Maenner MJ, Shaw KA, Baio J, Washington A, Patrick M, DiRienzo M, et al. Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveillance Summaries. 2020;69:1–12.

Article  PubMed Central  Google Scholar 

Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, et al. Autism spectrum disorder: neuropathology and animal models. Acta Neuropathol. 2017;134:537–66.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014;94:677–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

De Rubeis S, Buxbaum JD. Genetics and genomics of autism spectrum disorder: embracing complexity. Hum Mol Genet. 2015;24:R24–31.

Article  PubMed  PubMed Central  Google Scholar 

Won H, Mah W, Kim E. Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. Front Mol Neurosci. 2013;6:19.

Article  PubMed  PubMed Central  Google Scholar 

Larsen E, Menashe I, Ziats MN, Pereanu W, Packer A, Banerjee-Basu S. A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. Mol Autism. 2016;7:44.

Article  PubMed  PubMed Central  Google Scholar 

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An J-Y, et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020;180:568–e58423.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019;4.

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 

Hulbert SW, Jiang Y. Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the Brain. Neurosci Bull. 2017;33:205–18.

Article  PubMed  PubMed Central  Google Scholar 

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014;10:e1004580.

Article  PubMed  PubMed Central  Google Scholar 

Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007;39:25–7.

Article  CAS  PubMed  Google Scholar 

Monteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017;18:147–57.

Article  CAS  PubMed  Google Scholar 

Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, et al. Phelan- McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6:39.

Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger DA, et al. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet. 1992;43:872–6.

Article  CAS  PubMed  Google Scholar 

Phelan K, McDermid HE. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012;2:186–201.

Article  CAS  PubMed  Google Scholar 

Costales JL, Kolevzon A. Phelan–McDermid Syndrome and SHANK3: Implications for Treatment. Neurotherapeutics. 2015;12:620–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zwanenburg RJ, Van Den Ruiter SAJ, Flapper BCT, Van Ravenswaaij-Arts CMA. Developmental phenotype in Phelan- McDermid (22q13.3 deletion) syndrome: A systematic and prospective study in 34 children. J Neurodev Disord. 2016;8:1–12.

Article  Google Scholar 

Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013;4:1–17.

Article  Google Scholar 

Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019;10:50.

Article  PubMed  PubMed Central  Google Scholar 

Dille Y, Lagae L, Swillen A, Buggenhout G, Van. Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome. Dev Med Child Neurol. 2023;65:917–25.

Article  PubMed  Google Scholar 

Kohlenberg TM, Trelles MP, McLarney B, Betancur C, Thurm A, Kolevzon A. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. J Neurodev Disord. 2020;12:7.

Article  PubMed  PubMed Central  Google Scholar 

Landlust AM, Koza SA, Carbin M, Walinga M, Robert S, Cooke J, et al. Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey. Eur J Med Genet. 2023;66:104771.

Article  PubMed  Google Scholar 

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, et al. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018;9:31.

Article  PubMed  PubMed Central  Google Scholar 

Reierson G, Bernstein J, Froehlich-Santino W, Urban A, Purmann C, Berquist S, et al. Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome). J Psychiatr Res. 2017;91:139–44.

Article  PubMed  PubMed Central  Google Scholar 

Ferhat A-T, Verpy E, Biton A, Forget B, De Chaumont F, Mueller F, et al. Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice. Front Mol Neurosci. 2023;16:1–17.

Article  Google Scholar 

Bauer HF, Delling JP, Bockmann J, Boeckers TM, Schön M. Development of sex- and genotype-specific behavioral phenotypes in a Shank3 mouse model for neurodevelopmental disorders. Front Behav Neurosci. 2023;16:1–14.

Article  Google Scholar 

Thabault M, Turpin V, Balado É, Fernandes-Gomes C, Huot A-L, Cantereau A, et al. Age-related behavioural and striatal dysfunctions in Shank3∆C/∆C mouse model of autism spectrum disorder. Eur J Neurosci. 2023;57:607–18.

Article  CAS  PubMed  Google Scholar 

Contestabile A, Casarotto G, Musardo S, Espinosa P, Maltese F, Jiang Yhui, et al. Shank3 deficits in the anteromedial bed nucleus of the stria terminalis trigger an anxiety phenotype in mice. Eur J Neurosci. 2023;57:1966–79.

Article  CAS  PubMed  Google Scholar 

Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M, et al. Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. J Biol Chem. 1999;274:29510–8.

Article  CAS  PubMed  Google Scholar 

Naisbitt S, Kim E, Tu JC, Xiao B, Sala C, Valtschanoff J, et al. Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron. 1999;23:569–82.

Article  CAS  PubMed  Google Scholar 

Grabrucker AM, Schmeisser MJ, Schoen M, Boeckers TM. Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. Trends Cell Biol. 2011;21:594–603.

Article  CAS  PubMed  Google Scholar 

Wang X, Xu Q, Bey AL, Lee Y, Jiang YH. Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice. Mol Autism. 2014;5:1–14.

Article