Autism is a complex developmental disorder traditionally defined by a core triad of impairments, relating to communication, socialisation and behaviour. Children who are affected have communication and socialization difficulties, as well as restricted and repetitive interests and behaviours. It is important to note that all children with autism also have sensory dysfunction.
- Autistic disorder
- Asperger syndrome
- Pervasive developmental disorders (PDD)
- Unspecified, but collectively referred to as Autism Spectrum Disorders (ASDs)
Autism is a behaviourally defined developmental disorder which appears to be caused in early development by the impact of the environment on a genetic predisposition. Autism is treatable, and early medical/biomedical and behavioural/therapeutic intervention greatly improves the outcomes of children with ASDs. Usually diagnosed before the age of three, a pattern of initial seemingly normal development, followed by a regression or loss of skills around 18 months, is common.
Very few children with autism have a history of autism in their families. A widely accepted hypothesis is that there is no one particular cause for autism, but rather a genetic predisposition to many things, including depression, alcoholism, OCD, etc. These genes interact with the environment, which may include metals, viruses, antibiotics, toxins and other factors, which result in insult or injury to the gut/brain axis.
The prevalence of autism is currently one in 86 children. Typically it affects more boys than girls and knows no socio-economic or ethnic boundaries. Twin studies show a concordance of more than 80% in identical twins and a rate of 38% in fraternal twins, similar to that of normal siblings.
At present there is no laboratory test that can detect the presence of autism. It is essentially a diagnosis made through clinical observation by trained professionals, unlike most of the following co-existing disorders.
Autistic Spectrum disorder can co-exist with other well-known disorders such as:
Congenital rubella syndrome: an infectious disease acquired from the mother during pregnancy
Neurofibromatosis: a condition in which there are tumours of the nervous tissue
Tuberous sclerosis: an inherited disease of the nervous system and skin
Fragile X syndrome: an abnormality of the X-chromosome that can cause mental deficiency
Phenylketonuria (PKU): an inherited metabolic disorder
ASD can however exist with any disorder. Common eo-morbidity also includes:
Obsessive Compulsive Disorder and Attention Deficit Disorder
Childhood Disintegrative Disorder: where autistic symptoms develop after the age of three
Rett’s Disorder: presents primarily in girls, can be detected by a blood test and is characterized by a deceleration in head growth and loss of purposeful hand skills and mobility. (The girls however almost always prefer people to objects.)
Checklist for early warning signs of ASD in young children
Early diagnosis and identification of a child at risk is of the utmost importance. To do this, we need to evaluate the emotional and social coordination/regulation in a young child, along with regular developmental assessments done by a paediatrician. In a very young child we need to be aware of behaviours that are NOT present.
- Does the child respond consistently to the calling of his/her name? Call the child by name, without giving any instruction, while he/she is engaged in an activity. Do this twice during the consultation to determine consistency. A response would be indicated if the child looks towards the caller. Note: the calling must be done by a stranger, and not a parent, to ensure that the response is to his/her name and not to the recognition of a familiar voice.
- Does the child show shared attention and read gestures? Point to an object across the room, and observe whether the child follows your gesture, e.g. point to a toy while saying, “Look at that [toy] on the bookshelf.” Ask the child to point to something other than an object they may find desirable, e.g. “Show me your nose”, or “Where’s the light?” The child should be able to do both.
- Does the child show expectation/anticipation during brief pauses in play? Play a peek-a-boo-type game with the child (e.g. hide your face, reappear unexpectedly and then repeat this action). The child should show facial signs of anticipation.
- Does the child reference the parent’s face for reassurance? Pick the child up during the consultation and observe his/her reaction. The child should look at the parent for help/reassurance.
- Does the child exhibit basic imitation skills? Say, “try this” and then perform a basic action, such as clapping your hands or putting your hands on your head. The child should attempt to copy your actions immediately.
- Can the child answer social questions? Ask the
child social questions such as “What is your name?” or “How old are you?”
The response should not be reliant on verbal ability, but can include a
show of fingers or a partial verbal response. If the child is unable to
give a positive response to at least five of these questions, further
investigation by a professional trained to diagnose ASD, such as a
psychologist or psychiatrist, is necessary. Averted gaze, absence of a
social smile, resistance to social engagement, sensory problems (which may
be indicated by fussy eating, sensitivity to noise, arching of the body
and difficulties with potty training), and language delays are further
indications of an increased risk of ASD.
In an older child we become increasingly aware of symptoms, and soon we are able to observe which behaviours ARE present!
Symptoms are varied amongst children and may include:
- Seeming lack of attachment to parents or other family members. The child seems to prefer to play alone and has an aloof manner.
- Demonstrates inappropriate social interaction or withdrawal and fails to form normal relationships.
- Apparent lack of awareness of, or indifference to other people’s feelings
- Lack of awareness of boundaries, and often lack of response to being reprimanded (over time)
Language and Communication
- A young child with autism may appear to be deaf and parents often have the child’s hearing tested.
- The child often skips the babbling stage, and starts to speak later than other children of the same age, or doesn’t develop speech at all. A young child will pull one by the hand to get a desired object, instead of using verbal communication.
- The child has no use or understanding of non-verbal communication and gestures, e.g. does not wave ‘bye bye’.
- The child often uses repetitive sounds, and if speech develops, it might be immature or unusual like combining single words into a giant word like “areyouhungry”.
- He/she could lose a previously existing ability to utter words or sentences.
- The child’s rate, pitch, tone or rhythm of speech is abnormal; he/she may use a sing-song or monotonous voice.
- He/she finds it difficult to initiate or maintain a conversation.
- He/she can't understand or imitate speech or gestures.
- He/she responds inappropriately to sounds (covers ears).
- There may be meaningless repetition of words or phrases. The child may echo what someone says, or often scripts from a TV programme, or someone else’s speech (echolalia).
- In a verbal child there might be pronoun reversal.
- The child could present with apraxia (inability to plan words – absence of speech).
- Performs bizarre or repetitive movements such as rocking, hand twisting, finger twiddling, head banging, arm flapping, walking on tip-toe, staring.
- Develops specific compulsive routines or rituals.
- Becomes distressed or enraged by minor changes in the environment or in disruption of routines or rituals.
- Engages in self-destructive behaviour, such as head-banging or biting.
- Hyperactivity or lethargy
- Preoccupation with or attachment to objects or one object; may become fascinated by unusual objects or parts of an object, such as the spinning wheels of a toy car.
- Screaming fits
- Unable to engage in fantasy or imaginative play such as role-playing and storytelling
- Resists being held and cuddled; may scream to be put down; may have to be HELD on the hip (back arching off slightly). Over or under-reaction to sensory stimuli.
- He/she might respond inappropriately in situations, e.g. laugh when scolded or hurt.
- Over or under-reaction to sensory stimuli, including avoidance of certain foods, dislike of haircuts or nail cutting, high pain threshold, eat normally non edible substances, etc.
Other commonly noted symptoms:
- Inappropriate laughter (often at night)
- Night time waking
- Slurred articulation
- Unstable gait
- Low muscle tone
- Fixed or averted gaze
- Dilated pupils
It is interesting to note the following things many of these children have in common:
- A love for vehicular toys
- Removing DVD covers from DVD boxes
- Running off in one direction on the beach
- A dislike of shopping centres and the need to be “trolley bound”
- Rewinding favourite parts of their favourite movies for hours and preferring the credits to the actual movie (often resisting a new movie)
- No delay in motor milestones. They are generally quite agile.
- A “very good memory”
Autism is treatable by means of a synergistic or multi-disciplinary, child specific approach.
Autism specific therapies might include Applied Behaviour Analysis, Relationship Development Intervention, Floortime (DIR), TEACCH, Son-Rise and others. It is of the utmost importance that a child-specific approach is used and child-specific deficits addressed.
A rehabilitation programme will usually include:
- Occupational Therapy (sensory integration)
- Speech Therapy
Other: Auditory Integration Training, Listening Programmes, Primal Reflex Therapy, HANDLE therapy, Braingym, etc.