Diagnosis Autism Spectrum Disorder

Oleh :

dr. Irwan Supriyanto PhD SpKJ

Penegakan diagnosis autism spectrum disorder (ASD) adalah berdasarkan konfirmasi gejala klinis seperti gangguan komunikasi dan interaksi sosial misalnya gangguan berbahasa dan tidak ada kontak mata, perilaku/ritual repetitif yang kaku, dan preokupasi berlebihan pada objek, tekstur, atau warna.

Gejala-gejala ini ditemukan baik berdasarkan observasi langsung terhadap pasien atau berdasarkan laporan dari orang tua atau caregiver, dan riwayat perkembangan anak.[7,12]

Kriteria diagnosis terbaru yang digunakan adalah berdasarkan kriteria diagnosis dalam DSM 5 atau ICD 11. Untuk membantu menegakkan diagnosis bisa digunakan alat bantu instrumen, namun belum ada pemeriksaan fisik atau penunjang yang spesifik untuk ASD.

Anamnesis

Referensi

1. Subramanyam AA, Mukherjee A, Dave M, Chavda K. Clinical Practice Guidelines for Autism Spectrum Disorders. Indian J Psychiatry 2019;61:254–69. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345133/
2. CDC. Recommendations & Guidelines. Autism Spectrum Disorder (ASD). Centers for Disease Control and Prevention. 2020. https://www.cdc.gov/ncbddd/autism/hcp-recommendations.html
7. APA. Diagnostic and statistical manual of mental disorders (5th ed.). Arlington VA: American Psychiatric Publishing; 2013.
12. Navarro-Pardo E, López-Ramón MF, Alonso-Esteban Y, Alcantud-Marín F. Diagnostic Tools for Autism Spectrum Disorders by Gender: Analysis of Current Status and Future Lines. Children 2021;8:262. https://www.mdpi.com/2227-9067/8/4/262/pdf
13. Ivanov I, Pacheva I, Timova E, Iordanova R, Galabova F, Gaberova K, et al. The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria. Diagnostics 2021;11:106. https://www.mdpi.com/2075-4418/11/1/106/pdf
14. Listik E, Listik M. Autism Spectrum Disorder: A Systematic Review on how Diagnosis, Treatment, and Etiology have been considered in Brazil. 2020. https://www.medrxiv.org/content/10.1101/2020.10.17.20214437v1
15. Hayes J, Ford T, Rafeeque H, Russell G. Clinical practice guidelines for diagnosis of autism spectrum disorder in adults and children in the UK: a narrative review. BMC Psychiatry 2018;18:222. https://pubmed.ncbi.nlm.nih.gov/30005612/
16. Harris HK, Sideridis GD, Barbaresi WJ, Harstad E. Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder. Pediatrics 2020;146:e20193211. https://pediatrics.aappublications.org/content/pediatrics/early/2020/09/14/peds.2019-3211.
17. Munnich A, Demily C, et al. Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Mol Autism 2019;10:33. https://pubmed.ncbi.nlm.nih.gov/31406558/
18. Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Frontiers in Pediatrics 2021;9:52. https://www.frontiersin.org/articles/10.3389/fped.2021.526779/full
19. Haendel AD, Barrington A, et al. Changes in Electroencephalogram Coherence in Adolescents With Autism Spectrum Disorder After a Social Skills Intervention. Autism Res 2021;14:787–803. https://pubmed.ncbi.nlm.nih.gov/33398936/
20. Bonino AY, Hemann A, Mood D, Kay E, Pancoast ES, Sommerfeldt KK. Visual Reinforcers Designed for Children with Developmental Disabilities. J Early Hear Detect Interv 2021;6:69–76. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061901/
21. WHO. International Classification of Disease 11 for Mortality and Morbidity Statistic. 2019. https://icd.who.int/browse11/l-m/en
22. Salim H, Soetjiningsih S, Windiani IGAT, Widiana IGR, Aspr P. Validation of the Indonesian Version of Modified Checklist for Autism in Toddlers: a diagnostic study. Paediatrica Indonesiana 2020;60:160–6. https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2326
23. Windiani I, Soetjiningsih S, Adnyana I, Lestari K. Indonesian Modified Checklist for Autism in Toddler, Revised with Follow-Up (M-CHAT-R/F) for Autism Screening in Children at Sanglah General Hospital, Bali-Indonesia. Bali Medical Journal.2016. https://ojs.unud.ac.id/index.php/bmj/article/view/21968
29. Augustyn M, von Hahn E. Autism spectrum disorder: Evaluation and diagnosis. Uptodate. 2021
30. Afroz S, Parato J, Shen H, Smith SS. Synaptic pruning in the female hippocampus is triggered at puberty by extrasynaptic GABAA receptors on dendritic spines. eLife 2016;5:e15106. https://pubmed.ncbi.nlm.nih.gov/27136678/
31. Laverty C, Oliver C, Moss J, Nelson L, Richards C. Persistence and predictors of self-injurious behaviour in autism: a ten-year prospective cohort study. Molecular Autism 2020;11:8. https://molecularautism.biomedcentral.com/articles/10.1186/s13229-019-0307-z
32. Grossi E, Caminada E, Goffredo M, Vescovo B, Castrignano T, Piscitelli D, et al. Patterns of Restricted and Repetitive Behaviors in Autism Spectrum Disorders: A Cross-Sectional Video Recording Study. Preliminary Report. Brain Sciences 2021;11:678. https://www.mdpi.com/2076-3425/11/6/678
33. Niculae A-Ștefan. Anthropometric measurements in children with ASD point to genomic imprinting imbalance. Psychiatry and Clinical Psychology; 2020 http://medrxiv.org/lookup/doi/10.1101/2020.04.07.20043224
34. Xiong J, Chen S, Pang N, Deng X, Yang L, He F, et al. Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes. Frontiers in Neuroscience 2019;13:349. https://www.frontiersin.org/articles/10.3389/fnins.2019.00349/full
35. Wilson RB, McCracken JT, Rinehart NJ, Jeste SS. What’s missing in autism spectrum disorder motor assessments? J Neurodevelop Disord 2018;10:33. https://pubmed.ncbi.nlm.nih.gov/30541423/
36. Freeman BJ, Cronin P. Standardized Assessment of Social Skills in Autism Spectrum Disorder [Internet]. In: Leaf JB, editor. Handbook of Social Skills and Autism Spectrum Disorder : Assessment, Curricula, and Intervention. Cham: Springer International Publishing; 2017. page 83–96. https://doi.org/10.1007/978-3-319-62995-7_6
37. Zhu J, Hua X, Yang T, Guo M, Li Q, Xiao L, et al. Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder. J Autism Dev Disord 2021.https://doi.org/10.1007/s10803-021-05066-w
38. Augustyn M, von Hahn E. Autism spectrum disorder: Evaluation and diagnosis. Uptodate. 2021.

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