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Autism: a general view

Autism affects 1 child in 88. It is a complex and muti-factorial disease with a high genetic component. Today, diagnosis is made by studying a child’s behaviour. In the absence of biomarkers, the average age for confirmed diagnosis is 4-5 years.

Early diagnosis would allow care to be dispensed much earlier with the corresponding hope of better results.

Autism is one of the most frequent childhood pathologies, more frequent in boys than in girls and is difficult to treat.

20 years ago, autism was an infrequent and little known pathology but its prevalence in children is now increasing at an alarming rate: It is currently estimated at 6.7 per 1,000 (1 in 150)* and therefore constitutes a priority cause for public health.

The “sex ratio” now nearly 5 boys to 1 girl. 

The high genetic component of autism is established, among other multi-factorial causes.

The average risk of recurrence in siblings is approximately 10% in families that already have a child diagnosed with autism.

Identification of the genes responsible currently remains a major research direction with the objective of developing sound understanding of the underlying pathophysiological mechanisms.

Research has identified a number of genetic causes likely to lead to cases of autism but none of them on their own can explain more than a few cases per thousand or ten thousand.

Diagnosis of autism remains clinical and is confined to trained professionals.

Today, autism is diagnosed clinically by means of a combination of behavioural factors:

• Anomalies in verbal and non-verbal communication and social interaction.
• Existence of repetitive, stereotyped behaviour that may lead to light to severe handicap.

In most cases, diagnosis can be established from the age of 2 onwards. It is based on a body of clinical arguments and is associated with an evaluation of disorders and capacities and a search for associated diseases.

In practise, although diagnosis is possible as from the age of two, final diagnosis is rarely confirmed before the age of four.

It is therefore essential to improve early-detection methods for autism to make it possible to intervene much earlier.

Medical consensus insists on the importance of early intervention, which alone is capable of having a significant impact on the child’s development.

Early identification of autism is essential because it allows rapid intervention, an extensive etiologic investigation and analysis of the risk of recurrence.

Any tool or biomarker that contributes to establishing an early diagnosis therefore helps to improve prognosis.

*Source: Centers for Disease Control, 2009