What is autism?

Causes and Symptoms

Autism is a lifelong neurodevelopmental disorder that is almost always diagnosed in early childhood, though mild presentations may not be diagnosed until middle childhood. According to the fourth edition of the American Psychiatric Association’s
Diagnostic and Statistical Manual of Mental Disorders
(2000), autism is diagnosed if there is evidence of qualitative impairment in both social interaction and communication, together with a marked participation or interest in restricted and repetitive behaviors or activities. Autism also typically involves delays or abnormal functioning in imaginative and symbolic play in childhood. At least one of these symptoms must have been observed prior to age three for a diagnosis of autism to be made.

However, in the Diagnostic and Statistical Manual of Mental Disorders: DSM-5(5th ed., 2013), autistic disorder is no longer a separate diagnosis from autism spectrum disorder, which aggregates the formerly separate diagnoses of autism, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS). According to a 2012 press release from the American Psychiatric Association, these disorders "represent a continuum from mild to severe rather than a simple yes or no diagnosis to a specific disorder." Children with this diagnosis tend to demonstrate a wide range of behavioral, psychological, and physical symptoms at varying levels of severity.

As of 2014, the US Centers for Disease Control and Prevention reports that one in sixty-eight children has autism spectrum disorder, with boys being four times more likely than girls to have these conditions.

Some researchers have argued that autism has become increasingly prevalent, citing studies from the 1950s and 1960s that listed the incidence of autism at four to five cases per ten thousand children. However, it has also been suggested that the apparent rise in the incidence of autism simply reflects a rise in awareness of the disorder and an increase in the accuracy of the diagnostic criteria. Because of such debates, current research is more specifically examining mechanisms by which children may obtain autism, in addition to useful treatment methods.

The social interactions of individuals with autism are strikingly abnormal, ranging from self-imposed social isolation to somewhat engaged but inappropriate social behavior. Typically, those with autism avoid eye contact. They also demonstrate little if any facial expressiveness, and they generally do not produce social gesturing or body language. Individuals with autism generally lack empathy; they do not smile in response to other people’s expressions of happiness, nor do they attempt to comfort others in distress. While the majority of children with autism develop attachments to their parents and other caregivers, there is a marked aloofness and lack of social reciprocity in their interactions even with close others. In adults with autism, close friendships and romantic attachments are not common. It is often said that individuals with autism do not relate to other people as people, but rather treat people more like objects. A classic example of this is a child with autism leading an adult by the hand and then placing the adult’s hand on a door, rather than verbally or gesturally requesting that the door be opened.

Language development in children with autism is almost always delayed, and between 25 and 30 percent never acquire spoken language, despite having normal hearing abilities. Those individuals with autism who do develop language often show evidence of low-level linguistic disorders such as echolalia, persistent use of neologisms, pronoun reversals, and other grammatical anomalies. The subset of individuals with autism who develop fluent speech typically demonstrate poor conversational skills, related to the general lack of social reciprocity seen in autism. Their speech is often delivered in a monotone, is repetitive, and focuses mainly on their own concerns. Autistic speakers typically show little awareness of the perspectives or interests of their listeners. Individuals with autism also show deficits in receptive communication; there is reduced attention to human voices in general, poor understanding of nonverbal language—including gesture and vocal intonation—and difficulties with nonliteral language such as metaphor and irony.

Individuals with autism demonstrate a preoccupation with restricted and repetitive behaviors, interests, and activities. This focus on repetition can take a range of forms, from performance of stereotypies to compulsive insistence on daily routines to an intense focus upon specific, narrow topics of interest. Common stereotypies seen in autistic individuals are hand flapping, head banging, or more complex whole-body movements. Autistic children sometimes engage in self-injurious behavior patterns, such as self-biting or head banging, and/or self-soothing behaviors, such as rocking or self-stroking. Some children with autism also develop pica, eating such things as paper, paperclips, or dirt. More complex ritualistic behavior patterns might include compulsive hand washing, counting, or arrangement of possessions. This aspect of autism can also include intense preoccupation with highly restricted topics, such as weather patterns, buttons, or television schedules.

Another defining characteristic included in the diagnostic criteria for autism is a lack of imaginative or pretend play in childhood. This symptom may be related to the general literalness seen in autistic communication. The play of children with autism tends to be solitary and to involve the repetitive manipulation of objects. The one-sidedness of autistic children’s play and their generally impaired social interactions typically result in failure to develop peer relationships appropriate to their developmental level. Children with autism are therefore often cut off from their peer groups, which can cause feelings of loneliness and depression, especially as they approach adolescence.

Up to three-quarters of children with autism are also intellectually disabled, with an intelligence quotient (IQ) below 70. The mental profiles of autistic children can be uneven, however, with particularly low verbal IQ scores but normal or near-normal scores on measures of mathematical and spatial IQ.

As of the early twenty-first century, there is no known cause of autism. Risk factors include genetic relatedness, difficult birth, and comorbid disorders such as attention deficit hyperactivity disorder (ADHD) and obsessive-complusive disorder (OCD). In the 1990s, scientists investigated the claim, initially made by parents and bolstered by apparently rising rates of autism, that the measles, mumps, and rubella (MMR) vaccine, typically given around age eighteen months, caused autism in some cases. A number of thorough epidemiological studies found no evidence for a link between the MMR vaccine and autism, although some researchers suggested that the vaccine could exacerbate already-present autistic symptoms in toddlers.

Treatment and Therapy

There is no cure for autism, nor is there one single treatment. Because children with autism can display such a wide range of symptoms, the range of available treatments is also wide. Physicians, psychologists, and other health professionals focus on alleviating the symptoms that are the most disruptive to a particular individual with autism. Available treatments include behavior modification, social skills training, speech therapy, language therapy, occupational therapy, play therapy, music therapy, dietary interventions or other natural treatments, and medication, among others. Often a combination of these types of treatments will be used to address the therapeutic needs of an autistic individual.

One of the most successful treatments for autism has been intensive behavior modification therapy. In his book The Autistic Child: Language Development through Behavior Modification (1977), O. Ivar Lovaas describes a program of intensive one-on-one behavior modification therapy that can be highly effective in alleviating disturbing symptoms and in engendering positive social behaviors in autistic children. Lovaas’s technique is controversial because it involves both rewards for appropriate behaviors, such as making eye contact or maintaining conversation, as well as punishments for inappropriate behaviors, such as self-damaging acts, stereotypies, or pica. In a well-publicized legal case in the 1990s, Massachusetts banned the use of punishment in a school for autistic children. As a result, the children’s levels of self-injurious behavior increased, to the extent that the parents petitioned for punishment to be reinstated in the school’s behavior modification program. While the utility of punishment is generally acknowledged, many behavior modification therapists now suggest that the positive reinforcement of rewarding appropriate behavior is effective enough that punishment for inappropriate behavior is not necessary. Despite variations in philosophy and technique, behavior modification aimed at increasing social responsiveness and decreasing inappropriate behaviors is generally an essential component of therapy for autistic children.

Social skills training is used to encourage individuals with autism to adhere to the implicit rules of conversation and social interaction (for example, looking at people’s faces when speaking to them). Occupational therapy focuses on teaching skills that allow individuals with autism to participate in daily life: crossing a street, preparing simple meals, making purchases, and answering the telephone. Play therapy involves entering the world of the autistic individual—in the case of children, spending “floor time” with them to break through their aloofness. Music therapy has been used to draw emotional responses from children with autism, with varied levels of success. Dietary interventions have also been found to alleviate some of the symptoms of autism in certain cases.

No drug is specifically prescribed for autism; however, various medications are sometimes used to treat the symptoms of autism. Stimulant drugs may be used to treat the inattentiveness of autistic children who are particularly isolated and unresponsive. Tranquilizing drugs may be prescribed to manage obsessive-compulsive behaviors that are disruptive to normal functioning. Antidepressants are also sometimes prescribed for autistic children to heighten emotional responsiveness and/or to stabilize mood. As many as one-third of children with autism develop seizures, often in adolescence, that are similar to epileptic seizures. These seizures are usually treated with medication.

Outcomes for individuals with autism depend on the severity of their symptoms. Autistic individuals with mild impairments can live at home, participate in family and social life, go to mainstream schools, and eventually take on appropriate paid work. In fact, some highly repetitive occupations, such as shelving books in a library or entering computer data, may fit extremely well with the desires and talents of individuals with autism. Some people with autism are very high-achieving. Those with more profound autistic symptoms or significant intellectual disability may go to special schools, participate in remedial programs, or live in special residential facilities. Whatever the setting, individuals with autism respond most positively to a highly structured environment in which the other people are understanding and tolerant of their social and communicative abnormalities.

Parents, siblings, and friends of individuals with autism may also benefit from therapy. Life with an autistic person can be rewarding, especially when progress is made, but it can also be frustrating and depressing. Often the parents, siblings, and friends of children with autism, as well as professionals working with such children, feel rejected by the autistic tendency to avoid close social contact. Most professionals suggest that anyone who spends extended periods of time with an individual with autism will benefit from some form of training and/or emotional support.

Perspective and Prospects

Though it is likely to be an old syndrome, autism was first described in the 1940s. Leo Kanner in the United States and Hans Asperger in Austria independently published papers describing children with severe social and communicative impairments. Both Kanner and Asperger used the term "autism" (meaning “alone”) to describe the syndromes they had identified. Kanner described children who had impoverished social relationships from early in life, employed deviant language, and were subject to behavioral stereotypies. Asperger’s description identified children with normal IQs and normal language development who suffered from social and some types of communicative impairments. As of the early twenty-first century, there is ongoing controversy as to whether autism and Asperger syndrome represent two ends of a single spectrum disorder or whether individuals with Asperger syndrome constitute a distinct clinical group.

In his original report, Kanner observed that the parent-child relationships in cases of children with autism appeared to be somewhat unusual. This suggestion fit with the tenor of the times, in which psychology and psychiatry were dominated by Freudian theories. Thus early explanations of autism, now discredited, suggested that children developed the syndrome as a result of cold, abusive, or confusing home environments (references were made to “refrigerator mothers”), and early treatments of autism focused on improving parent-child relationships or removing children with autism from their home environments.

In the twenty-first century, work on autism has focused on the physiological and cognitive aspects of the disorder. Brain studies utilizing functional magnetic resonance imaging (fMRI) and positron emission tomography (PET) scanning have uncovered several abnormalities in the brains of individuals with autism, including larger than normal brains, and abnormal functioning in the areas thought to be responsible for social interactions. In particular, the structure and functioning of the mirror neuron system, hypothesized to be the structural substrate for empathy, have been shown to be abnormal in individuals with autism. Cognitive studies of autism have suggested that the perceptual and reasoning proclivities of individuals with autism are abnormal. One hypothesis is that autistic individuals’ minds are characterized by “weak central coherence,” such that they prefer to focus on details and parts rather than on global wholes, leading to the tendency to focus on concrete minutia while avoiding complex and dynamic human interaction. Another hypothesis is that individuals with autism lack a “theory of mind,” which results in an inability to consider others’ emotions, perspectives, desires, and thoughts.

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