American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5. 5th ed. Arlington: American Psychiatric Association; 2013.

Christensen DL, Bilder DA, Zahorodny W, Pettygrove S, Durkin MS, Fitzgerald RT, et al. Prevalence and characteristics of autism spectrum disorder among 4-year-old children in the autism and developmental disabilities monitoring network. J Dev Behav Pediatr. 2016;37(1):1–8.

Article  PubMed  Google Scholar 

Zeidan J, Fombonne E, Scorah J, Ibrahim A, Durkin MS, Saxena S, et al. Global prevalence of autism: a systematic review update. Autism Res. 2022;15(5):778–90.

Article  PubMed  PubMed Central  Google Scholar 

McCracken JT, Anagnostou E, Arango C, Dawson G, Farchione T, Mantua V, et al. Drug development for autism spectrum disorder (ASD): progress, challenges, and future directions. Eur Neuropsychopharmacol. 2021;48:3–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gogate A, Kaur K, Khalil R, Bashtawi M, Morris MA, Goodspeed K, et al. The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort. Npj Genom Med. 2024;9(1):1–22.

Google Scholar 

Willsey HR, Willsey AJ, Wang B, State MW. Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. Nat Rev Neurosci. 2022;23(6):323–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180(3):568–e58423.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet. 2014;46(8):881–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci. 2011;15(9):409–16.

Article  PubMed  PubMed Central  Google Scholar 

Kazdoba TM, Leach PT, Crawley JN. Behavioral phenotypes of genetic mouse models of autism. Genes Brain Behav. 2016;15(1):7–26.

Article  CAS  PubMed  Google Scholar 

Möhrle D, Fernández M, Peñagarikano O, Frick A, Allman B, Schmid S. What we can learn from a genetic rodent model about autism. Neurosci Biobehavioral Reviews. 2020;109:29–53.

Article  Google Scholar 

Kas MJ, Glennon JC, Buitelaar J, Ey E, Biemans B, Crawley J, et al. Assessing behavioural and cognitive domains of autism spectrum disorders in rodents: current status and future perspectives. Psychopharmacology. 2014;231(6):1125–46.

Article  CAS  PubMed  Google Scholar 

Whitehouse CM, Lewis MH. Repetitive behavior in neurodevelopmental disorders: clinical and translational findings. Behav Anal. 2015;38(2):163–78.

Article  PubMed  PubMed Central  Google Scholar 

Sundberg M, Sahin M. Cerebellar development and autism spectrum disorder in tuberous sclerosis complex. J Child Neurol. 2015;30(14):1954–62.

Article  PubMed  PubMed Central  Google Scholar 

Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, et al. Autism symptoms in fragile X syndrome. J Child Neurol. 2017;32(10):903–9.

Article  PubMed  Google Scholar 

Jamain S, Radyushkin K, Hammerschmidt K, Granon S, Boretius S, Varoqueaux F, et al. Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc Natl Acad Sci U S A. 2008;105(5):1710–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism. 2013;4:17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Radyushkin K, Hammerschmidt K, Boretius S, Varoqueaux F, El-Kordi A, Ronnenberg A, et al. Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit. Genes Brain Behav. 2009;8(4):416–25.

Article  CAS  PubMed  Google Scholar 

Specchio N, Pietrafusa N, Trivisano M, Moavero R, De Palma L, Ferretti A, et al. Autism and epilepsy in patients with tuberous sclerosis complex. Front Neurol. 2020;11:639.

Article  PubMed  PubMed Central  Google Scholar 

Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345–56. https://doi.org/10.1056/NEJMra055323

Kútna V, O’Leary VB, Newman E, Hoschl C, Ovsepian SV. Revisiting brain tuberous sclerosis complex in rat and human: shared molecular and cellular pathology leads to distinct neurophysiological and behavioral phenotypes. Neurotherapeutics. 2021;18(2):845–58.

Article  PubMed  PubMed Central  Google Scholar 

Jeste SS, Varcin KJ, Hellemann GS, Gulsrud AC, Bhatt R, Kasari C, et al. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016;87(8):766–72.

Article  PubMed  PubMed Central  Google Scholar 

Gadad BS, Hewitson L, Young KA, German DC. Neuropathology and animal models of autism: genetic and environmental factors. Autism Res Treat. 2013;2013:731935.

PubMed  PubMed Central  Google Scholar 

Palavra F, Robalo C, Reis F. Recent advances and challenges of mTOR inhibitors use in the treatment of patients with tuberous sclerosis complex. Oxidative Med Cell Longev. 2017;2017(1):9820181.

Article  Google Scholar 

Switon K, Kotulska K, Janusz-Kaminska A, Zmorzynska J, Jaworski J. Molecular neurobiology of mTOR. Neuroscience. 2017;341:112–53.

Article  CAS  PubMed  Google Scholar 

Lipton JO, Sahin M. The neurology of mTOR. Neuron. 2014;84(2):275–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Eker R, Mossige J. A dominant gene for renal adenomas in the rat. Nature. 1961;189(4767):858–9.

Article  Google Scholar 

Yeung RS, Xiao GH, Jin F, Lee WC, Testa JR, Knudson AG. Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. Proc Natl Acad Sci USA. 1994;91(24):11413–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Granak S, Tuckova K, Kutna V, Vojtechova I, Bajkova L, Petrasek T, et al. Developmental effects of constitutive mTORC1 hyperactivity and environmental enrichment on structural synaptic plasticity and behaviour in a rat model of autism spectrum disorder. Eur J Neurosci. 2023;57(1):17–31.

Article  CAS  PubMed  Google Scholar 

Chi OZ, Wu CC, Liu X, Rah KH, Jacinto E, Weiss HR. Restoration of normal cerebral oxygen consumption with rapamycin treatment in a rat model of autism–tuberous sclerosis. Neuromolecular Med. 2015;17(3):305–13.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chi OZ, Liu X, Fortus H, Werlen G, Jacinto E, Weiss HR. Inhibition of p70 ribosomal S6 kinase (S6K1) reduces cortical blood flow in a rat model of autism-tuberous sclerosis. Neuromolecular Med. 2024;26(1):10.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kútna V, Uttl L, Waltereit R, Krištofiková Z, Kaping D, Petrásek T, et al. Tuberous sclerosis (tsc2+/-) model Eker rats reveals extensive neuronal loss with microglial invasion and vascular remodeling related to brain neoplasia. Neurotherapeutics. 2020;17(1):329–39.

Article  PubMed  Google Scholar 

Von Der Brelie C, Waltereit R, Zhang L, Beck H, Kirschstein T. Impaired synaptic plasticity in a rat model of tuberous sclerosis. Eur J Neurosci. 2006;23(3):686–92.