Autism is a developmental disorder characterized by difficulties with social interaction and communication and by restricted and repetitive behaviour. Parents usually notice signs during the first three years of their child’s life. These signs often develop gradually, though some children with autism reach their developmental milestones at a normal pace before worsening.
Autism is associated with a combination of genetic and environmental factors. Risk factors during pregnancy include certain infections, such as rubella, toxins including valproic acid, alcohol, cocaine, pesticides and air pollution, foetal growth restriction, and autoimmune diseases. Controversies surround other proposed environmental causes; for example, the vaccine hypothesis, which has been disproven. Autism affects information processing in the brain by altering connections and organization of nerve cells and their synapses. How this occurs is not well understood. In the DSM-5, autism and less severe forms of the condition, including Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS), have been combined into the diagnosis of autism spectrum disorder (ASD).
Early speech therapy or behavioural interventions can help children with autism gain self-care, social, and communication skills. Although there is no known cure, there have been cases of children who recovered. Not many children with autism live independently after reaching adulthood, though some are successful. An autistic culture has developed, with some individuals seeking a cure and others believing autism should be accepted as a difference and not treated as a disorder.
Causes
It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism’s characteristic triad of symptoms. However, there is increasing suspicion that autism is instead a complex disorder whose core aspects have distinct causes that often co-occur.
Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects, or by rare multigene interactions of common genetic variants. Complexity arises due to interactions among multiple genes, the environment, and epigenetic factors which do not change DNA sequencing but are heritable and influence gene expression. Many genes have been associated with autism through sequencing the genomes of affected individuals and their parents.
Studies of twins suggest that heritability is 0.7 for autism and as high as 0.9 for ASD, and siblings of those with autism are about 25 times more likely to be autistic than the general population. However, most of the mutations that increase autism risk have not been identified. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to a single chromosome abnormality, and none of the genetic syndromes associated with ASDs has been shown to selectively cause ASD. Numerous candidate genes have been located, with only small effects attributable to any particular gene. Most loci individually explain less than 1% of cases of autism.
A large number of autistic individuals with unaffected family members may result from spontaneous structural variation — such as deletions, duplications or inversions in the genetic material during meiosis. Hence, a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome. Autism may be underdiagnosed in women and girls due to an assumption that it is primarily a male condition.
Maternal nutrition and inflammation during preconception and pregnancy influence foetal neurodevelopment. Intrauterine growth restriction is associated with ASD, in both term and preterm infants. Maternal inflammatory and autoimmune diseases may damage foetal tissues, aggravating a genetic problem or damaging the nervous system.
Exposure to air pollution during pregnancy, especially heavy metals and particulates, may increase the risk of autism. Environmental factors that have been claimed without evidence to contribute to or exacerbate autism include certain foods, infectious diseases, solvents, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, vaccines, and prenatal stress. Some such as the MMR vaccine have been completely disproven.
Parents may first become aware of autistic symptoms in their child around the time of routine vaccination. This has led to unsupported theories blaming vaccine “overload”, a vaccine preservative, or the MMR vaccine for causing autism. The latter theory was supported by a litigation-funded study that has since been shown to have been “an elaborate fraud”. Although these theories lack convincing scientific evidence and are biologically implausible, parental concern about a potential vaccine link with autism has led to lower rates of childhood immunizations, outbreaks of previously controlled childhood diseases in some countries, and the preventable deaths of several children.
Prognosis
There is no known cure. Children recover occasionally so that they lose their diagnosis ASD; this occurs sometimes after intensive treatment and sometimes not. It is not known how often recovery happens; reported rates in unselected samples have ranged from 3% to 25%. Most children with autism acquire language by age five or younger, though a few have developed communication skills in later years. Most children with autism lack social support, meaningful relationships, future employment opportunities or self-determination. Although core difficulties tend to persist, symptoms often become less severe with age.
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. Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely with severe autism.
Many individuals with autism face significant obstacles in transitioning to adulthood. Compared to the general population individuals with autism are more likely to be unemployed and to have never had a job. People in their 20s with autism have an employment rate of 58 %.
