Psychiatrie pro praxi – 3/2019

www.psychiatriepropraxi.cz  / Psychiatr. praxi 2020; 21(e3): e3–e14 / PSYCHIATRIE PRO PRAXI e11 PŘEHLEDOVÉ ČLÁNKY Klinický význam genetického testování u pacientů s poruchou autistického spektra 4. Muhle R, Trentacoste SV, Rapin I. The Genetics of Autism. Pediatrics 2004; 13: e472–e486. doi: 10.1542/peds.113.5.e472. 5. Delobel-Ayoub M, Saemundsen E, Gissler M, et al. Prevalence of Autism Spectrum Di- sorder in 7–9-Year-Old Children in Denmark, Finland, France and Iceland: A Population-Ba- sed Registries Approach Within the ASDEU Project. J Autism Dev Disord 2020; 50: 949–959. doi: 10.1007/s10803-019-04328-y. 6. Narzisi A, Posada M, Barbieri F, et al. Prevalence of Autism Spectrum Disorder in a large Italian catchment area: a school-based population study within the ASDEU project. Epi- demiol Psychiatr Sci 2020; 29: e5. doi: 10.1017/S2045796018000483. 7. Chiarotti F, Venerosi A. Epidemiology of Autism Spectrum Disorders: A Review of Wor- ldwide Prevalence Estimates Since 2014. Brain Sci 2020; 10: E274. doi: 10.3390/brains- ci10050274. 8. Volkmar FR, Reichow B, Mcpartland J. Classification of autism and related conditions: Progress, challenges, and opportunities. Dialogues Clin Neurosci 2012; 14: 229–237. ISSN: 12948322. 9. Vicari S, Napoli E, Cordeddu V, et al. Copy number variants in autism spectrum disor- ders. Prog Neuropsychopharmacol Biol Psychiatry 2019; 92: 421–427. doi: 10.1016/ j.pn - pbp.2019.02.012. 10. de Giambattista C, Ventura P, Trerotoli P, et al. Subtyping the Autism Spectrum Disor- der: Comparison of Children with High Functioning Autism and Asperger Syndrome. J Au- tism Dev Disord 2019; 49: 138–150. doi: 10.1007/s10803-018-3689-4. 11. Reichow B, Servili C, Yasamy MT, et al. Non-Specialist Psychosocial Interventions for Children and Adolescents with Intellectual Disability or Lower-Functioning Autism Spec- trum Disorders: A Systematic Review. PLoS Med 2013; 10: e1001572. doi: 10.1371/journal. pmed.1001572. 12. Xie R, Sun X, Yang L, et al. Characteristic Executive Dysfunction for High-Functioning Au- tism Sustained to Adulthood. Autism Res 2020; [Epub ahead of print]. doi: 10.1002/aur.2304. 13. Casanova MF, Casanova EL, Frye RE, et al. Editorial: Secondary vs. Idiopathic Autism. Front Psychiatry 2020; 11: 297. doi: 10.3389/fpsyt.2020.00297. 14. Hosozawa M, Sacker A, Mandy W, et al. Determinants of an autism spectrum disorder diagnosis in childhood and adolescence: Evidence from the UK Millennium Cohort Study. Autism 2020; [Epub ahead of print]. doi: 10.1177/1362361320913671. 15. Sharma SR, Gonda X, Tarazi FI. Autism Spectrum Disorder: Classification, diagnosis and therapy. Pharmacol Ther 2018; 190: 91–104. doi: 10.1016/j.pharmthera.2018.05.007. 16. Ruzzo EK, Pérez-Cano L, Jung J-Y, et al. Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. Cell 2019; 178: 850–866.e26. doi: 10.1016/j.cell.2019.07.015. 17. Guo H, Wang T, Wu H, et al. Inherited and multiple de novo mutations in autism/de- velopmental delay risk genes suggest a multifactorial model. Mol Autism 2018; 9: 64. doi: 10.1186/s13229-018-0247-z. 18. Ivanov HY, Stoyanova VK, Popov NT, et al. Autism Spectrum Disorder – A Complex Ge- netic Disorder. Folia Med (Plovdiv) 2015; 57: 19–28. doi: 10.1515/folmed-2015-0015. 19. Myers SM, Challman TD, Bernier R, et al. Insufficient Evidence for “Autism-Specific” Ge- nes. Am J Hum Genet 2020; 106: 587–595. doi: 10.1016/j.ajhg.2020.04.004. 20. Woodward KJ, Stampalia J, Vanyai H, et al. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including au- tism spectrum disorder with incomplete penetrance. Mol Genet Genomic Med 2019; 7: e00507. doi: 10.1002/mgg3.507. 21. Moreno-De-Luca A, Evans DW, Boomer KB, et al. The Role of Parental Cognitive, Beha- vioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 De- letions. JAMA Psychiatry 2015; 72: 119–126. doi: 10.1001/jamapsychiatry.2014.2147. 22. Xu D, Wang C, Kiryluk K, et al. Co-localization between Sequence Constraint and Epi- genomic Information Improves Interpretation of Whole-Genome Sequencing Data. Am J Hum Genet 2020; 106: 513–524. doi: 10.1016/j.ajhg.2020.03.003. 23. Wain KE, Azzariti DR, Goldstein JL, et al. Variant interpretation is a component of clini- cal practice among genetic counselors in multiple specialties. Genet Med 2020; 22: 785– 792. doi: 10.1038/s41436-019-0705-9. 24. Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Ge- nome Resource (ClinGen). Genet Med 2020; 22: 245–257. doi: 10.1038/s41436-019-0686-8. 25. Adang LA, Sherbini O, Ball L, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab 2017; 122: 18–32. doi: 10.1016/j.ymgme.2017.08.006 26. Schreck RR, Distèche C. Karyotyping. Current Protocols in Human Genetics 2001; 18. doi: 10.1002/0471142905.hga04as18. 27. Wayhelova M, Smetana J, Vallova V, et al. The clinical benefit of array-based compara- tive genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay. BMC Med Genomics 2019; 12: 111. doi: 10.1186/s12920-019-0559-7. 28. Liao H-M, Gau SS-F, Tsai W-C, et al. Chromosomal Abnormalities in Patients With Auti- sm Spectrum Disorders From Taiwan. Am J Med Genet B Neuropsychiatr Genet 2013; 162: 734–741. doi: 10.1002/ajmg.b.32153.