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Journal of Autism and Developmental Disorders

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18-08-2020 | Original Paper

An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome

Auteurs: Carlos Alberto Serrano-Juárez, Belén Prieto-Corona, Mario Rodríguez-Camacho, Carlos Alberto Venegas-Vega, Ma. Guillermina Yáñez-Téllez, Juan Silva-Pereyra, Hermelinda Salgado-Ceballos, Natalia Arias-Trejo, Miguel Angel De León Miranda

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2021

Abstract

An explanation for the social dysfunction observed in Williams syndrome may be deficits in social cognition. This study explored aspects of social cognition in children with Williams syndrome with different genotypes. The 12 participants included one with a 1.1 Mb deletion that retained the GTF2IRD1, GTF2I, and GTF2IRD2 genes, seven with a 1.5 Mb deletion that preserved the GTF2IRD2 gene, and four with a 1.8 Mb deletion with loss of all three genes. The participant retaining all three genes was found to have better performance on social judgment and first-order theory of mind tasks than the group with loss of all three genes. These results may reflect the influence of the GTF2I gene family on social cognition in Williams syndrome.

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Adolphs, R. (2001). The neurobiology of social cognition. Current Opinion in Neurobiology, 11(2), 231–239. https://doi.org/10.1016/s0959-4388(00)00202-6.CrossRefPubMed

Adolphs, R. (2009). The social brain: neural basis of social knowledge. Annual Review of Psychology, 60, 693–716. https://doi.org/10.1146/annurev.psych.60.110707.163514.CrossRefPubMedPubMedCentral

Amadó, A., Benejam, B., Mezuca, J., Serrat, E., & Vallès-Majoral, E. (2012). Socio-cognitive abilities in children with Down’s syndrome: results of a preliminary study. Medical Review on Down’s Syndrome., 16(3), 34–39.CrossRef

Andrés-Roqueta, C. (2009). Pragmática y Cognición social en niños y niñas con Trastorno específico del lenguaje (TEL). (Doctorado), Universitat Jaume I de Castelló, Castellón.

Antonell, A., Del Campo, M., Magano, L., Kaufmann, L., Martínez de la Iglesia, J., Gallastegui, F., et al. (2010). Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. Journal of Medical Genetics, 47, 312–320. https://doi.org/10.1136/jmg.2009.071712.CrossRefPubMed

Atlas, A. H. B. (2010). Allen Institute for Brain Science. Retrieved from human.brain-map.org

Bellugi, U., Lichtenberger, L., Mills, D., Galaburda, A., & Korenberg, J. (1999). Briding cognition, the brain and molecular genetics: evidence from Williams syndrome. Trends in Neurosciences, 22, 197–207.CrossRef

Bellugi, U., et al. (2007). Affect, social behavior, and the brain in Williams syndrome. Current directions in psychological science, 16(2), 99–104.CrossRef

Borg, I., Delhanty, J. D., & Baraitser, M. (1995). Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. Journal of medical genetics, 32(9), 692–696.CrossRef

Butman, J. (2001). La cognición social y la corteza cerebral. Revista Neurológica Argentina, 26, 117–122.

Campos, R., & Martínez-Castilla Sotillo, M. (2014). Cognición social en el síndrome de Williams. Revista de Psicología Social: International Journal of Social Psychology, 28(3), 249–360.

Chailangkarn, T., Trujillo, C. A., Freitas, B. C., Hrvoj-Mihic, B., Herai, R. H., Diana, X. Y., et al. (2016). A human neurodevelopmental model for Williams syndrome. Nature, 536(7616), 338–343.CrossRef

Chailangkarn, T., Noree, C., & Muotri, A. R. (2018). The contribution of GTF2I haploinsufficiency to Williams syndrome. Molecular and cellular probes, 40, 45–51.CrossRef

Crawford, J. R., & Howell, D. C. (1998). Comparing an Individual´s Test Score Against Norms Derived from Small Samples. The Clinical Neuropsychologist, 12(4), 482–486. https://doi.org/10.1076/clin.12.4.482.7241.CrossRef

Crespi, B. J., & Hurd, P. L. (2014). Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy popoulation. BMC Neuroscience. https://doi.org/10.1186/s12868-014-0127-1.CrossRefPubMedPubMedCentral

Dai, L., Bellugi, U., Chen, X., Pulst-Korenberg, A. M., Järvinen-Pasley, A., Tirosh-Wagner, T., et al. (2008). Is it Williams Syndrome? GTF2IRD1 Implicated in Visual-Spatial Construction and GTF2I in sociability revealed by high resolution arrays. American Journal of Medical Genetics, 149A, 302–314.CrossRef

Dunn, O. J. (1964). Multiple comparisons using rank sums. Technometrics, 6, 241–252.CrossRef

Ekman, P., Friesen, W., & Press, C. (1976). Pictures of facial affect (Vol. 21). Palo Alto CA: Consulting Psychologists Press.

Ferrero, G., Howald, C., Micale, L., Biamino, E., Augello, B., Fusco, C., et al. (2010). An atypical 7q11.23 deletion normal IQ Williams-Beuren syndrome patient. European Jorunal of Human Genetics, 18, 33–38.CrossRef

Fisher, M. H., & Morin, L. (2017). Addressing social skills deficits in adults with Williams syndrome. Research in developmental disabilities, 71, 77–87.CrossRef

Gagliardi, C., Frigerio, E., Burt, M., Cazzaniga, I., Perrett, D., & Borgatti, R. (2003). Facial expression recognition in Williams syndrome. Neuropsychologia, 41(6), 733–738. https://doi.org/10.1016/S0028-3932(02)00178-1.CrossRefPubMed

Happé, F. (1994). An advanced test of theory of mind: understanding of story characters´ thoughts and feelings by able autistic, mentally handicapped, and normal children and adults. Journal of Autism and Developmental Disorders, 24(2), 129–154.CrossRef

Hernández Galván, A., & Yáñez-Téllez, M. G. (2003). Evaluación de la cognición social en adultos mayores: presentación de la batería COGSOC-AM (pp. 269–278). XXII: Revista Argentina de Clínica Psicológica.

Hirota, H., Matsuoka, R., Chen, X.-N., Salandanan, L., Lincoln, A., Rose, F., et al. (2003). Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q1123. Genet Med, 5(4), 311–321. https://doi.org/10.1097/01.GIM.0000076975.10224.67.CrossRefPubMed

Hoeft, F., Dai, L., Haas, B. W., Sheau, K., Mimura, M., Mills, D., et al. (2014). Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome. PLoS ONE, 9(8), e104088.CrossRef

Järvinen, A., Crivelli, D., Arnold, A., Woo-Von Hoogenstyn, N., & Bellugi, U. (2015). Relations between social-perceptual ability in multi and unisensory context, autonomic reactivity, and social functioning in individuals with Williams syndrome. Neuropsychologia, 73, 127–140.CrossRef

Järvinen, A., Korenberg, J., & Bellugi, U. (2013). The social phenotype of Williams syndrome. Current Opinion in Neurobiology, 23, 414–422. https://doi.org/10.1016/j.conb.2012.12.006.CrossRefPubMedPubMedCentral

Järvinen-Pasley, A., Bellugi, U., Reilly, J., Mills, D., Galaburda, A., Reiss, A., et al. (2008). Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior. Development and Psychopathology, 20, 1–35. https://doi.org/10.1017/S0954579408000011.CrossRefPubMedPubMedCentral

Karmiloff-Smith, A., Broadbent, H., Farran, E., Longhi, E., D´Souza, D., Metcalfe, K., et al. (2012). Social cognition in Williams Syndrome: genotype/phenotype insights from partial deletion patients. Frontiers in Psychology. https://doi.org/10.3389/fpsyg.2012.00168.CrossRefPubMedPubMedCentral

Karmiloff-Smith, A., Klima, E., Bellugi, U., Grant, J., & Baron-Cohen, S. (1995). Is There a Social Module? Language, Face Processing, and Theory of Mind in Individuals with Williams Syndrome. Journal of Cognitive Neuroscience, 7(2), 196–208. https://doi.org/10.1162/jocn.1995.7.2.196.CrossRefPubMed

Kopp, N., McCullough, K., Maloney, S. E., & Dougherty, J. D. (2019). Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models. Human molecular genetics, 28(20), 3443–3465.CrossRef

Kovas, Y., & Plomin, R. (2006). Generalist genes: implications for the cognitive sciences. Trends in cognitive sciences, 10(5), 198–203.CrossRef

Lalli, M. A., Jang, J., Park, J. H. C., Wang, Y., Guzman, E., Zhou, H., et al. (2016). Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. Human molecular genetics, 25(7), 1294–1306.CrossRef

Laerd Statistics (2015). Kruskal-Wallis H test using SPSS Statistics. Statistical tutorials and software guides. Retrieved from https://statistics.laerd.com/

Levy, Y., & Eilam, A. (2013). Pathways to language: a naturalistic study of children with Williams syndrome and children with Down syndrome. Journal of Child Language, 40(1), 106–138. https://doi.org/10.1017/S0305000912000475.CrossRefPubMed

Makeyev, A., Erdenechimeg, L., Mungunsukh, O., Roth, J., Enkhmandakh, B., Ruddle, F., et al. (2004). GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q1123 and encodes a protein with two TFII-I-like kelix-loop-helix repeats. PNAS, 101(30), 11052–11057.CrossRef

Malenfant, P., Liu, X., Hudson, M., Qiao, Y., Hrynchak, M., Riendeau, N., et al. (2012). Association of GTF2i in the Williams-Beuren syndrome critical region with Autism Spectrum Disorders. Journal of Autism and Developmental Disorders, 42, 1459–1469. https://doi.org/10.1007/s10803-011-1389-4.CrossRefPubMed

Martens, M., Wilson, S., & Reutens, D. (2008). Research Review: Williams syndrome, a critical review of the cognitive, behavioral, and neuroanatomical phenotype. The Journal of Child Psychology and Psychiatry, 49(6), 576–608.CrossRef

Martínez-Castilla, P., Burt, M., Borgatti, R., & Gagliardi, C. (2015). Facial emotion recognition in William Syndrome and Down Syndrome: A matching and developmental study. Child Neuropsychology., 21(5), 668–692.CrossRef

Mervis, C., & Morris, C. A. (2007). Williams Syndrome. In M. Mazzocco & J. Ross (Eds.), Neurogenetic Developmental Disorders. London: The MIT Press.

Meyer-Linderberg, A., Mervis, C., & Berman, K. F. (2006). Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nature Reviews, 7, 380–393. https://doi.org/10.1038/nrn1906.CrossRef

Miezah, D., Porter, M., Batchelor, J., Boulton, K., & Veloso, G. C. (2020). Cognitive abilities in Williams syndrome. Research in Developmental Disabilities, 104, 103701.CrossRef

Pavlova, M., Heliz, J., Sokolov, A., & Barisnikov, K. (2016). Social cognition in Williams Syndrome: Face tuning. Frontiers in Psycholog., 7, 1131. https://doi.org/10.3389/fpsyg.2016.01131.CrossRef

Palmer, S., Taylor, K. M., Santucci, N., Widago, J., Chan, Y.-K. A., Yeo, J.-L., et al. (2012). GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members. Journal of Cell Science, 125, 5040–5050. https://doi.org/10.1242/jcs.102798.CrossRefPubMedPubMedCentral

Plesa Skwerer, D., Verbalis, A., Schofield, C., Faja, S., & Tager-Flusberg, H. (2006). Social-perceptual abilities in adolescents and adults with Williams syndrome. Cognitive Neuropsychology, 23(2), 338–349. https://doi.org/10.1080/02643290542000076.CrossRef

Pober, B. (2010). Williams-Beuren Syndrome. The New England Journal of Medicine, 362, 239–352.

Porter, M. A., & Coltheart, M. (2005). Cognitive heterogeneity in Williams syndrome. Developmental neuropsychology, 27(2), 275–306.CrossRef

Porter, M., Coltheart, M., & Langdon, R. (2008). Theory of Mind in Williams Syndrome Assessed Using a Nonverbal Task. Journal of Autism and Developmental Disorders, 38, 806–814. https://doi.org/10.1007/s10803-007-0447-4.CrossRefPubMed

Porter, M., Dobson-Stone, C., Kwok, J., Schofield, P., Beckett, W., & Tassabehji, M. (2012). A role of transcription factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome. PLoS ONE, 7(10), e47457. https://doi.org/10.1371/journal.pone.0047457.CrossRefPubMedPubMedCentral

Quinn, K., Macrae, C. Neil, & Bodenhausen, G. (2006). Social Cognition. In Annual Review of Psychology (Vol. 51).

Ramírez-Velasco, A., & Domínguez-Quezada, M. (2017). Deleciones atípicas en el síndrome de Williams-Beuren. Revista Mexicana del Instituto Mexicano del Seguro Social, 55(5), 5615–5620.

Serrano-Juárez, C. A., Venegas-Vega, C. A., Yáñez-Téllez, M. G., Rodríguez-Camacho, M., Silva-Pereyra, J., Salgado-Ceballos, H., et al. (2018). Cognitive, behavioural, and adaptive profiles in Williams syndrome with and without loss of GTF2IRD2. Journal of the International Neuropsychological Society, 24, 896–904. https://doi.org/10.1017/S1355617718000711.CrossRefPubMed

Tager-Flusberg, H., & Baron-Cohen, S. (1998). Reading the Windows to the Soul: Evidence of Domain-Specific Sparing in Williams Syndrome. Journal of Cognitive Neuroscience, 10(5), 631–639. https://doi.org/10.1162/089892998563031.CrossRefPubMed

Tipney, H., Hinsley, T., Brass, A., Metcalfe, K., Donnai, D., & Tassabehji, M. (2004). Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. European Jorunal of Human Genetics, 12, 551–560.CrossRef

Tirapu-Ustárroz, J., Pérez-Sayes, G., Erekatxo-Bilbao, M., & Pelegrín-Valero, C. (2007). Qué es la teoría de la mente? Revista de Neurología, 44, 479–489.CrossRef

Uhlén, M., Fagerberg, L., Hallström, B., Lindskog, C., Oksvold, P., Mardinoglu, A., et al. (2015). Tissue-based map of the human proteome. Science. https://doi.org/10.1126/science.1260419.CrossRefPubMed

van der Fluit, F., Gaffrey, M., & Kelin-Tasman, B. (2012). Social cognition in Williams syndrome: relations between performance on the social attribution task and cognitive and behavioral characteristics. Frontiers in Psychology., 3, 197. https://doi.org/10.3389/fpsyg.2012.00197.CrossRefPubMedPubMedCentral

Venegas Vega, C. A. (2012). Pruebas citogenéticas basadas en microarreglos. In V. Del Castillo Ruiz, R. D. Uranga Hernández, & G. Zafra de la Rosa (Eds.), Genética Clínica. México: Manual Moderno.

Wechsler, D. (2007). Escala Wechsler de Inteligencia para Niños y Adolescentes-IV. México: Manual Moderno.

Wechsler, D. (2014). Escala Wechsler de Inteligencia para Adultos-IV. México: Manual Moderno.

Zegarra-Valdivia, J., & Chino Vilca, B. (2017). Mentalización y teoría de la mente. Revista de Neuro-Psiquiatría, 80(3), 189–199.CrossRef

Titel: An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome
Auteurs: Carlos Alberto Serrano-Juárez
Belén Prieto-Corona
Mario Rodríguez-Camacho
Carlos Alberto Venegas-Vega
Ma. Guillermina Yáñez-Téllez
Juan Silva-Pereyra
Hermelinda Salgado-Ceballos
Natalia Arias-Trejo
Miguel Angel De León Miranda
Publicatiedatum: 18-08-2020
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 5/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-020-04656-4

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