I- Early diagnosis
An international consensus defines autism as a disorder of neurobiological development. However, there is actually no reliable biomarker. To diagnose autism, it is therefore necessary to rely on behavioural signs that appear with development. For example, it is possible to rely on the appearance of undetectable language-specific disorders with the introduction of language.
Autism is a very heterogeneous disorder with different etiologies, and no test really allows an early diagnosis.
1. Age of diagnosis
Currently, signs of autism are most commonly detected between 2 and 3 years old in expert centers. Most often, the diagnosis is later and is around 3 or 4 years.
Families with a first child with autism are more likely to have a second child with autism. Moreover, if the child is born premature, he is more likely to develop an autistic disorder.
Experienced clinicians can approximately identify signs at 12 months (Volkmar and al., 1994; Rogers & Di Lalla, 1990; Fombonne, 1995). However, it is important to note that at 12 months, we talk about suspicion and developmental disorders, not autism.
2. Ozonoff and al.’s study (2010)
Researchers observed 25 children at risk and 25 normal children at 6, 12, 18, 24 and 36 months. They looked at behaviours indicative of the presence of a developmental disorder and they coded them from video recordings: The frequency of the gaze, the social smiles, the socially oriented vocalizations… The videos were blindly quoted, that means the experimenters who rated the videos didn’t know if the children were in the control or risk group.
The results showed that at 6 months, the two groups were comparable, there was no anomaly in behaviours. However, a decline was noticeable in the at-risk group between 6 and 12 months with an emergence of abnormalities in social behaviours. At 12 months, significant differences were present between the two groups.
This study confirms that there are changes between 6 and 12 months, and that with means, the diagnosis could be earlier.
3. Early biomarkers
Many studies try to see if there are any abnormalities in development before 12 months.
Different results have been obtained (Rogé, 2015). First, an enlargement of the cortex on certain brain areas has been identified. Indeed, the brain mass is greater in children with autism (in a majority subgroup) because of a lack of synaptic pruning during development (lack of brain specialization). In addition, an excess of cerebrospinal fluid was found in the subarachnoid space. Autistic children also had white matter anomalies, defects in functional connectivity (communication between different brain areas that make complex behaviours more appropriate), and abnormalities in visual perception and motor skills. Finally, anomalies of visual orientation were visible in children with autism: They didn’t look into the eyes and an uncontrolled exploration of the face could be observed through an eye tracker (mouth, skin defect, jewellery…).
Guillon and al. (2014) showed that ordinary people had an exploratory bias on the left when they explored a face, that is to say that the first visual saccade was directed to the left. However, this visual bias was less common in children with autism (and in young children between 12 and 24 months).
But, it is necessary to qualify these results: None of these signs can be used to make a reliable diagnosis. At 12 months, we must rely more on behavioural, social and language deficits. At 24 months, a trusted diagnosis will normally be feasible.
4. Why is the diagnosis often delayed?
In general, the parents are at the origin of the complaint. They come to consult specialists, who will then be interested in the anxiety of these parents. As previously explained, a diagnosis could be made between 12 and 24 months by experts. However, it is often done later. Why?
First of all, this late diagnosis can be explained by the lack of experience of the parents. Interpretations can be different between parents with multiple children and parents with only one child. Indeed, when the child has older brothers, parents can have a point of comparison and detect behavioural anomalies more quickly.
Secondly, at the professional level, the lack of training and familiarization with the first manifestations of autism can lead to a normalization of symptoms. Similarly, some professionals aren’t very supportive of early diagnosis and consider that it can stigmatize parents.
5. Warning signs (recommendations)
Early signs of autism:
Scientists have focused on the warning signs rather than signs of autism. The signs sought in young children will be different from those sought in older children. In fact, these are the warning signs that the experts try to detect, that means, the premises of the signs that will be installed later.
Before 2 years, among the early signs, we can find: Passivity, a lack of responsiveness, difficulties of joint attention, a delay of language, a lack of pointing, an absence of object designation, and an absence of pretend play. it is not mandatory that all these signs are present, some are more relevant than others.
In fact, whatever the age, an alert must be issued when there is:
- A regression in the relational development or the language.
- An anxiety of the parents for the relational development or the language.
- A history of ASD in the siblings.
Red flag:
Some signs, when they are present, should lead to further evaluation to confirm a diagnosis:
- An absence of babbling, pointing or other social gestures at 12 years.
- An absence of words at 18 months.
- An absence of word associations at 24 months.
3. The issues of early diagnosis
As a first step, early diagnosis would allow the immediate implementation of measures to support child development.
In a second step, the early diagnosis would make it possible to bring quickly support to the family of the child.
II- Types of early intervention
Interventions based on a developmental approach allow to have a good knowledge of the development of an ordinary child. Moreover, it is necessary to do simultaneously a work on psychomotor, cognitive and social skills.
Interventions will also try to reduce problematic behaviours thanks to two approaches.
- Indirect approaches rely on the development of competing skills. For example, the child with autism has behavioural problems related to a lack of language, causing him frustration. The researchers have shown that his behavioural problems decreased when this child made progress in language.
- Direct approaches correspond to behaviour modification techniques.
1. What are the effects of early intervention?
Several effects of early intervention can be observed:
- An acceleration of the pace of development for a stagnant child.
- A substantial gain of the IQ.
- A significant progress of the language.
- An improvement of social behaviours.
These benefits are obtained after one or two years of early and intensive intervention. In total, 73% of children reach a functional level of language around 5 years old. Finally, the gains are maintained even after the intervention.
2. Criteria of effectiveness
Precocity: When stimulation occurs between 2 and 4 years old, the effect obtained is significantly greater compared to a late intervention.
Intensity: The specific work must be done for at least 15 hours (and more) per week, with a very personalized supervision, and for a period of 1 to 2 years (or more).
Specificity: Early ad intensive stimulation has more impact on the development of children with autism than on children with other neurodevelopmental deficits. There is therefore probably a specific plasticity to autism in the early period of development. The beneficial effect of stimulation is strongly related to the adaptation of the adult to the peculiarities of autism and the individualization of procedures.
Choice of work targets: The targets must be precise with clear objectives (language, motor skills, autonomy…). A work on pivotal behaviours can be done. These behaviours correspond to elements sufficiently general to be in involved in several sectors of activity (imitation, attention to the social partner, ability to respond to various stimuli…). Thus, if these behaviours are worked in the context of an activity, profits will be obtained in other situations.
Effect of context: Incident learning, carried out in the natural environment, is more effective. It requires more spontaneity and motivation of the child. It reinforces the functional aspect of behaviours that are directly related to the constraints of everyday life.
Involvement of parents: The appeal to the parents who receive appropriate training can prolong the stimulation in the various environments frequented by the child. It also helps to develop a learning environment that is more likely to be truly functional. In fact, parents are trained, not to substitute for professionals, but to adapt their behaviour in order to obtain a better participation of the child and better learnings.
3. Interest of early intervention
Early intervention reduces the invasive effects of autism.
To intervene early is:
- Correct (at least partially) the development and give a more solid foundation to subsequent learning.
- Pave the way of social communication and support children to language.
- Contribute to the improvement of the life quality of the child and his family, now and in the future.
- Moderate care costs because children will be more autonomous and will need less cumbersome interventions.
4. Limitations of early intervention
Not all children have the same evolution and some children are significantly affected. Despite the possible correction of certain behaviours, the autistic style persists most often. However, specific measures of education remain useful in the early period of development to accompany the child in his progression and give him all the tools of communication and social adaptation.
III- Conclusion
The challenges of early intervention in autism are therefore numerous and affect simultaneously family, social and personal environment. The benefits are however present, so, it is important to implement techniques to help as early as possible the autistic child and to support his family. In fact, we are talking here about improving the quality of life of these children.
Words I have learned:
- Frequency of the gaze = La fréquence du regard.
- Signs sought = Les signes recherchés.
- Pretend play = Le jeu du « faire semblant ».
- Implementation = La mise en œuvre.
- Pave the way = Ouvrir la voie.