Appendix 2: Autism Spectrum Disorder—The Facts

Autism Spectrum Disorder: A Definition

Autism spectrum disorder (ASD) is a neurological disorder that affects a child’s behaviour, communication and social skills. Most children with ASD will master early motor skills such as sitting, crawling and walking on time, so parents may not initially notice delays in social and communication skills. For some children, the earliest sign of autism is a gradual (sometimes sudden), loss of language skills which the child had demonstrated previously, along with becoming withdrawn.

ASD affects all ages, ethnic and socioeconomic groups. It seems to be increasing in frequency, the reasons are unclear but some argue that perceived increase may be due to greater awareness of, and screening for, the condition as well as including milder symptoms of the disorder in the definition. According to Autism Spectrum Australia (ASPECT) it is estimated that one in one hundred people are affected by ASD; that is 230,000 Australians. Boys are four times more likely as girls to have the condition. In the United States, the Center for Disease Control and Prevention (CDC) recently announced that one in sixty-eight children has ASD and boys are five times more likely than girls to have the disorder. It is five times more likely to occur in children with a low birth-weight and prematurity than in the general population.

Prior to 2013, ASD was described as a diagnosis with several different subdiagnoses. Using information from 1994 to 2013, the American Psychiatric Association modified and published a new definition of ASD in the Diagnostic and Statistical Manual of Mental Disorders – 5. There are no longer different types or subdiagnoses. The diagnosis is now autism spectrum disorder.

The earlier in life the diagnosis of ASD is made, the sooner an early intervention (EI) program can begin. Intervention as young as possible can improve outcomes for many children with ASD.

Common Signs of Autism

The principal feature of ASD is impaired social interaction. Even in infancy, a baby with ASD may not respond to people or may focus intently on one item for long periods of time. A child with ASD may appear to be developing normally and then withdraw and become indifferent to social interaction. The following are examples of how a child with ASD may act:

• No babbling or pointing by age one year.
• Does not speak single words by age sixteen months, or two-word phrases by age two years.
• No response to own name.
• Loss of language or social skills which had been present.
• Poor or no eye contact.
• No smiling or social responsiveness.
• Excessive lining up of toys or objects.
• Impaired ability to make friends with peers.
• Impaired ability to start or sustain a conversation with others.
• Impairment or absence of imaginative or social play.
• Repeats what others say without understanding the meaning, called echolalia (parroting or echoing).
• Restricted patterns of interest that are abnormal in intensity and focus, such as staring at the wheels on a toy car.
• Preoccupation with certain objects or subjects.
• Rigid adherence to specific routines and rituals.
• May have a good rote memory, especially for numbers, letters, songs, TV jingles or a specific topic.
• Doesn’t bring objects of interest to show a parent.
• Rocks, spins, sways, twirls fingers, walks on toes for a long time or flaps hands (stereotypic behaviour).
• Doesn’t seem to feel pain.
• May be very sensitive or not sensitive at all to smells, sounds, lights, textures and touch.

Children with behaviours of ASD may have additional associated medical conditions, such as Fragile X syndrome (which causes intellectual disability), other learning disabilities, epileptic seizures, Tourette syndrome and attention deficit disorder. About twenty to thirty percent of children with an ASD develop epilepsy by the time they become adults.

Causes of Autism

The theory that parental behaviours and methods are responsible for ASD was disproved years ago. The causes of ASD aren’t well understood. It’s probable that both genetics and environment contribute to the development of ASD. Several genes have been identified which are associated with the disorder. It has also been found that people with ASD have irregularities in several regions of the brain. Some studies have shown that neurotransmitters (chemicals which carry signals from nerve to nerve) within the brain are at abnormal levels e.g. serotonin. These abnormalities suggest that ASD could be the result of disruption of normal early fetal brain development, however there is no clear cut cause at present and the theories are varied, I do hope one day that science can give us a definitive answer.

Early Signs of ASD

One of the most important developmental differences between children with ASD and other children is a delay or lack of joint attention. Joint attention is looking back and forth between an object or an event and another person, connecting with that person. It’s a very basic element of later communication and social skills. Back and forth social interactions, such as exchanging facial expressions, sounds and gestures are called reciprocal social interactions. Delays in joint attention are found in most children with ASD but rarely in children with other types of developmental problems. Milestones in understanding language and using gestures occur at:

• 10-12 months of age: Most children with normal development will immediately look in the direction a parent points to visualise an object, look back at the parent and mimic the parent’s expression. Children with ASD usually ignore the parent, who may then worry about the child’s hearing.
• 12-14 months: Children are able to point to out-of-reach objects that they want. A child with ASD may take the parent’s hand, leading the parent to the object, without making eye contact.
• 14-16 months: Most children point at objects they find interesting, looking back and forth between the parent and the object until they are sure of the parent’s connection with them. A child with ASD will point to an object, wanting the parent to get it for them but without interest in connecting with the parent.

Almost all children with ASD show delays in both nonverbal and spoken language. They may have unusual words or become obsessed with certain letters and numbers. Children usually have a stage in which they repeat what they hear but children with ASD will repeat what they have heard for longer periods of time. They may repeat dialogue from movies or conversations in the tones in which they heard them or watch the same scene repeatedly.

About twenty-five percent of children with ASD will appear to have normal or near-normal development until eighteen months of age, then gradually or suddenly stop using words they’ve used before and become withdrawn.

Making the Diagnosis

Making the diagnosis of ASD can be complicated because there is no specific medical test. Diagnosis must be made using information from the parents and behaviour observed during developmental checkups.

As soon as ASD is suspected, a child should be referred for a full evaluation and intervention, if indicated. The evaluation can be done by a doctor or psychologist with expertise in the diagnosis of ASD. Evaluation by a team of specialists is preferred, with developmental pediatricians, child neurologists, psychologists, speech or language pathologists, occupational or physical therapists, educators and social workers. A typical evaluation includes:

• Careful observation of play and child-caregiver interactions.
• Detailed history and physical examination.
• Developmental assessment of all skills (motor, language, social, self-help, intellectual). ASD is suspected when language and social skills are significantly more impaired than is overall development.
• Hearing test should be done in all children with language delay.
• Language evaluation (expressive, receptive, social use and pronunciation).

Diagnosis of an ASD is made by applying the DSM-specified criteria to the information collected.

Medical tests may be useful in determining if ASD is associated with a known syndrome or medical condition. Newer, more sensitive tests, may be more useful than previously thought.

• Genetic tests should be offered. Currently, ten to twenty percent of children with ASD have abnormalities of their chromosomes. Genetic testing should be strongly considered if a child has unusual physical features, developmental delays, a family history of fragile X syndrome or intellectual disability. Fragile X syndrome may be present in up to two percent of boys with ASD; Rett syndrome should be considered in girls.
• Lead testing for elevated blood levels of lead should be performed when the child is in a high-risk environment, such as older buildings or puts things in his mouth. Some doctors recommend that all children should be tested for lead at age one year and thereafter as indicated.
• Other tests may be performed as indicated, such as a magnetic resonance imaging (MRI) scan of the brain, tests for metabolic disorders such as thyroid disease and for iron and/or vitamin deficiencies, especially vitamin D. An electroencephalogram (EEG) can evaluate for seizure activity in the brain.

Treatment

There is no cure for autism but there are treatments, even for children with the most severe autism. Within the medical literature you can find dozens and dozens of techniques which have been used to treat autism. The most effective treatments are listed here.

Applied Behavioural Analysis. It is, by far, the best researched and understood mode of therapy for ASD. It’s also the most effective. We used this therapy for Richard with great success. Breaking down a task to its most simple form, the therapist will ask the child for a particular behaviour or task and using a very concentrated form of positive reinforcement, if the child performs the requested task, he or she is rewarded. Often the reward is a lolly or candy or something meaningful to the child. The child only receives the reward if he or she complies with the request. If not, the request is repeated until there is success. The learned skill is then generalised so that the child can use this skill outside the therapy room and in everyday life without use of the reward. Notes and data are collected the entire time to assist with continuity so that a team of therapists, including the parents, can all work towards achieving the stipulated goals. The behaviours taught are tailored to according to each child’s needs and abilities. ABA is highly individualised and can be used effectively to help children no matter where they are on the spectrum. The focus can be on speech, imaginative play, social skills, academics and personal hygiene such as toilet training. The very youngest children, less than three years of age, receive a modified form of ABA that involves more play.

ABA is also known as “Lovass” therapy. In 1987, Dr. Ivor Lovass, a psychologist at the University of California-Los Angeles, developed the method. He believed that social and behavioural skills could be taught, even to children with profound autism.

ABA can be problematic. It’s very expensive and can be very intense, up to forty hours per week with a therapist, with parents using the method in addition to work done with a therapist. Ideally, the training takes place throughout all the child’s waking hours. Research shows that twenty hours per week of ABA can still be beneficial but with ten hours per week or less, the therapy will have little effect. The therapist should have behavioural analyst certification and should construct an individual education plan. Using this method, the therapist may be able to teach the child to function so well that it may be possible to catch up to peers.

Speech Therapy. Virtually all people with autism have problems with speech and language. Some people with autism don’t speak at all. Speech therapy is likely to be helpful for anyone with autism.

Occupational Therapy. Occupational therapy emphasises daily living skills, especially helpful for people with autism who have difficulty with fine motor skills. An occupational therapist may also be skilled in sensory integration therapy, which is used for people with autism who are hypersensitive to sound, light and touch. The child learns how to manage the stimulation.

Social Skills Therapy. Many children with autism have difficulty interacting with people. Social skills therapy can help them learn to have a conversation, make friends and interact with peers.

Physical Therapy. Many people with autism have gross motor delays and some have poor muscle tone. Physical therapy can help build strength and coordination.

Play Therapy. Children with autism need help learning how to play. This type of therapy also helps build speech, community and social skills. There are particular techniques such as Floortime or The Play Project, used by some therapists.

Behaviour Therapy. Children with autism are often frustrated. They have difficulty communicating their needs and are often hypersensitive to sounds, light and touch. Behaviour therapists are trained to figure out the reason behind negative behaviour and recommend changes to the environment.

Visually Based Therapy. This may be especially helpful with children who are visual thinkers. Some visual therapies use picture-based systems. Video-modeling, video games and electronic communication systems are also useful for teaching communication skills.

It can be very helpful for children with autism to communicate ideas with the use of picture cards. Whether cut from magazines, printed from a computer or purchased as a set, the pictorial cards can help nonverbal children to express their needs and ideas. Images are a form of communication which can be understood by everyone. Claims made by the originator of the card system, Picture Exchange Communication System (PECS) include: decreased negative behaviours that were caused by frustration; increased availability for learning and interaction; increased relatedness and emotional closeness and building spoken language skills.

The name-brand PECS can be expensive and training someone to use the system can cost hundreds of dollars and even more for ongoing communication with the company. Using a picture system can cost almost nothing by making cards with images cut from magazines. Also, visual daily planners and organisers can be very helpful to children with autism, both at home and in the classroom. The whole day’s schedule is there for them to see in advance so they know what to expect.

There are now iPad apps for children with ASD, which catches their attention with bright colours and sounds. There are also video games designed to appeal to children on the spectrum.

Tips for Everyday Living

Some techniques and suggestions for everyday living include:

• Communication: Speak less, using simple words that are heard often in day-to-day living. Express one idea at a time, in the order in which they will happen. Separate ideas with pauses. Use positive statements such as, “Close the door,” to tell the child what to do, rather than negative statements such as, “Don’t leave the door open,” which tells children what not to do. Use statements rather than questions. For example, “Get a book for a story,” rather than, “Do you want a book for a story?”
• Attention/following instructions: Approach the child from the front. Get down to his level for direct eye contact. Model the behaviour you want to see and give one instruction at a time. Reward him with positive words.
• Sensory processing: Think about the environment and what could cause strong reactions. Provide a quiet space.

Even the idea of teaching your child to function independently can feel overwhelming. As knowledge about autism grows, more and more effective treatments are being developed.

One of the greatest resources parents have is each other. Find support within a community of other parents and children. Peer support and interacting with other parents are excellent ways of learning about new developments and you will not feel so alone on your journey. Celebrate your and your child’s triumphs with other parents, too. Together, you can even find joy.