Salta al menu principale di navigazione Salta al contenuto principale Salta al piè di pagina del sito

Articoli

N. 4 (2022): Cambiare paradigma per i disturbi del neurosviluppo? Dalla ricerca alla pratica clinica

Disturbi del neurosviluppo e autismo: possibile integrazione tra approccio dimensionale e categoriale

DOI
https://doi.org/10.3280/rip2022oa15717
Inviata
4 aprile 2023
Pubblicato
11-04-2023

Abstract

Negli ultimi anni gli studi clinici e di neuroscienze hanno messo in luce alcuni punti di debolezza delle attuali categorie psicopatologiche incluse nei disturbi del neurosviluppo, sia dal punto di vista diagnostico che della presa in carico terapeutica. In tale contesto il presente lavoro analizza gli aspetti dimensionali e categoriali dei Disturbi dello Spettro Autistico (ASD) all’interno dell’ultima edizione del Manuale Diagnostico e Statistico dei disturbi mentali (DSM-5). Se da un lato il DSM-5 ha introdotto il concetto dimensionale di “spettro”, dall’altro la presenza degli “specificatori” permette di categorizzare il variegato gruppo dei ASD in sotto-gruppi più omogenei. Gli specificatori, infatti, oltre a descrivere l’espressione fenotipica del disturbo ed essere indici predittivi dell’evoluzione clinica della persona autistica in termini di autonomia e qualità di vita, potranno aiutare nell’identificazione di pazienti che condividono un substrato neurale comune, potenziale bersaglio di futuri interventi terapeutici. Si auspica quindi di potere ampliare il numero degli specificatori, al fine di caratterizzare ancora meglio i pazienti e ridurre l’eterogeneità che ha fino ad oggi impedito lo sviluppo di biomarcatori sia diagnostici che prognostici.

Riferimenti bibliografici

  1. Allen, F. (2013). Saving normal. An insider’s revolt against out-of-control psychiatric diagnosis. Trad. It. Bollati Boringhieri.
  2. Allison, C., Baron-Cohen, S., Wheelwright, S. (2008). The Q-CHAT (quantitative checklist for autism in toddlers): a normally distributed quantitative measure of autistic traits at 18-24 months of age: preliminary report. J Autism Dev Disord, 38, 1414-1425.
  3. American Psychiatric Association (1980). Diagnostic and Statistical Manual of Mental Disorders (3rd ed.).
  4. American Psychiatric Association. (1994). Diagnostic and Statistical Manual of Mental Disorders (4th ed.).
  5. American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (5th ed.).
  6. Anderson, G.M. (2008). The potential role for emergence in autism. Autism Res, 1, 18-30. DOI: 10.1002/aur.2 14.
  7. Anderson, G.M. (2009). Conceptualizing autism: the role for emergence. J Am Acad Child Adolesc Psychiatry, 48, 688-691. DOI: 10.1097/CHI.0b013e3181a5e3d5.
  8. Astle, D.E., Holmes, J., Kievit, R., Gathercole, S.E. (2022). The transdiagnostic revolution in neurodevelopmental disorders. Journal of Child Psychology and Psychiatry, 63, 397-417.
  9. 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. J Autism Dev Disord, 31(1), 5-17.
  10. Barton, M.L., Robins, D.L., Jashar, D., Brennan, L., Fein, D. (2013). Sensitivity and specificity of proposed DSM-5 criteria for autism spectrum disorder in toddlers. J Autism Dev Disord, 43(5), 1184-1195.
  11. Constantino, J. N. (2012). (SRS™-2) Social Responsiveness Scale. Second Edition. Torrance, CA: Western Psychological Services.
  12. Elias, R., & Lord, C. (2021). Diagnostic stability in individuals with autism spectrum disorder: insights from a longitudinal follow-up study. J Child Psychol Psychiatry, DOI: 10.1111/jcpp.13551.
  13. Goodkind, M., Eickhoff, S.B., Oathes, D.J., Jiang, Y., Chang, A., Jones-Hagata, L.B., Ortega, B.N., Zaiko, Y.V., Roach, E.L., Korgaonkar, M.S., Grieve, S.M., Galatzer-Levy, I., Fox, P.T., Etkin, A., (2015). Identification of a common neurobiological substrate for mental illness. JAMA Psychiatry, 72(4), 305-315.
  14. Green, J. (2022). Autism as emergent and transactional. Front. Psychiatry, 13, 988755. DOI: 10.3389/fpsyt.2022.988755.
  15. Happé, F., & Frith, U. (2020). Annual research review: looking back to look forward. Changes in the concept of autism and implications for future research. J Child Psychol Psychiatry, 61(3), 218-232.
  16. Hull, L., Mandy, W., & Petrides, K. V. (2017). Behavioural and cognitive sex/gender differences in autism spectrum condition and typically developing males and females. Autism, 21, 706-727.
  17. Insel, T. R. (2014): The NIMH Research Domain Criteria (RDoC) Project: precision medicine for psychiatry. Am J Psychiatry, 171, 395-397.
  18. Jaarsma, P., & Welin, S. (2012). Autism as a natural human variation: Reflections on the claims of the neurodiversity movement. Health Care Analysis, 20(1), 20-30.
  19. Kopp, S,, & Gillberg, C. (2011). The Autism Spectrum Screening Questionnaire (ASSQ)-Revised Extended Version (ASSQ-REV): an instrument for better capturing the autism phenotype in girls? A preliminary study involving 191 clinical cases and community controls. Research in Developmental Disabilities, 32(6), 2875-2888.
  20. Lai, M. C., Lombardo, M., Auyeung, B., Chakrabarti, B., & Baron-Cohen, S. (2015). Sex/gender differences and autism: Setting the scene for future research. Journal of the American Academy of Child and Adolescent Psychiatry, 54, 11-24.
  21. Lai, M.-C., Lombardo, M. V., Chakrabarti, B., & Baron-Cohen, S. (2013). Subgrouping the Autism Spectrum: Reflections on DSM-5. PLoS Biol, 11(4).
  22. Leadbitter, K., Buckle, K. L., Ellis, C., & Dekker, M. (2021). Autistic selfadvocacy and the neurodiversity movement: Implications for autism early intervention research and practice. Front. Psychol., 12, 635690.
  23. Lombardo, M. V., Pierce, K., Eyler, L. T., Carter Barnes, C., Ahrens-Barbeau, C., Solso, S., Campbell, K., & Courchesne, E. (2015). Different functional neural substrates for good and poor language outcome in autism. Neuron, 22, 86(2), 567-577.
  24. Lombardo, M. V., Lai, M. C., & Baron-Cohen, S. (2019). Big data approaches to decomposing heterogeneity across the autism spectrum. Molecular Psychiatry, 24, 1435-1450.
  25. Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Luyster, R. J., Gotham, K., Bishop, S. L., & Guthrie W. (2012). ADOS-2. Autism Diagnostic Observation Schedule. Second Edition. Torrance, CA: Western Psychological Services.
  26. Mandy, W. P., Charman, T., & Skuse, D. H. (2012). Testing the construct validity of proposed criteria for DSM5 Autism Spectrum Disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 51, 41-50.
  27. Matson, J. L., Kozlowski, A. M., Hattier, M. A., Horovitz, M., Sipes, M. (2012). DSM-IV versus DSM-5 diagnostic criteria for toddlers with autism. Developmental Neurorehabilitation, 15(3), 185-190.
  28. Mattila, M. L., Kielinen, M., Linna, S. L., Jussila, K., Ebeling, H., Bloigu, R., Joseph, R. M., & Moilanen, I. (2011). Autism spectrum disorders according to DSM-IV-TR and comparison with DSM-5 draft criteria: an epidemiological study. Journal of the American Academy of Child and Adolescent Psychiatry, 50(6), 583-592.
  29. McPartland, J. C., Reichow, B., & Volkmar, F. R. (2012), Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 51(4), 368-383.
  30. Miller, J. N., & Ozonoff, S. (2000). The external validity of Asperger disorder: Lack of evidence from the domain of neuropsychology. Journal of Abnormal Psychology, 109(2), 227-238.
  31. Murray, R. M., & Lewis, S. W. (1987). Is schizophrenia a neurodevelopmental disorder?. BMJ (Clin Res Ed), 295, 681-682.
  32. Ormond, S., Brownlow, C., Garnett, M. S., Rynkiewicz, A., & Attwood, T. (2018). Profiling autism symptomatology: an exploration of the Q-ASC parental report scale in capturing sex differences in autism. Journal of Autism and Developmental Disorders, 48(2), 389-403.
  33. Owen, M. J., O’Donovan, M. C., Thapar, A., Craddock, N. (2011). Neurodevelopmental hypothesis of schizophrenia. Br J Psychiatry, 198(3), 173-175.
  34. Owen, M. J . , & O’Donovan, M. C. (2017). Schizophrenia and the neurodevelopmental continuum: Evidence from genomics. World Psychiatry, 16 (3), 227-235.
  35. Rivet, T. T., & Matson, J. L. (2011). Review of gender differences in core symptomatology in autism spectrum disorders. Research in Autism Spectrum Disorders, 5(3), 957-976.
  36. Rutter, M., LeCouteur, A., & Catherine Lord, C. (2003). (ADI™-R) Autism Diagnostic Interview-Revised. Torrance, CA: Western Psychological Services.
  37. Rynkiewicz, A., Schuller, B., Marchi, E., Piana, S., Camurri, A., Lassalle, A., & Baron-Cohen, S. (2016). An investigation of the ‘female camouflage effect’ in autism using a computerized ADOS-2 and a test of sex/gender differences. Molecular Autism, 7(1), 1-8.
  38. Santocchi, E. and Muratori, F. (2012). L’autismo nel DSM-5. Infanzia e Adolescenza, 11(3), 158-174.
  39. Sokolova, E., Oerlemans, A. M., Rommelse, N. N., Groot, P., Hartman, C. A., Glennon, J. C., ... & Buitelaar, J. K. (2017). A causal and mediation analysis of the comorbidity between Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). Journal of Autism and Developmental Disorders, 47, 1595-1604.
  40. Swineford, L. B., Thurm, A., Baird, G., Wetherby, A. M., Swedo, S. (2014). Social (pragmatic) communication disorder: A research review of this new DSM-5 diagnostic category. Journal of Neurodevelopmental Disorders, 6, 41.
  41. Tillmann, J., Ashwood, K., Absoud, M., B.lte, S., Bonnet-Brilhault, F., Buitelaar, J.K., Charman, T., (2018). Evaluating sex and age differences in ADI-R and ADOS scores in a large European multi-site sample of individuals with autism spectrum disorder. J. Autism Dev. Disord., 48, 2490-2505.
  42. Worley, J. A., & Matson, J. L. (2012). Comparing symptoms of autism spectrum disorders using the current DSM-IV-TR criteria and the proposed DSM V diagnostic criteria. Research in Autism Spectrum Disorders, 6, 965-970.

Metriche

Caricamento metriche ...