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Autism

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Autism is a pervasive developmental disorder, defined by impairments in social and communication function and repetitive and stereotyped behavioral patterns. It occurs in approximately 7–40 out of 10,000 persons. Autism spectrum disorders (ASDs) represent a heterogeneous group of neurodevelopmental disorders, including autism, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified, and are characterized by social and communication deficits accompanied by repetitive and stereotype behaviors, with onset before 3 years of age (American Psychiatric Association 2013; DiCicco-Bloom et al. 2006; Caglayan 2010). The prevalence of autism spectrum disorders is at least 5–6/1,000 and may be higher (Bryson and Smith 1998).

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References

  • Agency for Healthcare Research and Quality. (2014). Therapies for children with autism spectrum disorder: Behavioral interventions update (AHRQ publication, Vol. 14-EF). Rockville: Agency for Healthcare Research and Quality.

    Google Scholar 

  • American Psychiatric Association. (2013). Autism spectrum disorder. In Diagnostic and statistical manual of mental disorders (5th ed., p. 50). Arlington: American Psychiatric Association.

    Google Scholar 

  • Anagnostou, E., Zwaigenbaum, L., Szatmari, P., et al. (2014). Autism spectrum disorder: Advances in evidence-based practice. Canadian Medical Association Journal, 186, 509–519.

    Article  PubMed  PubMed Central  Google Scholar 

  • Aneja, A., & Tierney, E. (2008). Autism: The role of cholesterol in treatment. International Review of Psychiatry, 20, 165–170.

    Article  PubMed  Google Scholar 

  • Asperger, H. (1944). Autistic psychopathy in childhood. In U. Frith (Ed.), Autism and Asperger syndrome (trans & annotated: Frith, U., 1991). Cambridge, UK: Cambridge University Press.

    Google Scholar 

  • Augustyn, M. (2014). Autism spectrum disorder: Diagnosis. UpToDate, 9 Sept 2014.

    Google Scholar 

  • Baieli, S., Pavone, L., Meli, C., et al. (2003). Autism and phenylketonuria. Journal of Autism and Developmental Disorders, 33, 201–204.

    Article  PubMed  Google Scholar 

  • Bailey, A., Phillips, W., & Rutter, M. (1996). Autism: Toward an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. Journal of Child Psychology and Psychiatry, 37, 89–126.

    Article  CAS  PubMed  Google Scholar 

  • Baker, Z., & Jeste, S. S. (2015). Diagnosis and management of autism spectrum disorder in the era of genomics. Rare disorders can pave the way for targeted treatments. Pediatric Clinics of North America, 62, 607–618.

    Article  PubMed  Google Scholar 

  • Battaglia, A. (2008). The inv dup (15) or idic (15) syndrome (tetrasomy 15q). Orphanet Journal of Rare Diseases, 19, 3.

    Google Scholar 

  • Ben Shachar, S., Lanpher, B., German, J. R., et al. (2009). Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Journal of Medical Genetics, 46, 382–388.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bennetto, L., & Rogers, S. J. (2001). Autism spectrum disorders, Chapter 55. In J. L. Jacobson (Ed.), Psychiatric secrets (2nd ed., pp. 295–302). Philadelphia: Hanley and Belfus.

    Google Scholar 

  • Bolton, P., Macdonald, H., Pickles, A., et al. (1994). A case–control family history study of autism. Journal of Child Psychology and Psychiatry, 35, 877–900.

    Article  CAS  PubMed  Google Scholar 

  • Bryson, S., & Smith, I. (1998). Epidemiology of autism: Prevalence, associated characteristics, and implications for research and service delivery. Mental Retardation and Developmental Disabilities Research Reviews, 4, 97–103.

    Article  Google Scholar 

  • Butler, M. G., Dasouki, M. J., Zhou, X. P., et al. (2005). Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. Journal of Medical Genetics, 42, 318–321.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Buxbaum, J. D., Cai, G., Chaste, P., et al. (2007). Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 144B, 484–891.

    Article  CAS  Google Scholar 

  • Caglayan, A. O. (2010). Genetic causes of syndromic and non-syndromic autism. Developmental Medicine and Child Neurology, 52, 130–138.

    Article  PubMed  Google Scholar 

  • Carter, M. T., & Scherer, S. W. (2013). Autism spectrum disorder in the genetics clinic: A review. Clinical Genetics, 83, 399–407.

    Article  CAS  PubMed  Google Scholar 

  • Christian, S. L., Brune, C. W., Sudi, J., et al. (2008). Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry, 63, 1111–1117.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cohen, D. J., & Volkmar, F. R. (Eds.). (1997). Handbook of autism and pervasive developmental disorders (2nd ed.). New York: Wiley.

    Google Scholar 

  • Devlin, B., & Scherer, S. W. (2012). Genetic architecture in autism spectrum disorder. Current Opinion in Genetics & Development, 22, 229–237.

    Article  CAS  Google Scholar 

  • DiCicco-Bloom, E., Lord, C., Zwaigenbaum, L., et al. (2006). The developmental neurobiology of autism spectrum disorder. Journal of Neuroscience, 26, 6897–6906.

    Article  CAS  PubMed  Google Scholar 

  • Dykens, E. M., Finucane, B. M., & Gayley, C. (1997). Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome. Journal of Autism and Developmental Disorders, 27, 203–211.

    Article  CAS  PubMed  Google Scholar 

  • Filipek, P. A., Accaardo, P. J., Ashwal, M. D., et al. (2000). Practice parameter: Screening and diagnosis of autism. Report of the quality standards subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology, 55, 468–479.

    Article  CAS  PubMed  Google Scholar 

  • Frith, U. (1991). Autistic psychopathy in childhood. Autism and Asperger syndrome (pp. 37–92). Cambridge University Press, Cambridge, England.

    Google Scholar 

  • Frith, U. (2004). Emanuel Miller lecture: Confusions and controversies about Asperger syndrome. Journal of Child Psychology and Psychiatry, 45, 672–686.

    Article  PubMed  Google Scholar 

  • Gillberg, C. (1998). Chromosomal disorders and autism. Journal of Autism and Developmental Disorders, 28, 415–425.

    Article  CAS  PubMed  Google Scholar 

  • Harrington, J. W., & Allen, H. (2014). The clinician’s guide to autism. Pediatrics in Review, 35, 62–78.

    Article  PubMed  Google Scholar 

  • Heil, K. M., & Schaaf, C. P. (2013). The genetics of autism spectrum disorders – A guide for clinicians. Current Psychiatry Reports, 15, 334.

    Article  PubMed  Google Scholar 

  • Hendriksen, J. G., & Vles, J. S. (2008). Neuropsychiatric disorders in males with Duchenne muscular dystrophy: Frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder. Journal of Child Neurology, 23, 477–481.

    Article  PubMed  Google Scholar 

  • Herman, G. E., Butter, E., Enrile, B., et al. (2007). Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. American Journal of Medical Genetics Part A, 143, 589–593.

    Article  Google Scholar 

  • Hess, K., Morrier, M., Heflin, L., et al. (2008). Autism treatment survey: Services received by children with autism spectrum disorders in public school classrooms. Journal of Autism and Developmental Disorders, 38, 961–971.

    Article  PubMed  Google Scholar 

  • Jamain, S., Quach, H., Betancur, C., et al. (2003). Paris Autism Research International Sibpair Study. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics, 34, 27–29.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ji, N. Y., & Findling, R. L. (2015). An update on pharmacotherapy for autism spectrum disorder in children and adolescents. Current Opinion of Psychiatry, 28, 91–101.

    Google Scholar 

  • Karpf, J., Turk, J., & Howlin, P. (2004). Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. Clinical Genetics, 65, 327–332.

    Article  CAS  PubMed  Google Scholar 

  • Kent, L., Evans, J., Paul, M., et al. (1999). Comorbidity of autistic spectrum disorders in children with down syndrome. Developmental Medicine and Child Neurology, 41, 152–158.

    Article  Google Scholar 

  • King, B. H., & Bostic, J. Q. (2006). An update on pharmacologic treatments for autism spectrum disorders. Child and Adolescent Psychiatric Clinics of North America, 15, 161–175.

    Article  PubMed  Google Scholar 

  • Kumar, R. A., Karamohamed, S., Sudi, J., et al. (2008). Recurrent 16p11.2 microdeletions in autism. Human Molecular Genetics, 17, 628–638.

    Article  CAS  PubMed  Google Scholar 

  • Lai, M.-C., Lombardo, M. B., & Baron-Cohen, S. (2014). Autism. Lancet, 383, 896–910.

    Article  PubMed  Google Scholar 

  • Landa, R. J. (2008). Diagnosis of autism spectrum disorders in the first 3 years of life. Nature Clinical Practice Neurology, 4, 138–147.

    Article  PubMed  Google Scholar 

  • Lauritsen, M. B., Pedersen, C. B., & Mortensen, P. B. (2005). Effects of familial risk factors and place of birth on the risk of autism: A nationwide register-based study. Journal of Child Psychology and Psychiatry, 46, 963–971.

    Article  PubMed  Google Scholar 

  • Levy, S. E., Mandell, D. S., & Schultz, R. T. (2009). Autism. Lancet, 374, 1627–1638.

    Article  PubMed  PubMed Central  Google Scholar 

  • Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist. Journal of Medical Genetics, 46, 1–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Malhotra, D., & Sebat, J. (2012). CNVs: Harbingers of a rare variant revolution in psychiatric genetics. Cell, 148, 1223–1241.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Marshall, C. R., Noor, A., Vincent, J. B., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82, 477–488.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Miles, J. H. (2011). Autism spectrum disorders-A genetics review. Genetics in Medicine, 13, 278–294.

    Article  PubMed  Google Scholar 

  • Miles, J. H., Takahashi, T. N., Bagby, S., et al. (2005). Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics Part A, 135, 171–180.

    Article  CAS  PubMed  Google Scholar 

  • Miles, J. H., McCathren, R. B., Stichter, J., et al. (2010). Autism spectrum disorders. GeneReviews. Updated 13 Apr 2010. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1442/

  • Miller, D. T., Shen, Y., Weiss, L. A., et al. (2009). Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. Journal of Medical Genetics, 46, 242–248.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Moessner, R., Marshall, C. R., Sutcliffe, J. S., et al. (2007). Contribution of SHANK3 mutations to autism spectrum disorder. American Journal of Human Genetics, 81, 1289–1297.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113, e472–e486.

    Article  PubMed  Google Scholar 

  • Myers, S. M. (2009). Management of autism spectrum disorders in primary care. Pediatric Annals, 38, 42–49.

    Article  PubMed  Google Scholar 

  • Neale, B. M., Kou, Y., Liu, L., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485, 242–245.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Neufeld, E. F., & Muenzer, J. (2001). The mucopolysaccharidoses. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease (pp. 3421–3452). New York: McGraw-Hill.

    Google Scholar 

  • Noor, A., Whibley, A., Marshall, C. R., et al. (2010). Disruption at the PTCHD1 Locus on Xp22.11 in autism spectrum disorder and intellectual disability. Science Translational Medicine, 2(49), 49ra68.

    Article  PubMed  PubMed Central  Google Scholar 

  • O’Roak, B. J., Vives, L., Girirajan, S., et al. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485, 246–250.

    Article  PubMed  PubMed Central  Google Scholar 

  • Oliveira, G., Diogo, L., Grazina, M., et al. (2005). Mitochondrial dysfunction in autism spectrum disorders: A population-based study. Developmental Medicine and Child Neurology, 47, 185–189.

    Article  CAS  PubMed  Google Scholar 

  • Ospina, M. B., Krebs Seida, J., Clark, B., et al. (2008). Behavioural and developmental interventions for autism spectrum disorder: A clinical systematic review. PloS One, 3, e3755.

    Article  PubMed  PubMed Central  Google Scholar 

  • Pagnamenta, A. T., Wing, K., Akha, E. S., et al. (2009). A 15q13.3 microdeletion segregating with autism. European Journal of Human Genetics, 17, 687–692.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Paul, R. (2008). Interventions to improve communication in autism. Child and Adolescent Psychiatric Clinics of North America, 17, 835–856.

    Article  PubMed  PubMed Central  Google Scholar 

  • Pinto, D., Pagnamenta, A. T., Klei, L., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368–372.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pinto, D., Delaby, E., Merico, D., et al. (2014). Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics, 94, 677–694.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Prater, C. D. (2002). Autism: A medical primer. American Family Physician, 66, 1667–1674.

    PubMed  Google Scholar 

  • Ritvo, E. R., Jorde, L. B., Mason-Brothers, A., et al. (1989). The UCLA-University of Utah epidemiologic survey of autism: Recurrence risk estimates and genetic counseling. American Journal of Psychiatry, 146, 1032.

    Article  CAS  PubMed  Google Scholar 

  • Rogers, S. J., & Vismara, L. A. (2008). Evidence-based comprehensive treatments for early autism. Journal of Clinical Child and Adolescent Psychology, 37, 8–38.

    Article  PubMed  PubMed Central  Google Scholar 

  • Ronemus, M., Iossifov, Il, Levy, D., et al. (2014). The role of de novo mutations in the genetics of autism spectrum disorders. Nature Reviews. Genetics, 15, 133–141.

    Article  CAS  PubMed  Google Scholar 

  • Sanders, S. J., Murtha, M. T., Gupta, A. R., et al. (2012). De novo mutations revealed by whole exome sequencing are strongly associated with autism. Nature, 485, 237–241.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schaefer, G. B., & Mendelsohn, N. J. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15, 399–407.

    Article  CAS  PubMed  Google Scholar 

  • Schlosser, R. W., & Wendt, O. (2008). Effects of augmentative and alternative communication intervention on speech production in children with autism: A systematic review. American Journal of Speech-Language Pathology, 17, 212–230.

    Article  PubMed  Google Scholar 

  • Sebat, J., Lakshmi, B., Malhotra, D., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316, 445–449.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Seida, J. K., Ospina, M. B., Karkhaneh, M., et al. (2009). Systematic reviews of psychosocial interventions for autism: An umbrella review. Developmental Medicine and Child Neurology, 51, 95–104.

    Article  PubMed  Google Scholar 

  • Selkirk, C. G., McCarthy Veach, P., Lian, F., et al. (2009). Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. Journal of Genetic Counseling, 18, 507–519.

    Article  PubMed  Google Scholar 

  • Sikora, D. M., Pettit-Kekel, K., Penfield, J., et al. (2006). The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics Part A, 140, 1511–1518.

    Article  PubMed  Google Scholar 

  • Spiegel, E. K., Colman, R. F., & Patterson, D. (2006). Adenylosuccinate lyase deficiency. Molecular Genetics and Metabolism, 89, 19–31.

    Article  CAS  PubMed  Google Scholar 

  • Splawski, I., Timothy, K. W., Sharpe, L. M., et al. (2004). Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 119, 19–31.

    Article  CAS  PubMed  Google Scholar 

  • Steiner, C. E., Guerreiro, M. M., & Marques-de-Faria, A. P. (2003). Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Arquivos de Neuro-Psiquiatria, 61, 176–180.

    Article  PubMed  Google Scholar 

  • Wassink, T. H., Piven, J., & Patil, S. R. (2001). Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatric Genetics, 11, 57–63.

    Article  CAS  PubMed  Google Scholar 

  • Weiss, L. A., Shen, Y., Korn, J. M., et al. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. The New England Journal of Medicine, 358, 667–675.

    Article  CAS  PubMed  Google Scholar 

  • Yu, T. W., Chahrour, M. H., Coulter, M. E., et al. (2013). Using whole-exome sequencing to identify inherited causes of autism. Neuron, 77, 259–273.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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  1. Medical Genetics, Shriners Hospitals for Children, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2015). Autism. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_20-2

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