Autism spectrum disorders in a nutshell: do you know the symptoms?

Autistic spectrum disorders include several neurodevelopmental disorders of the central nervous system and other related conditions. They differ in many aspects, but have several common features.
These are a lack of social interaction, social communication and imagery, with the presence of stereotyped behaviour.
In some cases, intellectual and motor impairment or other severe psychiatric disorders are added to the basic symptomatology.

In any case, these disorders put the patient at a disadvantage compared with other healthy individuals.
The limitations in interpersonal communication and repetitive patterns of behaviour and interests bring with them problems in everyday life.
Patients have difficulty establishing and maintaining any kind of relationship, which causes difficulties in fitting in with society as a whole.

These diseases are caused by a disorder of the development of the central nervous system. They are genetic predispositions or congenital or acquired gene mutations.

Causes of autism spectrum disorders:

• genetic factors, gene mutations
• environmental factors in the prenatal period
• disorders of the immune system
• hormonal influences
• effects of neurotransmitters

Autism spectrum disorders encompass a broad continuum of patients

The intensity of the manifestations of the various autism spectrum disorders combined with the unique personality of each patient is highly individual. It creates a broad continuum of patients with markedly different manifestations.

Spectrum ⇒ wide and diverse range of symptoms

It is for this reason that some may be more visible and others masked and more difficult to diagnose.

Which disorders are on the autism spectrum?

Autistic spectrum disorders are neurodevelopmental disorders or diseases caused by abnormalities in the central nervous system. They are also described in some literature as a broader form of autism, which includes autism itself and a range of other disorders.
Autism spectrum disorders are most likely to have a genetic, neurological or metabolic basis.
They manifest themselves in abnormalities at the communication, social, cognitive, emotional and motor levels.

Pervasive developmental disorder - a mild form of autism

The term pervasive developmental disorder refers to abnormalities on the autism spectrum that are not so pronounced as to meet the criteria for autism. It could be said to be a milder form of the disorder. Patients cannot be clearly diagnosed with autism, but neither can the child be clearly declared healthy.

Many paediatric patients diagnosed with autism at a younger age were labelled with the term pervasive developmental disorder precisely because the manifestations of autism were still subtle.

Autism - a parent's nightmare

Autism is an autism spectrum disorder in all aspects. It includes communication disorders, socialisation disorders, but also imagination disorders with a typical preference for routine activities.

The development of communication is significantly delayed in autistic patients. Abnormalities can be observed as early as the time of babbling. Not only do they have a speech problem, but they also respond poorly to the spoken word. It is normal for an autistic child not to respond to his parent calling him by name. Reactions to other acoustic stimuli are also poor.

Due to a combination of speech deficit, lack of emotion and empathy, they have great difficulty in establishing interpersonal relationships. They prefer solitude and seclusion. They are such "morbid introverts". However, the reason is not a rejection of society, but their illness does not allow them to do so.

Outbursts of anger and childish aggression towards themselves and others are typical. Comorbidity with other psychiatric disorders is often present. Various phobias are at the forefront.

Tip: Aggression in children. How to manage an unmanageable child?

Asperger's syndrome - an intelligent oddball

Asperger's syndrome is the mildest form of autism spectrum disorders. Patients have problems with establishing communication, socialising and also imagination, just like in autism.
What's the difference?

They have average, but paradoxically in some cases above average intelligence. We do not see that in autism. Although it is a neurodevelopmental disorder, these patients can live a full life with early diagnosis and treatment.

Speech development and communication skills are preserved. Yet, they cannot communicate with other people on the same level. The problem for children with Asperger's Syndrome is establishing bonds with other people. They are more withdrawn, they like routine activities. If they are passionate about something, they can excel at it.

Tip: Does your child have Asperger's Syndrome?

Rett syndrome - the most dangerous form of autism spectrum disorder

Rett syndrome is one of the really rare but all the more serious diseases. Unlike other autism spectrum disorders, we know the exact cause. It is a mutation of the MECP2 gene on the X chromosome.

Manifestations appear around the second year of life. They start with a gradual loss of fine and then gross motor skills. Movements become progressively worse and mental retardation is associated. The final stage is failure of vital functions (cessation of breathing, circulation).

Heller syndrome - childhood dementia

Heller syndrome is a childhood disintegrative disorder. It manifests itself initially by normal development of the child, with a gradual loss of abilities and acquired skills. Such a phenomenon is usually seen in older patients with senile dementia. Therefore, this syndrome is also called childhood dementia. The cause is degenerative changes in the brain.

The child begins to forget what he or she has learned, and there is a regression of skills. The regression phase occurs around the age of three, sometimes later. It lasts from four to eight weeks. At the beginning, the child cannot remember a word, but later there are more words. There is a loss of social activities. Motor impairment sets in, and eventually the child cannot even hold a stool.

Tip: Dementia can also occur at a young age

Early diagnosis and screening for autism spectrum disorders today

Diagnosis of autism spectrum disorders is based on a psychiatric examination of the child, his/her manifestations and anamnestic data obtained by interviewing the parents.
The early diagnosis of autism spectrum disorders also determines the subsequent prognosis.
This is impossible until about one year of age. Manifestations are almost non-existent in this period due to the age. Alternatively, they are difficult to catch.
Ideally, it takes place within two years of the child's age, at the latest by three years.

Interesting:
Some experts still hold the view that diagnosis of autism spectrum disorders is not possible before the age of three.
However, it should be noted that cases of autism spectrum disorders diagnosed in this period have been confirmed at a later age, with an accuracy of 80-100%.

The diagnosis is based on anamnestic data from the parents and the child's clinical manifestations

The manifestations of autism spectrum disorders are varied and highly individual. In milder forms of the disorder, their subtlety may delay diagnosis, thus worsening the child's prognosis.

The first, crucial aspect is the parents' fears and suspicions that something is wrong.
The parent is with the child 24 hours a day and is therefore the most important link in catching the first symptoms.
No paediatrician should just wave his or her hand over them. They should take them seriously from the start and give them plenty of time.

What are the most common concerns of parents?

• Delayed speech development
• low vocabulary relative to the child's age
• any other speech disorder
• isolation of the child from other children (loneliness)
• inability to make contact with peers
• 'not fitting in' with other children
• any abnormality in the child's behaviour
• inability to adapt

The clinical manifestations of children with autistic spectrum disorders are varied. However, they take place at the level of social interaction, communication and imagination. They occur to a different extent in each child and their intensity is also very varied.

What are the most common manifestations in children with autism spectrum disorders?

• Delayed onset of speech
• complete absence of speech ability
• inability to engage in conversation
• inability to sustain a conversation
• inability to compensate for verbal deficits with non-verbal deficits
• abnormalities in non-verbal communication
• inability to sustain attention
• stereotyped patterns of behaviour and interests
• behavioural disorders, tantrums
• aggressive behaviour towards self and others
• other mood disorders or mood swings
• preoccupation with insignificant parts of objects
• motor abnormalities (hypotonia, tiptoeing, clumsiness)
• inability to establish and maintain relationships
• lack of emotional feeling
• lack of sharing joy and happiness with others
• absence of fear (when in real danger)
• poor to no imagination, imagery
• sensory deviations (sensitivity to noise, touch)
• taste deviations (preference for only certain foods)
• sleep disturbances

What does screening for autism spectrum disorders mean?

Screening methods are concerned with the targeted search for and detection of disorders and diseases that have not yet manifested themselves outwardly. They are used to identify a specific population group that is considered to be at high risk in some respect.

Screening for Autism Spectrum Disorders is used to detect early and quickly sick children in a large group that is considered healthy. It is used to suspect a possible later disorder in a particular child who shows certain risk features. Active screening has a nearly 100% success rate. Misdiagnosis of Autism Spectrum Disorders can also be beneficial because it detects other neurodevelopmental disorders early!

Currently, a two-step screening method based on Diana Robinson is used. Based on two short questionnaires, along with 40 targeted questions, it is possible to assess the risk of developing these disorders.

The questions focus on the child's normal activities such as climbing, walking and climbing furniture, but also on reactions such as smiling back, responding to one's name, maintaining eye contact or motor expressions such as repeating adult movements, nodding, clapping etc.

Read carefully before completing the questionnaire:
Each questionnaire has 20 identical questions. The first one has yes and no answers, and the second one has pass and fail answers.
Observe your child carefully and answer each question honestly. You can only fool yourself by not answering honestly, no one else.
A positive result (i.e., high risk of autism spectrum disorder) does not mean that your child has this diagnosis. Positivity in the tests reveals not only the risk of autism spectrum disorder, but also other neurodevelopmental disorders.
Tell your child's pediatrician about the result of the questionnaires. A positive result means 80% to 100% disorder anyway!

Is it possible to treat autism spectrum disorders?

As with all disorders for which the etiopathogenesis is not precisely understood, the treatment for autism spectrum disorders is still unknown.
However, analysis has proven to improve the manifestations of these disorders and thus the quality of life. To date, it remains the only alternative.
It is carried out by an educated therapist with the help of the parent as a "secondary therapist".

Applied behavioural analysis remains the only alternative in the treatment of autism spectrum disorders.

Applied behavior analysis is a proven method of intensive education and training for patients with autism spectrum disorders, as well as other developmental disorders. Its founder is B. F. Skinner.

It focuses on learning and mastering communication skills, cognitive skills, self-care skills, and building new social connections.
It helps patients develop new patterns of behavior based on observation and evaluation of old and harmful ones. It is based on the premise that a person's behavior is significantly influenced by his or her immediate environment.
It is therefore a targeted process of changing old behaviors.

Applied behavioural analysis is usually combined or integrated with other forms of therapy. Most often it is speech therapy, which helps the child to acquire the necessary communication skills. Play therapy is also used extensively. Occupational therapy, a work therapy that the child also perceives as play, works on a similar principle. It also includes physiotherapy, cognitive behavioural therapy, music therapy, visualisation, and the use of pictograms or tablets as a form of learning.

The individual approach of applied behavioural analysis to the patient

Each patient must have a precisely developed individual program. This is based on his or her specific diagnosis and the individual abilities of each child.

The programme focuses on promoting the child's developmental skills, namely attention, behaviour, communication and consolidating his motivation. The therapist achieves this in three points. First, he instructs the child, waits for his reaction (in case of an incorrect reaction, he uses examples to cultivate the correct one) and finally rewards him. The reward is more etched in the child's memory than anything else. To achieve it, they make a greater effort.

Applied behavioural analysis has helped many patients with autism spectrum disorders. In many cases they have achieved normal levels of intelligence, correct social behaviour. They have even managed to cultivate emotional feeling!

Are there also any medications for these disorders?

There is still no medical (drug) therapy that can completely cure a patient of autism spectrum disorder.

However, in some cases, medications are used to control some of the symptoms. They are also used for psychiatric comorbidities.