TY  - 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 . .

TY  - JOUR
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Stevanović, Milena
AU  - Jovanović, Ida
AU  - Dobrijević, Ljiljana Jelicic
AU  - Mijović, Marija
AU  - Drakulić, Danijela
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/968
AB  - The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.
PB  - Društvo genetičara Srbije, Beograd
T2  - Genetika-Belgrade
T1  - Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome
EP  - 72
IS  - 1
SP  - 57
VL  - 48
DO  - 10.2298/GENSR1601057R
ER  - 

@article{
author = "Rakonjac, Marijana and Cuturilo, Goran and Stevanović, Milena and Jovanović, Ida and Dobrijević, Ljiljana Jelicic and Mijović, Marija and Drakulić, Danijela",
year = "2016",
abstract = "The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72-94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.",
publisher = "Društvo genetičara Srbije, Beograd",
journal = "Genetika-Belgrade",
title = "Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome",
pages = "72-57",
number = "1",
volume = "48",
doi = "10.2298/GENSR1601057R"
}

Rakonjac, M., Cuturilo, G., Stevanović, M., Jovanović, I., Dobrijević, L. J., Mijović, M.,& Drakulić, D.. (2016). Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome. in Genetika-Belgrade
Društvo genetičara Srbije, Beograd., 48(1), 57-72.
https://doi.org/10.2298/GENSR1601057R

Rakonjac M, Cuturilo G, Stevanović M, Jovanović I, Dobrijević LJ, Mijović M, Drakulić D. Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome. in Genetika-Belgrade. 2016;48(1):57-72.
doi:10.2298/GENSR1601057R .

Rakonjac, Marijana, Cuturilo, Goran, Stevanović, Milena, Jovanović, Ida, Dobrijević, Ljiljana Jelicic, Mijović, Marija, Drakulić, Danijela, "Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome" in Genetika-Belgrade, 48, no. 1 (2016):57-72,
https://doi.org/10.2298/GENSR1601057R . .