New advances in the diagnosis and treatment of autism spectrum disorders.
Autism spectrum disorder (ASD)
Diagnostic methods
Emerging biotechnology
Precision medicine
Treatment strategies
Journal
European journal of medical research
ISSN: 2047-783X
Titre abrégé: Eur J Med Res
Pays: England
ID NLM: 9517857
Informations de publication
Date de publication:
10 Jun 2024
10 Jun 2024
Historique:
received:
17
04
2024
accepted:
01
06
2024
medline:
11
6
2024
pubmed:
11
6
2024
entrez:
10
6
2024
Statut:
epublish
Résumé
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that affect individuals' social interactions, communication skills, and behavioral patterns, with significant individual differences and complex etiology. This article reviews the definition and characteristics of ASD, epidemiological profile, early research and diagnostic history, etiological studies, advances in diagnostic methods, therapeutic approaches and intervention strategies, social and educational integration, and future research directions. The highly heritable nature of ASD, the role of environmental factors, genetic-environmental interactions, and the need for individualized, integrated, and technology-driven treatment strategies are emphasized. Also discussed is the interaction of social policy with ASD research and the outlook for future research and treatment, including the promise of precision medicine and emerging biotechnology applications. The paper points out that despite the remarkable progress that has been made, there are still many challenges to the comprehensive understanding and effective treatment of ASD, and interdisciplinary and cross-cultural research and global collaboration are needed to further deepen the understanding of ASD and improve the quality of life of patients.
Identifiants
pubmed: 38858682
doi: 10.1186/s40001-024-01916-2
pii: 10.1186/s40001-024-01916-2
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
322Subventions
Organisme : Shandong Province School Health Association Subject
ID : JKZX2023133
Organisme : Nursery Project of Taian City Central Hospital
ID : 2022MPM06
Informations de copyright
© 2024. The Author(s).
Références
Cui M, Ni Q, Wang Q. Review of intervention methods for language and communication disorders in children with autism spectrum disorders. PeerJ. 2023;11: e15735.
pubmed: 37576502
pmcid: 10422951
doi: 10.7717/peerj.15735
Hirota T, King BH. Autism spectrum disorder: a review. JAMA. 2023;329(2):157–68.
pubmed: 36625807
doi: 10.1001/jama.2022.23661
Uljarević M, Phillips JM, Schuck RK, Schapp S, Solomon EM, Salzman E, Allerhand L, Libove RA, Frazier TW, Hardan AY. Exploring social subtypes in autism spectrum disorder: a preliminary study. Autism Res. 2020;13(8):1335–42.
pubmed: 32187854
doi: 10.1002/aur.2294
Cheroni C, Caporale N, Testa G. Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology. Mol Autism. 2020;11(1):69.
pubmed: 32912338
pmcid: 7488083
doi: 10.1186/s13229-020-00370-1
Morrison KE, DeBrabander KM, Jones DR, Faso DJ, Ackerman RA, Sasson NJ. Outcomes of real-world social interaction for autistic adults paired with autistic compared to typically developing partners. Autism. 2020;24(5):1067–80.
pubmed: 31823656
doi: 10.1177/1362361319892701
Baird G, Norbury CF. Social (pragmatic) communication disorders and autism spectrum disorder. Arch Dis Child. 2016;101(8):745–51.
pubmed: 26699538
doi: 10.1136/archdischild-2014-306944
Berry K, Russell K, Frost K. Restricted and repetitive behaviors in autism spectrum disorder: a review of associated features and presentation across clinical populations. Curr Dev Disord Rep. 2018;5:108–15.
doi: 10.1007/s40474-018-0139-0
Kojovic N, Ben Hadid L, Franchini M, Schaer M. Sensory processing issues and their association with social difficulties in children with autism spectrum disorders. J Clin Med. 2019;8(10):1508.
pubmed: 31547076
pmcid: 6833094
doi: 10.3390/jcm8101508
Salari N, Rasoulpoor S, Rasoulpoor S, Shohaimi S, Jafarpour S, Abdoli N, Khaledi-Paveh B, Mohammadi M. The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis. Ital J Pediatr. 2022;48(1):112.
pubmed: 35804408
pmcid: 9270782
doi: 10.1186/s13052-022-01310-w
McCarty DCA. Tools of the traits: the impact of sex and IQ on autism spectrum disorder assessment and diagnostic measures. The University of Utah. 2021.
Maenner MJ. Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveill Summ. 2020;69:1–11.
pubmed: 32214087
pmcid: 7119644
doi: 10.15585/mmwr.ss6904a1
Malik-Soni N, Shaker A, Luck H, Mullin AE, Wiley RE, Lewis M, Fuentes J, Frazier TW. Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood. Pediatric Res. 2022;91(5):1028–35.
doi: 10.1038/s41390-021-01465-y
Blacher J, Christensen L. Sowing the seeds of the autism field: Leo Kanner (1943). Intellect Dev Disabil. 2011;49(3):172–91.
pubmed: 21639744
doi: 10.1352/1934-9556-49.3.172
Hippler K. Hans asperger and his patients. In: Just MA, Pelphrey KA, editors. Development and brain systems in autism. New York: Psychology Press; 2013. p. 13–31.
Wing L, Potter D. The epidemiology of autistic spectrum disorders: is the prevalence rising? Ment Retard Dev Disabil Res Rev. 2002;8(3):151–61.
pubmed: 12216059
doi: 10.1002/mrdd.10029
Sarrett JC. Trapped children: popular images of children with autism in the 1960s and 2000s. J Med Humanit. 2011;32:141–53.
pubmed: 21225325
doi: 10.1007/s10912-010-9135-z
Yuen RKC, Merico D, Bookman M, Howe JL, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017;20(4):602–11.
pmcid: 5501701
doi: 10.1038/nn.4524
Frewer V, Gilchrist CP, Collins SE, Williams K, Seal ML, Leventer RJ, Amor DJ. A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder. J Child Psychol Psychiatry. 2021;62(11):1339–52.
pubmed: 34426966
doi: 10.1111/jcpp.13510
Abbeduto L, McDuffie A, Thurman AJ. The fragile X syndrome–autism comorbidity: what do we really know? Front Genet. 2014;5:355.
pubmed: 25360144
pmcid: 4199273
doi: 10.3389/fgene.2014.00355
Ehninger D, Silva AJ. Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders. Trends Mol Med. 2011;17(2):78–87.
pubmed: 21115397
doi: 10.1016/j.molmed.2010.10.002
Neul JL. The relationship of Rett syndrome and MECP2 disorders to autism. Dialog Clin Neurosci. 2012;14(3):253–62.
doi: 10.31887/DCNS.2012.14.3/jneul
Loureiro LO, Howe JL, Reuter MS, Iaboni A, Calli K, Roshandel D, Pritišanac I, Moses A, Forman-Kay JD, Trost B, Zarrei M, Rennie O, Lau LYS, et al. A recurrent SHANK3 frameshift variant in autism spectrum disorder. NPJ Genom Med. 2021;6(1):91.
pubmed: 34737294
pmcid: 8568906
doi: 10.1038/s41525-021-00254-0
Cooper JN, Mittal J, Sangadi A, Klassen DL, King AM, Zalta M, Mittal R, Eshraghi AA. Landscape of NRXN1 gene variants in phenotypic manifestations of autism spectrum disorder: a systematic review. J Clin Med. 2024;13(7):2067.
pubmed: 38610832
pmcid: 11012327
doi: 10.3390/jcm13072067
Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C, Jagline H, Chelly J, Shaw M, Laumonnier F, et al. Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. Hum Mutat. 2019;40(11):2021–32.
pubmed: 31184401
doi: 10.1002/humu.23836
Uchigashima M, Cheung A, Futai K. Neuroligin-3: a circuit-specific synapse organizer that shapes normal function and autism spectrum disorder-associated dysfunction. Front Mol Neurosci. 2021;14:749164.
pubmed: 34690695
pmcid: 8526735
doi: 10.3389/fnmol.2021.749164
Fyke W, Velinov M. FMR1 and autism, an intriguing connection revisited. Genes. 2021;12(8):1218.
pubmed: 34440392
pmcid: 8394635
doi: 10.3390/genes12081218
DeSpenza T Jr, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, et al. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends Neurosci. 2021;44(12):961–76.
pubmed: 34625286
pmcid: 8692171
doi: 10.1016/j.tins.2021.08.007
Weissberg O, Elliott E. The mechanisms of CHD8 in neurodevelopment and autism spectrum disorders. Genes. 2021;12(8):1133.
pubmed: 34440307
pmcid: 8393912
doi: 10.3390/genes12081133
McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A. Rare copy number variation in cerebral palsy. Eur J Hum Genet. 2014;22(1):40–5.
pubmed: 23695280
doi: 10.1038/ejhg.2013.93
Wise A, Tenezaca L, Fernandez RW, Schatoff E, Flores J, Ueda A, Zhong X, Wu C-F, Simon AF, Venkatesh T. Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, and impaired adult social behavior and activity patterns. J Neurogenet. 2015;29(2–3):135–43.
pubmed: 26100104
pmcid: 4747641
doi: 10.3109/01677063.2015.1064916
LeClair J, Janusonis S, Kim HS. Gene–culture interactions: a multi-gene approach. Cult Brain. 2014;2:122–40.
doi: 10.1007/s40167-014-0022-8
Chun H, Leung C, Wen SW, McDonald J, Shin HH. Maternal exposure to air pollution and risk of autism in children: a systematic review and meta-analysis. Environ Pollut. 2020;256:113307.
pubmed: 31733973
doi: 10.1016/j.envpol.2019.113307
Pinto-Martin JA, Dunkle M, Earls M, Fliedner D, Landes C. Developmental stages of developmental screening: steps to implementation of a successful program. Am J Public Health. 2005;95(11):1928–32.
pubmed: 16195523
pmcid: 1449461
doi: 10.2105/AJPH.2004.052167
Wender CL, Veenstra-VanderWeele J. Challenge and potential for research on gene-environment interactions in autism spectrum disorder. In: Tolan P, Leventhal B, editors. Gene-environment transactions in developmental psychopathology. Advances in Development and Psychopathology: Brain Research Foundation Symposium Series. Berlin: Springer; 2017. p. 157–76.
doi: 10.1007/978-3-319-49227-8_9
Kakkar D. Diagnostic assessment techniques and non-invasive biomarkers for autism spectrum disorder. Int J E-Health Med Commun. 2019;10(3):79–95.
doi: 10.4018/IJEHMC.2019070105
Falkmer T, Anderson K, Falkmer M, Horlin C. Diagnostic procedures in autism spectrum disorders: a systematic literature review. Eur Child Adolesc Psychiatry. 2013;22:329–40.
pubmed: 23322184
doi: 10.1007/s00787-013-0375-0
Bauer SC, Msall ME. Genetic testing for autism spectrum disorders. Dev Disabil Res Rev. 2011;17(1):3–8.
pubmed: 22447748
doi: 10.1002/ddrr.131
Costales JL, Kolevzon A. Phelan–McDermid syndrome and SHANK3: implications for treatment. Neurotherapeutics. 2015;12(3):620–30.
pubmed: 25894671
pmcid: 4489957
doi: 10.1007/s13311-015-0352-z
Hiremath CS, Sagar KJV, Yamini B, Girimaji AS, Kumar R, Sravanti SL, Padmanabha H, Vykunta Raju K, Kishore MT, Jacob P. Emerging behavioral and neuroimaging biomarkers for early and accurate characterization of autism spectrum disorders: a systematic review. Transl Psychiatry. 2021;11(1):42.
pubmed: 33441539
pmcid: 7806884
doi: 10.1038/s41398-020-01178-6
Walsh MJ, Wallace GL, Gallegos SM, Braden BB. Brain-based sex differences in autism spectrum disorder across the lifespan: a systematic review of structural MRI, fMRI, and DTI findings. NeuroImage Clin. 2021;31:102719.
pubmed: 34153690
pmcid: 8233229
doi: 10.1016/j.nicl.2021.102719
Grynszpan O, Weiss PL, Perez-Diaz F, Gal E. Innovative technology-based interventions for autism spectrum disorders: a meta-analysis. Autism. 2014;18(4):346–61.
pubmed: 24092843
doi: 10.1177/1362361313476767
Kollias K-F, Syriopoulou-Delli CK, Sarigiannidis P, Fragulis GF. The contribution of machine learning and eye-tracking technology in autism spectrum disorder research: a systematic review. Electronics. 2021;10(23):2982.
doi: 10.3390/electronics10232982
Cañete R, Peralta E. Assistive technology to improve collaboration in children with ASD: state-of-the-art and future challenges in the smart products sector. Sensors. 2022;22(21):8321.
pubmed: 36366019
pmcid: 9653791
doi: 10.3390/s22218321
Roane HS, Fisher WW, Carr JE. Applied behavior analysis as treatment for autism spectrum disorder. J Pediatr. 2016;175:27–32.
pubmed: 27179552
doi: 10.1016/j.jpeds.2016.04.023
Stephanie T. Evidence-based interventions for ASD: A focus on applied behavior analysis (ABA) interventions. Психология Журнал Высшей школы экономики. 2018;15(4):711–27.
doi: 10.17323/1813-8918-2018-4-711-727
Reichow B, Steiner AM, Volkmar F. Social skills groups for people aged 6 to 21 with autism spectrum disorders (ASD). Campbell Syst Rev. 2012;8(1):1–76.
doi: 10.4073/csr.2012.16
Bottema-Beutel K, Park H, Kim SY. Commentary on social skills training curricula for individuals with ASD: social interaction, authenticity, and stigma. J Autism Dev Disord. 2018;48:953–64.
pubmed: 29170937
doi: 10.1007/s10803-017-3400-1
Liu LJ. Virtual reality for social skills training of children and adolescents with ASD: a systematic review. J Educ Humanit Soc Sci. 2023;8:2061–7.
Hellings JJW. Pharmacotherapy in autism spectrum disorders, including promising older drugs warranting trials. World J Psychiatry. 2023;13(6):262.
pubmed: 37383284
pmcid: 10294139
doi: 10.5498/wjp.v13.i6.262
Gupta N, Gupta M. Off-label psychopharmacological interventions for autism spectrum disorders: strategic pathways for clinicians. CNS Spectr. 2024;29(1):10–25.
pubmed: 37539695
doi: 10.1017/S1092852923002389
Xiao L, Huo X, Wang Y, Li W, Li M, Wang C, Wang F, Sun T. A bibliometric analysis of global research status and trends in neuromodulation techniques in the treatment of autism spectrum disorder. BMC Psychiatry. 2023;23(1):183.
pubmed: 36941549
pmcid: 10026211
doi: 10.1186/s12888-023-04666-3
Urrea AL, Fernández-Torres V, Rodríguez-Ortiz IR, Saldaña D. The use of technology-assisted intervention in vocabulary learning for children with autism spectrum disorder: a systematic review. Front Psychol. 2024;15:1370965.
pubmed: 38817831
pmcid: 11137377
doi: 10.3389/fpsyg.2024.1370965
Aldridge G, Tomaselli A, Nowell C, Reupert A, Jorm A, Yap MBH. Engaging parents in technology-assisted interventions for childhood adversity: systematic review. J Med Internet Res. 2024;26: e43994.
pubmed: 38241066
pmcid: 10837762
doi: 10.2196/43994
Karhu E, Zukerman R, Eshraghi RS, Mittal J, Deth RC, Castejon AM, Trivedi M, Mittal R, Eshraghi AA. Nutritional interventions for autism spectrum disorder. Nutr Rev. 2020;78(7):515–31.
pubmed: 31876938
doi: 10.1093/nutrit/nuz092
Srivastava K. Autism and diet: an insight approach. In: Emerging trends in the diagnosis and intervention of neurodevelopmental disorders. IGI Global; 2019. p. 194–210.
Cassimos DC, Polychronopoulou SA, Tripsianis GI, Syriopoulou-Delli CK. Views and attitudes of teachers on the educational integration of students with autism spectrum disorders. Dev Neurorehabilit. 2015;18(4):241–51.
doi: 10.3109/17518423.2013.794870
Syvan A, Pearlman-Avnion S. Principles for successful employment integration of people with HF-ASD. In: Lowinger S, Pearlman-Avnion S, editors. Autism in adulthood. Berlin: Springer; 2019. p. 133–54.
doi: 10.1007/978-3-030-28833-4_7
Loth E, Murphy DG, Spooren WJ. Defining precision medicine approaches to autism spectrum disorders: concepts and challenges. Front Psychiatry. 2016;7:221408.
doi: 10.3389/fpsyt.2016.00188
Chen GT, Geschwind DH. Challenges and opportunities for precision medicine in neurodevelopmental disorders. Adv Drug Deliv Rev. 2022;191:114564.
pubmed: 36183905
pmcid: 10409256
doi: 10.1016/j.addr.2022.114564
Pérez-Cano L, Chenlo SA, Sabido-Vera R, Sirci F, Durham L, Guney E. Translating precision medicine for autism spectrum disorder: a pressing need. Drug Discov Today. 2023;28(3):103486.
pubmed: 36623795
doi: 10.1016/j.drudis.2023.103486
Pundir M, Papagerakis S, De Rosa MC, Chronis N, Kurabayashi K, Abdulmawjood S, Prince MEP, Lobanova L, Chen X, Papagerakis P. Emerging biotechnologies for evaluating disruption of stress, sleep, and circadian rhythm mechanism using aptamer-based detection of salivary biomarkers. Biotechnol Adv. 2022;59:107961.
pubmed: 35427723
doi: 10.1016/j.biotechadv.2022.107961
Pistollato F, Forbes-Hernández TY, Iglesias RC, Ruiz R, Zabaleta ME, Cianciosi D, Giampieri F, Battino M. Pharmacological, non-pharmacological and stem cell therapies for the management of autism spectrum disorders: a focus on human studies. Pharmacol Res. 2020;152:104579.
pubmed: 31790820
doi: 10.1016/j.phrs.2019.104579
Culotta L, Penzes P. Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD. Mol Autism. 2020;11(1):32.
pubmed: 32393347
pmcid: 7216514
doi: 10.1186/s13229-020-00339-0