Ο ευρύτερος φαινότυπος του αυτισμού στους γονείς παιδιών με αυτισμό


Δημοσιευμένα: Dec 22, 2025
Λέξεις-κλειδιά:
ευρύτερος φαινότυπος του αυτισμού, ενδοφαινότυπος, χαρακτηριστικά, γονείς, οικογένειες
Παναγιώτα Καζαντζίδου
https://orcid.org/0000-0003-2211-5987
Βασιλική Κωσταρέλλη
https://orcid.org/0000-0002-3863-838X
Γεώργιος Παπανικολάου
Αικατερίνη Αντωνοπούλου
https://orcid.org/0000-0003-4184-6830
Περίληψη

Η παρούσα ανασκόπηση αποσκοπεί στη σύνοψη και ανάλυση των εμπειρικών δεδομένων τα οποία προκύπτουν από τις έρευνες που σχετίζονται με τη μελέτη του ευρύτερου φαινότυπου του αυτισμού σε γονείς παιδιών με αυτισμό. Ο όρος αυτός αναφέρεται σε μία κατάσταση η οποία περιλαμβάνει ήπιες αλλά ποιοτικά παρόμοιες μορφές χαρακτηριστικών, που συνδέονται με τη διαταραχή αυτιστικού φάσματος και αφορούν σε ελλείμματα στην επικοινωνία, τις ρουτίνες συμπεριφοράς και την αντίσταση στην αλλαγή. Τις τελευταίες δεκαετίες έχει επικρατήσει η άποψη ότι αυτά τα χαρακτηριστικά τα οποία αρκετά συχνά τα μοιράζονται οι γονείς και τα αδέλφια των παιδιών με αυτισμό, μπορεί να είναι χρήσιμα για την ευρύτερη μελέτη γύρω από τους περιβαλλοντικούς και γενετικούς παράγοντες που συνδέονται με την εκδήλωση της διαταραχής. Συνολικά συμπεριλήφθηκαν σαράντα μία μελέτες που δημοσιεύτηκαν μεταξύ των ετών 2012 και 2025 στις χώρες Αμερική, Ιταλία, Κίνα, Ιαπωνία, Τουρκία, Γαλλία, Ιράν, Αυστραλία, Βέλγιο, Ολλανδία, Πορτογαλία και Αγγλία και πληρούσαν προκαθορισμένα κριτήρια ένταξης. Τα αποτελέσματα έδειξαν ότι τα χαρακτηριστικά που συναντώνται συχνότερα αναφέρονται σε κοινωνικά, επικοινωνιακά και γνωστικά ελλείμματα, καθώς επίσης και σε διάφορες συνθήκες ψυχικής υγείας όπως άγχος, κατάθλιψη και διαταραχές της διάθεσης. Τα ευρήματα αυτά θα μπορούσαν να είναι χρήσιμα για τους επαγγελματίες ψυχικής υγείας, προκειμένου να συμβάλουν στην κατανόηση ορισμένων συμπτωμάτων στην οικογένεια και κυρίως, να βοηθήσουν στον σχεδιασμό και στην αποτελεσματικότερη εφαρμογή παρεμβάσεων για την ενδυνάμωση της οικογένειας των παιδιών με αυτισμό και την βελτίωση της ποιότητας ζωής της.

Λεπτομέρειες άρθρου
  • Ενότητα
  • ΑΝΑΣΚΟΠΗΣΕΙΣ
Λήψεις
Τα δεδομένα λήψης δεν είναι ακόμη διαθέσιμα.
Βιογραφικά Συγγραφέων
Βασιλική Κωσταρέλλη, Τμήμα Οικονομίας και Βιώσιμης Ανάπτυξης, Χαροκόπειο Πανεπιστήμιο

Vassiliki Costarelli is an Associate Professor in Nutrition Behavior and Health and Head of the Department of Economics & Sustainable Development at Harokopio University, Athens, Greece. Her research interests focus on factors that affect and form eating behavior in humans, sustainable diets, health and nutrition literacy, childhood obesity, emotional eating and nutrition and cancer. She has numerous publications, out of which, 70 articles published in peer review journals, more than 2944 citations and an h-index of 29 (google scholar).

Αικατερίνη Αντωνοπούλου, Τμήμα Οικονομίας και Βιώσιμης Ανάπτυξης, Χαροκόπειο Πανεπιστήμιο

 

 

Αναφορές
Bagby, R. Michael., Parker, J. D. A., & Taylor, G. J. (1994α). The twenty-item Toronto Alexithymia scale—I. Item selection and cross-validation of the factor structure. Journal of Psychosomatic Research, 38(1), 23–32. https://doi.org/10.1016/0022-3999(94)90005-1
Bagby, R. Michael., Taylor, G. J., & Parker, J. D. A. (1994β). The twenty-item Toronto Alexithymia scale—II. Convergent, discriminant, and concurrent validity. Journal of Psychosomatic Research, 38(1), 33–40. https://doi.org/10.1016/0022-3999(94)90006-x
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/10.1023/a:1005653411471
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
Berthoz, S., Lalanne, C., Crane, L., & Hill, E. L. (2013). Investigating emotional impairments in adults with autism spectrum disorders and the broader autism phenotype. Psychiatry Research, 208(3), 257–264. https://doi.org/10.1016/j.psychres.2013.05.014
Bishop, D. V. M. (2003). The children’s communication checklist— 2. The Psychological Corporation.
Bora, E., Aydin, A., Sarac, T., Kadak, M. T., & Kose, 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(2), 321–326. https://doi.org/10.1002/aur.1661
Carpita, B., Carmassi, C., Calderoni, S., Muti, D., Muscarella, A., Massimetti, G., Cremone, I. M., Gesi, C., Conti, E., Muratori, F., & Dell’Osso, L. (2020). The broad autism phenotype in real-life: clinical and functional correlates of autism spectrum symptoms and rumination among parents of patients with autism spectrum disorder. CNS Spectrums, 25(6), 765–773. https://doi.org/10.1017/s1092852919001615
Chapman, L. J., Chapman, J. P., & Raulin, M. L. (1976). Scales for physical and social anhedonia. Journal of Abnormal Psychology, 85(4), 374–382. https://doi.org/10.1037/0021-843x.85.4.374
Constantino, J. N., & Gruber, C. P. (2012). Social Responsiveness Scale Second Edition (SRS-2): manual. Western Psychological Services (Wps).
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(10), 2392–2399. https://doi.org/10.1007/s10803-012-1492-1
Dawson, G., Estes, A., Munson, J., Schellenberg, G., Bernier, R., & Abbott, R. (2007). Quantitative assessment of autism symptom-related traits in probands and parents: Broader phenotype autism symptom scale. Journal of autism and developmental disorders, 37(3), 523–536. https://doi.org/10.1007/s10803-006-0182-2
De la Marche, W., Noens, I., Kuppens, S., Spilt, J. L., Boets, B., & Steyaert, J. (2015). Measuring quantitative autism traits in families: informant effect or intergenerational transmission? European Child and Adolescent Psychiatry, 24(4), 385–395. https://doi.org/10.1007/s00787-014-0586-z
Di Mento, B., John, J. R., Diaz, A. M., Lin, P. I., Masi, A., Grove, R., & Eapen, V. (2024). Sex differences in the broad autism phenotype: Insights from the Australian biobank. Journal of Autism and Developmental Disorders. https://doi.org/10.1007/s10803-024-06466-4
Donaldson, C. K., Stauder, J. E. A., & Donkers, F. C. L. (2017). Increased sensory processing atypicalities in parents of multiplex ASD families versus typically developing and simplex ASD families. Journal of Autism and Developmental Disorders, 47(3), 535–548. https://doi.org/10.1007/s10803-016-2888-0
Duvekot, J., van der Ende, J., Constantino, J. N., Verhulst, F. C., & Greaves-Lord, K. (2016). Symptoms of autism spectrum disorder and anxiety: shared familial transmission and cross-assortative mating. Journal of Child Psychology and Psychiatry and Allied Disciplines, 57(6), 759–769. https://doi.org/10.1111/jcpp.12508
Eckblad, M.L., Chapman, L.J., Chapman, J.P., Mishlove, M., 1982. The revised social anhedonia scale [Unpublished test]. Department of Psychology. University of Wisconsin. Madison.
Folstein, S., & Rutter, M. (1977). Infantile Autism: A genetic study of 21 twin pairs. Journal of Child Psychology and Psychiatry, 18(4), 297–321. https://doi.org/10.1111/j.1469-7610.1977.tb00443.x
Gerdts, J., & Bernier, R. (2011). The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders. Autism Research and Treatment, 2011, 1–19. https://doi.org/10.1155/2011/545901
Gerdts, J., 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
Grove, R., Baillie, A., Allison, C., Baron-Cohen, S., & Hoekstra, R. A. (2013). Empathizing, systemizing, and autistic traits: Latent structure in individuals with autism, their parents, and general population controls. Journal of Abnormal Psychology, 122(2), 600–609. https://doi.org/10.1037/a0031919
Hartley, S. L., Hickey, E. J., DaWalt, L., & Rodriguez, G. (2019). Broader autism phenotype and couple interactions in parents of children with autism. Autism, 23(8), 2068–2079. https://doi.org/10.1177/1362361319841312
Hasegawa, C., Kikuchi, M., Yoshimura, Y., Hiraishi, H., Munesue, T., Nakatani, H., Higashida, H., Asada, M., Oi, M., & Minabe, Y. (2015). Broader autism phenotype in mothers predicts social responsiveness in young children with autism spectrum disorders. Psychiatry and Clinical Neurosciences, 69(3), 136–144. https://doi.org/10.1111/pcn.12210
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), 1679–1690. https://doi.org/10.1007/s10803-006-0299-3
Kadak, M. T., Demirel, Ö. F., Yavuz, M., & Demir, T. (2014). Recognition of emotional facial expressions and broad autism phenotype in parents of children diagnosed with autistic spectrum disorder. Comprehensive Psychiatry, 55(5), 1146–1151. https://doi.org/10.1016/j.comppsych.2014.03.004
Kose, S., Bora, E., Erermiş, S., Özbaran, B., Bildik, T., & Aydın, C. (2013). Broader autistic phenotype in parents of children with autism: Autism spectrum quotient-Turkish version. Psychiatry and Clinical Neurosciences, 67(1), 20–27. https://doi.org/10.1111/pcn.12005
Kulasinghe, K., Whittingham, K., & Mitchell, A. E. (2021). Mental health, broad autism phenotype and psychological inflexibility in mothers of young children with autism spectrum disorder in Australia: A cross-sectional survey. Autism, 25(5), 1187-1202. https://doi.org/10.1177/1362361320984625
Landa, R., Piven, J., Wzorek, M. M., Gayle, J. O., Chase, G. A., & Folstein, S. E. (1992). Social language use in parents of autistic individuals. Psychological Medicine, 22(1), 245-254. https://doi.org/10.1017/s0033291700032918
Levin-Decanini, T., Maltman, N., Francis, S. M., Guter, S., Anderson, G. M., Cook, E. H., & Jacob, S. (2013). Parental broader autism subphenotypes in ASD affected families: relationship to gender, child’s symptoms, SSRI treatment, and platelet serotonin. Autism Research, 6(6), 621–630. https://doi.org/10.1002/aur.1322
Li, X., Wang, Q., Wu, Y., Wang, S., Huang, Y., & Li, T. (2017). Personality characteristics and neurocognitive functions in parents of children with autism spectrum disorder. Shanghai archives of psychiatry, 29(1), 41–47. https://doi.org/10.11919/j.issn.1002-0829.216108
Losh, M., Klusek, J., Martin, G. E., Sideris, J., Parlier, M., & Piven, J. (2012). Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(6), 660–668. https://doi.org/10.1002/ajmg.b.32070
Lyall, K., Constantino, J. N., Weisskopf, M. G., Roberts, A. L., Ascherio, A., & Santangelo, S. L. (2014). Parental social responsiveness and risk of autism spectrum disorder in offspring. JAMA Psychiatry, 71(8), 936-942. https://doi.org/10.1001/jamapsychiatry.2014.476
Machado AS, Dias G, & P Carvalho I. (2024). Disentangling the relationship between sensory processing, alexithymia and broad autism spectrum: A study in parents' of children with autism spectrum disorders and sensory processing disorders. Research in Developmental Disabilities, 149, 104742. https://doi.org/10.1016/j.ridd.2024.104742
Maxwell, C. R., Parish-Morris, J., Hsin, O., Bush, J. C., & Schultz, R. T. (2013). The broad autism phenotype predicts child functioning in autism spectrum disorders. Journal of Neurodevelopmental Disorders, 5(1), 25. https://doi.org/10.1186/1866-1955-5-25
Mohammadi, M. R., Zarafshan, H., & Ghasempour, S. (2012). Broader autism phenotype in Iranian parents of children with autism spectrum disorders vs. normal children. Iranian Journal of Psychiatry, 7(4), 157–163.
Narzisi A, Busuoli EM, Fabbri-Destro M, Pinzino M, Calderoni S, Tancredi R, Lombardo MV & Masi G. (2025). Exploring autistic traits in parents of autistic children: A pilot study on the broader autism phenotype. Frontiers in Psychiatry, 16, 1537487. https://doi.org/10.3389/fpsyt.2025.1537487
Nayar, K., Sealock, J. M., Maltman, N., Bush, L., Cook, E. H., Davis, L. K., & Losh, M. (2020). Elevated polygenic burden for autism spectrum disorder is associated with the broad autism phenotype in mothers of individuals with autism spectrum disorder. Biological Psychiatry, 89(5), 476-485. https://doi.org/10.1016/j.biopsych.2020.08.029
Page, J., Constantino, J. N., Zambrana, K., Martin, E., Tunc, I., Zhang, Y., Abbacchi, A., & Messinger, D. (2016). Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families. Molecular Autism, 7(1), 39. https://doi.org/10.1186/s13229-016-0100-1
Pickles, A., St Clair, M. C., & Conti-Ramsden, G. (2013). Communication and social deficits in relatives of individuals with SLI and relatives of individuals with ASD. Journal of autism and developmental disorders, 43(1), 156–167. https://doi.org/10.1007/s10803-012-1556-2
Piven, J., Wzorek, M., Landa, R., Lainhart, J., Bolton, P., Chase, G. A., & Folstein, S. (1994). Personality characteristics of the parents of autistic individuals. Psychological Medicine, 24(3), 783-795. https://doi.org/10.1017/s0033291700027938
Piven J, Palmer P, Jacobi D, Childress D, Arndt S. (1997). Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. American Journal of Psychiatry, 154(2), 185-190. https://doi.org/10.1176/ajp.154.2.185
Robel, L., Rousselot-Pailley, B., Fortin, C., Levy-Rueff, M., Golse, B., & Falissard, B. (2014). Subthreshold traits of the broad autistic spectrum are distributed across different subgroups in parents, but not siblings, of probands with autism. European Child & Adolescent Psychiatry, 23(4), 225-33. https://doi.org/10.1007/s00787-013-0451-5
Rubenstein, E., Edmondson Pretzel, R., Windham, G. C., Schieve, L. A., Wiggins, L. D., DiGuiseppi, C., Olshan, A. F., Howard, A. G., Pence, B. W., Young, L., & Daniels, J. (2017). The broader autism phenotype in mothers is associated with increased discordance between maternal-reported and clinician-observed instruments that measure child autism spectrum disorder. Journal of Autism and Developmental Disorders, 47(10), 3253–3266. https://doi.org/10.1007/s10803-017-3248-4
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(6), 1705–1720. https://doi.org/10.1007/s10826-018-1026-3
Rubenstein, E., Wiggins, L. D., Schieve, L. A., Bradley, C., DiGuiseppi, C., Moody, E., Pandey, J., Pretzel, R. E., Howard, A. G., Olshan, A. F., Pence, B. W., & Daniels, J. (2019). Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development. Autism, 23(2), 436-448. https://doi.org/10.1177/1362361317753563
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), 625–633. https://doi.org/10.1007/s10803-011-1290-1
Sasson, N. J., Lam, K. S. L., Parlier, M., Daniels, J. L., & Piven, J. (2013). Autism and the broad autism phenotype: Familial patterns and intergenerational transmission. Journal of Neurodevelopmental Disorders, 5, 11. https://doi.org/10.1186/1866-1955-5-11
Sasson, N. J., Faso, D. J., Parlier, M., Daniels, J. L., & Piven, J. (2014). When father doesn't know best: selective disagreement between self-report and informant report of the broad autism phenotype in parents of a child with autism. Autism Research, 7(6), 731-739. https://doi.org/10.1002/aur.1425
Shi, L.-J., Ou, J.-J., Gong, J.-B., Wang, S.-H., Zhou, Y.-Y., Zhu, F.-R., Liu, X.-D., Zhao, J.-P., & Luo, X.-R. (2015). Broad autism phenotype features of Chinese parents with autistic children and their associations with severity of social impairment in probands. BMC Psychiatry, 15, Article 168. https://doi.org/10.1186/s12888-015-0568-9
Sucksmith, E., Roth, I., & Hoekstra, R. A. (2011). Autistic traits below the clinical threshold: Re-examining the broader autism phenotype in the 21st Century. Neuropsychology Review, 21(4), 360–389. https://doi.org/10.1007/s11065-011-9183-9
Sucksmith, E., Allison, C., Baron-Cohen, S., Chakrabarti, B., & Hoekstra, R. A. (2013). Empathy and emotion recognition in people with autism, first-degree relatives, and controls. Neuropsychologia, 51(1), 98–105. https://doi.org/10.1016/j.neuropsychologia.2012.11.013
Tajmirriyahi, M., Nejati, V., Pouretemad, H., & Sepehr, R. M. (2013). Reading the mind in the face and voice in parents of children with Autism Spectrum Disorders. Research in Autism Spectrum Disorders, 7(12), 1543–1550. https://doi.org/10.1016/j.rasd.2013.08.007
Taylor, L. J., Maybery, M. T., Wray, J., Ravine, D., Hunt, A., & Whitehouse, A. J. O. (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
Taylor, E., Holt, R., Tavassoli, T., Ashwin, C., & Baron-Cohen, S. (2020). Revised scored Sensory Perception Quotient reveals sensory hypersensitivity in women with autism. Molecular Autism, 11, Article 18. https://doi.org/10.1186/s13229-019-0289-x
Uljarević, M., Evans, D. W., Alvares, G. A., & Whitehouse, A. J. O. (2016). Short report: relationship between restricted and repetitive behaviours in children with autism spectrum disorder and their parents. Molecular Autism, 7, Article 29. https://doi.org/10.1186/s13229-016-0091-y
Uljarević, M., Frazier, T. W., Jo, B., Phillips, J. M., Billingham, W., Cooper, M. N., & Hardan, A. Y. (2021). relationship between social motivation in children with autism spectrum disorder and their parents. Frontiers in Neuroscience, 15. https://doi.org/10.3389/fnins.2021.660330
Umer Jon Ganai, Bhushan, B., & Venkatesh, K. S. (2024). Broad autism phenotype and gait in parents of children with and without autism spectrum disorder. Annals of Neurosciences. https://doi.org/10.1177/09727531241249533
Vorst, H. C. M., & Bermond, B. (2001). Validity and reliability of the Bermond–Vorst Alexithymia Questionnaire. Personality and Individual Differences, 30(3), 413–434. https://doi.org/10.1016/s0191-8869(00)00033-7
White, S., Hill, E., Happé, F., & Frith, U. (2009). Revisiting the strange stories: Revealing mentalizing impairments in autism. Child Development, 80(4), 1097–1117. https://doi.org/10.1111/j.1467-8624.2009.01319.x
Τα περισσότερο διαβασμένα άρθρα του ίδιου συγγραφέα(s)