Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion
Samo za registrovane korisnike
2016
Autori
Rakonjac, MarijanaCuturilo, Goran
Stevanović, Milena
Jelicić, Ljiljana
Subotić, Misko
Jovanović, Ida
Drakulić, Danijela
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
Background: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. Aims: The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. Methods and procedures: We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. Outcomes and results: The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to c...hildren from the control group. Conclusions and implications: The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development.
Ključne reči:
Speech and language delay / Congenital heart malformations / 5-10 year old children / 22q11.2DSIzvor:
Research in Developmental Disabilities, 2016, 55, 322-329Izdavač:
- Pergamon-Elsevier Science Ltd, Oxford
Finansiranje / projekti:
- Proučavanje signalnih puteva i epigenetičkih mehanizama uključenih u kontrolu ekspresije humanih SOX gena: dalje rasvetljavanje njihove uloge u određivanju sudbine i diferencijaciji ćelija (RS-MESTD-Basic Research (BR or ON)-173051)
- Interdisciplinarna istraživanja kvaliteta verbalne komunikacije (RS-MESTD-Basic Research (BR or ON)-178027)
DOI: 10.1016/j.ridd.2016.05.006
ISSN: 0891-4222
PubMed: 27235769
WoS: 000378455100029
Scopus: 2-s2.0-84969835097
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Rakonjac, Marijana AU - Cuturilo, Goran AU - Stevanović, Milena AU - Jelicić, Ljiljana AU - Subotić, Misko AU - Jovanović, Ida AU - Drakulić, Danijela PY - 2016 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/939 AB - Background: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. Aims: The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. Methods and procedures: We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. Outcomes and results: The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. Conclusions and implications: The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development. PB - Pergamon-Elsevier Science Ltd, Oxford T2 - Research in Developmental Disabilities T1 - Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion EP - 329 SP - 322 VL - 55 DO - 10.1016/j.ridd.2016.05.006 ER -
@article{ author = "Rakonjac, Marijana and Cuturilo, Goran and Stevanović, Milena and Jelicić, Ljiljana and Subotić, Misko and Jovanović, Ida and Drakulić, Danijela", year = "2016", abstract = "Background: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. Aims: The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. Methods and procedures: We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. Outcomes and results: The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. Conclusions and implications: The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development.", publisher = "Pergamon-Elsevier Science Ltd, Oxford", journal = "Research in Developmental Disabilities", title = "Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion", pages = "329-322", volume = "55", doi = "10.1016/j.ridd.2016.05.006" }
Rakonjac, M., Cuturilo, G., Stevanović, M., Jelicić, L., Subotić, M., Jovanović, I.,& Drakulić, D.. (2016). Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion. in Research in Developmental Disabilities Pergamon-Elsevier Science Ltd, Oxford., 55, 322-329. https://doi.org/10.1016/j.ridd.2016.05.006
Rakonjac M, Cuturilo G, Stevanović M, Jelicić L, Subotić M, Jovanović I, Drakulić D. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion. in Research in Developmental Disabilities. 2016;55:322-329. doi:10.1016/j.ridd.2016.05.006 .
Rakonjac, Marijana, Cuturilo, Goran, Stevanović, Milena, Jelicić, Ljiljana, Subotić, Misko, Jovanović, Ida, Drakulić, Danijela, "Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion" in Research in Developmental Disabilities, 55 (2016):322-329, https://doi.org/10.1016/j.ridd.2016.05.006 . .