Academic Scientific JournalsDiagnosis and development of a child with holoprosencephaly in relations to the effects of an interdisciplinary approach. Study case
DOI:
https://doi.org/10.26881/ndps.2023.51.06%20Keywords:
holoprosencephaly, multiple disabilities, case study, speech therapy, physiotherapyAbstract
The article describes the therapeutic procedure applied to a child with multiple disabilities resulting from a rare genetic disease, holoprosencephaly. The text begins with a description of the types, symptoms, causes, treatment and prognosis of this brain defect, and then presents a case study of a 3.5-year-old child. Therapeutic treatment of children with holoprosencephaly is rarely explored in research. The main reason for the lack of reports in the scientific literature on this subject is their premature death.
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References
Al-Tubaikh J.A., Reiser M.F. (2009), Holoprosencephaly [w:] Congenital Diseases and Syndromes (s. 5–7), Springer-Verlag, Berlin, https://szukaj.bu.umk.pl/permalink/48OMNIS_ UMKWT/tpqpll/alma991016813167006926.
Barr Jr, M., Cohen Jr, M.M. (1999), Holoprosencephaly survival and performance, American Journal of Medical Genetics, 89(2): 116–120; https://szukaj.bu.umk.pl/permalink/ 48OMNIS_UMKWT/c5j2fe/cdi_proquest_miscellaneous_69275486.
Chen H. (2006), Holoprosencephaly [w:] Atlas of Genetic Diagnosis and Counseling, Humana Press, Totowa, New Jersey; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/ tpqpll/alma991016815832306926.
Dubourg C., Bendavid C., Pasquier L., Henry C., Odent S., David V. (2007), Holoprosencephaly, Orphanet Journal of Rare Diseases, 2(1): 8–8; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_doaj_primary_oai_doaj_org_article_476c6e27840 d4842a942372d09a3022c.
Dubourg C., Kim A., Watrin E., de Tayrac M., Odent S., David V., Dupé V. (2018), Recent advances in understanding inheritance of holoprosencephaly, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 178(2): 258–269; https://szukaj.bu.umk. pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_hal_primary_oai_HAL_hal_01812521v2.
Hahn J.S., Plawner L.L. (2004), Evaluation and management of children with holoprosencephaly, Pediatric Neurology, 31(2): 79–88; https://szukaj.bu.umk.pl/permalink/48OMNIS_ UMKWT/c5j2fe/cdi_proquest_miscellaneous_66781611.
Ionescu C.A., Calin D., Navolan D., Matei A., Dimitriu M., Herghelegiu C., Ples, L., (2018), Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review, Medicine, 97(29): e11521-e11521; https://szukaj.bu.umk.pl/permalink/ 48OMNIS_UMKWT/c5j2fe/cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov _6086508.
Javad H., Al-Yarubi S., Chacko A.P., Sankhla D., Al-Futasi A., Abdelmogheth A.A., ElNaggari M. (2013), Semilobar Holoprosencefalię z hipernatremią neurogeniczną: dwa nowe przypadki, Sultan Qaboos University Med J, 13(3): E463–466; https://szukaj.bu.umk.pl/ discovery/fulldisplay?docid=cdi_doaj_primary_oai_doaj_org_article_014ab3eedc204 bc6872dcf9a57e11643&context=PC&vid=48OMNIS_UMKWT:UMK&lang=pl&search_ scope=MyInst_and_CI&adaptor=Primo%20Central&tab=Everything&query=any, contains,Semilobar%20Holoprosencephaly%20javad&offset=0.
Kousa, Y.A., du Plessis, A. J., Vezina G. (2018), Prenatal diagnosis of holoprosencephaly, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 178(2): 206–213; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_proqu est_miscellaneous_2040766427.
Kruszka P., Muenke M. (2018), Syndromes associated with holoprosencephaly, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 178(2): 229–237; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_pubmedcentral_p rimary_oai_pubmedcentral_nih_gov_6125175.
Levey E.B., Stashinko E., Clegg, N.J., Delgado M.R. (2010), Management of children with holoprosencephaly, American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 154C(1): 183–190; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/ c5j2fe/cdi_proquest_miscellaneous_745977872.
Monteagudo A. (2020), Holoprosencephaly, American Journal of Obstetrics and Gynecology, 223(6): B13–B16; ttps://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/ cdi_proquest_miscellaneous_2459346992.
Nanni L., Croen L.A., Lammer E.J., Muenke M. (2000), Holoprosencephaly: Molecular study of a California Population, American Journal of Medical Genetics, 90(4): 15–-319; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_crossref_primary _10_1002__SICI_1096_8628_20000214_90_4_315__AID_AJMG10_3_0_CO_2_Y.
Orioli I.M., Castilla E.E. (2010), Epidemiology of holoprosencephaly: Prevalence and risk factors, American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 154C(1): 13–21; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_proquest _miscellaneous_745977729.
Respondek-Liberska M. (2009), Kardiomegalia u płodu [w:] M. Pietryga, J. Brązert (red.), Podstawy praktycznej ultrasonografii w ginekologii i położnictwie ( s. 697–704), Exemplum, Poznań.
Roessler E., Muenke M. (2010), The molecular genetics of holoprosencephaly, American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 154C(1): 52–61; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_pubmedcentral_ primary_oai_pubmedcentral_nih_gov_2815021.
Sarica C., Yucetas C., Ozen A., Ucler N., Konca C., Akar S. (2018), Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion, Pediatric neurosurgery, 53(5): 337–341; https://szukaj.bu.umk.pl/permalink/48OMNIS_UMKWT/ c5j2fe/cdi_karger_primary_489856.
Sarwar M. (1985), Holoprosencephaly [w:] Computed tomography of congenital brain malformations, Warren H. Green, Inc.; https://szukaj.bu.umk.pl/permalink/48OMNIS_ UMKWT/tpqpll/alma991016772394406926.
Solomon B.D., Mercier S., Vélez J.I., Pineda-Alvarez D. E., Wyllie A., Zhou N., Dubourg C., David V., Odent, S., Roessler E., Muenke M. (2010), Analysis of genotype-phenotype correlations in human holoprosencephaly, American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 154C(1): 133–141; https://szukaj.bu.umk.pl/permalink/ 48OMNIS_UMKWT/c5j2fe/cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov _2815217.
Solomon B.D., Pineda-Alvarez D.E., Mercier S., Raam M.S., Odent S., Muenke M. (2010), Holoprosencephaly flashcards: A summary for the clinician, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics”, 154C(1): 3–7; https://szukaj.bu.umk. pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_hal_primary_oai_HAL_inserm_00462060v1.
Stashinko E.E., Clegg, N.J., Kammann H.A., Sweet V.T., Delgado M.R., Hahn J.S., Levey E.B. (2004), A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly, American Journal of Medical Genetics, 128A(2): 114–119; https://szukaj. bu.umk.pl/permalink/48OMNIS_UMKWT/c5j2fe/cdi_proquest_miscellaneous_66646241.
Weiss K., Kruszka P.S., Levey E, Muenke M. (2018), Holoprosencephaly from conception to adulthood, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics”, 78(2): 122–127.
Virta M., Launes J., Valanne L., Hokkanen L. (2016), Adult with Middle Interhemispheric Variant of Holoprosencephaly: Neuropsychological, Clinical, and Radiological Findings, Archives of Clinical Neuropsychology, 31(5): 472–479; https://szukaj.bu.umk.pl/permalink/ 48OMNIS_UMKWT/c5j2fe/cdi_proquest_miscellaneous_1815704079.
