Autism - Causes, Symptoms, Care

Generality

Autism is a serious disorder of neurodevelopment, which, in those who are carriers of it, jeopardizes interaction and social communication skills, induces repetitive behaviors and drastically limits the field of interests.

Currently, the causes of autism are unclear. According to some theories, its appearance would be due to genetic and / or environmental factors.

The symptoms and signs of autism are indeed very numerous and can vary greatly from patient to patient. In general, the first manifestations of autism appear at an early age or during early childhood.

Diagnosis requires the involvement of a team of professionals and involves various tests and evaluative examinations.

Currently, autism is an incurable condition.

However, there are supportive treatments that can effectively limit the various symptoms of the disease.

What is autism?

Autism is a serious disorder (or disease) of neurodevelopment, which, in those affected, compromises the capacity for interaction and social communication, induces repetitive behaviors and drastically limits the field of interests.

Therefore, an autistic person is a subject who finds it difficult to fit into the social context, is repetitive in some of his behaviors and is devoid of interest and of the will to try his hand at new activities.

Autism is a condition of a permanent nature, which, on those affected, has consequences from an early age.

WHAT IS A NEURO-DEVELOPMENT DISORDER?

Neurodevelopmental disorders are impairments of growth and development of the central nervous system (brain in particular).

Their presence has effects on the emotional-behavioral sphere, on learning skills, on memory, etc.

Epidemiology

According to some Anglo-Saxon research, in the United Kingdom, autism would affect an individual every hundred, with a greater spread in the male population.

LATEST INDICATIONS OF DSM-V

The DSM, or Diagnostic and Statistical Manual of Mental Disorders, is a collection of all the peculiar characteristics of known mental and mental illnesses, including the respective criteria required for diagnosis.

In the last edition of the DSM (5th edition), written in 2013, the term "autism" refers, in addition to the autism defined above, to various other problems of neurodevelopment, including: Asperger's syndrome, the disintegrative disorder of and the pervasive developmental disorder.

The inclusion of these problems under the heading "autism" is explained by the fact that, according to psychiatrists, they are in effect sub-forms of autism.

This view is, decidedly, recent, since, up until the penultimate edition (DSM-IV), disorders such as Asperger's syndrome or childhood disintegrative disorder represented pathological entities in their own right.

MEANING OF AUTISTIC SPECTRUM DISEASE

To define autism, psychiatrists and psychologists often use the term " autism spectrum disease ".

The word "spectrum" refers to the wide range of symptoms and signs that autism can cause, and to their considerable variability in terms of gravity.

Causes

Doctors and researchers have yet to identify the precise causes of autism.

According to some theories, the appearance of the aforementioned neurodevelopmental disorder would be linked to factors of a genetic nature or to particular environmental factors.

GENETIC FACTORS: HYPOTHESIS

The suspicion that autism may have genetic causes stems from several observations:

The fact that many autistic people have, or have had, relatives with similar problems. In some circumstances, the degree of kinship is indeed very high (for example, in the case of twins) and this does nothing but support the theory of genetic causes.
The fact that some individuals with autism are carriers of particular genetic diseases, including: fragile X syndrome, Williams syndrome, Angelman syndrome and Rett syndrome.
The fact that some experiments have revealed the existence of genes involved in brain development and in the control of all those brain functions, compromised in the presence of autism.

At present, it is impossible to affirm the existence of a link between certain genes of the human genome and autism: no scientific evidence, in fact, has shown with absolute certainty a genetic correlation between some genetic alterations (mutations) and the presence of a any form of autism.

ENVIRONMENTAL FACTORS: THE HYPOTHESIS

Premise: an environmental factor is any circumstance, event or habit that can affect the life of an individual to a certain extent.

According to the hypotheses of doctors and researchers, the environmental factors that could affect the presence of autism are:

Premature birth. A birth is premature when it takes place at least three weeks before the fortieth and last week of pregnancy.
The mother's intake of alcohol or certain medications (such as sodium valproate) during pregnancy.
The mother's massive exposure to highly polluted environments.
Maternal infections, contracted by the mother during pregnancy.
The advanced age of the parents, at the moment of conception.

Currently, the scientific evidence on this is still insufficient. This is why there are several experiments underway, whose objective is to demonstrate the effective connection between the points mentioned above and the condition of autism.

MALE INDIVIDUALS ARE PARTICULARLY AT RISK

As stated, autistic individuals are usually male people .

According to some statistical research, the ratio of males to females with autism is 4: 1 .

Thus, the tendency of the male population to suffer from autism is 4 times higher than the female population.

MYTHS TO DEAL WITH

Once upon a time, hypotheses circulated that autism could derive from or have any connection with:

Vaccination against measles, mumps and rubella ( MMR vaccine ).
Exposure to thiomersal (or thimerosal ), a preservative for vaccines, also used in the preparation of: disinfectants for ophthalmology, immunoglobulins, anti-venom serums, tattoo ink.

Over the past 10-15 years, several studies have shown that there is no link between the two aforementioned circumstances and autism.

Recently, several teams of scientists have debunked the myth that gluten and casein support the condition of autism and their elimination in the diet is a therapeutic remedy.

Symptoms and Complications

An autistic person may show the first symptoms and signs of the disease around 2-3 years of age .

However, autism is generally a condition that unmistakably manifests itself at the beginning of school, ie when the patient - who has problems with interaction and socialization - comes into contact, on a daily basis, with a large number of other people .

The symptomology of autism is extremely variable, both in terms of the extent of symptoms and in terms of gravity.

Consequently, each autistic patient represents a case in itself, different from all others.

COMMUNICATIVE SPHERE AND INTERACTION WITH OTHERS

In an autistic child, the symptoms and signs of autism that denote communication problems and interaction with others are:

A delay in language development.
The tendency to avoid spoken language.
The frequent repetition of a set of words or phrases.
Speak in a tone that sounds monotonous and uniform, as if you lacked the ability to adapt it to current situations.
The tendency to interpret anything heard literally and the poor ability to recognize a manner of speaking or a phrase with a sarcastic or humorous tone.
The tendency to communicate with single words, rather than with sentences.
Failure to respond to the pronunciation of your name by other people. Because of this strangeness, autistic subjects sometimes appear to be individuals with hearing problems.
In reality, however, their hearing abilities are almost always very normal.
The total disinterest (disinterest that, at times, it seems almost annoying) towards "cuddles" and gestures of tenderness, addressed by parents and other people.
The preference to stay and play alone.
Respond in an angry or aggressive way, without any particular reason.
The tendency to avoid eye contact.
Failure to use gestures and facial expressions to communicate.
Do not have fun in situations that are usually pleasant for peers, such as birthday parties.
There is little, if any, interest in wanting to make friends with one's peers.
The tendency to be intrusive.

Some of these problems - including for example the delayed development of language or the preference to play alone - can be found already in preschool .

BEHAVIORAL SPHERE

Among the classic abnormal behaviors of an autistic child are:

Perform repetitive movements, such as rocking back and forth or clapping your hands.
Use toys in different ways, compared to their true purposes.
Depend heavily on certain habits, so much so that a possible distortion of the latter represents a real drama.
Try strong attraction or marked repulsion towards food, depending on their color or preparation.
The tendency to smell toys, objects and people, for unexplained reasons.
Have very few interests, but manic. It is very common for autistic individuals to develop a particular attraction for certain activities or objects and devote most of their daily time to it.
Demonstrate a particular sensitivity to bright lights, certain sounds or physical contact (even when it is not painful).
Be in constant motion.

INTELLECTIVE QUOTIENT

Among people with autism, there are some with an IQ below average and poor learning ability, others with normal intelligence and others - but this is a real minority - with specific skills in the field of mathematics or art.

MOTOR SKILLS

Many individuals with autism show coordination problems and movement awkwardness .

SYMPTOMS IN ADULT AGE

In adulthood, the problems of a person with autism can improve - in some cases even clearly - or remain unchanged, if not worse.

WHEN TO REFER TO THE DOCTOR?

In the opinion of the doctors, parents should subject their child to specialized checks if:

At the age of 6 months, he does not smile or show any signs of joy / joy.
At the age of 9 months, it does not emit sounds and shows no particular facial expressions.
At the age of 12 months, he does not vocalize.
At the age of 14 months, he does not perform any return gesture, does not indicate, does not lengthen etc.
At the age of 16 months, he does not speak.
At the age of 24 months, he does not pronounce sentences of two words.

DISORDERS AND ASSOCIATED PATHOLOGIES

For reasons that are still unclear, autism is often associated with other diseases, including: some learning disabilities (dyslexia, dyscalculia, etc.), attention deficit hyperactivity disorder (ADHD), Tourette syndrome, l epilepsy, anxiety, dyspraxia, obsessive-compulsive disorder, depression, bipolar disorder, sleep disorders and tuberous sclerosis.

Diagnosis

In general, the diagnostic procedure for detecting autism involves a team of professionals - including psychiatrists, psychologists, pediatric neurologists and experts in language problems - and provides a series of analysis and evaluation tests .

Very important, for a correct diagnosis of autism, is also the consultation of the Diagnostic and Statistical Manual of Mental Disorders (DSM) and the comparison between the criteria reported in it and what is observed with the various analyzes and evaluation tests.

At present, there is no specific diagnostic test for autism . This, for obvious reasons, makes it more difficult to determine whether an individual is autistic or not.

For most patients, the age of diagnosis is school age ( 6-8 years ).

A diagnosis of autism in adult individuals is very rare.

ANALYSIS AND ASSESSMENT TEST

Generally, the analyzes and evaluation tests include:

An objective examination, which serves to establish the exact nature of the symptomatology. For example, a child who does not respond to his or her name may suffer from an undiagnosed hearing disorder. With the physical examination, doctors clarify this and other aspects of the same kind.
An analysis of the genetic profile, to clarify whether the individual under examination suffers from some genetic disease, among those previously reported (fragile X syndrome, Rett syndrome, etc.).
A specialized test that assesses social interaction, communication skills and behavior .
For this type of evaluation, it is very important to compare what has been observed by the person conducting the test and what has been observed by parents and school teachers up until that moment.
A specialist test that establishes language development .
A neurological examination, for the evaluation of mental health.
A questionnaire, addressed to parents, which serves to clarify whether, in the family, there are (or there have been) relatives with disorders similar to the individual under examination.

IMPORTANCE OF ACCURATE DIAGNOSIS

Accurately establishing the characteristics of autism on a case-by-case basis is very important, as it allows the specialist staff caring for a specific patient to plan the most appropriate therapy.

Treatment

There is no specific cure to cure autism.

However, in recent decades, doctors and specialists in neurodevelopmental diseases have developed supportive treatments whose goals are: minimizing the problems induced by autism and maximizing patients' abilities.

The aforementioned treatments involve many weekly hours of therapy, with a pediatric neurologist, a specialist in mental illness, an expert in learning disabilities, a language therapist and an occupational therapy expert.

SOME EXAMPLES OF TREATMENTS

The following support treatments are included:

Cognitive behavioral therapy . It is a form of psychotherapy, which aims to teach the patient how to recognize and dominate problematic (or inactive) behaviors.
Subjected to cognitive-behavioral therapy, an autistic patient should reduce his own behavioral problems (for example, limit his own delusions or repetitive gestures) and learn new communication skills.
Educational interventions . They consist of planned activities, the purpose of which is to improve specific skills / abilities.
In the case of autism, educational interventions aim to improve communication skills, social skills and behavior.
Family therapy . It is a form of psychotherapy that affects the whole family of the patient.
Briefly, it is based on the concept that parents, siblings and other close relatives play a decisive role in supporting their loved one, during the therapeutic path provided for him.
To get good results from family therapy, it is good that the family learns the characteristics of the disease in progress and how to best help those who are affected.

Some tips for parents with an autistic child:

Always use the name of the child in addressing him.
Make use of simple language.
Speak slowly and speak the words well. It can be useful to insert pauses between one word and another.
Accompany what is said with simple gestures.
Give the child the right time to work out what he has been told.

ARE THERE MEDICINALS?

Despite numerous scientific research on the subject, at present there is no specific drug against autism.

However, it should be pointed out that, in some situations, doctors and psychotherapists use drugs to control certain symptoms or particular associated diseases.

Possible medicines used in autism include: melatonin for sleep disorders, antidepressants (serotonin reuptake inhibitors) for depression, anticonvulsants for epilepsy, methylphenidate for ADHD and antipsychotics for anxiety or excessive aggression.

Please note that the aforementioned drugs can only be taken on medical prescription, as they can also have serious side effects on the person who uses them.

To learn more: Drugs for Autism Care »

SUPPORT FOR ADULTS

Individuals with autism can rely on the same supportive treatments provided for autistic subjects of a young age and on a series of specific aids, which support them, for example, to find a job or to become independent.

Prognosis

Although autism is an incurable disease, the supportive treatments available today are able to provide excellent results and greatly improve the problems of an autistic patient.

Doctors and experts believe that therapies are all the more effective, as soon as they start.