Autism, autism spectrum disorders: causes, diagnosis and treatment

Autism manifests itself in the first years of life. Parents may notice the child’s difficulties in communicating and his repetitive and mechanical behaviour

Autism spectrum disorders are a combination of various neurodevelopmental changes linked to abnormal brain maturation that begins in the foetus, long before the child is born.

The disorder varies greatly from case to case, but is generally characterised by impaired communication and social interaction, and restricted and repetitive interests and behaviours.

In the past, autism spectrum disorders have been variously named because of the great variability from child to child:

  • Different subtypes referred to in the past, for example, as ‘autistic disorder’;
  • Asperger’s syndrome;
  • The generalised/pervasive developmental disorder not otherwise specified;
  • High-functioning autistic disorder.

Today it is estimated that at least one in 100 children has an autism spectrum disorder.


What are the causes of autism?

To date we do not know the exact causes that lead to autism, although research has made very significant progress.

For example, we know of many genetic alterations that are linked to autism spectrum disorders.

It is likely that these genes can interact with each other and with the environment to cause autism.

There is now ample evidence that the causes of autism spectrum disorders are neither educational errors nor family conflicts.

Autistic children are born with this disorder and parents are not responsible for it.

When and how does autism manifest itself?

Social and communicative development begins at a very early age.

From the earliest stages of development, children are actively engaged in interacting with their environment.

Signs of a correct social-relational development can be:

The first smiles;

  • The first intentional gestures (including the gesture of pointing, which appears between the first and second year of life).
  • The development of intentional gestures accompanies and often precedes that of language.

The first words normally begin to emerge around the first year of life and the first word combinations appear around 18 months.

Autism spectrum disorders usually appear in the first years of a child’s life.

Parents are generally the first to realise their child’s difficulties as early as 18 months.

In very mild cases this can happen even after 24 months.

In some children, parents report apparently adequate development up to 18 months, followed by a halt and regression of already acquired skills.

The first alarm bells usually are:

  • Communication and socialisation problems. Children with autism spectrum disorders manifest first of all difficulties in non-verbal communication: they do not look into the eyes and avoid looking at each other, they seem to ignore mum and dad’s facial expressions and do not seem able to use facial expressions and gestures to communicate, they have little interest in others and their activities, little interest in other children, etc.;
  • Presence of stereotyped behaviours such as excessive interest in certain objects or parts of objects, excessive attachment to routine behaviours, the presence of always the same and repeated hand and body gestures.

How is autism diagnosed?

The diagnosis is “clinical”, i.e. based solely on observation of the child.

There are no laboratory or imaging tests (computed tomography, magnetic resonance imaging, etc.) that can confirm the diagnosis.

It is therefore advisable to rely on specialised healthcare facilities and a multidisciplinary team, consisting of a child neuropsychiatrist, psychologist and speech therapist.

The team will be adequately prepared for a global clinical evaluation of the child.

Specific useful tests are carried out to help doctors in their search for a diagnosis:

  • The ADOS-2 (Autism Diagnostic Observation Shedule-2nd Edition);
  • The ADI-R (Autism Diagnostic Interview-Revised).

The first test is based on observation of play while the second test is an interview collected from parents to investigate the presence of symptoms of the autism spectrum.

In the diagnostic phase, it is essential to investigate, in addition to the symptoms related to autism, the child’s cognitive functioning, adaptive behaviour and language skills.

How is the test carried out?

Meetings with the child are aimed at assessing the presence of typical symptoms of an autism spectrum disorder as well as the child’s cognitive, adaptive and language skills and the possible presence of associated mental illnesses.

Meetings with parents gather information on the child’s behaviour and reconstruct the early stages of life and growth.

This defines the period of acquisition of the stages of psychomotor, linguistic and social development.

Treating autism:

Once the diagnosis has been defined, it is necessary to design an effective rehabilitation intervention.

The developmental stage and diversity of each child with autism spectrum disorder must always be considered when choosing therapy.

In 2011, the Istituto Superiore di Sanità (ISS) issued a Guideline for the Treatment of Autism Spectrum Disorders in Children and Adolescents.

The most effective treatments are:

  • Structured psychological and behavioural programmes (Applied Behavioral Analysis – ABA, Early Intensive Behavioural Intervention – EIBI, Early Start Denver Model – ESDM) aimed at modifying the child’s behaviour to promote better adaptation to daily life;
  • Parent-mediated interventions: parents are guided by professionals to learn and apply in everyday life the most appropriate communication methods to foster their child’s development and communication skills.

We can define an intervention as appropriate when:

  • It is early (within 2-3 years);
  • It is intensive (20/25 hours per week of learning opportunities in which the child is actively involved in planned psycho-educational activities adapted to his or her level of development, distributed in the different contexts of life: therapeutic centre, family and school);
  • It provides for the active involvement of the family and the school;
  • It is characterised by constant measurement of progress.

What is the most appropriate behaviour to adopt?

Given the specific nature of the symptoms presented by children with autism spectrum disorder, it is useful to adopt interaction strategies that are adapted as far as possible to their interaction and communication difficulties.

When interacting with your child, it is useful to bear in mind certain precautions:

  • Maintain a posture that encourages eye contact and face-to-face interaction;
  • Follow the child’s interest to try to involve him in shared activities;
  • Speak in simple language, suited to the child’s language skills.

For parents, it may be useful, especially in the early stages after diagnosis, to undertake parental training or parent-mediated therapy to encourage correct interaction with the child.

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