Autism

Depending on the severity of the symptoms and the level of assistance required by the person, three different levels of intensity have been described (Level 1: requires help, Level 2: requires significant help, Level 3: requires large amount of help). It is important to determine whether the person also has an intellectual disability or language difficulties, if they are linked to a known medical or genetic pathology or environmental factor, if they are associated with another mental or behavioural neurological development condition, and if they are associated with autistic catatonia.

Genetics plays a fundamental role in the aetiology of autism spectrum disorders, together with pre-labour and neo-natal risk factors.

Symptoms

The common symptoms of all autistic spectrum disorders are:

Issues with socio-emotional reciprocity, non-verbal communication, and the development, maintenance and understanding of social relationships. And then, at least two of the following:

a) stereotyped or repetitive movements, use of objects, or speech.

b) cognitive rigidity

c) restricted interests and

d) hyper- or hypo-reactivity to sensorial stimulus or an unusual interest in the sensorial aspects of their surroundings

Who is affected?

Autism spectrum disorders can be observed in people from around the world from all types of racial, ethnic and socio-economic groups. This disorder occurs 4 times more frequently in boys than in girls.

Diagnosis

Diagnosis is based on observation by a child psychiatrist and paediatric neurologist.

An evaluation by a multidisciplinary team is also recommended. It is necessary to include an evaluation of the individual, an interview with his or her carers or other informants, information from the school or workplace, and to perform a cognitive and linguistic evaluation. Furthermore, a medical examination (blood and genetic tests and CAT scan) should be carried out in cases where a specific aetiology is suspected. Genetic tests can detect an aetiological cause in up to approximately 10% of cases.

Typical treatment

At this stage, there is not enough scientific evidence to routinely recommend a specific pharmaceutical drug to address the symptoms of ASD. However, there are effective pharmaceutical drugs to treat the medical or psychiatric comorbidities that commonly occur with these disorders.

It is important to begin psychotherapeutic treatment as soon as possible, as well as to adopt educational strategies in the classroom in line with the seriousness of the psychiatric disorder.

Early detection, psychotherapeutic treatment and various educational approaches substantially improve the learning and social behaviour of the person affected, helping them to have an everyday quality of life with a certain degree of autonomy and independence.

Research into the brain’s structure and connectivity in parallel with genetic studies is paving the way towards being about to think more about effective treatments for this disorder. In fact, there are currently various clinical trials under way whose therapeutic target is the basic symptoms of ASD.

Typical tests

There is a series of clinical trials that can help rule out other associated presentations or a specific aetiology such as electroencephalography and CAT scans, as well as analytic tests to rule out metabolic illnesses. A genetic test is required if there are suspicions of a specific genetic alteration.

Prevention

Visits to the paediatrician to monitor the evolution of a healthy child are fundamental for early detection.