Fenótipo ampliado do autismo e habilidades pragmáticas em pais e mães de crianças com e sem transtorno do espectro autista

Renata Giuliani Endres; Juliana Burges Sbicigo; Jerusa Fumagalli Salles; Cleonice Alves Bosa

doi:10.12804/revistas.urosario.edu.co/apl/a.7855

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Broader Autism Phenotype and Pragmatic Abilities in Parents of Children with and without Autistic Spectrum Disorder

DOI: https://doi.org/10.12804/revistas.urosario.edu.co/apl/a.7855

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Published: Jul 21, 2020

Issue: Vol. 38 No. 2 (2020): Avances en Psicología Latinoamericana

Section Artículos

Keywords: Broader autism phenotype; communica-tive-pragmatic skills; parents; intelligence quotient

Authors

Renata Giuliani Endres
Universidade Federal do Rio Grande do Sul

Juliana Burges Sbicigo
Universidade Federal do Rio Grande do Sul

Jerusa Fumagalli Salles
Universidade Federal do Rio Grande do Sul

Cleonice Alves Bosa
Universidade Federal do Rio Grande do Sul

Abstract

The broader autism phenotype (BAP) has been defined as subclinical traits that configure the phenotypic expression of genetic susceptibility to the development of Autistic Spectrum Disorder (ASD). The literature has pointed to the relationship between communicative-pragmatic skills and autism. However, there is controversy as to whether these skills constitute a specific feature of the BAP. Still, research with first-degree relatives of people with ASD has not yet been successful in establishing definitive markers. Thus, this study compared the performance of parents of children with (n=26) and without ASD (n=26) in communicative-pragmatic skills tasks and BAP indicators. The Broader Autism Phenotype Questionnaire (BAPQ) and subtests of the Montreal Communication Evaluation Battery (MAC Battery), and the Wechsler Abbreviated Intelligence Scale (WASI) were applied. The results indicated that parents of children with ASD had greater difficulty in the pragmatic language of the bapq, although they did not meet the criteria for bap and in communicative-pragmatic skills of conversational speech, emotional prosody, metaphor interpretation, and indirect speech acts. The clinical group also presented a lower verbal IQ score compared to the non-clinical group. It is concluded that greater difficulties in cognitive-pragmatic skills may be a central and probably specific aspect of the BAP in family members of children with ASD, as well as difficulties in structural aspects of language, such as verbal intelligence. These results have implications for understanding the possible influence of familiar sociocognitive factors on the genesis of autism.

Author Biography

Juliana Burges Sbicigo, Universidade Federal do Rio Grande do Sul

Doutora em Psicologia pela Universidade Federal do Ri Grande do Sul. Pesquisadora associada ao Núcleo de Estudos em Neuropsicologia Cognitiva (NEUROCOG).

How to Cite

Endres, R. G., Sbicigo, J. B., Salles, J. F., & Bosa, C. A. (2020). Broader Autism Phenotype and Pragmatic Abilities in Parents of Children with and without Autistic Spectrum Disorder. Avances En Psicología Latinoamericana, 38(2), 1–16. https://doi.org/10.12804/revistas.urosario.edu.co/apl/a.7855

References

American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders. Washington, D.C.: Autor.

Associação Brasileira de Empresas de Pesquisa (2015). Critério de Classificação Econômica Brasil – CCEB – Dados com base no levantamento socioeconômico 2015. Recuperado de http//www.abep.org

Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The Autism Spectrum Quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Journal of Autism and Developmental Disorders, 31(1), 5-17. https://doi.org/0162-3257/01/0200-0005$19.50/0

Benjamini Y, & Hochberg Y. (1995). Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society: Series B (Statistical Methodology), 57, 289-300.

Bernier, R., Gerdts, J., Munson, J., Dawson, G., & Estes, A. (2012). Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. Autism Research, 5(1), 13-20. https://doi.org/10.1002/aur.226

Bishop, D. V. M., Maybery, M., Wong, D., Maley, A., & Hallmayer, J. (2006). Characteristics of the broader phenotype in autism: A study of siblings using the children’s communication checklist-2. American Journal of Medical Genetics, 141B(2), 117-122. https://doi.org/10.1002/ ajmg.b.30267

Bora, E., Aydın, A., Saraç, T., Kadak, M. T., & Köse, S. (2017). Heterogeneity of subclinical autistic traits among parents of children with autism spectrum disorder: Identifying the broader autism phenotype with a data-driven method. Autism Research, 10, 321-326. https:// doi.org/10.1002/aur.1661

Camodeca, A., Todd, K. Q., & Hosack, A. (2018). Intact verbal fluency abilities in the Broad Autism Phenotype. Psychiatry Research, 270, 443-452. https://doi.org/10.1016/j.psychres.2018.10.006

Camodeca, A., & Voelker, S. (2016). Automatic and controlled processing and the Broad Autism Phenotype. Psychiatry Research, 235, 169-176. https://doi.org/10.1016/j.psychres.2015.11.012

Chuthapisith, J., Ruangdaraganon, N., Sombuntham, T., & Roongpraiwan, R. (2007). Language development among the siblings of children with autistic spectrum disorder. Autism, 11(2), 149-160. https://doi.org/10.1177/1362361307075706

Cohen, J. (1988). Statistical power analysis for the behavioral sciences. Hillsdale, NJ: Lawrence Erlbaum Associates Publishers.

Cribb, S. J., Olaithe, M., Di Lorenzo, R., Dunlop, P. D., & Maybery, M. T. (2016). Embedded figures test performance in the broader autism phenotype: A meta-analysis. Journal of Autism and Developmental Disorders, 46, 2924-2939. https://doi.org/10.1007/s10803-016-2832-3

Cruz, L. L. P. (2012). Ocorrência de fenótipo ampliado do autismo em pais de crianças portadoras da síndrome (Dissertação de mestrado, Instituto de Previdência dos Servidores do Estado de Minas Gerais, Minas Gerais, Brasil).

Davidson, J., Goin-Kochel, R. P., Green-Snyder, L. A., Hundley, R. J., Warren, Z., & Peters, S. U. (2014). Expression of the broad autism phenotype in simplex autism families from the simons simplex collection. Journal of autism and developmental disorders, 44, 1-8. https://doi.

org/10.1007/s10803-012-1492-1

Dawson, G., Webb, S., Schellenberg, G. D., Dager, S., Friedman, S., Aylward, & Richards, T. (2002). Defining the broader phenotype of autism: Genetic, brain, and behavioral perspectives. Development and Psychopathology, 14(3), 581-611. https://doi.org/10.1017/S0954579402003103

De Groot, K., & Van Strien, J. W. (2017). Evidence for a broad autism phenotype. Advances in Neurodevelopmental Disorders, 1(3), 129-140. https://doi.org/10.1007/s41252-017-0021-9

Endres, R. G., Lampert, S. S., Schuch, J. B., Roman, T., & Bosa, C. A. (2015). The broader autism phenotype in parents of children with autism spectrum disorder - ASD. Psicologia: Teoria e Pesquisa, 31(3), 285-292. https://doi. org/10.1590/0102-37722015032268285292

Ferré, P., Lamelin, F., Côté, H., Ska, B., & Joanette, Y. (2011). Protocole MEC-P (Protocole Mon- tréald’Évaluation de la Communication (version de Poche)). Isbergues (France): Ortho Édition.

Flax J., Gwin, C., Wilson, S. Fradkin, Y., Buyske, S., & Brzustowicz, L. (2019). Social (pragmatic) communication disorder: Another name for the Broad Autism Phenotype? Autism, 23. 1-11. https://doi.org/10.1177/1362361318822503

Fleitlich, B., Cortázar, P. G., & Goodman, R. (2000). Questionário de capacidades e dificuldades (SDQ). Infanto-Revista de Neuropsiquiatria da Infância e Adolescência, 8(1), 44-50.

Folstein, S. E., Santangelo, S. L., Gilman, S. E., Piven, J., Landa, R., Lainhart J., ..., Wzorek M. (1999). Predictors of cognitive test patterns in autism families. The Journal of Child Psychology and Psychiatry and Allied Disciplines, 40(7), 1117- 1128.

Fombonne, E., Bolton, P., Prior, J., Jordan, H., & Rutter, M. (1997). A family study of autism: Cognitive patterns and levels in parents and siblings. Journal of Child Psychology and Psychiatry, 38(6), 667-683.

Fonseca, R. P., Parente, M. A. M. P., Côté, H., Ska, B., & Joanette, Y. (2008). Apresentando um instrumento de avaliação da comunicação à fonoaudiologia brasileira: bateria MAC. Pró Fono Revista de Atualização Científica, 20(4), 285-92.

Fritz, C. O., Morris, P. E., & Richler, J. J. (2012). Effect size estimates: Current use, calculations, and interpretation. Journal of Experimental Psychology: General, 141(1), 2-18. https://doi. org/10.1037/a0024338

Gerdts, J. A., Bernier, R., Dawson, G., & Estes, A. (2013). The broader autism phenotype in simplex and multiplex families. Journal of Autism and Developmental Disorders, 43(7), 1597-1605. https://doi.org/10.1007/s10803- 012-1706-6

Hackman, D. A., Farah, M. J., & Meaney, M. J. (2010). Socioeconomic status and the brain: Mechanistic insights from human and animal research. Nature Reviews. Neuroscience, 11(9), 651-659. https://doi.org/10.1038/nrn2897

Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., ..., Risch, N. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry,68, 1095-1102. https:// doi.org/10.1001/archgenpsychiatry.2011.76

Harding, T. W., De Arango, M. V., Baltazar, J., Climent, C. E., Ibrahim, H. H. A., Ladrido-Ignacio, ..., Wig, N. N. (1980). Mental disorders in primary health care: A study of their frequency

and diagnosis in four developing countries.

Psychological Medicine, 10, 231-241. Hurley, R. S. E., Losh, M., Parlier, M., Reznick, J. S., & Piven, J. (2007). The broad autism phenotype questionnaire. Journal of Autism and Developmental Disorders, 37(9),1679-90. https://doi.org/10.1007/s10803-006-0299-3

Ingersoll, B. (2010). Broader autism phenotype and nonverbal sensitivity: Evidence for an association in the general population. Journal of Autism Developmental Disorders, 40, 590-598. https:// doi.org/10.1007/s10803-009-0907-0

Lee, M., Naya, K., Maltman, N., Hamburger, D., Martin, G. E., Gordon, P. C., & Losh, M. (2019). Understanding social communication differences in Autism Spectrum Disorder and first-degree relatives: A study of looking and speaking. Journal of Autism and Developmental Disorders, 1-14. https://doi.org/10.1007/ s10803-019-03969-3

Lindgren, K. A., Folstein, S. E., Tomblin, J. B., & Tager-Flusberg, H. (2009). Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives. Autism Research, 2, 22-38. https://doi.org/10.1002/aur.63

Losh, M., Childress, D., Lam, K., & Piven, J. (2008). Defining key features of the broad autism phenotype: A comparison across parents of multiple-and single-incidence autism families. American Journal of Medical Genetics, 147B, 424-433. https://doi.org/10.1002/ajmg.b.30612

Mari, J. J., & Williams, P. (1986). A validity study of a psychiatric screening questionnaire (SRQ- 20) in primary care in the city of São Paulo. The British Journal of Psychiatry, 148, 23-26. https://doi.org/10.1192/bjp.148.1.23

Mottron, L., Bouvet, L., Bonnel, A., Samson, F., Bu- rack, J. A., Dawson, M., & Heaton, P. (2013). Veridical mapping in the development of exceptional autistic abilities. Neuroscience & Biobehavioral Reviews, 37(2), 209-28. https://doi. org/10.1016/j.neubiorev.2012.11.016

Naschmias, C., & Naschmias, D. (1996). Research methods in the social sciences. London: Arnold.

Piccolo, L. R., Sbicigo, J. S., Grassi-Oliveira, R., Salles, J. F. (2014). Doses and stress reactivity impact neurocognitive performance? Psychology & Neuroscience, 7(4), 567-575. https://doi.org/10.3922/j.psns.2014.4.16

Pilowsky, T., Yirmiya, N., Gross-Tsur, V., & Shalev, R. S. (2007). Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay, and siblings of children with mental retardation of unknown genetic etiology. Journal of Autism and Developmental Disorders, 37, 537-552. https://doi.org/10.1007/s10803-006-0185-z

Pilowsky, T., Yirmiya, N., Shalev, R. S., & Gross- Tsur, V. (2003). Language abilities of siblings of children with autism. Journal of Child Psychology & Psychiatry, 44, 914-925. https://doi. org/10.1111/1469-7610.00175

Piven, J. (2001). The broad autism phenotype: A complementary strategy for molecular genetic studies of autism. American Journal of Medical Genetics, 105(1), 34-35. https://doi.org/10.1002/1096- 8628(20010108)105:1<34:AID-AJMG1052> 3.0.CO;2-D

Piven, J., & Palmer, P. (1997). Cognitive deficits in parents from multiple-incidence autism families. Journal of Child Psychology and Psychiatry, 38, 1011-1021. https://doi.org/10.1111/j.1469-7610.1997. tb01618.x

Piven, J., & Palmer, P. (1999). Psychiatric disorder and the broad autism phenotype: Evidence from a family study of multiple-incidence autism families. American Journal of Psychiatry, 156(4), 557-63. https://doi.org/10.1176/ ajp.156.4.557

Piven J., Palmer P., Landa R., Santangelo S., Jacobi D., & Childress, D. (1997). Personality and language characteristics in parents from multiple-incidence autism families. Neuropsychiatric Genetics, 74, 398-411. Recuperado de https:// www.ncbi.nlm.nih.gov/pubmed/9259376

Rubenstein, E., & Chawla, D. (2018). Broader autism phenotype in parents of children with autism: A systematic review of percentage estimates. Journal of child and family studies, 27, 1705- 1720. https://doi.org/10.1007/s10826-018- 1026-3

Ruparelia, K., Manji, K., Abubakar, A., & Newton, C. R. (2017). Investigating the evidence of behavioral, cognitive, and psychiatric endophenotypes in autism: A Systematic review. Autism Research and Treatment, 2017. https:// doi.org/10.1155/2017/6346912

Ruta, L., Mazzone, D., Mazzone, L., Wheelwright, S., & Baron-Cohen, S. (2012). The autism-spectrum quotient. Italian version: A cross-cultural confirmation of the broader autism phenotype. Journal of Autism and Developmental Disorders, 42(4), 625-33. https://doi.org/10.1007/ s10803-011-1290-1

Sasson, N. J., Lam, K. S., Parlier, M., Daniels, J. L., & Piven, J. (2013). Autism and the broad autism phenotype: Familial patterns and intergenerational transmission. Journal of Neurodevelopmental Disorders, 5(1), 11. https://doi. org/10.1186/1866-1955-5-11

Smalley, S. L., & Asarnow, R. F. (1990). Brief report: Cognitive subclinical markers in autism. Journal of Autism and Developmental Disorders, 20, 271- 278. https://doi.org/10.1007/BF02284724

Sucksmith, E., Roth, I., & Hoekstra, R. A. (2011). Autistic traits below the clinical threshold: Re-examining the broader autism phenotype in the 21st century. Neuropsycholy Review, 21, 360-389. https://doi.org/10.1007/s11065-011- 9183-9

Taylor, L. J., Maybery, M. T., Wray, J., Ravine, D., Hunt, A., & Whitehouse, A. J. (2013). Brief report: Do the nature of communication impairments in autism spectrum disorders relate to the broader autism phenotype in parents? Journal of Autism and Developmental Disorders, 43(12), 2984-2989. https://doi.org/10.1007/ s10803-013-1838-3

The Psychological Corporation. (1999). Wechsler Abbreviated Scale of Intelligence Manual. San Antonio: APA.

Trentini, C. M., Yates, D. B., & Heck, V. S. (2014). Escala de inteligência Wechsler abreviada (WASI): manual profissional. São Paulo: Pearson.

Tick, B., Bolton, P., Happé, F., Rutter, M., & Rijsdijk, F. (2016). Heritability of autism spectrum disorders: A meta‐analysis of twin studies. Journal of Child Psychology and Psychiatry, 57(5),

-595. https://doi.org/10.1111/jcpp.12499

Van der Hallen, R., Evers, K., Brewaeys, K., Van den Noortgate, W., & Wagemans, J. (2015). Global processing takes time: A meta-analysis on local-global visual processing in ASD. Psychological Bulletin, 141(3), 549-573. https://doi.org/10.1037/bul0000004

Waye, M. M., & Cheng, H. Y. (2018). Genetics and epigenetics of autism: A review. Psychiatry and clinical neurosciences, 72(4), 228-244. http:// doi.org/10.1111/pcn.12606

Wheelwright, S., Auyeung, B., Allison, C., & Baron-Cohen, S. (2010). Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ). Molecular Autism, 1, 1-10. https://doi. org/10.1186/2040-2392-1-10

Whitehouse, A. J. O., Barry, J. G., & Bishop, D. V. M. (2007). The broader language phenotype of autism: A comparison with specific language impairment. Journal of Child Psychology and Psychiatry, 48(8), 822-830. https://doi. org/10.1111/j.1469-7610.2007.01765.x

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Juliana Burges Sbicigo, Universidade Federal do Rio Grande do Sul

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