Autism

Un article de Vev.

Modèle:Infobox Disease Autism is a brain development disorder that impairs social interaction and communication, and causes restricted and repetitive behavior, all starting before a child is three years old. This set of signs distinguishes autism from milder autism spectrum disorders (ASD) such as Asperger syndrome.

Autism is largely inherited, although the genetics of autism are complex and it is generally unclear which genes are responsible.<ref name=Freitag/> In rare cases, autism is strongly associated with agents that cause birth defects.<ref name=Arndt/> Other proposed causes, such as childhood vaccines, are controversial and the vaccine hypotheses lack convincing scientific evidence.<ref name=Rutter/> Most recent reviews estimate a prevalence of one to two cases per 1,000 people for autism, and about six per 1,000 for ASD, with ASD averaging a 4.3:1 male-to-female ratio. The number of people known to have autism has increased dramatically since the 1980s, at least partly due to changes in diagnostic practice; the question of whether actual prevalence has increased is unresolved.<ref name=Newschaffer/>

Autism affects many parts of the brain; how this occurs is poorly understood. Parents usually notice signs in the first year or two of their child's life. Early intervention may help children gain self-care and social skills, although few of these interventions are supported by scientific studies. There is no cure.<ref name=Francis/> With severe autism, independent living is unlikely; with milder autism, there are some success stories for adults,<ref name=Howlin/> and an autistic culture has developed, with some seeking a cure and others believing that autism is a condition rather than a disorder.<ref name=Rajendran/>

Classification

Autism is a developmental disorder of the human brain that first gives signs during infancy or childhood and follows a steady course without remission or relapse.<ref name=ICD-10-F84.0/> Impairments result from maturation-related changes in various systems of the brain.<ref name=Penn/> Autism is one of the five pervasive developmental disorders (PDD), which are characterized by widespread abnormalities of social interactions and communication, and severely restricted interests and highly repetitive behavior.<ref name=ICD-10-F84.0/>

Of the other four PDD forms, Asperger syndrome is closest to autism in signs and likely causes; Rett syndrome and childhood disintegrative disorder share several signs with autism, but may have unrelated causes; PDD not otherwise specified (PDD-NOS) is diagnosed when the criteria are not met for a more specific disorder.<ref>Modèle:Cite journal</ref> Unlike autism, Asperger's has no substantial delay in language development.<ref>Modèle:Cite book</ref> The terminology of autism can be bewildering, with autism, Asperger's and PDD-NOS often called the autism spectrum disorders (ASD)<ref name=CCD/> or sometimes the autistic disorders,<ref name=Freitag>Modèle:Cite journal</ref> whereas autism itself is often called autistic disorder, childhood autism, or infantile autism. In this article, autism refers to the classic autistic disorder, while other sources sometimes use autism or the autisms to refer to ASD,<ref>Modèle:Cite journal</ref> or equate ASD with PDD.<ref name=Strock/> ASD, in turn, is a subset of the broader autism phenotype (BAP), which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact.<ref>Modèle:Cite journal</ref>

The manifestations of autism cover a wide spectrum, ranging from individuals with severe impairments—who may be silent, mentally disabled, and locked into hand flapping and rocking—to less impaired individuals who may have active but distinctly odd social approaches, narrowly focused interests, and verbose, pedantic communication.<ref>Modèle:Cite journal</ref> Sometimes the syndrome is divided into low-, medium- and high-functioning autism (LFA, MFA, and HFA), based on IQ thresholds,<ref name=hypersystem/> or on how much support the individual requires in daily life; these subdivisions are not standardized and are controversial. Autism can also be divided into syndromal and non-syndromal autism, where the former is associated with severe or profound mental retardation or a congenital syndrome with physical symptoms, such as tuberous sclerosis.<ref name=Cohen>Modèle:Cite journal</ref> Although individuals with Asperger's tend to perform better cognitively than those with autism, the extent of the overlap between Asperger's, HFA, and non-syndromal autism is unclear.<ref>Modèle:Cite journal</ref>

Some studies have reported diagnoses of autism in children due to a loss of language or social skills, as opposed to a failure to make progress. Several terms are used for this phenomenon, including regressive autism, setback autism, and developmental stagnation. The validity of this distinction remains controversial; it is possible that regressive autism is a specific subtype.<ref name=Landa/><ref name=Volkmar>Modèle:Cite journal</ref>

Characteristics

Autism is distinguished by a pattern of symptoms rather than one single symptom. The main characteristics are impairments in social interaction, impairments in communication, restricted interests and repetitive behavior. Other aspects, such as atypical eating, are also common but are not essential for diagnosis.<ref name=Filipek/> Individual symptoms of autism occur in the general population and appear not to associate highly, without a sharp line separating pathological severity from common traits.<ref name=London/>

Social development

People with autism have social impairments and often lack the intuition about others that many people take for granted. Noted autistic Temple Grandin described her inability to understand the social communication of neurotypicals as leaving her feeling "like an anthropologist on Mars".<ref>Modèle:Cite book</ref>

Social impairments become apparent early in childhood and continue through adulthood. Autistic infants show less attention to social stimuli, smile and look at others less often, and respond less to their own name. Autistic toddlers have more striking social deviance; for example, they have less eye contact and anticipatory postures and are less likely to use another person's hand or body as a tool.<ref name=Volkmar/> Three- to five-year-old autistic children are less likely to exhibit social understanding, approach others spontaneously, imitate and respond to emotions, communicate nonverbally, and take turns with others. However, they do form attachments to their primary caregivers.<ref>Modèle:Cite journal</ref> They display moderately less attachment security than usual, although this feature disappears in children with higher mental development or less severe ASD.<ref>Modèle:Cite journal</ref> Older children and adults with ASD perform worse on tests of face and emotion recognition.<ref name=Sigman>Modèle:Cite journal</ref>

Contrary to common belief, autistic children do not prefer to be alone. Making and maintaining friendships often proves to be difficult for those with autism. For them, the quality of friendships, not the number of friends, predicts how lonely they are.<ref name=Burgess/>

There are many anecdotal reports, but few systematic studies, of aggression and violence in individuals with ASD. The limited data suggest that in children with mental retardation, autism is associated with aggression, destruction of property, and tantrums. Dominick et al. interviewed the parents of 67 children with ASD and reported that about two-thirds of the children had periods of severe tantrums and about one-third had a history of aggression, with tantrums significantly more common than in children with a history of language impairment.<ref name=Dominick/>

Communication

About a third to a half of individuals with autism do not develop enough natural speech to meet their daily communication needs.<ref>Modèle:Cite journal</ref> Differences in communication may be present from the first year of life, and may include delayed onset of babbling, unusual gestures, diminished responsiveness, and the desynchronization of vocal patterns with the caregiver. In the second and third years, autistic children have less frequent and less diverse babbling, consonants, words, and word combinations; their gestures are less often integrated with words. Autistic children are less likely to make requests or share experiences, and are more likely to simply repeat others' words (echolalia)<ref name=Landa/><ref name=Tager-Flusberg/> or reverse pronouns.<ref name=Kanner1943/> Autistic children may have difficulty with imaginative play and with developing symbols into language.<ref name=Landa>Modèle:Cite journal</ref><ref name=Tager-Flusberg>Modèle:Cite journal</ref> They are more likely to have problems understanding pointing; for example, they may look at a pointing hand instead of the pointed-at object.<ref name=Volkmar/><ref name=Tager-Flusberg/>

In a pair of studies, high-functioning autistic children aged 8–15 performed equally well, and adults better than individually matched controls at basic language tasks involving vocabulary and spelling. Both autistic groups performed worse than controls at complex language tasks such as figurative language, comprehension and inference. As people are often sized up initially from their basic language skills, these studies suggest that people speaking to autistic individuals are more likely to overestimate what their audience comprehends.<ref name=Williams/>

Repetitive behavior

Autistic individuals display many forms of repetitive or restricted behavior, which the Repetitive Behavior Scale-Revised (RBS-R)<ref name=RBS-R/> categorizes as follows.

• Stereotypy is apparently purposeless movement, such as hand flapping, head rolling, or body rocking.
• Compulsive behavior is intended and appears to follow rules, such as arranging objects in a certain way.
• Sameness is resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted.
• Ritualistic behavior involves the performance of daily activities the same way each time, such as an unvarying menu or dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors.<ref>Modèle:Cite journal</ref>
• Restricted behavior is limited in focus, interest, or activity, such as preoccupation with a single television program.
• Self-injury includes movements that injure or can injure the person, such as biting oneself. Dominick et al. reported that self-injury at some point affected about 30% of children with ASD.<ref name=Dominick/>

No single repetitive behavior seems to be specific to autism, but only autism appears to have an elevated pattern of occurrence and severity of these behaviors.<ref name=RBS-R>Modèle:Cite journal</ref>

Other symptoms

Autistic individuals may have symptoms that are independent of the diagnosis, but that can affect the individual or the family.<ref name=Filipek>Modèle:Cite journal Erratum (2000). J Autism Dev Disord 30 (1): 81. Modèle:Doi. PMID 10638459. This paper represents a consensus of representatives from nine professional and four parent organizations in the U.S.</ref> A small fraction of individuals with ASD show unusual abilities, ranging from splinter skills such as the memorization of trivia to the extraordinarily rare talents of prodigious autistic savants.<ref> Treffert DA

     (2007)
   
.    Savant syndrome: an extraordinary condition—a synopsis: past, present, future 
. Wisconsin Medical Society 
   

. Retrieved on 2007-09-19. </ref>

Unusual responses to sensory stimuli are more common and prominent in autistic children, although there is no good evidence that sensory symptoms differentiate autism from other developmental disorders.<ref>Modèle:Cite journal</ref> The responses may be more common in children: a pair of studies found that autistic children had impaired tactile perception while autistic adults did not. The same two studies also found that autistic individuals had more problems with complex memory and reasoning tasks such as Twenty Questions; these problems were somewhat more marked among adults.<ref name=Williams/> Several studies have reported associated motor problems that include poor muscle tone, poor motor planning, and toe walking; ASD is not associated with severe motor disturbances.<ref>Modèle:Cite journal</ref>

Atypical eating behavior occurs in about three-quarters of children with ASD, to the extent that it was formerly a diagnostic indicator. Selectivity is the most common problem, although eating rituals and food refusal also occur;<ref name=Dominick/> this does not appear to result in malnutrition. Although some children with autism also have gastrointestinal (GI) symptoms, there is a lack of published rigorous data to support the theory that autistic children have more or different GI symptoms than usual;<ref>Modèle:Cite journal</ref> studies report conflicting results, and the relationship between GI problems and ASD is unclear.<ref name=CCD/>

Sleep problems are known to be more common in children with developmental disabilities, and there is some evidence that children with ASD are more likely to have even more sleep problems than those with other developmental disabilities; autistic children may experience problems including difficulty in falling asleep, frequent nocturnal awakenings, and early morning awakenings. Dominick et al. found that about two-thirds of children with ASD had a history of sleep problems.<ref name=Dominick>Modèle:Cite journal</ref>

Parents of children with ASD have higher levels of stress.<ref>Modèle:Cite journal</ref> Siblings of children with ASD report greater admiration of and less conflict with the affected sibling; siblings of individuals with ASD have greater risk of negative well-being and poorer sibling relationships as adults.<ref>Modèle:Cite journal</ref>

Causes

Main article: Causes of autism

Although many genetic and environmental causes of autism have been proposed, its theory of causation is still incomplete.<ref>Modèle:Cite journal</ref> Some researchers argue this is because autism is not a single disorder, but rather a triad of core aspects (social impairment, communication difficulties, and repetitive behaviors) that have distinct causes but often co-occur.<ref name=HappeTime>Modèle:Cite journal</ref>

Genetic factors are the most significant cause for autism spectrum disorders. Early studies of twins estimated heritability to be more than 90%; in other words, that genetics explains more than 90% of autism cases.<ref name=Freitag/> This may be an overestimate; new twin data and models with structural genetic variation are needed.<ref name=Sykes/> When only one identical twin is autistic, the other often has learning or social disabilities. For adult siblings, the risk of having one or more features of the broader autism phenotype might be as high as 30%,<ref name=Folstein>Modèle:Cite journal</ref> much higher than the risk in controls.<ref>Modèle:Cite journal</ref>

The genetics of autism is complex.<ref name=Freitag/> Genetic linkage analysis has been inconclusive; many association analyses have had inadequate power.<ref name=Sykes>Modèle:Cite journal</ref> For each autistic individual, mutations in more than one gene may be implicated. Mutations in different sets of genes may be involved in different autistic individuals. There may be significant interactions among mutations in several genes, or between the environment and mutated genes. By identifying genetic markers inherited with autism in family studies, numerous candidate genes have been located, most of which encode proteins involved in neural development and function.<ref name=Persico>Modèle:Cite journal</ref><ref>Modèle:Cite journal</ref> However, for most of the candidate genes, the actual mutations that increase the risk for autism have not been identified. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to single chromosome abnormalities such as fragile X syndrome or 22q13 deletion syndrome.<ref name=Cohen/><ref name=Mueller/>

The large number of autistic individuals with unaffected family members may result from copy number variations (CNVs)—spontaneous alterations in the genetic material during meiosis that delete or duplicate genetic material. Sporadic (non-inherited) cases have been examined to identify candidate genetic loci involved in autism. Using array comparative genomic hybridization (array CGH), a technique for detecting CNVs, one study found them in 10% of families with one affected child.<ref>Modèle:Cite journal</ref> Some of the altered loci had been identified in previous studies of inherited autism; many were unique to the sporadic cases examined in this study. Hence, a substantial fraction of autism may be highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome. Although the fraction of autism traceable to a genetic cause may grow to 30–40% as the resolution of array CGH improves,<ref name=Beaudet>Modèle:Cite journal</ref> several results in this area have been described incautiously, possibly misleading the public into thinking that a large proportion of autism is caused by CNVs and is detectable via array CGH, or that detecting CNVs is tantamount to a genetic diagnosis.<ref>Modèle:Cite journal</ref> The Autism Genome Project database contains genetic linkage and CNV data that connect autism to genetic loci and suggest that every human chromosome may be involved.<ref>Modèle:Cite journal Corrigendum (2007). Nat Genet 39 (10): 1285. Modèle:Doi. PMID 17898782.</ref>

Teratogens (agents that cause birth defects) related to the risk of autism include exposure of the embryo to thalidomide, valproic acid, or misoprostol, or to rubella infection in the mother. These cases are rare.<ref name=Szpir>Modèle:Cite journal</ref> All known teratogens appear to act during the first eight weeks from conception, and though this does not exclude the possibility that autism can be initiated or affected later, it is strong evidence that autism arises very early in development.<ref name=Arndt>Modèle:Cite journal</ref> Although extensive searches are underway for other environmental causes,<ref name=Szpir/> evidence for them is anecdotal and has not been confirmed by reliable studies.<ref name=Rutter/> Several other pre- or post-natal environmental factors have been claimed to contribute to autism or exacerbate its symptoms, or may be important to consider in future research. They include certain foods,<ref name=Christison/> infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, and vaccines.<ref name=Newschaffer/> Although parents may first become aware of autistic symptoms in their child around the time of a routine vaccination, and parental concern about vaccines has led to a decreasing uptake of childhood immunizations and an increasing likelihood of measles outbreaks, there is overwhelming scientific evidence showing no causal association between the measles-mumps-rubella vaccine and autism, and there is no convincing evidence that the vaccine preservative thiomersal helps cause autism.<ref>Modèle:Cite journal</ref><ref>Modèle:Cite journal</ref>

Mechanism

Despite extensive investigation, how autism occurs is not well understood. Its mechanism can be divided into two areas: the pathophysiology of brain structures and processes associated with autism, and the neuropsychological linkages between brain structures and behaviors.<ref name=Penn>Modèle:Cite journal</ref> The behaviors appear to have multiple pathophysiologies.<ref name=London/>

Pathophysiology

Autism appears to result from developmental factors that affect many or all functional brain systems.<ref name=Mueller>Modèle:Cite journal</ref> Neuroanatomical studies and the associations with teratogens strongly suggest that autism's mechanism includes alteration of brain development soon after conception.<ref name=Arndt/> This localized anomaly appears to start a cascade of pathological events in the brain that are significantly influenced by environmental factors.<ref>Modèle:Cite journal</ref> Many major structures of the human brain have been implicated. Consistent abnormalities have been found in the development of the cerebral cortex; and in the cerebellum and related inferior olive, which have a significant decrease in the number of Purkinje cells. Brain weight and volume and head circumference tend to be greater in autistic children.<ref>Modèle:Cite journal</ref> The cellular and molecular bases of pathological early overgrowth are not known, nor is it known whether the overgrown neural systems cause autism's characteristic signs. Current hypotheses include:

• An excess of neurons that causes local overconnectivity in key brain regions.<ref>Modèle:Cite journal</ref>
• Disturbed neuronal migration during early gestation.<ref name=Persico/><ref name=Schmitz/>
• Unbalanced excitatory-inhibitory networks.<ref name=Persico/>
• Abnormal formation of synapses and dendritic spines.<ref name=Persico/>

Interactions between the immune system and the nervous system begin early during embryogenesis, and successful neurodevelopment depends on a balanced immune response. Several symptoms consistent with a poorly regulated immune response have been reported in autistic children. It is possible that aberrant immune activity during critical periods of neurodevelopment is part of the mechanism of some forms of ASD.<ref>Modèle:Cite journal</ref> As autoantibodies have not been associated with pathology, are found in diseases other than ASD, and are not always present in ASD,<ref>Modèle:Cite journal</ref> the relationship between immune disturbances and autism remains unclear and controversial.<ref name=Schmitz>Modèle:Cite journal</ref>

Several neurotransmitter abnormalities have been detected in autism, notably increased blood levels of serotonin. Whether these lead to structural or behavioral abnormalities is unclear.<ref name=Penn/> Also, some inborn errors of metabolism are associated with autism but probably account for less than 5% of cases.<ref name=Manzi/>

The mirror neuron system (MNS) theory of autism hypothesizes that distortion in the development of the MNS interferes with imitation and leads to autism's core features of social impairment and communication difficulties. The MNS operates when an animal performs an action or observes another animal of the same species perform the same action. The MNS may contribute to an individual's understanding of other people by enabling the modeling of their behavior via embodied simulation of their actions, intentions, and emotions.<ref>MNS and autism:

• Modèle:Cite journal
• Modèle:Cite journal</ref> Several studies have tested this hypothesis by demonstrating structural abnormalities in MNS regions of individuals with ASD, delay in the activation in the core circuit for imitation in individuals with Asperger's, and a correlation between reduced MNS activity and severity of the syndrome in children with ASD.<ref name=Iacoboni>Modèle:Cite journal</ref> A variant theory, EP-M, segments the MNS into an indirect route for goal emulation and planning (EP) and a direct route for mimicry (M), and hypothesizes that only the M route is impaired in autism.<ref>Modèle:Cite journal</ref> A 2007 study of autistic adults found evidence for altered functional organization of the task-negative network, a large-scale brain network involved in social and emotional processing, with intact organization of the task-positive network, used in sustained attention and goal-directed thinking.<ref>Modèle:Cite journal</ref>

The underconnectivity theory of autism hypothesizes that autism is marked by underfunctioning high-level neural connections and synchronization, along with an excess of low-level processes.<ref>Modèle:Cite journal</ref> Evidence for this theory has been found in functional neuroimaging studies on autistic individuals<ref name=Williams>Modèle:Cite journal</ref> and by a brain wave study that suggested that adults with ASD have local overconnectivity in the cortex and weak functional connections between the frontal lobe and the rest of the cortex.<ref>Modèle:Cite journal</ref> Other evidence suggests the underconnectivity is mainly within each hemisphere of the cortex and that autism is a disorder of the association cortex.<ref>Modèle:Cite journal</ref>

Neuropsychology

Two major categories of cognitive theories have been proposed about the links between autistic brains and behavior.

The first category focuses on deficits in social cognition. Hyper-systemizing hypothesizes that autistic individuals can systematize—that is, they can develop internal rules of operation to handle internal events—but are less effective at empathizing by handling events generated by other agents.<ref name=hypersystem>Modèle:Cite journal</ref> It extends the extreme male brain theory, which hypothesizes that autism is an extreme case of the male brain, defined psychometrically as individuals in whom systemizing is better than empathizing.<ref>Modèle:Cite journal</ref> This in turn is related to the earlier theory of mind, which hypothesizes that autistic behavior arises from an inability to ascribe mental states to oneself and others. The theory of mind is supported by autistic children's atypical responses to the Sally-Anne test for reasoning about others' motivations,<ref>Modèle:Cite journal</ref> and is mapped well from the mirror neuron system theory of autism.<ref name=Iacoboni/>

The second category focuses on nonsocial or general processing. Executive dysfunction hypothesizes that autistic behavior results in part from deficits in flexibility, planning, and other forms of executive function. A strength of the theory is predicting stereotyped behavior and narrow interests;<ref>Modèle:Cite journal</ref> a weakness is that executive function deficits are not found in young autistic children.<ref name=Sigman/> Weak central coherence theory hypothesizes that a limited ability to see the big picture underlies the central disturbance in autism. One strength of this theory is predicting special talents and peaks in performance in autistic people.<ref>Modèle:Cite journal</ref> A related theory—enhanced perceptual functioning—focuses more on the superiority of locally oriented and perceptual operations in autistic individuals.<ref>Modèle:Cite journal</ref> These theories map well from the underconnectivity theory of autism.

Neither category is satisfactory on its own; social cognition theories poorly address autism's rigid and repetitive behaviors, while the nonsocial theories have difficulty explaining social impairment and communication difficulties.<ref name=HappeTime/> A combined theory based on multiple deficits may prove to be more useful.<ref name=Rajendran>Modèle:Cite journal</ref>

Screening

Parents are usually the first to notice unusual behaviors in their child.<ref name=Strock>Modèle:Cite paper</ref> As postponing treatment may affect long-term outcome, any of the following signs is reason to have a child evaluated by a specialist without delay:

• No babbling by 12 months.
• No gesturing (pointing, waving goodbye, etc.) by 12 months.
• No single words by 16 months.
• No two-word spontaneous phrases (not including echolalia) by 24 months.
• Any loss of any language or social skills, at any age.<ref name=Filipek/>

The American Academy of Pediatrics recommends that all children be screened for ASD at the 18- and 24-month well-child doctor visits, using autism-specific formal screening tests.<ref>Modèle:Cite journal</ref> In contrast, the UK National Screening Committee recommends against screening for ASD in the general population, because screening tools have not been fully validated and interventions lack sufficient evidence for effectiveness.<ref>Modèle:Cite journal</ref>

Genetic screening for autism is generally still impractical. As 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>Modèle:Cite journal</ref>

Diagnosis

Diagnosis is based on behavior, not cause or mechanism.<ref name=London>Modèle:Cite journal</ref><ref>Modèle:Cite journal</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>Modèle:Cite book</ref> ICD-10 uses essentially the same definition.<ref name=ICD-10-F84.0>Modèle:Cite book</ref>

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/>

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>Modèle:Cite journal</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>Modèle:Cite journal</ref> ASD can sometimes be diagnosed by age 14 months,<ref>Modèle:Cite journal</ref> but 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>Modèle:Cite journal</ref>

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>Modèle:Cite journal</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>Modèle:Cite journal</ref>

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> Why get a diagnosis as an adult?

. The National Autistic Society 
 
 (2005)
   

. Retrieved on 2007-06-29. </ref>

Management

Main article: Autism therapies

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>Modèle:Cite journal</ref> claims that intervention by age two to three years is crucial are not substantiated.<ref name=Howlin06/> Among the available approaches, applied behavior analysis (ABA) has demonstrated efficacy in promoting social and language development and in reducing behaviors that interfere with learning and cognitive functioning;<ref name=SG/> ABA focuses on teaching tasks one-on-one using the behaviorist principles of stimulus, response and reward.<ref name=Howard/> Several programs are based on ABA. Some focus on discrete trial teaching; more-comprehensive ones use multiple assessment and intervention methods individually and dynamically.<ref>Modèle:Cite journal</ref> Cognitive therapies based on comprehensive programs in treatment centers are a common alternative: for example, TEACCH focuses on structuring the physical environment and using visual supports for language development tasks.<ref name=SG>Modèle:Cite book Retrieved on 2007-07-11.</ref> A 2005 California study found that early intensive behavior analytic treatment, a form of ABA, was substantially more effective for preschool children with autism than the mixture of methods provided in many programs,<ref name=Howard>Modèle:Cite journal</ref> but a 2007 British study found that home-based early intensive behavioral interventions, another ABA form, was no more effective than nursery-based eclectic programs.<ref>Modèle:Cite journal</ref> The limited research on the effectiveness of adult residential programs shows mixed results.<ref>Modèle:Cite journal</ref>

Medications are often used to treat problems associated with ASD. 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.<ref>Modèle:Cite journal</ref> In the United States, the antipsychotic risperidone is approved for treating symptomatic irritability in autistic children aged 5–16 years.<ref>Modèle:Cite journal</ref> Other drugs are prescribed off-label, which means they have not been approved for treating ASD. For example, some selective serotonin reuptake inhibitors and dopamine blockers can reduce some maladaptive behaviors associated with ASD.<ref>Modèle:Cite journal</ref> However, 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:

• Modèle:Cite journal
• Modèle:Cite journal</ref> A person with ASD may respond atypically to medications, the medications can have adverse side effects, and no known medication relieves autism's core symptoms of social and communication impairments.<ref name=Strock/><ref>Modèle:Cite journal</ref>

Many other therapies and interventions are available. Few are supported by scientific studies.<ref name=Francis>Modèle:Cite journal</ref><ref name=Sigman/><ref>Lack of support for interventions:

• Modèle:Cite journal
• Modèle:Cite journal
• Modèle:Cite bookPMID 16355605.
• Modèle:Cite journal
• Modèle:Cite journal</ref><ref name=Aman/> Treatment approaches lack empirical support in 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>Modèle:Cite journal</ref> Even if they do not help, conservative treatments such as changes in diet are expected to be harmless aside from their bother and cost.<ref name=Christison>Modèle:Cite journal</ref> Dubious invasive treatments are a much more serious matter: for example, in 2005, botched chelation therapy killed a five-year-old autistic boy.<ref>Modèle:Cite journal</ref>

Treatment is expensive;<ref>Modèle:Cite journal</ref> indirect costs are more so. A U.S. study estimated the average additional lifetime cost due exclusively to autism to be $3.2 million in 2003 U.S. dollars for an autistic individual born in 2000, with about 10% medical care, 30% nonmedical care such as child care and education, and 60% the lost economic productivity of individuals and their parents.<ref>Modèle:Cite journal</ref> A British study estimated an average lifetime cost of ₤2.4 million in 1997–1998 British pounds.<ref>Modèle:Cite journal</ref> Legal rights to treatment are complex, vary with location and age, and require advocacy by caregivers.<ref name=Aman>Modèle:Cite journal</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>Modèle:Cite journal</ref> After childhood, key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning.<ref name=Aman/>

Prognosis

There is no cure.<ref name=Francis/> Most children with autism lack social support, meaningful relationships, future employment opportunities or self-determination.<ref name=Burgess>Modèle:Cite journal</ref> Although core difficulties remain, symptoms often become less severe in later childhood.<ref name=Howlin06>Modèle:Cite journal</ref> Few high-quality studies address long-term prognosis. Some adults show modest improvement in communication skills, but a few decline; no study has focused on autism after midlife.<ref>Modèle:Cite journal</ref> Acquiring language before age six, having IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely with severe autism.<ref>Modèle:Cite journal</ref> A 2004 British study of 68 adults who were diagnosed before 1980 as autistic children with IQ above 50 found that 12% achieved a high level of independence as adults, 10% had some friends and were generally in work but required some support, 19% had some independence but were generally living at home and needed considerable support and supervision in daily living, 46% needed specialist residential provision from facilities specializing in ASD with a high level of support and very limited autonomy, and 12% needed high-level hospital care.<ref name=Howlin>Modèle:Cite journal</ref> A 2005 Swedish study of 78 adults that did not exclude low IQ found worse prognosis; for example, only 4% achieved independence.<ref>Modèle:Cite journal</ref> Changes in diagnostic practice and increased availability of effective early intervention make it unclear whether these findings can be generalized to recently diagnosed children.<ref name=Newschaffer/>

Epidemiology

Main article: Epidemiology of autism

Estimates of the prevalence of autism vary widely depending on diagnostic criteria, age of children screened, and geographical location.<ref>Modèle:Cite journal</ref> Most recent reviews tend to estimate a prevalence of 1–2 per 1,000 for autism and close to 6 per 1,000 for ASD;<ref name=Newschaffer>Modèle:Cite journal</ref> PDD-NOS is the vast majority of ASD, Asperger's is about 0.3 per 1,000 and the atypical forms childhood disintegrative disorder and Rett syndrome are much rarer.<ref>Modèle:Cite journal</ref> A 2006 study of nearly 57,000 British nine- and ten-year-olds reported a prevalence of 3.89 per 1,000 for autism and 11.61 per 1,000 for ASD; these higher figures could be associated with broadening diagnostic criteria.<ref name=Baird>Modèle:Cite journal</ref>

The risk of autism is associated with several prenatal and perinatal risk factors. A 2007 review of risk factors found associated parental characteristics that included advanced maternal age, advanced paternal age, and maternal place of birth outside Europe or North America, and also found associated obstetric conditions that included low birth weight and gestation duration, and hypoxia during childbirth.<ref>Modèle:Cite journal</ref>

About 10–15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic syndrome,<ref name=Folstein/> and ASD is associated with several genetic disorders.<ref>Modèle:Cite journal</ref> Autism is associated with mental retardation: a 2001 British study of 26 autistic children found about 30% with intelligence in the normal range (IQ above 70), 50% with mild to moderate retardation, and about 20% with severe to profound retardation (IQ below 35). For ASD other than autism the association is much weaker: the same study reported about 94% of 65 children with PDD-NOS or Asperger's had normal intelligence.<ref>Modèle:Cite journal</ref> ASD is also associated with epilepsy, with variations in risk of epilepsy due to age, cognitive level, and type of language disorder.<ref>Modèle:Cite journal</ref> Several metabolic defects, such as phenylketonuria, are also associated with autistic symptoms.<ref name=Manzi>Modèle:Cite journal</ref> Boys are at higher risk for autism than girls. The ASD sex ratio averages 4.3:1 and is greatly modified by cognitive impairment: it may be close to 2:1 with mental retardation and more than 5.5:1 without. Recent studies have found no association with socioeconomic status, and have reported inconsistent results about associations with race or ethnicity.<ref name=Newschaffer/> Phobias, depression and other psychopathological disorders have often been described along with ASD but this has not been assessed systematically.<ref>Modèle:Cite journal</ref>

Autism's incidence rate, despite its advantages for assessing risk, is less useful in autism epidemiology, as the disorder starts long before it is diagnosed, and the gap between initiation and diagnosis is influenced by many factors unrelated to risk. Attention is focused mostly on whether prevalence is increasing with time. Earlier prevalence estimates were lower, centering at about 0.5 per 1,000 for autism during the 1960s and 1970s and about 1 per 1,000 in the 1980s, as opposed to today's 1–2 per 1,000.<ref name=Newschaffer/>

The number of reported cases of autism increased dramatically in the 1990s and early 2000s. This increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, and public awareness,<ref>Changes in diagnostic practices:

• Modèle:Cite journal
• Modèle:Cite journal</ref> though as-yet-unidentified contributing environmental risk factors cannot be ruled out.<ref name=Rutter>Modèle:Cite journal</ref> A widely cited 2002 pilot study concluded that the observed increase in autism in California cannot be explained by changes in diagnostic criteria,<ref>Modèle:Cite paper</ref> but a 2006 analysis found that special education data poorly measured prevalence because so many cases were undiagnosed, and that the 1994–2003 U.S. increase was associated with declines in other diagnostic categories, indicating that diagnostic substitution had occurred.<ref>Modèle:Cite journal</ref> It is unknown whether autism's prevalence increased during the same period. An increase in prevalence would suggest directing more attention and funding toward changing environmental factors instead of continuing to focus on genetics.<ref name=Szpir/>

History

A few examples of autistic symptoms and treatments were described long before autism was named. The Table Talk of Martin Luther contains a story of a 12-year-old boy who may have been severely autistic.<ref>Modèle:Cite journal</ref> According to Luther's notetaker Mathesius, Luther thought the boy was a soulless mass of flesh possessed by the devil, and suggested that he be suffocated.<ref> Miles M

     (2005)
   
.    Martin Luther and childhood disability in 16th century Germany: what did he write? what did he say? 
. Independent Living Institute 
   

. Retrieved on 2007-07-18. </ref> Victor of Aveyron, a feral child caught in 1798, showed several signs of autism; the medical student Jean Itard treated him with a behavioral program designed to help him form social attachments and to induce speech via imitation.<ref name=Wolff>Modèle:Cite journal</ref>

The New Latin word autismus (English translation autism) was coined by the Swiss psychiatrist Eugen Bleuler in 1910 as he was defining symptoms of schizophrenia. He derived it from the Greek word autos (αὐτός, meaning self), and used it to mean morbid self-admiration, referring to "autistic withdrawal of the patient to his fantasies, against which any influence from outside becomes an intolerable disturbance."<ref>Modèle:Cite journal The quote is a translation of Bleuler's 1910 original.</ref>

The word autism first took its modern sense in 1938 when Hans Asperger of the Vienna University Hospital adopted Bleuler's terminology "autistic psychopaths" in a lecture in German about child psychology.<ref>Modèle:Cite journal</ref> Asperger was investigating a form of ASD now known as Asperger syndrome, though for various reasons it was not widely recognized as a separate diagnosis until 1981.<ref name=Wolff/> Leo Kanner of the Johns Hopkins Hospital first used autism in its modern sense in English when he introduced the label early infantile autism in a 1943 report of 11 children with striking behavioral similarities.<ref name=Kanner1943>Modèle:Cite journal</ref> Almost all the characteristics described in Kanner's first paper on the subject, notably "autistic aloneness" and "insistence on sameness", are still regarded as typical of the autistic spectrum of disorders.<ref name=HappeTime/> It is not known whether Kanner derived the term independently of Asperger.<ref>Modèle:Cite journal</ref>

Kanner's reuse of autism led to decades of confused terminology like "infantile schizophrenia", and child psychiatry's focus on maternal deprivation during the mid-1900s led to misconceptions of autism as an infant's response to "refrigerator mothers". Starting in the late 1960s autism was established as a separate syndrome by demonstrating that it is lifelong, distinguishing it from mental retardation and schizophrenia and from other developmental disorders, and demonstrating the benefits of involving parents in active programs of therapy.<ref>Modèle:Cite journal</ref> As late as the mid-1970s there was little evidence of a genetic role in autism; now it is thought to be one of the most heritable of all psychiatric conditions.<ref>Modèle:Cite book</ref> The rise of parent organizations and the destigmatization of childhood ASD have deeply affected how we view ASD, its boundaries, and its treatments.<ref name=Wolff/> The Internet has helped autistic individuals bypass nonverbal cues and emotional sharing that they find so hard to deal with, and has given them a way to form online communities and work remotely.<ref> Biever C

  . 
 "
   Web removes social barriers for those with autism
   
 " , New Scientist , 2007-06-30
 
 . </ref> Sociological and cultural aspects of autism have developed: some in the community seek a cure, while others believe that autism is simply another way of being.<ref name=Rajendran/><ref>   Harmon A
     
   
  . 
 "
   How about not 'curing' us, some autistics are pleading 
     
 " , New York Times , 2004-12-20
 
  . Retrieved on 2007-11-07
 . </ref>

References

External links

Modèle:Portal

• [{{{2}}} Catégorie Health/Mental_Health/Disorders/Neurodevelopmental/Autism_Spectrum] de l’annuaire dmoz.
• Connections to autism resources at the National Dissemination Center for Children with Disabilities

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