Scientific Papers

Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder | Journal of Neurodevelopmental Disorders


  • Bauman ML. Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics. 2010;7:320–7.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Doshi-Velez F, Ge Y, Kohane I. Comorbidity clusters in Autism Spectrum disorders: an Electronic Health Record Time-Series Analysis. Pediatrics. 2014;133:e54–63.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Khachadourian V, Mahjani B, Sandin S, Kolevzon A, Buxbaum JD, Reichenberg A, et al. Comorbidities in autism spectrum disorder and their etiologies. Transl Psychiatry. 2023;13. https://doi.org/10.1038/s41398-023-02374-w.

  • Tanner A, Dounavi K. The emergence of autism symptoms prior to 18 months of age: a systematic literature review. J Autism Dev Disord. 2021;51:973–93.

    Article 
    PubMed 

    Google Scholar
     

  • Regev O, Cohen G, Hadar A, Schuster J, Flusser H, Michaelovski A, et al. Association between abnormal fetal Head Growth and Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2021;60:986–97.

    Article 
    PubMed 

    Google Scholar
     

  • Courchesne E, Gazestani VH, Lewis NE. Prenatal origins of ASD: the when, what, and how of ASD Development. Trends Neurosci. 2020;43:326–42.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Fulceri F, Guzzetta A, Athanasiadou A, Iaconianni L, Scattoni ML. Antenatal ultrasound value in risk calculation for Autism Spectrum disorder: a systematic review to support future research. Neurosci Biobehav Rev. 2018;92:83–92.

    Article 
    PubMed 

    Google Scholar
     

  • Gamliel M, Ebstein R, Yirmiya N, Mankuta D. Minor fetal sonographic findings in Autism Spectrum Disorder. Obstet Gynecol Surv. 2012;67:176–86.

    Article 
    PubMed 

    Google Scholar
     

  • Bonnet-Brilhault F, Rajerison TA, Paillet C, Guimard-Brunault M, Saby A, Ponson L, et al. Autism is a prenatal disorder: evidence from late gestation brain overgrowth. Autism Res. 2018;11:1635–42.

    Article 
    PubMed 

    Google Scholar
     

  • Blanken LME, Dass A, Alvares G, van der Ende J, Schoemaker NK, El Marroun H, et al. A prospective study of fetal head growth, autistic traits and autism spectrum disorder. Autism Res. 2018;11:602–12.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Regev O, Hadar A, Meiri G, Flusser H, Michaelovski A, Dinstein I, et al. Association between ultrasonography foetal anomalies and autism spectrum disorder. Brain. 2022;145:4519–30.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Miller MT, Strömland K, Ventura L, Johansson M, Bandim JM, Gillberg C. Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. Int J Dev Neurosci. 2005;23:201–19.

    Article 
    PubMed 

    Google Scholar
     

  • Jing X-Y, Huang L-Y, Zhen L, Han J, Li D-Z. Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series. J Obstet Gynaecol (Lahore). 2019;39:323–7.

    Article 

    Google Scholar
     

  • Gilboa Y, Perlman S, Pode-Shakked N, Pode-Shakked B, Shrim A, Azaria-Lahav E, et al. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism. Prenat Diagn. 2016;36:1027–32.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Jiang YL, Qi QW, Zhou XY, Geng FF, Bai JJ, Hao N, et al. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities]. Zhonghua Fu Chan Ke Za Zhi. 2017;52:662–8.

    CAS 
    PubMed 

    Google Scholar
     

  • Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, et al. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet. 2013;50:163–73.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Menashe I, Regev O, Hadar A, Meiri G, Michaelovski A, Dinstein I, et al. Reply: methodological drawbacks in the alleged association between foetal sonographic anomalies and autism. Brain. 2022;145:e92–4.

    Article 
    PubMed 

    Google Scholar
     

  • Neu N, Duchon J, Zachariah P. TORCH infections. Clin Perinatol. 2015;42:77–103.

    Article 
    PubMed 

    Google Scholar
     

  • De Rubeis S, Buxbaum JD. Recent advances in the Genetics of Autism Spectrum Disorder. Curr Neurol Neurosci Rep. 2015;15:36.

    Article 
    PubMed 

    Google Scholar
     

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

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Goldstein J, Ross DA, Moreno, De Luca D. Found in Translation: Autism Genetics and the Quest for Its Rosetta Stone. Biol Psychiatry 2019; 85: e29–e30.

  • Hussein Y, Tripathi U, Choudhary A, Nayak R, Peles D, Rosh I, et al. Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations. Transl Psychiatry. 2023;13:246.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Ploeger A, Raijmakers MEJ, van der Maas HLJ, Galis F. The Association between Autism and errors in early embryogenesis: what is the causal mechanism? Biol Psychiatry. 2010;67:602–7.

    Article 
    PubMed 

    Google Scholar
     

  • Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485:237–41.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    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 Central 
    PubMed 

    Google Scholar
     

  • Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022;54:1320–31.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, et al. Whole-genome sequencing in Autism identifies hot spots for De Novo Germline Mutation. Cell. 2012;151:1431–42.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Yuen RKC, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21:185–91.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, et al. Disruptive CHD8 mutations define a subtype of Autism Early in Development. Cell. 2014;158:263–76.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Cotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun. 2015;6:6404.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380–4.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, et al. Clinical presentation of a Complex Neurodevelopmental Disorder caused by mutations in ADNP. Biol Psychiatry. 2019;85:287–97.

    Article 
    PubMed 

    Google Scholar
     

  • Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, et al. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016;135:273–85.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Droogmans G, Swillen A, Van Buggenhout G. Deep phenotyping of Development, Communication and Behaviour in Phelan-McDermid syndrome. Mol Syndromol. 2019;10:294–305.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet J Rare Dis. 2015;10:105.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, et al. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int. 2016;90:203–11.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49:1593–601.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Dinstein I, Arazi A, Golan HM, Koller J, Elliott E, Gozes I, et al. The National Autism Database of Israel: a resource for studying autism risk factors, biomarkers, outcome measures, and treatment efficacy. J Mol Neurosci. 2020;70:1303–12.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30:205–23.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Albers CA, Grieve AJ. Test Review: Bayley, N. (2006). Bayley Scales of Infant and Toddler Development– Third Edition. San Antonio, TX: Harcourt Assessment. J Psychoeduc Assess 2007; 25: 180–190.

  • Warschausky, S., Raiford, S.E. (2018). Wechsler Preschool and Primary Scale of Intelligence. In: Kreutzer, J.S., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-57111-9_1606

  • Meiri G, Dinstein I, Michaelowski A, Flusser H, Ilan M, Faroy M, et al. Brief report: the Negev Hospital-University-based (HUB) autism database. J Autism Dev Disord. 2017;47:2918–26.

    Article 
    PubMed 

    Google Scholar
     

  • Zimmerman IL, Steiner VG, Pond RE. Preschool language scale- fifth edition Spanish screening test. 2011 doi:https://doi.org/10.1037/t15141-000

  • Battle DE. Diagnostic and statistical Manual of Mental disorders (DSM). CoDAS. 2013;25:191–2.

    PubMed 

    Google Scholar
     

  • Cargill Y, Morin L, Morin L, Bly S, Butt K, Cargill Y, et al. Content of a complete routine second trimester Obstetrical Ultrasound Examination and Report. J Obstet Gynaecol Can. 2009;31:272–5.

    Article 
    PubMed 

    Google Scholar
     

  • Edwards L, Hui L. First and second trimester screening for fetal structural anomalies. Semin Fetal Neonatal Med. 2018;23:102–11.

    Article 
    PubMed 

    Google Scholar
     

  • Van den Hof MC, Wilson RD, Bly S, Gagnon R, Lewthwaite MB, Lim K, et al. RETIRED: fetal soft markers in Obstetric Ultrasound. J Obstet Gynaecol Can. 2005;27:592–612.

    Article 
    PubMed 

    Google Scholar
     

  • Seeds JW. The routine or Screening Obstetrical Ultrasound Examination. Clin Obstet Gynecol. 1996;39:814–30.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Tal-Ben Ishay R, Shil A, Solomon S, Sadigurschi N, Abu-Kaf H, Meiri G, et al. Diagnostic Yield and Economic implications of whole-exome sequencing for ASD diagnosis in Israel. Genes (Basel). 2021;13:36.

    Article 
    PubMed 

    Google Scholar
     

  • Shil A, Arava N, Levi N, Levine L, Golan H, Meiri G et al. AutScore – an integrative scoring approach for prioritization of ultra-rare autism spectrum disorder candidate variants from whole exome sequencing data. medRxiv 2024; doi: https://doi.org/10.1101/2024.01.24.24301544

  • GTEx Consortium. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580–5.

    Article 

    Google Scholar
     

  • Aguet F, Brown AA, Castel SE, Davis JR, He Y, Jo B, et al. Genetic effects on gene expression across human tissues. Nature. 2017;550:204–13.

    Article 

    Google Scholar
     

  • Chen C-P, Su Y-N, Huang J-K, Liu Y-P, Tsai F-J, Yang C-K, et al. Fetal magnetic resonance imaging demonstration of Central Nervous System abnormalities and Polydactyly Associated with Joubert Syndrome. Taiwan J Obstet Gynecol. 2010;49:243–6.

    Article 
    PubMed 

    Google Scholar
     

  • Fahrner JA, Frazier A, Bachir S, Walsh MF, Applegate CD, Thompson R, et al. A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. Am J Med Genet Part A. 2012;158A:1414–21.

    Article 
    PubMed 

    Google Scholar
     

  • Bourgeron T. A synaptic trek to autism. Curr Opin Neurobiol. 2009;19:231–4.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, et al. Oligogenic effects of 16p11.2 Copy-number variation on Craniofacial Development. Cell Rep. 2019;28:3320–e33284.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010;42. https://doi.org/10.1038/ng.534.

  • Cloëtta D, Thomanetz V, Baranek C, Lustenberger RM, Lin S, Oliveri F, et al. Inactivation of mTORC1 in the developing brain causes Microcephaly and affects gliogenesis. J Neurosci. 2013;33:7799–810.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Arenella M, Mota NR, Teunissen MWA, Brunner HG, Bralten J. Autism spectrum disorder and brain volume link through a set of < scp > mTOR -related genes. J Child Psychol Psychiatry. 2023;64:1007–14.

    Article 
    PubMed 

    Google Scholar
     

  • Chen BC, Mohd Rawi R, Meinsma R, Meijer J, Hennekam RCM, van Kuilenburg ABP. Dihydropyrimidine Dehydrogenase Deficiency in two Malaysian siblings with abnormal MRI findings. Mol Syndromol. 2014;5:299–303.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Li D, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, et al. Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. Mol Cytogenet. 2022;15:33.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT, et al. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. Am J Med Genet Part A. 2014;164:2003–12.

    Article 
    CAS 

    Google Scholar
     

  • Hashem S, Nisar S, Bhat AA, Yadav SK, Azeem MW, Bagga P, et al. Genetics of structural and functional brain changes in autism spectrum disorder. Transl Psychiatry. 2020;10:229.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Strehle E-M, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen T-J, et al. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet Part A. 2012;158A:2139–51.

    Article 
    PubMed 

    Google Scholar
     

  • Mure P-Y, Mouriquand P. Upper urinary tract dilatation: prenatal diagnosis, management and outcome. Semin Fetal Neonatal Med. 2008;13:152–63.

    Article 
    PubMed 

    Google Scholar
     

  • Lelongt B, Trugnan G, Murphy G, Ronco PM. Matrix metalloproteinases MMP2 and MMP9 are produced in early stages of kidney morphogenesis but only MMP9 is required for renal Organogenesis in Vitro. J Cell Biol. 1997;136:1363–73.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, et al. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet. 2010;19:2858–66.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, et al. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. Transl Psychiatry. 2022;12:421.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Kasah S, Oddy C, Basson MA. Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes. J Anat. 2018;233:755–69.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM. Discovery of rare mutations in Autism: elucidating neurodevelopmental mechanisms. Neurotherapeutics. 2015;12:553–71.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Courchesne E, Pramparo T, Gazestani VH, Lombardo MV, Pierce K, Lewis NE. The ASD living Biology: from cell proliferation to clinical phenotype. Mol Psychiatry. 2019;24:88–107.

    Article 
    PubMed 

    Google Scholar
     

  • Guo H, Wang T, Wu H, Long M, Coe BP, Li H, et al. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Mol Autism. 2018;9:64.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med. 2019;21:1611–20.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Gazestani VH, Pramparo T, Nalabolu S, Kellman BP, Murray S, Lopez L, et al. A perturbed gene network containing PI3K–AKT, RAS–ERK and WNT–β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity. Nat Neurosci. 2019;22:1624–34.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of Autism. JAMA. 2014;311:1770.

    Article 
    CAS 
    PubMed Central 
    PubMed 

    Google Scholar
     

  • Colvert E, Tick B, McEwen F, Stewart C, Curran SR, Woodhouse E, et al. Heritability of Autism Spectrum Disorder in a UK Population-based twin sample. JAMA Psychiatry. 2015;72:415.

    Article 
    PubMed Central 
    PubMed 

    Google Scholar
     



  • Source link