Autism: causes, symptoms, and treatments of a neurodevelopmental disorder

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Autism Spectrum Disorder (ASD), more simply called autism, represent a heterogeneous condition and can manifest differently between people and at different stages of everyone’s life. The word spectrum is used precisely to indicate the variety through which this disorder manifests itself and the relative variability in terms of severity.

What is Autism?
Autism concerns the sphere of neurodevelopment involving language, sociality, and communication. The disorder is characterized by restricted interests and repetitive behaviors. At least 78 million people worldwide live on the spectrum. The majority fail to access appropriate care (health care, education, and social assistance) based on personalized assessments and evidence. For this reason, living on the spectrum is a complex condition for both sufferers and family members. Everyone, therefore, needs multimodal interventions.

What was the first diagnosis of autism?
The first person diagnosed with autism was Donald Triplett, the son of a well-known and respected American family. After several years of research by several doctors, Donald’s diagnosis of autism was made by Dr. Kanner, a top child psychiatrist at Johns Hopkins University. Also based on some notes that Donald’s father had written observing his son’s behavioral characteristics, Dr. Kanner came to the final diagnosis of autism.

What are the causes of autism spectrum disorders?

The causes of autism, today, are still unknown. The majority of researchers, however, agree in stating that they can be genetic but that neurobiological causes and environmental risk factors still contribute to the onset of this pathology.

The observations underlying the genetic causes are:

familiarity, in fact many autistic people have, or have had, relatives with similar problems;
being carriers of certain genetic diseases (Rett syndrome, Angelman syndrome, etc.). For reasons that are still unclear, autism is also associated with other pathologies, including learning disabilities such as dyslexia and dyscalculia, ADHD, Tourette’s syndrome, epilepsy, obsessive-compulsive disorder, depression, bipolar disorder, sleep disorders, and tuberous sclerosis;
the involvement of some genes associated with the neurodevelopment sphere (brain structure and functions), even if at the moment there is no scientific evidence that demonstrates a genetic correlation between some mutations and the presence of any form of autism.
More recent studies suggest that autism spectrum disorders may occur following the birth of abnormal neurons (neurobiological causes) that fail to create correct connections with the other nerve cells of the brain, to the point of causing incorrect functioning of the entire organ. Neuronal networks are formed mainly during the fetal development phase, for this reason, it is hypothesized that the cause of this disorder is due to a combination of genetic factors and congenital alterations.

Even if there is no supporting scientific evidence, environmental risk factors, on the other hand, mean events that could affect the onset of autism such as:

premature birth;
abuse of alcohol and drugs by the mother during pregnancy;
the exposure of the fetus to continuous pollution;
any infections contracted by the mother during the gestation period;
the advanced age of the parents at the time of conception.
Finally, autism occurs more frequently in males, with a male: female ratio of 4:1. This means that men have a 4 times greater risk of suffering from autism than women.

What are the symptoms of autism?

The first symptoms of this pathology can appear around the age of 2-3 and are extremely variable, both in extent and in severity. Each patient represents a distinct case different from any other. In general, however, the most common and distinctive symptoms are:

delayed speech development;
frequent repetition of words or phrases;
monotony in the sound of the voice and lack of facial expressions;
repetition of movements such as rocking or clapping;
excessive sensitivity to bright lights and sharp sounds;
disinterest in any form of social interaction;
lack of emotion;
tendency to withdraw;
sudden and unreasonable outbursts of aggression and a tendency to be intrusive;
above-normal development of cognitive potential, memory, numeracy, musical and mathematical abilities;
lack of coordination in movements.
With growth, the symptomatology of the person with autism can change both for the better and for the worse, unfortunately.

How to diagnose autism?

The medical classification of the signs of autism makes use of the indications of the Diagnostic and Statistical Manual of Mental Disorders (DSM).

Unfortunately, the diagnosis is often made around the age of 6, when the child starts attending school and shows the first difficulties. On the other hand, an early diagnosis around 2 years of age would make it possible to activate therapeutic interventions in time.
The diagnostic process involves the involvement of various professionals (psychiatrists, psychologists, pediatric neurologists, and speech therapists) and requires a series of evaluation tests, such as an objective examination capable of establishing the degree of development of language, behavior, and communication skills. It will therefore be the neuropsychiatric, neurological, and general medicine assessments that characterize the therapeutic needs, not only health, of the patient on the autistic spectrum. Genetic tests may also be carried out to establish the possible nature of some symptoms.

The role of the family pediatrician is essential to activate the diagnostic process, to promptly identify the symptoms, and to refer the family to a specialist. Parents and teachers, if the child attends school, are also involved in the diagnosis: they are asked to fill in a questionnaire that serves to clarify the patient’s aspects and behaviors.

Making an accurate diagnosis is of fundamental importance in order to define the most appropriate therapy.
How is autism treated?

Since autism is not a disease but rather a set of disorders characterized by the manifestation of symptoms and signs, there is no drug capable of curing it.

There are medications that, when used appropriately, can control symptoms.

There are also various activities aimed at mitigating autism spectrum disorders, including psychomotricity, speech therapy, facilitated communication, and many others, however without scientific basis.

The treatments recommended by specialists are:

educational interventions aimed at improving specific patient skills through certain activities;
cognitive-behavioral therapy, i.e. a form of psychotherapy that aims to teach the patient how to recognize and control certain behaviors that can be defined as problematic;
sessions based on psychological techniques involving the entire family of the patient. This type of therapy is successful if the whole family understands well every peculiarity of the disease in order to better help those affected.
The therapy must therefore be multimodal: psychological but also pharmacological, especially when some symptoms are particularly debilitating or in the presence of particularly associated pathologies. Examples include prescribing melatonin for sleep disorders, antidepressants for depression, anticonvulsants for epilepsy, methylphenidate for ADHD, and antipsychotics for excessive aggression.

Are there patient organizations that support patients with autism spectrum disorders?
Since 1985, the National Association of Parents with Autism (ANGSA) has promoted specialized education, health and social assistance, scientific research, training of operators, the protection of civil rights in favor of autistic people and people with generalized development. However, the lack of interest and inefficiency of local services in responding to the needs of people on the spectrum and their families has contributed to the establishment of a multitude of small associations. An example is “Abiliriamo Autismo Onlus – we live and enable”, established in 2017 at the behest of 5 families with young adult autistic children. The aim of the association was to create a multifunctional center in Cantù for the care of young adults with autism in order to improve their quality of life. A strong point of the association is represented by the presence, among the founding members, of the brothers of people with autism, who will be able to give strength, support, and continuity to the same. over the years, the association has been enriched with members and friends who have contributed to the realization of the many projects carried out so far.

What is Mario Negri’s commitment to autism research?
Department of Public Health researchers are engaged in research programs on autism and both related disorders, such as Rett and Angelman syndromes, and often co-occurring disorders, such as ADHD. Some of these studies are aimed at better characterizing the possible causes, others at evaluating the appropriateness of curative interventions, and still others at establishing the organizational efficiency and quality of diagnosis and treatment services for developmental age.

Often autistic children already show difficulties in communicating in their first year of life with others through words, looks, and gestures, even if it is difficult to get a diagnosis of autism before the age of 3 or 4. Early diagnosis of autism is therefore one of the objectives of the NASCITA project, in which researchers try to help doctors in the diagnosis by compiling appropriate screening tests, to be performed already within the first two years of age. These early assessments involve the young patients, the family pediatrician, and the parents.

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