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  Autism  
     
 

Autism is a complex developmental disorder that has the following three defining core features:

  1. Problems with social interactions
  2. Impaired verbal and nonverbal communication
  3. A pattern of repetitive behavior with narrow, restricted interests
 
     
 

A number of other associated symptoms frequently coexist with autism

Most people with autism have problems using language, forming relationships, and appropriately interpreting and responding to the external world around them.

Autism is a behaviorally defined developmental disorder that begins in early childhood. Although the diagnosis of autism may not be made until a child reaches preschool or school age, the signs and symptoms of autism may be apparent by the time the child is aged 12-18 months, and the behavioral characteristics of autism are almost always evident by the time the child is aged 3 years.

Language delay in the preschool years (younger than 5 years) is typically the presenting problem for more severely affected children with autism. Higher functioning children with autism are generally identified with behavioral problems when they are aged approximately 4-5 years or with social problems later in childhood.Autism disorder persists throughout the person's lifetime, although many people are able to learn to control and modify their behavior to some extent.

Autism is classified by the American Psychiatric Association as one of a group of disorders known as the pervasive development disorders (PDD). In addition to autistic disorder, the other types of pervasive developmental disorders include Asperger's syndrome, childhood disintegrative disorder, Rett disorder, and pervasive developmental disorder not otherwise specified (PDD NOS).

All of these disorders are characterized by varying degrees of problems with communication, social interaction, and atypical, repetitive behaviors. This group of disorders is sometimes called the autism spectrum disorders (ASDs).

There is a wide range of symptoms, severity, and other manifestations of these disorders. The expression of autism spectrum disorders varies widely among affected individuals. A child with significant impairment in all three of the core functioning areas (socialization, communication, and atypical, repetitive behaviors) may have autism, while a child with similar problems but without delays in language development may have Asperger's syndrome.

Some people are affected with fairly mild symptoms and signs of autism. Many of these individuals learn to live independent lives. Others are more severely affected and require lifelong care and supervision.

Autism Causes

Although autism is the result of a neurologic abnormality, the cause of these problems with the nervous system is unknown in most cases. Research findings indicate a strong genetic component. Most likely, environmental, immunologic, and metabolic factors also influence the development of the disorder.

There is probably no single gene or genetic defect that is responsible for autism. Researchers suspect that there are a number of different genes that, when combined together, increase the risk of getting autism. In families with one child with autism, the risk of having another child with autism is 3% to 8%. The concordance of autism in monozygotic twins is 30%. A number of studies have found that first-degree relatives of children with autism also have an increased risk of autism spectrum disorders.

In some children, autism is linked to an underlying medical condition. Examples include metabolic disorders (untreated phenylketonuria [PKU]), congenital infections (rubella, cytomegalovirus [CMV],toxoplasmosis), genetic disorders (fragile X syndrome, tuberous sclerosis), developmental brain abnormalities (microcephaly, macrocephaly, cerebral dysgenesis), and neurologic disorders acquired after birth (lead encephalopathy, bacterial meningitis). These medical disorders alone do not cause autism as most children with these conditions do not have autism.

Environmental factors and exposures may interact with genetic factors to cause an increased risk of autism in some families.

Over time, many different theories have been proposed about what causes autism. Some of these theories are no longer accepted, however.

Emotional trauma: Some believed that emotional trauma at an early age, especially bad parenting, was to blame. This theory has been rejected.

Vaccines: Although the mercury preservative used in some vaccines is known to be neurotoxic, the most recent research on this subject does not suggest a specific link between vaccines and autism.

Autism Symptoms and Signs

Autism is a condition surrounded by myth and generalizations about people with autism that are rarely appropriate. The common beliefs that people with autism never express emotion, never smile or laugh, never make eye contact, never talk, and never display affection are simply that - myths. Just as every person is unique, with his or her own personality and characteristics, every person with autism manifests the disorder in his or her unique way.

The list of symptoms and behaviors associated with autism is long, and each affected person expresses his or her own combination of these behaviors. None of these clinical features is common to all people with autism, and many are occasionally exhibited by people who are not autistic.

That said, however, all people with autism have abnormal functioning in three core areas of development: social interaction, verbal and nonverbal communication, and the presence of repetitive and restricted patterns of behavior, interests, and activities. The diagnosis of autism is typically made when impairment is significant in all three areas.

Impaired reciprocal social interaction

Examples include the following:

poor use of body language and nonverbal communication, such as eye contact, facial expressions, and gestures;

lack of awareness of feelings of others and the expression of emotions, such as pleasure (laughing) or distress (crying), for
reasons not apparent to others;

remaining aloof, preferring to be alone;

difficulty interacting with other people and failure to make peer friendships;

may not want to cuddle or be cuddled;

lack of or abnormal social play;

not responding to verbal cues (acting as if deaf)

Impaired communication

Examples include the following:

delay in, or the total lack of, the development of spoken language or speech;

if speech is developed, it is abnormal in content and quality;

difficulty expressing needs and wants, verbally and/or nonverbally;

repeating words or phrases back when spoken to (known as echolalia);

inability to initiate or sustain conversation;

absent or poorly developed imaginary play.

Restricted repertoire of interests, behaviors, and activities

Examples include the following:

insisting on following routines and sameness, resisting change;

ritualistic or compulsive behaviors;

sustained odd play;

repetitive body movements (hand flapping, rocking) and/or abnormal posture (toe walking);

preoccupation with parts of objects or a fascination with repetitive movement (spinning wheels, turning on and off lights);

narrow, restricted interests (dates/calendars, numbers, weather, movie credits).

There are a number of associated features and behaviors that are seen in some people with autism, including the following:

Cognitive function:

Autism occurs at all intelligence levels. Although about 75% of autistic individuals have an intelligence quotient (IQ) below average, the other 25% have an average or above average intelligence. The performance IQ is generally higher than the verbal IQ. A small percentage have high intelligence in a specific area such as mathematics.

Neurologic function

Seizures may develop in 25% to 35% of children with autism and can be resistant to treatment. The onset of seizures peaks in early childhood and again in adolescence. There is an increased risk of seizures in children with autism who have mental retardation or a family history of autism.

Uneven gross and/or fine motor skills (well developed in some areas, poorly developed in others)

Behavioral symptoms include:

Aggressive or self-injurious behavior;

Noticeable extreme underactivity or overactivity;

Throwing tantrums;

Short attention span;

Abnormal responses to sensory stimuli (for example, expressing over sensitivity or undersensitivity to pain);

Abnormalities in eating or sleeping;

Not responding to normal teaching methods;

playing in odd or unusual ways;

Paving inappropriate attachment to objects;

Having no apparent fear of dangerous situations

Mood and affect

Mood and affect vary considerably, and may include being unaware of the feelings of others, withdrawn, or emotionally labile.

Some people with autism become outwardly anxious or they may become depressed in response to the realization of their
problems

In some children with autism who express affection, the affection may be indiscriminate.

When to Seek Medical Care

If an infant or toddler exhibits any unusual behaviors for a day or two after behaving completely normally, it probably means that he or she is coming down with a minor illness, doesn't feel well, or is tired or under some other form of stress. However, if the child has always had any of these characteristics, or the characteristic(s) continues over a period of time, a visit to the pediatrician or other health care provider is warranted.The average age for the diagnosis of autism is 4 to 6 years, although most parents suspected something was wrong by 18 months and voiced their concerns by age 2 years.

Some examples of behaviors that warrant seeking medical care include:

seems distant or oblivious to surroundings;

doesn't play or interact well with others;

is uncommunicative;

has problems speaking or understanding the speech of others;

has uncontrollable temper tantrums;

insists on sameness and routine;

engages in repetitive or compulsive actions.

Based on an understanding of potential early autism symptoms, the National Institute of Child Health and Human Development (NICHD) and experts recommend that babies or children be evaluated for autism who have not met the following developmental milestones:

Not babbled or cooed by age 1 year

Not gestured, pointed, or waved as an infant, by age 1 year

Not spoken a single word by age 16 months

Not spoken a 2-word phrase by age 2 years

Experiences any loss of language or social skills at any age

If even one of these statements is true of a child, parents should resist the temptation to "just wait and see." Problems of this type may signal some type of disability, even if it is not autism. Prompt diagnosis and early intervention are very important in improving the long-term outcomes for developmental disorders of all types, including autism.

Autism Treatment

A pediatrician will refer the caregiver and the child to a specialist in developmental disorders for the assessment. Some people may want to have this specialist treat their child's condition, but they are free to seek treatment elsewhere.

There is no standard treatment for autism, and different professionals have different philosophies and practices in caring for their patients.

You may want to talk to more than one specialist to find the one with whom you feel most comfortable.

Ask family members, friends, and the health care practitioner to obtain referrals. Call autism groups or check the Internet for referral services.

When seeking a specialist to treat a child's autism, the opportunity should be available to ask questions and discuss the treatments available to the child. Be aware of all the options so that an informed decision can be made.

A reputable specialist will present each type of treatment, provide the pros and cons, and make recommendations based on published treatment guidelines and his or her own experience.

The decision of which treatment to pursue is made with this specialist (with input from other members of the professional care team) and family members, but the decision is ultimately the caregivers'.

Be certain to understand exactly what will be done and why, and what can be expected from the choices

There is no cure for autism, nor is there a standard therapy that works for all people with autism. A number of different treatment approaches have evolved over time as we have learned more about autism.

Different approaches work for different people. Accepted interventions may work for some and not for others.

Different professionals, each with excellent credentials and experience, may disagree about what is the best approach for the child.

As a parent or caregiver, one will learn to weigh each treatment recommendation in light of what he or she knows about their child and what makes sense for him or her.

Whatever approach is used for the child, an individualized treatment plan designed to meet his or her unique needs is essential.

Most people with autism show developmental progress and respond to a combination of treatment and education.

The traditional approach for a child with autism includes special education and behavioral management. There is some evidence that the earlier behavioral, educational, speech, and occupational therapy is begun, the better the long-term outcome. This is often an intensive and long-term commitment, and there is no easy answer. Behavioral treatments, medications, and other treatments may help manage some of the problems associated with autism.

Treatment strategies used in autism include behavioral, educational, biomedical, and complementary therapies. Some of these are supported by scientific studies, while others are not. It is important to discuss and consider the research support for the treatments chosen.