Generality
Autism is a neuropsychic developmental disorder, which manifests itself with some specific behavioral, cognitive and sensory characteristics. This pathological state becomes evident from the age of three and, in most cases, the problems it entails persist throughout the lifespan.
Autism represents one of the most complex and difficult to manage syndromes in the developmental age: the presentation pictures of the disorder are characterized by a notable polymorphism, however some symptoms are always present, albeit with different intensity.
In particular, people with autism generally exhibit unusual behaviors and severe problems with communication (verbal and otherwise), in social interactions and in "adapting to" the environment. Autistic subjects can also have intellectual disabilities (more or less severe) and learning disabilities.
Although there is no specific cure for autism, it is important to diagnose it as early as possible, to intervene with educational-behavioral therapies that help the patient to maintain contact with society and to acquire a certain degree of autonomy.
Causes
To date, the cause of autism has not yet been identified with certainty, but the idea is shared that the basis of the disorder may be multifactorial.
Only in about 10-15% of cases, the disorder is associated with known (and rather rare) genetic diseases: autism is found, for example, in the context of the fragile X chromosome syndrome, tuberous sclerosis and the syndrome by Rett.
The exact etiology remains unknown in most cases, although strong scientific evidence supports the synergistic action of a neurological substrate, a genetic component and various environmental factors. Furthermore, considering the heterogeneity of the manifestations of this disorder, it is plausible that different symptomatic expressions may correspond to different biological bases.
Most of the alterations found so far interfere with the correct construction of connections between brain cells (particularly in the architecture of some areas of the cortex). Some children with autism have enlarged cerebral ventricles, others have hypoplasia of the cerebellar worm (central portion cerebellum involved in the coordination of movements) or alterations of the nuclei of the brainstem.
Furthermore, research on families with multiple cases of autism has suggested the existence of different potential target genes, including those that encode neurotransmitter receptors (such as gamma-aminobutyric acid) and complexes essential for the structural development of the system. central nervous system (HOX genes).
These alterations would occur early (during gestation or within the first three years of life) and would compromise normal brain and mental functioning.
Other hypothetical risk factors that are being evaluated from a scientific point of view are the lack of some vitamins or prenatal exposure to environmental toxicants (such as mercury poisoning) and teratogenic drugs (such as thalidomide or valproic acid).
The various conditions that can contribute to the onset of autism also include:
- Previous family episodes of autism or other pervasive developmental disorders;
- Infectious diseases contracted by the mother during pregnancy (such as rubella and cytomegalovirus infection);
- Advanced age of the parents at the time of conception;
- Preterm birth of the baby and significantly lower body weight than normal.
Do Vaccines Cause Autism?
In the past, it has been suggested that the trivalent measles, mumps and rubella (MMR) vaccine was related to the onset of autism. This false alarm was created by an article published in 1998 by The Lancet by an English doctor, who falsified some data relating to the appearance of autism in some children already hospitalized for neurological disorders and vaccinated against measles.
After the investigation of the British General Medical Council, the fraudulent conduct of the author was ascertained, who was disbarred from the Order of Doctors for his behavior.
The article was formally withdrawn from the journal in 2010, and the hypothesis raised by the study was further investigated and rejected by numerous other research. Therefore, a possible causal relationship between autism and any type of vaccine has never been scientifically demonstrated.
- Autism most likely originates during the development of the baby's nervous system in the womb, but the disorder only manifests itself around 2-3 years of age, just when several vaccinations are given. This may suggest that there may be a nexus, but the numerous scientific evidences available on the subject have shown that this hypothesis does not exist.
Epidemiology
Autism does not seem to present geographic and / or ethnic prevalence, as it has been described throughout the world and in every social environment.
Autistic disorder, on the other hand, affects males to a greater extent than females (ratio 1F: 3-4 M).
Symptoms
For further information: Autism Symptoms
Autism is a chronic condition that manifests itself since childhood, presenting itself primarily as the child's inability to maintain a correct emotional relationship with his mother.
Symptoms vary from person to person and can have very different levels of severity: in some forms they have a negligible impact, in others they are decidedly disabling.
In general, children with autism:
- They tend to isolate themselves, have difficulty in playing, keep aloof and have a poor ability to interact with other people (both adults and peers) from an emotional point of view.
- They perform unusual and repetitive gestures; they have a strong resistance to change in daily routine and any changes in specific habits or rituals can trigger reactions of anger and aggression towards themselves or others.
- They may engage in stereotypical or obsessive movements for a long time: for example, they rock back and forth, use toys in an unconventional way, clap their hands, etc. They behave in a way that is inappropriate for their age and their mental development.
- They do not respond if called by name, they avoid eye contact, they close themselves in an inner world and their repertoire of activities and interests is markedly restricted.
- They have a delay in the development of spoken language, which can be repetitive and not useful for communication, or completely absent and not accompanied by an attempt at compensation through alternative methods of communication, such as gestures or facial expressions; they show no imagination and have limited abstraction in play.
During the developmental age, autistic subjects generally have a loss of contact with external reality and appear completely unaware of both their own feelings and the negative impact of their behavior on other people. These social disturbances inevitably lead to the development of deficits in understanding, attention and response to sensory stimuli.
Regarding the difficulties in the ability to communicate, autistic subjects with adequate language are unable to initiate or sustain a conversation with others, formulate sentences in a strange way and use words repetitively (echolalia) or out of context; the use and understanding of verbal expressions is very literal (they do not understand metaphors or jokes).
In addition, these people show marked impairment in the use of various non-verbal behaviors that regulate social interaction, such as direct gaze, facial expressions, body posture and gestures. In some cases, impaired motor coordination and anxiety disorders may also be associated with autistic disorder.
Comorbidities
In some cases, autism can occur in association with other neurodevelopmental disorders, such as ADHD (attention deficit hyperactivity disorder), epilepsy and Tourette's syndrome.
Diagnosis
The diagnosis of autism is carried out on the basis of the clinical observation of the subject by a group of specialists of different professions: child neuropsychiatrists, pediatricians, family doctors, educators, pedagogues, speech therapists and psychomotor therapists.
During the visit, the specialist generally asks the parents a series of questions about the child's behavior (for example: if he likes to be rocked or made to jump on his knees, if he interacts with his peers, if he occasionally uses his finger to point or show interest in something).
In suspicious cases, the patient is subjected to tests that consist of simulation games of certain situations to observe his reactions.
The evaluation is guided by the criteria indicated in the two main reference manuals: DSM (Diagnostic statistical manual of mental disorders) and ICD (International Classification of Diseases) written respectively by the American Psychiatric Association and the World Health Organization.
The diagnostic process can also include the use of standardized scales, such as the "ADOS (Autism Diagnostic Observation Schedule) and the" ADI-R (Autism Diagnostic Interview-Revised), useful for highlighting any symptoms of this disease during the stages fundamentals of growth.
Once the diagnosis has been made, the management of autism must include the planning of specialized check-ups at regular intervals during the developmental age.
