Autism
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| Autism | |
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| Repetitively stacking or lining up objects may indicate autism.[1] | |
| ICD-10 | F84.0 |
| ICD-9 | 299.0 |
| OMIM | 209850 |
| DiseasesDB | 1142 |
| MedlinePlus | 001526 |
| MeSH | D001321 |
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Autism Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Autism On the Web |
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American Roentgen Ray Society Images of Autism |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Diagnosis is based on behavior, not cause or mechanism.[2][3] 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.[4] ICD-10 uses essentially the same definition.[5]
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.[6]
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[7] such as Landau-Kleffner syndrome.[8] 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.[9] 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.[7] 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.[10]
Clinical genetics evaluations are often done once ASD is diagnosed, particularly when other symptoms already suggest a genetic cause.[11] Although genetic technology allows clinical geneticists to link an estimated 40% of cases to genetic causes,[12] consensus guidelines in the U.S. and UK are limited to high-resolution chromosome and fragile X testing.[11] 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.[13] Metabolic and neuroimaging tests are sometimes helpful, but are not routine.[11]
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.[14] 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.[15]
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.[16]
Management
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,[17] and often improve functioning and decrease symptom severity and maladaptive behaviors;[18] claims that intervention by age two to three years is crucial[19] are not substantiated.[20] Available approaches include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy.[17] Educational interventions have some effectiveness in children: intensive ABA treatment has demonstrated effectiveness in enhancing global functioning in preschool children[21] and is well-established for improving intellectual performance of young children.[18] The limited research on the effectiveness of adult residential programs shows mixed results.[22]
Many medications are used to treat problems associated with ASD.[23] More than half of U.S. children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics.[24] Aside from antipsychotics,[25] there is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD.[26] A person with ASD may respond atypically to medications, the medications can have adverse effects, and no known medication relieves autism's core symptoms of social and communication impairments.[27][28]
Although many alternative therapies and interventions are available, few are supported by scientific studies.[29][30][31] Treatment approaches have little empirical support in quality-of-life contexts, and many programs focus on success measures that lack predictive validity and real-world relevance.[32] Scientific evidence appears to matter less to service providers than program marketing, training availability, and parent requests.[33] Although most alternative treatments, such as melatonin, have only mild adverse effects,[34] a 2008 study found that autistic boys on casein-free diets have significantly thinner bones,[35] and botched chelation therapy killed a five-year-old autistic boy in 2005.[36]
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.[37] 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;[38] a 2008 U.S. study found a 14% average loss of annual income in families of children with ASD.[39] After childhood, key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning.[31]
References
- ↑
- ↑ London E (2007). "The role of the neurobiologist in redefining the diagnosis of autism". Brain Pathol. 17 (4): 408–11. doi:10.1111/j.1750-3639.2007.00103.x. PMID 17919126.
- ↑ Baird G, Cass H, Slonims V (2003). "Diagnosis of autism". BMJ. 327 (7413): 488–93. doi:10.1136/bmj.327.7413.488. PMID 12946972.
- ↑ American Psychiatric Association (2000). "Diagnostic criteria for 299.00 Autistic Disorder". Diagnostic and Statistical Manual of Mental Disorders (4th ed., text revision (DSM-IV-TR) ed.). ISBN 0890420254. Retrieved 2007-06-25.
- ↑ World Health Organization (2006). "F84. Pervasive developmental disorders". International Statistical Classification of Diseases and Related Health Problems (10th ed. (ICD-10) ed.). Retrieved 2007-06-25.
- ↑
- ↑ 7.0 7.1 Dover CJ, Le Couteur A (2007). "How to diagnose autism". Arch Dis Child. 92 (6): 540–5. doi:10.1136/adc.2005.086280. PMID 17515625.
- ↑ Mantovani JF (2000). "Autistic regression and Landau-Kleffner syndrome: progress or confusion?". Dev Med Child Neurol. 42 (5): 349–53. doi:10.1111/j.1469-8749.2000.tb00104.x. PMID 10855658.
- ↑ Landa RJ (2008). "Diagnosis of autism spectrum disorders in the first 3 years of life". Nat Clin Pract Neurol. 4 (3): 138–47. doi:10.1038/ncpneuro0731. PMID 18253102.
- ↑ Wiggins LD, Baio J, Rice C (2006). "Examination of the time between first evaluation and first autism spectrum diagnosis in a population-based sample". J Dev Behav Pediatr. 27 (2 Suppl): S79–87. PMID 16685189.
- ↑ 11.0 11.1 11.2
- ↑ Schaefer GB, Mendelsohn NJ (2008). "Genetics evaluation for the etiologic diagnosis of autism spectrum disorders". Genet Med. 10 (1): 4–12. doi:10.1097/GIM.0b013e31815efdd7. PMID 18197051. Lay summary – Medical News Today (2008-02-07).
- ↑ McMahon WM, Baty BJ, Botkin J (2006). "Genetic counseling and ethical issues for autism". Am J Med Genet C Semin Med Genet. 142C (1): 52–7. doi:10.1002/ajmg.c.30082. PMID 16419100.
- ↑ Shattuck PT, Grosse SD (2007). "Issues related to the diagnosis and treatment of autism spectrum disorders". Ment Retard Dev Disabil Res Rev. 13 (2): 129–35. doi:10.1002/mrdd.20143. PMID 17563895.
- ↑ Cass H (1998). "Visual impairment and autism: current questions and future research". Autism. 2 (2): 117–38. doi:10.1177/1362361398022002.
- ↑ "Diagnosis: how can it benefit me as an adult?". National Autistic Society. 2005. Retrieved 2008-03-24.
- ↑ 17.0 17.1 Myers SM, Johnson CP, Council on Children with Disabilities (2007). "Management of children with autism spectrum disorders". Pediatrics. 120 (5): 1162–82. doi:10.1542/peds.2007-2362. PMID 17967921. Lay summary – AAP (2007-10-29).
- ↑ 18.0 18.1 Rogers SJ, Vismara LA (2008). "Evidence-based comprehensive treatments for early autism". J Clin Child Adolesc Psychol. 37 (1): 8–38. doi:10.1080/15374410701817808. PMID 18444052.
- ↑ Pettus A (2008). "A spectrum of disorders". Harv Mag. 110 (3): 27–31, 89–91.
- ↑
- ↑ Eikeseth S (2008). "Outcome of comprehensive psycho-educational interventions for young children with autism". Res Dev Disabil. doi:10.1016/j.ridd.2008.02.003. PMID 18385012.
- ↑ Van Bourgondien ME, Reichle NC, Schopler E (2003). "Effects of a model treatment approach on adults with autism". J Autism Dev Disord. 33 (2): 131–40. doi:10.1023/A:1022931224934. PMID 12757352.
- ↑ Leskovec TJ, Rowles BM, Findling RL (2008). "Pharmacological treatment options for autism spectrum disorders in children and adolescents". Harv Rev Psychiatry. 16 (2): 97–112. doi:10.1080/10673220802075852. PMID 18415882.
- ↑ Oswald DP, Sonenklar NA (2007). "Medication use among children with autism spectrum disorders". J Child Adolesc Psychopharmacol. 17 (3): 348–55. doi:10.1089/cap.2006.17303. PMID 17630868.
- ↑ Posey DJ, Stigler KA, Erickson CA, McDougle CJ (2008). "Antipsychotics in the treatment of autism". J Clin Invest. 118 (1): 6–14. doi:10.1172/JCI32483. PMID 18172517.
- ↑ Lack of research on drug treatments:
- Angley M, Young R, Ellis D, Chan W, McKinnon R (2007). "Children and autism—part 1—recognition and pharmacological management" (PDF). Aust Fam Physician. 36 (9): 741–4. PMID 17915375.
- Broadstock M, Doughty C, Eggleston M (2007). "Systematic review of the effectiveness of pharmacological treatments for adolescents and adults with autism spectrum disorder". Autism. 11 (4): 335–48. doi:10.1177/1362361307078132. PMID 17656398.
- ↑ Template:Cite paper
- ↑ Buitelaar JK (2003). "Why have drug treatments been so disappointing?". Novartis Found Symp. 251: 235–44, discussion 245–9, 281–97. doi:10.1002/0470869380.ch14. PMID 14521196.
- ↑
- ↑ Lack of support for interventions:
- Francis K (2005). "Autism interventions: a critical update" (PDF). Dev Med Child Neurol. 47 (7): 493–9. doi:10.1017/S0012162205000952. PMID 15991872.
- Rao PA, Beidel DC, Murray MJ (2008). "Social skills interventions for children with Asperger's syndrome or high-functioning autism: a review and recommendations". J Autism Dev Disord. 38 (2): 353–61. doi:10.1007/s10803-007-0402-4. PMID 17641962.
- Schechtman MA (2007). "Scientifically unsupported therapies in the treatment of young children with autism spectrum disorders" (PDF). Pediatr Ann. 36 (8): 497–8, 500–2, 504–5. PMID 17849608.
- ↑ 31.0 31.1 Aman MG (2005). "Treatment planning for patients with autism spectrum disorders". J Clin Psychiatry. 66 (Suppl 10): 38–45. PMID 16401149.
- ↑
- ↑ Stahmer AC, Collings NM, Palinkas LA (2005). "Early intervention practices for children with autism: descriptions from community providers". Focus Autism Other Dev Disabl. 20 (2): 66–79. PMC 1350798. PMID 16467905.
- ↑ Angley M, Semple S, Hewton C, Paterson F, McKinnon R (2007). "Children and autism—part 2—management with complementary medicines and dietary interventions" (PDF). Aust Fam Physician. 36 (10): 827–30. PMID 17925903.
- ↑ Hediger ML, England LJ, Molloy CA, Yu KF, Manning-Courtney P, Mills JL (2008). "Reduced bone cortical thickness in boys with autism or autism spectrum disorder". J Autism Dev Disord. 38 (5): 848–56. doi:10.1007/s10803-007-0453-6. PMID 17879151. Lay summary – NIH News (2008-01-29).
- ↑ Brown MJ, Willis T, Omalu B, Leiker R (2006). "Deaths resulting from hypocalcemia after administration of edetate disodium: 2003–2005". Pediatrics. 118 (2): e534–6. doi:10.1542/peds.2006-0858. PMID 16882789.
- ↑ Ganz ML (2007). "The lifetime distribution of the incremental societal costs of autism". Arch Pediatr Adolesc Med. 161 (4): 343–9. PMID 17404130. Lay summary – Harvard School of Public Health (2006-04-25).
- ↑ Sharpe DL, Baker DL (2007). "Financial issues associated with having a child with autism". J Fam Econ Iss. 28 (2): 247–64. doi:10.1007/s10834-007-9059-6.
- ↑ Montes G, Halterman JS (2008). "Association of childhood autism spectrum disorders and loss of family income". Pediatrics. 121 (4): e821–6. doi:10.1542/peds.2007-1594. PMID 18381511.
Template:Pervasive developmental disorders
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