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What is autism?

Autism is a complex deve­lop­mental disorder with a wide spec­trum that occurs in the first three years of life. Often, however, it is not diagnosed until much later, on average at 5 1/2 years of age. Autism has an impact on the brain in terms of social and commu­ni­ca­tive skills.

Signs of autism

General signs of the autistic spec­trum include mild to severe impairments in social inter­ac­tions and verbal and non-verbal commu­ni­ca­tion, percep­tual disor­ders, as well as limited and repe­ti­tive beha­vioral patterns.

  • Changed sensory percep­tion
  • Deve­lop­ment of rituals and stereo­types
  • Disrup­tion of all commu­ni­ca­tion
  • Disrup­tion in social beha­vior and under­stan­ding
  • Disrup­tion in play skills and directed atten­tion

Symptoms of the autistic spec­trum range from very mild to very severe

The diagnosis of autism has been around since …

In 1943, autism was first reco­gnized by Dr. Leo Kanner of John Hopkins Hospital. At the same time, the German scien­tist Dr. Hans Asperger has described a milder form of the autistic state, now known as asperger syndrome. The diagnosis of “autistic spec­trum” includes:

  • Symptoms of the autistic spec­trum range from very mild to very severe
  • Infan­tile autism, asperger syndrome
  • Rett Syndrome
  • PDD NOS (perva­sive deve­lop­mental disorder, without further speci­fi­ca­tion)

In the recent diagnostic there is a summary term: autism spec­trum disorder (ASD) which includes all former diagnoses of autism

How many people are affected?

Autism is a condi­tion with a broad spec­trum. A steadily increa­sing percen­tage of the popu­la­tion is affected (1 in 59, according to esti­mates by the CDC’s autism and deve­lop­mental disa­bi­li­ties moni­to­ring (ADDM) network, Surveil­lance Summa­ries / April 27, 2018 / 67(6); 1–23). Boys are 4 times as likely as girls to be affected.

The exact number of children with autism is not known. A report by the US center for disease control and preven­tion shows that autism and related limi­ta­tions are more common than previously thought. It is unclear whether this is due to the rising rate of autism or an increased ability to diagnose this condi­tion.

Autism is difficult to diagnose

Unlike other limi­ta­tions and condi­tions, the symptoms of autism are usually not appa­rent at birth. The autistic signs usually become appa­rent in the first three years of life. There is curr­ently no blood or DNA test to diagnose autism.

Autism is a series of symptoms. After these, the doctor usually don’t look until certain deve­lop­mental delays and limi­ta­tions cannot be explained in any other way.

Symptoms of autism

Children with autism usually have diffi­cul­ties in verbal and non-verbal commu­ni­ca­tion, social inter­ac­tion and imagi­nary play. Some also show aggres­sion towards other people or them­selves.

Indi­vi­duals with autism can display repe­ti­tive body move­ments, unusual prefe­rences to items and conspi­cuous diffi­culty chan­ging routines. Some indi­vi­duals with autism are sensi­tive in the sensory percep­tion (vision, hearing, touch/feeling, smell and taste). For example, some children refuse to wear “scratchy” clothes and become very stressed when forced to do so, as their skin is so sensi­tive.

Some combi­na­tions of the follo­wing charac­te­ris­tics can occur in diffe­rent propor­tions in people with autism.

Communication

  • Lack to draw the atten­tion of others to objects (around the 14th month of life)
  • Doesn’t focus on the things others look at
  • Is unable to start or sustain a conver­sa­tion
  • Slow or no language deve­lop­ment
  • Repea­ting words or memo­rized phrases, for example from adver­ti­se­ments or movies
  • Doesn’t refer to oneself correctly (for example, says “you want water” when meaning “I want water”)
  • Deploys nonsen­sical rhymes

Commu­ni­cates with gestures instead of vocal language

Reaction to sensory information

  • Has an increased or low percep­tion in sight, hearing, touching, feeling, smell or taste
  • Seems to have increased or low pain sensa­tion
  • May with­draw physical contact because it is perceived as over-stimu­la­ting or over­whel­ming
  • Doesn’t wince to loud noises
  • Could find ever­yday sounds painful and cover own ears with their hands
  • Rubs surfaces, takes objects in their mouth or licks them
  • Shows little or no imagi­nary play
  • Does not imitate the activi­ties and move­ments of other people

Prefers to play alone or ritua­lized

Social Interaction

  • Lack of compas­sion
  • Diffi­cul­ties to make friends
  • Is non-commu­ni­ca­tive
  • Prefers to be alone rather than with others
  • May not respond to eye contact or smile
  • Avoids eye contact
  • Treats others as if they were items

Doesn’t play inter­ac­tive games

Behavior

  • Has a short atten­tion span
  • Shows repe­ti­tive body move­ments
  • Shows a strong need for routines
  • Has very violent outbursts
  • Has very limited inte­rests
  • Perse­vera­tion on the same subject or thoughts

Is aggres­sive towards oneself or others

Signs and tests

All children should have a pediatric consul­ta­tion for routine deve­lop­mental evalua­tions. Further inves­ti­ga­tion may be necessary if there are concerns on the part of the parents or the doctor. This is espe­ci­ally important if the child has not reached any of the follo­wing mile­stones in language deve­lop­ment:

Making sounds at 12 months

Gestures (pointing, waving) at 12 months

Single words at 16 months

Spontaneous two-word sentences at 24 months (not just repeating)

Loss of language or social ability at any age level

Children may then be given a hearing test, blood test (lead poiso­ning), and a test to rule out autism.

The actual diagnosis should be made by a doctor who has expe­ri­ence in diagno­sing and trea­ting autism. Because there is no biolo­gical test for autism, the diagnosis is often based on very specific criteria (set out in ICD 10).

Autism involves a wide range of symptoms. There­fore, a single, short assess­ment cannot foresee the true abili­ties of the child. ideally, a team of diffe­rent specia­lists should evaluate the child. Language, commu­ni­ca­tion, thin­king ability, motor skills, success in school or preschool and other factors should be looked at.

Some are reluc­tant to diagnose a child with autism because of concerns about labe­ling the child. However, failure to diagnose means that, unfor­tu­n­a­tely, the child does not receive the necessary inst­ruc­tion and support.

Questions to clarify autistic tendencies

There are 5 areas of early child­hood beha­viors where there are varia­tions in normal deve­lop­ment in children with autism. I would like to explain this in more detail. This can help you to initiate a more detailed evalua­tion for autism as soon as possible.

Beha­viors are shown In each of the 5 areas. If your child does not display any of these skills, or they can be observed only in a few areas, this is a warning signal. Please consider to clarify this with your doctors. Please note that the absence of neuro­ty­pical beha­vior is more diffi­cult to deter­mine than the presence of atypical beha­viors.

1. Does the child respond to own name when called by his caregiver(s)?

Within the first few months of life, infants respond to their own name by orien­ting them­selves according to the person who called them. Typi­cally deve­lo­ping infants usually react to the voice of well-known people with eye-contact and also with a smile.

By contrast, todd­lers who are later diagnosed with autism mostly don’t respond to their name. They also often react only to a limited extent. It also happens that they comple­tely ignore some sounds, but react to others very directly. For example, they may not show a reac­tion when they are called by their name by their parents. But they hear imme­dia­tely, when the TV is turned on. It is not uncommon for parents to suspect that their child is hard of hearing or deaf.

2. Does the toddler have joint attention?

Towards the end of the first year of life, most todd­lers start by looking at the same items or activi­ties as their care­giver. In order to create a common atten­tion with the care­giver, typi­cally deve­lo­ping children begin to turn their gaze from toys to the person. They follow the poin­ting of others with the gaze and observe the direc­tion in which others are looking. They point to things and activi­ties to share inte­rest or to show other toys.

This beha­vior has a certain quality of commu­ni­ca­ting. For example, the toddler might point to a plane flying over his head, looking at his mother or father as if to say, “Look there!”

In contrast, todd­lers with autism have great diffi­culty sharing atten­tion with others. They rarely turn their gaze to showing others. They don’t often switch their gaze from items to people. And they don’t really seem to be present when the care­giver watches things, people or activi­ties and talks about them. They rarely turn their gaze to show some­thing to others.

3. Does the child imitate others?

Typi­cally deve­lo­ping todd­lers are imita­tors. Even babies can mimic facial move­ments (for example sticking out tongue or opening their mouths). Already at the age of 8 to 10 months, the mother and toddler mimic each other’s sounds and move­ments. Imita­tion also plays a very big role in well-known finger games, such as “pat-a-cake” or “how big?” (“how big is …? This big!” while the child stret­ches her arms up).

Todd­lers with autism mimic other people less often. They demons­trate fewer imita­tions with the body or face (waving, making faces, playing toddler games) and also mimic less with objects.

4. Does the child respond emotionally to others?

Typi­cally deve­lo­ping children react soci­ally to others. They smile when they are smiled, they also initiate smiles and laugh when playing with toys or others. When typi­cally deve­lo­ping children watch other children cry, they may start to cry them­selves or look distressed. Slightly older todd­lers then perhaps crawl close to the crying person, cares­sing or trying to offer comfort in other ways. These some­what later beha­viors indi­cate compas­sion and can be observed espe­ci­ally in children in the second year of life.

In contrast, children with autism seem not to perceive the feelings of others. They don’t notice the smiles of others and there­fore they don’t look. They might not smile back in response to each other’s smiles, either. They may ignore the sadness of other people.

Several scien­tists have shown that children with autism are more likely to be distressed than compas­sio­nate when another injures them­selves. For example, if an adult pretends to get their knee injured, young children with autism look less at the adult or show concern in the facial expres­sion.

5. Does the child play imaginary games?

Someone once said, “playing is the child’s work.” Todd­lers love role play in which they pretend to be a mother, a father, a baby, a fire­fighter or a horse. Although the children play with toys at about 6 months old, it does not come to the pretend play until the end of the first year of life. This way of playing, for example, could start by feeding the mother or a doll. Or the child combs the doll or puts the bear to bed. Around the second birthday, children play imagi­nary games. Dolls then take on human quali­ties such as speaking or house­hold routines are re-enacted. The children may then imagine that a sponge is some­thing to eat, a buil­ding block a hat or a plastic bowl a swim­ming pool with water.

In contrast, the play of children with autism high­lights many defi­cits. The toddler may not be inte­rested in objects at all, or the inte­rest is more focused on the move­ment of her own hand or on a piece of string. If they are inte­rested in toys, it is often only very specific toys that elicit inte­rest. These are used in a repe­ti­tive way, which doesn’t align with the way most other kids would play with the toy. One may be more inte­rested in flip­ping a toy car and spin­ning the wheels instead of pushing the car back and forth. Summing up, the quali­ties of pretend play are comple­tely absent from children with autism under the age of two.

Autism in infancy

According to a study by Gill­berg, it is possible to detect signs of autism or autistic symptoms even in infants. The symptoms mostly reported are in the areas of eye-contact, hearing and playing.

Look

Avoi­ding eye-contact Is often referred to as a charac­te­ristic for children with autism. Here, however, it is above all the quality of the eye-contact that matters. Many children don’t seem to see people at all and there­fore don’t look them in the eye. In an infant with autism, the viewing takes place briefly and out of the corner of the eye.

Hearing

Special features of hearing are of great impor­t­ance, but diffi­cult to clas­sify. Many children are consi­dered to have hearing diffi­cul­ties in the begin­ning. Very few children are deaf. However, they don’t respond to their name and don’t seem to be swayed by noise-like changes around them. Children with autism even seem to ignore very loud noises that would make most other children shrug. This could have some­thing to do with a gene­ra­lized disin­te­rest in the envi­ron­ment.

Because children with autism are very sensi­tive to certain sounds, this could be related to an unusual percep­tion. For example, children with autism some­times develop a fasci­na­tion for certain sounds such as from a toy or react to the noise caused by remo­ving the packa­ging of a choco­late bar at a greater distance. Other sounds, on the other hand, then appear to cause extreme discom­fort, such as police sirens or the barking of a dog.

Social development and play

In infants, play and social inter­ac­tion are so directly linked that it is precisely at this stage of deve­lop­ment that the beha­vior of the child is conspi­cuous. Infants with autism often show no inte­rest in the games that require social inter­ac­tion with parents.

The absence of this joint activity seems to be very signi­fi­cant. The study by Frith and Soares shows that state­ments by parents with children with autism show an absence of common inte­rests and activi­ties within the first year of life. The children do not point to things that inte­rest them, do not take an active part of finger games and do not want to carry out activi­ties toge­ther.

Transfer (referral) to specialist:

Early concerns of parents about progress in the infant’s deve­lop­ment should be taken into account. When a mother expresses fears about the social and emotional responses, as well as the skills in percep­tion, profes­sio­nals should be on alert regar­ding autism.

Adequate refer­rals to specia­lists for children with and without deve­lop­mental disa­bi­li­ties could mean that the diagnosis can be made faster than in the past. While infants can show autistic traits, only a compre­hen­sive diagnostic approach can reveal whether they have autism or have beha­vioral charac­te­ris­tics of other diffi­cul­ties.

A professional assessment is necessary

This is best clari­fied in a child deve­lop­ment unit. Several experts are needed for this, because good team colla­bo­ra­tion yields better results for an accu­rate diagnosis. The assess­ment includes an over­view of family history, pregnancy, child beha­vior and progress in deve­lop­ment. A physical exami­na­tion is necessary to detect hidden medical condi­tions that contri­bute to devia­tions or delays in expected deve­lop­ment.

The deve­lop­ment inves­ti­ga­tion includes:

  • Fine and gross motor skills
  • Language (language compre­hen­sion, expres­sive language and sound produc­tion)
  • Sensory percep­tion
  • Social and emotional deve­lop­ment
  • Play

The quality of deve­lop­ment is an important factor in the assess­ment. It’s a big diffe­rence, for example, whether skills are only present, or whether they are also used for social beha­vior. A child with autism may have the ability to repeat words, but not yet an under­stan­ding of their meaning. Or a toddler with autism can point to things, but doesn’t use that ability to draw another person’s atten­tion to it.

Ideally, children should be observed in their ever­yday envi­ron­ment, for example at home or in daycare.

Diagnosis of autism is unli­kely to occur within just one exami­na­tion date, espe­ci­ally if the child is still very small.

Close moni­to­ring of deve­lop­ment and regular assess­ments are necessary to get a full over­view. But regard­less of a defi­ni­tive diagnosis of autism or autistic spec­trum, help can be offered to the children and their parents. Infants suspected of a deve­lop­mental disorder (autism autistic spec­trum) may receive services tailored to each needs. Parents can be inst­ructed on how to support their child in the respec­tive stages of deve­lop­ment.

Diagnosis

A child is diagnosed with autism when they show diffe­rent forms of beha­vior in three deficit areas. These three areas are:

  1. Social inter­ac­tion
  2. Commu­ni­ca­tion
  3. Behavior/ inte­rest.

Defi­cits of the autistic spec­trum include:

  1. Lack of eye-contact
  2. Missing rela­ti­onship buil­ding with peers
  3. Diffi­culty putting oneself in the posi­tion of others
  4. Lack of pretend play

When proper teaching is not given, many children are controlled by the effects of autism until they can no longer manage even simple human inter­ac­tions.

The autism spec­trum can usually be reli­ably diagnosed at age three. In the mean­time, the latest rese­arch supports the diagnosis of autism even at the age of six months.

Act!

Parents are the first to notice their child’s extra­or­di­nary beha­vior and, compared to other children, see that their child is not reaching the usual stages of deve­lop­ment. Some parents describe that their child seemed diffe­rent from birth. While other parents describe their child deve­lo­ping normally but then losing skills.

Pediatri­cians often over­look the first signs of autism and advise parents to wait and see, with the explana­tion that the child is a late bloomer. New rese­arch shows that parents’ first assump­tions that some­thing is wrong with the child are often confirmed. If you have concerns about the deve­lop­ment of your child (or a child you work with), don’t hesi­tate. Talk to a doctor (or parents) to clarify autism. That’s the best thing you can do for the child.

The earlier intervention starts, the better

If your child is diagnosed with autism, early inter­ven­tion is essen­tial to get the most benefit from exis­ting thera­pies. Even if many parents have concerns about putting the label “autism” on the toddler, the earlier the diagnosis is made, the earlier the inter­ven­tion can take place.

Science shows that early inten­sive inter­ven­tion with ABA/VB (Applied Beha­vior Analysis and Verbal Beha­vior) for at least two years of preschool age can bring outstan­ding impro­ve­ments for many children on the autistic spec­trum.

Once autism is diagnosed, inten­sive inter­ven­tion should begin. Effec­tive ABA/VB programs focus on deve­lo­ping commu­ni­ca­tion, as well as teaching social and cogni­tive skills.

Causes and risk factors

Autism is a physical condi­tion asso­ciated with a change in brain biology and chemi­stry. The exact causes of these changes are still unknown, but rese­arch is very active in this area. Pres­um­ably, there is a combi­na­tion of factors that lead to autism.

Genetic predis­po­si­tion seems to play an important role in autism. Iden­tical twins seem to be more likely to have autism than fraternal twins or other siblings. Language problems are also more common among rela­tives of children with autism. Changes in chro­mo­somes and other neuro­lo­gical problems are also more common in fami­lies with autism.

A whole number of possible causes of autism are suspected but have not been proven. These include changes in the diges­tive tract, diet, mercury poiso­ning, response to vacci­na­tions and insuf­fi­cient utili­za­tion of vitamins and mine­rals in the body.

Autism affects boys four times as likely as girls.

Family income, parenting/education, life­style, race or reli­gious affi­lia­tion do not appear to affect the risks of autism.

Studies on autism

Infor­ma­tion on autism and current rese­arch