Prikaz utjecaja sindromskih orofacijalnih rascjepa na komunikacijski i jezično-govorni razvoj djeteta

master's thesis

• Title (english): The impact of syndromic orofacial clefts on communication, speech and language development in children
• Author: Valentina Kasalo
• Mentor: Draženka Blaži (mentor)
• Committee member: Draženka Blaži (predsjednik povjerenstva)
• Committee member: Blaženka Brozović (član povjerenstva)
• Committee member: Ana Leko Krhen (član povjerenstva)
• Granter: University of Zagreb; Faculty of Education and Rehabilitation Sciences; Zagreb
• Defense date and country: 2022-06-30, Croatia
• Scientific / art field, discipline and subdiscipline: SOCIAL SCIENCES; Speech Therapy

Abstract

Orofacijalni rascjepi ubrajaju se među najučestalije malformacije glave i vrata, a mogu zahvatiti usnu, alveolarni greben, tvrdo i meko nepce. Postoje dva tipa orofacijalnih rascjepa: sindromski i nesindromski rascjepi. Nesindromski rascjepi javljaju se kao izolirana teškoća, bez popratnih malformacija. Nasuprot tomu, sindromski orofacijalni rascjepi dio su multianomalijskih genetskih sindroma i dolaze u kombinaciji s anomalijama drugih organskih sustava. Poznato je oko 720 genetskih sindroma koji u sklopu kliničke slike imaju rascjepe, a većina njih izrazito je rijetka (Jagomägi, 2012). Cilj ovog rada je prikazati utjecaj sindromskih orofacijalnih rascjepa na komunikacijski i jezično-govorni razvoj djeteta. U radu je ukratko objašnjeno kako se odvija uredan komunikacijski i jezični-govorni razvoj, na koji način nastaju orofacijalni rascjepi te kako mogu utjecati na komunikaciju, jezik i govor. Na temelju unaprijed postavljenih kriterija, izabrani su sljedeći genetski sindromi: sindrom delecije 22q11.2, Cornelia de Lange sindrom, Apertov sindrom, Treacher Collins sindrom, Dubowitz sindrom i Van der Woude sindrom. Svaki od njih ukratko je opisan, a pregledom dostupne znanstvene literature prikupljeni su podaci o utjecaju orofacijalnog rascjepa i ostalih anomalija povezanih s pojedinim sindromom na komunikacijski i jezično-govorni razvoj djeteta.

Abstract (english)

Orofacial clefts are considered the most common head and neck area malformations that can affect the lip, the alveolar bone, the hard palate and the soft palate. There are two types of orofacial clefts: syndrome related clefts and non-syndromic clefts. Non-syndromic clefts occur as an isolated anomaly, without any other malformations. On the other hand, syndromic clefts occur as one component of multiple congenital anomaly syndromes. There are about 720 known congenital syndromes associated with orofacial clefts, but the majority of them are very rare (Jagomägi, 2012). The aim of this paper is to identify syndromic orofacial clefts' influence on communication, speech and language development in young children. This paper briefly describes the milestones of typical communication, language and speech development, it explains how orofacial clefts occur and what is their potential effect on the childs’ development of communicaton, speech and language. Based on previously formed criteria, six genetic syndromes were chosen: 22q11.2 deletion syndrome, Cornelia de Lange syndrome, Apert syndrome, Treacher Collins syndrome, Dubowitz syndrome i Van der Woude syndrome. Each of them is briefly described. Based on the available scientific literature, the impact of cleft and additional anomalies of each syndrome on communication, speech and language development in children is discussed.

• Keywords: orofacijalni rascjep; sindromski rascjep usne i/ili nepca; komunikacijski razvoj; jezični razvoj; govorni razvoj
• Keywords (english): orofacial cleft; syndromic cleft lip and palate; communication development; language development; speech development
• Language: croatian
• URN:NBN: urn:nbn:hr:158:165963
• Study programme: Title: Graduate study of Speech and Language Pathology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra logopedije (magistar/magistra logopedije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-08-31 13:39:37