Typus Degenerativus Amstelodamensis. Clinical Pediatrics. 3(9), s. 541-549. DOI: 10.1177/000992286400300911.

OLIVER, C., ARRON, K., SLONEEM, J., HALL, S., 2008. Behavioural phenotype of Cornelia de Lange syndrome: Case–control study. The British Journal of Psychiatry. 193(6), s. 466-470. DOI: 10.1192/bjp.bp.107.044370.

WENGER, T. L., CHOW, P., RANDLE, S. C., ROSEN, A., BIRGFELD, C., WREDE, J., JAVID, P., KING, D., MANH, V., HING, A. V., ALBERS, E., 2017. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome. American Journal of Medical Genetics Part A. 173(2), s. 414-420. DOI: 10.1002/ ajmg.a.38030.