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| '''For patient information click [[Autism (patient information)|here]]''' | | __NOTOC__ |
| | | '''For patient information, click [[Autism (patient information)|here]]''' |
| {{Infobox_Disease | | {{Infobox_Disease |
| | Name = Autism | | | Name = Autism |
| | Image = Autism-stacking-cans 2nd edit.jpg | | | Image = Autism-stacking-cans 2nd edit.jpg |
| | Caption = Repetitively stacking or lining up objects may indicate autism.<ref name=Johnson/> | | | Caption = Repetitively stacking or lining up objects may indicate autism. |
| | DiseasesDB = 1142
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| | ICD10 = {{ICD10|F|84|0|f|80}}
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| | ICD9 = {{ICD9|299.0}}
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| | ICDO =
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| | OMIM = 209850
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| | MedlinePlus = 001526
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| | MeshID = D001321
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| }} | | }} |
| {{Autism}} | | {{Autism}} |
| {{CMG}} | | {{CMG}} {{AE}} {{ADG}} ; {{HK}} ; {{IQ}} ; {{Akshun}} ; {{CK}} {{SSH}} |
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| Diagnosis is based on behavior, not cause or mechanism.<ref name=London>{{cite journal |journal=Brain Pathol |year=2007 |volume=17 |issue=4 |pages=408–11 |title= The role of the neurobiologist in redefining the diagnosis of autism |author= London E |doi=10.1111/j.1750-3639.2007.00103.x |pmid=17919126}}</ref><ref>{{cite journal |journal=BMJ |date=2003 |volume=327 |issue=7413 |pages=488–93 |title= Diagnosis of autism |author= Baird G, Cass H, Slonims V |doi=10.1136/bmj.327.7413.488 |pmid=12946972 |url=http://www.bmj.com/cgi/content/full/327/7413/488}}</ref> Autism is defined in the [[DSM-IV-TR]] as exhibiting at least six symptoms total, including at least two symptoms of qualitative impairment in social interaction, at least one symptom of qualitative impairment in communication, and at least one symptom of restricted and repetitive behavior. Sample symptoms include lack of social or emotional reciprocity, stereotyped and repetitive use of language or idiosyncratic language, and persistent preoccupation with parts of objects. Onset must be prior to age three years, with delays or abnormal functioning in either social interaction, language as used in social communication, or symbolic or imaginative play. The disturbance must not be better accounted for by [[Rett syndrome]] or [[childhood disintegrative disorder]].<ref>{{cite book |title= Diagnostic and Statistical Manual of Mental Disorders |edition=4th ed., text revision ([[DSM-IV-TR]]) |author= [[American Psychiatric Association]] |date=2000 |isbn=0890420254 |chapter= Diagnostic criteria for 299.00 Autistic Disorder |chapterurl=http://behavenet.com/capsules/disorders/autistic.htm |accessdate=2007-06-25}}</ref> [[ICD-10]] uses essentially the same definition.<ref name=ICD-10-F84.0>{{cite book |chapterurl=http://who.int/classifications/apps/icd/icd10online/?gf80.htm+f840 |date=2006 |accessdate=2007-06-25 |title= International Statistical Classification of Diseases and Related Health Problems |edition= 10th ed. ([[ICD-10]]) |author= [[World Health Organization]] |chapter= F84. Pervasive developmental disorders}}</ref>
| | {{SK}} Autistic spectrum disorder |
| | ==[[Autism overview|Overview]]== |
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| Several diagnostic instruments are available. Two are commonly used in autism research: the [[Autism Diagnostic Interview-Revised]] (ADI-R) is a semistructured parent interview, and the [[Autism Diagnostic Observation Schedule]] (ADOS) uses observation and interaction with the child. The [[Childhood Autism Rating Scale]] (CARS) is used widely in clinical environments to assess severity of autism based on observation of children.<ref name=Volkmar/>
| | ==[[Autism historical perspective|Historical Perspective]]== |
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| A [[pediatrician]] commonly performs a preliminary investigation by taking developmental history and physically examining the child. If warranted, diagnosis and evaluations are conducted with help from ASD specialists, observing and assessing cognitive, communication, family, and other factors using standardized tools, and taking into account any associated medical conditions. A [[differential diagnosis]] for ASD at this stage might also consider [[mental retardation]], [[hearing impairment]], and a [[specific language impairment]]<ref name=Dover/> such as [[Landau-Kleffner syndrome]].<ref>{{cite journal |journal= Dev Med Child Neurol |year=2000 |volume=42 |issue=5 |pages=349–53 |title= Autistic regression and Landau-Kleffner syndrome: progress or confusion? |author= Mantovani JF |doi=10.1111/j.1469-8749.2000.tb00104.x |pmid=10855658}}</ref> ASD can sometimes be diagnosed by age 14 months, although diagnosis becomes increasingly stable over the first three years of life: for example, a one-year-old who meets diagnostic criteria for ASD is less likely than a three-year-old to continue to do so a few years later.<ref name=Landa3>{{cite journal |journal= Nat Clin Pract Neurol |date=2008 |volume=4 |issue=3 |pages=138–47 |title= Diagnosis of autism spectrum disorders in the first 3 years of life |author= Landa RJ |doi=10.1038/ncpneuro0731 |pmid=18253102}}</ref> In the UK the National Autism Plan for Children recommends at most 30 weeks from first concern to completed diagnosis and assessment, though few cases are handled that quickly in practice.<ref name=Dover>{{cite journal |journal= Arch Dis Child |date=2007 |volume=92 |issue=6 |pages=540–5 |title= How to diagnose autism |author= Dover CJ, Le Couteur A |doi=10.1136/adc.2005.086280 |pmid=17515625}}</ref> A 2006 U.S. study found the average age of first evaluation by a qualified professional was 48 months and of formal ASD diagnosis was 61 months, reflecting an average 13-month delay, all far above recommendations.<ref>{{cite journal |journal= J Dev Behav Pediatr |date=2006 |volume=27 |issue=2 Suppl |pages=S79–87 |title= Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample |author= Wiggins LD, Baio J, Rice C |pmid=16685189}}</ref>
| | ==[[Autism classification|Classification]]== |
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| [[Clinical genetics]] evaluations are often done once ASD is diagnosed, particularly when other symptoms already suggest a genetic cause.<ref name=Caronna/> Although genetic technology allows clinical geneticists to link an estimated 40% of cases to genetic causes,<ref>{{cite journal |journal= Genet Med |date=2008 |volume=10 |issue=1 |pages=4–12 |title= Genetics evaluation for the etiologic diagnosis of autism spectrum disorders |author= Schaefer GB, Mendelsohn NJ |doi=10.1097/GIM.0b013e31815efdd7 |pmid=18197051 |laysummary=http://www.medicalnewstoday.com/articles/96448.php |laysource= Medical News Today |laydate=2008-02-07}}</ref> consensus guidelines in the U.S. and UK are limited to high-resolution chromosome and [[fragile X]] testing.<ref name=Caronna/> As new genetic tests are developed several ethical, legal, and social issues will emerge. Commercial availability of tests may precede adequate understanding of how to use test results, given the complexity of autism's genetics.<ref name=McMahon>{{cite journal |journal= Am J Med Genet C Semin Med Genet |date=2006 |volume=142C |issue=1 |pages=52–7 |title= Genetic counseling and ethical issues for autism |author= McMahon WM, Baty BJ, Botkin J |doi=10.1002/ajmg.c.30082 |pmid=16419100}}</ref> [[Metabolic]] and [[neuroimaging]] tests are sometimes helpful, but are not routine.<ref name=Caronna/>
| | ==[[Autism pathophysiology|Pathophysiology]]== |
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| Underdiagnosis and overdiagnosis are problems in marginal cases, and much of the recent increase in the number of reported ASD cases is likely due to changes in diagnostic practices. The increasing popularity of drug treatment options and the expansion of benefits has given providers incentives to diagnose ASD, resulting in some overdiagnosis of children with uncertain symptoms. Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis.<ref>{{cite journal|author=Shattuck PT, Grosse SD|title=Issues related to the diagnosis and treatment of autism spectrum disorders|journal=Ment Retard Dev Disabil Res Rev|date=2007|volume=13|issue=2|pages=129–35|doi=10.1002/mrdd.20143|pmid=17563895}}</ref> It is particularly hard to diagnose autism among the [[visually impaired]], partly because some of its diagnostic criteria depend on vision, and partly because autistic symptoms overlap with those of common blindness syndromes.<ref>{{cite journal|title=Visual impairment and autism: current questions and future research|author=Cass H|journal=Autism|date=1998|volume=2|issue=2|pages=117–38|doi=10.1177/1362361398022002}}</ref>
| | ==[[Autism causes|Causes]]== |
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| The symptoms of autism and ASD begin early in childhood but are occasionally missed. Adults may seek retrospective diagnoses to help them or their friends and family understand themselves, to help their employers make adjustments, or in some locations to claim disability living allowances or other benefits.<ref>{{cite web |publisher= National Autistic Society |title= Diagnosis: how can it benefit me as an adult? |date=2005 |url=http://www.nas.org.uk/nas/jsp/polopoly.jsp?a=8018 |accessdate=2008-03-24}}</ref>
| | ==[[Autism differential diagnosis|Differentiating Autism from other Disorders]]== |
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| ==Management== | | ==[[Autism epidemiology and demographics|Epidemiology and Demographics]]== |
| {{main|Autism therapies}}
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| The main goals of treatment are to lessen associated deficits and family distress, and to increase quality of life and functional independence. No single treatment is best and treatment is typically tailored to the child's needs. Intensive, sustained special education programs and behavior therapy early in life can help children acquire self-care, social, and job skills,<ref name=CCD>{{cite journal |journal=Pediatrics |date=2007 |volume=120 |issue=5 |pages=1162–82 |title= Management of children with autism spectrum disorders |author= Myers SM, Johnson CP, Council on Children with Disabilities |doi=10.1542/peds.2007-2362 |pmid=17967921 |url=http://pediatrics.aappublications.org/cgi/content/full/120/5/1162 |laysummary=http://aap.org/advocacy/releases/oct07autism.htm |laysource=AAP |laydate=2007-10-29}}</ref> and often improve functioning and decrease symptom severity and maladaptive behaviors;<ref name=Rogers>{{cite journal |journal=J Clin Child Adolesc Psychol |date=2008 |volume=37 |issue=1 |pages=8–38 |title= Evidence-based comprehensive treatments for early autism |author= Rogers SJ, Vismara LA |doi=10.1080/15374410701817808 |pmid=18444052}}</ref> claims that intervention by age two to three years is crucial<ref>{{cite journal |journal= Harv Mag |date=2008 |volume=110 |issue=3 |pages= 27–31, 89–91 |title= A spectrum of disorders |author= Pettus A |url=http://harvardmagazine.com/2008/01/a-spectrum-of-disorders.html}}</ref> are not substantiated.<ref name=Howlin06/> Available approaches include [[applied behavior analysis]] (ABA), developmental models, [[TEACCH|structured teaching]], [[speech and language therapy]], [[social skills]] therapy, and [[occupational therapy]].<ref name=CCD/> Educational interventions have some effectiveness in children: intensive ABA treatment has demonstrated effectiveness in enhancing global functioning in preschool children<ref>{{cite journal |journal= Res Dev Disabil |date=2008 |title= Outcome of comprehensive psycho-educational interventions for young children with autism |author= Eikeseth S |doi=10.1016/j.ridd.2008.02.003 |pmid=18385012}}</ref> and is well-established for improving intellectual performance of young children.<ref name=Rogers/> The limited research on the effectiveness of adult residential programs shows mixed results.<ref>{{cite journal |journal= J Autism Dev Disord |date=2003 |volume=33 |issue=2 |pages=131–40 |title= Effects of a model treatment approach on adults with autism |author= Van Bourgondien ME, Reichle NC, [[Eric Schopler|Schopler E]] |doi=10.1023/A:1022931224934 |pmid=12757352}}</ref>
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| Many medications are used to treat problems associated with ASD.<ref>{{cite journal |journal= Harv Rev Psychiatry |date=2008 |volume=16 |issue=2 |pages=97–112 |title= Pharmacological treatment options for autism spectrum disorders in children and adolescents |author= Leskovec TJ, Rowles BM, Findling RL |doi=10.1080/10673220802075852 |pmid=18415882}}</ref> More than half of U.S. children diagnosed with ASD are prescribed [[psychoactive drug]]s or [[anticonvulsant]]s, with the most common drug classes being [[antidepressant]]s, [[stimulant]]s, and [[antipsychotic]]s.<ref>{{cite journal |journal= J Child Adolesc Psychopharmacol |date=2007 |volume=17 |issue=3 |pages=348–55 |title= Medication use among children with autism spectrum disorders |author= Oswald DP, Sonenklar NA |doi=10.1089/cap.2006.17303 |pmid=17630868}}</ref> Aside from antipsychotics,<ref>{{cite journal |journal= J Clin Invest |date=2008 |volume=118 |issue=1 |pages=6–14 |title= Antipsychotics in the treatment of autism |author= Posey DJ, Stigler KA, Erickson CA, McDougle CJ |doi=10.1172/JCI32483 |pmid=18172517 |url=http://jci.org/cgi/content/full/118/1/6}}</ref> there is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD.<ref>Lack of research on drug treatments:
| | ==[[Autism risk factors|Risk Factors]]== |
| *{{cite journal |journal= Aust Fam Physician |year=2007 |volume=36 |issue=9 |pages=741–4 |title= Children and autism—part 1—recognition and pharmacological management |author= Angley M, Young R, Ellis D, Chan W, McKinnon R |pmid=17915375 |url=http://www.racgp.org.au/Content/NavigationMenu/Publications/AustralianFamilyPhys/2007issues/afp200709/200709angley.pdf |format=PDF}}
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| *{{cite journal |journal=Autism |date=2007 |volume=11 |issue=4 |pages=335–48 |title= Systematic review of the effectiveness of pharmacological treatments for adolescents and adults with autism spectrum disorder |author= Broadstock M, Doughty C, Eggleston M |doi=10.1177/1362361307078132 |pmid=17656398}}</ref> A person with ASD may respond atypically to medications, the medications can have [[Adverse effect (medicine)|adverse effects]], and no known medication relieves autism's core symptoms of social and communication impairments.<ref name=Strock>{{cite paper |author=Strock M |date=2008 |title= Autism spectrum disorders (pervasive developmental disorders) |publisher= National Institute of Mental Health |url=http://nimh.nih.gov/health/publications/autism/complete-publication.shtml |accessdate=2008-03-24}}</ref><ref>{{cite journal |journal= Novartis Found Symp |date=2003 |volume=251 |pages= 235–44; discussion 245–9, 281–97 |title= Why have drug treatments been so disappointing? |author= Buitelaar JK |doi=10.1002/0470869380.ch14 |pmid=14521196}}</ref>
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| Although many [[Alternative therapies for developmental and learning disabilities|alternative therapies and interventions]] are available, few are supported by scientific studies.<ref name=Sigman/><ref>Lack of support for interventions:
| | ==[[Autism screening|Screening]]== |
| *{{cite journal |journal= Dev Med Child Neurol |date=2005 |volume=47 |issue=7 |pages=493–9 |title= Autism interventions: a critical update |author= Francis K |doi=10.1017/S0012162205000952 |pmid=15991872 |url=http://journals.cambridge.org/production/action/cjoGetFulltext?fulltextid=313204 |format=PDF}}
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| *{{cite journal |journal= J Autism Dev Disord |date=2008 |volume=38 |issue=2 |pages=353–61 |title= Social skills interventions for children with Asperger's syndrome or high-functioning autism: a review and recommendations |author= Rao PA, Beidel DC, Murray MJ |doi=10.1007/s10803-007-0402-4 |pmid=17641962}}
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| *{{cite journal |journal= Pediatr Ann |year=2007 |volume=36 |issue=8 |pages=497–8, 500–2, 504–5 |title= Scientifically unsupported therapies in the treatment of young children with autism spectrum disorders |author= Schechtman MA |pmid=17849608 |url=http://www.pediatricannalsonline.com/showPdf.asp?rID=23083 |format=PDF}}
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| </ref><ref name=Aman/> Treatment approaches have little empirical support in [[quality of life|quality-of-life]] contexts, and many programs focus on success measures that lack predictive validity and real-world relevance.<ref name=Burgess/> Scientific evidence appears to matter less to service providers than program marketing, training availability, and parent requests.<ref>{{cite journal |journal= Focus Autism Other Dev Disabl |date=2005 |volume=20 |issue=2 |pages=66–79 |title= Early intervention practices for children with autism: descriptions from community providers |author= Stahmer AC, Collings NM, Palinkas LA |pmid=16467905 |pmc=1350798}}</ref> Although most alternative treatments, such as [[melatonin]], have only mild adverse effects,<ref>{{cite journal |journal= Aust Fam Physician |year=2007 |volume=36 |issue=10 |pages=827–30 |title= Children and autism—part 2—management with complementary medicines and dietary interventions |author= Angley M, Semple S, Hewton C, Paterson F, McKinnon R |pmid=17925903 |url=http://www.racgp.org.au/Content/NavigationMenu/Publications/AustralianFamilyPhys/2007issues/afp200710/200710angley.pdf |format=PDF}}</ref> a 2008 study found that autistic boys on [[Casein#Casein-free_diet|casein-free diets]] have significantly thinner bones,<ref>{{cite journal |journal= J Autism Dev Disord |date=2008 |volume=38 |issue=5 |pages=848–56 |title= Reduced bone cortical thickness in boys with autism or autism spectrum disorder |author= Hediger ML, England LJ, Molloy CA, Yu KF, Manning-Courtney P, Mills JL |doi=10.1007/s10803-007-0453-6 |pmid=17879151 |laysummary=http://www.nih.gov/news/health/jan2008/nichd-29.htm |laysource= NIH News |laydate=2008-01-29}}</ref> and botched [[chelation therapy]] killed a five-year-old autistic boy in 2005.<ref>{{cite journal |journal=Pediatrics |date=2006 |volume=118 |issue=2 |pages=e534-6 |title= Deaths resulting from hypocalcemia after administration of edetate disodium: 2003–2005 |author= Brown MJ, Willis T, Omalu B, Leiker R |doi=10.1542/peds.2006-0858 |pmid=16882789 |url=http://pediatrics.aappublications.org/cgi/content/full/118/2/e534}}</ref>
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| Treatment is expensive; indirect costs are more so. A U.S. study estimated an average cost of $3.2 million in 2003 U.S. dollars for someone born in 2000, with about 10% medical care, 30% extra education and other care, and 60% lost economic productivity.<ref>{{cite journal |journal= Arch Pediatr Adolesc Med |date=2007 |volume=161 |issue=4 |pages=343–9 |title= The lifetime distribution of the incremental societal costs of autism |author= Ganz ML |pmid=17404130 |url=http://archpedi.ama-assn.org/cgi/content/full/161/4/343 |laysummary=http://www.hsph.harvard.edu/news/press-releases/2006-releases/press04252006.html |laysource= Harvard School of Public Health |laydate=2006-04-25}}</ref> Publicly supported programs are often inadequate or inappropriate for a given child, and unreimbursed out-of-pocket medical or therapy expenses are associated with likelihood of family financial problems;<ref>{{cite journal |journal= J Fam Econ Iss |date=2007 |volume=28 |issue=2 |pages=247–64 |doi=10.1007/s10834-007-9059-6 |title= Financial issues associated with having a child with autism |author= Sharpe DL, Baker DL}}</ref> a 2008 U.S. study found a 14% average loss of annual income in families of children with ASD.<ref>{{cite journal |journal=Pediatrics |date=2008 |volume=121 |issue=4 |pages=e821–6 |title= Association of childhood autism spectrum disorders and loss of family income |author= Montes G, Halterman JS |doi=10.1542/peds.2007-1594 |pmid=18381511 |url=http://pediatrics.aappublications.org/cgi/content/full/121/4/e821}}</ref> After childhood, key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning.<ref name=Aman>{{cite journal |journal= J Clin Psychiatry |date=2005 |volume=66 |issue= Suppl 10 |pages=38–45 |title= Treatment planning for patients with autism spectrum disorders |author= Aman MG |pmid=16401149}}</ref>
| | ==[[Autism natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| ==References== | | ==Diagnosis== |
| {{reflist|2}}
| | [[Autism diagnostic criteria|Diagnostic Criteria]] | [[Autism history and symptoms|History and Symptoms]] | [[Autism physical examination|Physical Examination]] | [[Autism laboratory findings|Laboratory Findings]] | [[Autism CT|CT]] | [[Autism MRI|MRI]] | [[Autism other imaging findings|Other Imaging Findings]] | [[Autism other diagnostic studies|Other Diagnostic Studies]] |
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| | ==Treatment== |
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| | [[Autism medical therapy|Medical Therapy]] | [[Autism behavioral therapy|Behavioral Therapy]] | [[Autism cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Autism future or investigational therapies|Future or Investigational Therapies]] |
| | ==Case Studies== |
| | [[Autism case study one|Case #1]] |
| | ==Related Chapters== |
| | * [[Pervasive developmental disorder|Pervasive Developmental Disorder]] |
| | * [[Asperger syndrome|Asperger Syndrome]] |
| | * [[Rett syndrome|Rett Syndrome]] |
| | * [[Childhood disintegrative disorder|Childhood Disintegrative Disorder]] |
| | * [[PDD not otherwise specified|PDD Not Otherwise Specified (PDD-NOS)]] |
| | * [[High-functioning autism|High Functioning Autism]] |
| | * [[Regressive autism|Regressive Autism]] |
| | * [[Autism Diagnostic Interview-Revised]] |
| | * [[Autism Diagnostic Observation Schedule]] |
| | * [[Childhood Autism Rating Scale]] |
| | * [[Refrigerator mother|Refrigerator Mother]] |
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| {{Pervasive developmental disorders}} | | {{Pervasive developmental disorders}} |
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| {{WikiDoc Sources}} | | {{WikiDoc Sources}} |
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| [[Category:Overview complete]] | | [[Category:Mature chapter]] |
| [[Category:Disease]] | | [[Category:Disease]] |
| | [[Category:Psychiatry]] |
| [[Category:Pediatrics]] | | [[Category:Pediatrics]] |
| [[Category:Psychiatry]] | | [[Category:Neurology]] |
| [[Category:Communication disorders]] | | [[Category:Communication disorders]] |
| [[Category:Neurological disorders]] | | [[Category:Neurological disorders]] |
| | [[Category:Autism]] |
