What are autism and autism spectrum disorders?

Autism is a complex neurodevelopmental disorder that affects the way a child develops and how they perceive and respond to the world around them. The brain of a person with autism functions differently from the very beginning of life, which means that the child’s development follows a different path to that of their peers. It is important to understand that autism is not an illness that can be cured – it is, rather, a developmental characteristic that a person lives with throughout their life.

Nowadays, this condition is understood as autism spectrum disorder, that is, a broad range of disorders with varying degrees of severity. The medical term is autism spectrum disorder (often abbreviated to ASD). This means that the spectrum of these disorders is very broad: every person with autism has a slightly different set of characteristics and difficulties. It encompasses both children diagnosed with the most severe forms (formerly classified as early-onset autism) and so-called ‘high-functioning’ individuals (formerly referred to, for example, as having Asperger’s syndrome).

Autism most often becomes apparent in childhood – this is referred to as childhood autism. It is estimated that autism in children affects around 1 per cent of the population (approximately 1 in 100 children) and is diagnosed more frequently in boys than in girls (around 3–4 times more often). In the case of girls, the symptoms of the condition may be less obvious – girls on the autism spectrum are not diagnosed as quickly because their difficulties tend to be more subtle and are more often overlooked.

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Early-childhood autism – characteristics and distinct features

Early-onset autism (also known as childhood autism or Kanner’s syndrome) is the classic form of autism spectrum disorder, characterised by a very early onset. A characteristic feature is the appearance of the first developmental abnormalities in early childhood – the first symptoms of early-onset autism are usually apparent before the child reaches the age of 3. By way of comparison, ‘atypical autism’ is also recognised, in which symptoms appear later or present in an atypical manner (according to the ICD-10 classification, a diagnosis of atypical autism is made when the full symptoms only become apparent after the age of 3 or the clinical picture of the disorder does not meet all the classic criteria).

The most recent diagnostic classifications (DSM-5, in use since 2013, and ICD-11, effective from 2022) no longer distinguish between childhood autism and atypical autism – all such disorders are simply referred to as autism spectrum disorder (ASD), taking into account the level of functioning and support needs. Nevertheless, the term ‘early-onset autism’ is still used to emphasise the early age at which the disorder manifests. Early-onset autism is also sometimes referred to as congenital autism, as a child with autism exhibits characteristic developmental features from the outset.

Statistics show that early-onset autism is diagnosed significantly more often in boys – for every girl diagnosed with autism, there are approximately four boys. In the past, this disorder was considered rare (Kanner’s classic syndrome was reported at a rate of 5–10 per 10,000 children). Nowadays, with a broader understanding of the autism spectrum, we know that autism spectrum disorders affect around 1 per cent of the child population.

Causes of early-onset autism

Despite extensive research, the exact cause of this disorder has still not been definitively established. Current knowledge suggests that this is a multifactorial disorder (primarily genetic). This means that there is no single, simple cause – a combination of various factors may contribute to the onset of the disorder. The most important of these include, amongst others:

Genetic factors:

Heredity plays a major role. Studies of twins have shown that if one identical twin has autism, the risk of the other developing the same condition can be dozens of times higher than in the general population. Many genes have been identified whose mutations or minor variations may increase susceptibility to autism spectrum disorders.

Early developmental disorders of the nervous system:

Researchers have observed various abnormalities in the structure and function of the brain in people with autism. For example, some children with this condition have been found to have a different structure of neural connections or a slightly different structure in certain areas of the brain (e.g. enlargement of the ventricular system). Such neurobiological changes are likely to arise very early on, during the prenatal or perinatal period.

Perinatal and environmental factors:

Certain complications during pregnancy and childbirth may increase the risk of autism. For example, serious viral infections during pregnancy, significant perinatal hypoxia or extreme prematurity may be linked to the condition. It is emphasised, however, that these factors are regarded more as triggers in a child with a genetic predisposition – they do not, in themselves, constitute a direct cause of the disorder.

In summary, this disorder is predominantly genetic in nature, although environmental factors during early life also influence its development.

It is worth noting that autism is not caused by parenting mistakes or emotional factors. The historical concept of so-called ‘cold mothers’ (which suggested that a cold relationship between a parent and their child caused autism) has been disproved.

Similarly, the popular myth linking autism to vaccination has no scientific basis. Due to the complexity of the condition and the very early onset of developmental abnormalities, we are currently unable to prevent autism. However, through early therapeutic intervention, we can support a child from the moment the first noticeable symptoms appear.

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The first signs of early-onset autism

Early-onset autism often shows subtle signs as early as the first dozen or so months of a child’s life, although these subtle symptoms are easily overlooked. Parents usually begin to suspect that something is unusual when a baby or young child is not developing in the same way as their peers. The main early warning signs include:

Limited social contact:

The baby may avoid looking their carer in the eye – eye contact with other people may be poor or non-existent. The child may seem ‘lost in their own world’: they do not respond to their name and do not seek attention from adults in the same way as other children.

No shared attention:

Around the age of one, typical toddlers point at objects that interest them, wave goodbye or try to share their joy with their carer. A child with autism does not point at objects, wave ‘bye-bye’ or try to draw a parent’s attention to something interesting – as if they were unaware of the need to share their experiences.

Unusual reactions to stimuli:

As early as the first year of life, a child may display unusual reactions to sounds, visual stimuli or touch. For example, a toddler with autism may completely ignore a very loud sound, whilst at the same time reacting with intense agitation to another, completely quiet sound. Unusual reactions to tactile, olfactory or visual stimuli may also be observed – certain ordinary sensations may cause the child discomfort or, conversely, the child may seek out more intense sensory experiences than their peers.

Delayed speech development:

Many children on the autism spectrum start speaking later than their peers, or may not develop spontaneous speech at all. A baby may babble less frequently and make fewer sounds. Around the age of 1½–2 years, parents often notice a lack of typical first words or simple sentences. It is not uncommon for a child who has already started to say a few words to suddenly regress in their speech development and lose previously acquired language skills.

It is worth bearing in mind that a single symptom (e.g. a lack of babbling) does not necessarily indicate autism – however, the simultaneous occurrence of several of the above difficulties is a clear sign that you should consult a specialist. The sooner we identify worrying symptoms of autism, the sooner we can begin providing the right support for the child.

Symptoms and behaviours of a child with autism

As a child with autism spectrum disorder gets older, differences in their behaviour become increasingly apparent. The symptoms of early-onset autism primarily relate to three areas: communication (speech and language), social interaction, and patterns of behaviour and interests. Typical symptoms of autism in children in these areas are set out below:

Difficulties with communication and speech:

A child with autism may not speak at all or may develop speech in an unusual way. In some children, speech does not develop at all – the child then communicates using gestures, pictures or facial expressions. Other children say words and sentences, but their speech may sound unusual (e.g. very formal) and does not facilitate effective communication. A characteristic feature is a literal understanding of language – the child finds it difficult to understand figurative language or jokes, which is why phrases such as ‘have a look’ can confuse them.

Echolalia may occur, which is the repetition of words or sentences heard by the child (for example, in response to a question, the child repeats the entire question instead of answering). Communication difficulties also affect non-verbal communication – the child does not gesticulate in the same way as other children, rarely smiles in response to a smile, does not show their feelings through facial expressions, or does not understand other people’s facial expressions and gestures.

Social interaction disorders:

Children with autism have marked difficulties in forming relationships with their peers and playing together. They often fail to understand other people’s behaviour or to respond appropriately to the emotions of those around them. A lack of eye contact during interactions is also characteristic – the child avoids looking even at those closest to them. Furthermore, such a child usually does not feel the need to involve others in play or to share their joy, which is why they are sometimes perceived as being closed off in their own world.

Stereotypical behaviours and limited interests:

A strong need for consistency and predictability in their environment is very characteristic of autism. People with autism often become strongly attached to routines – a child may require a strictly fixed daily schedule and react with anxiety or anger to any change, however minor (e.g. a different order of activities, rearranging the furniture in the room). Repetitive, seemingly purposeless body movements, known as stereotyped movements, also occur (e.g. flapping their hands, rocking, spinning round in circles).

A child with autism displays very narrow, intense interests – they may obsessively gather information on a single topic (e.g. trains, dinosaurs, numbers), play with just one toy or watch the same bit of a cartoon over and over again, ignoring other activities. Other, more typical toys may not arouse their interest at all.

The symptoms of autism listed above may vary in severity from child to child. Not every child with autism behaves in exactly the same way – which is why we speak of a spectrum. What is important, however, is that a young child’s social and communicative development differs qualitatively from that of their peers. If we observe marked deviations in a child’s behaviour (e.g. a lack of response to people, unusual ways of playing with objects, repetitive rituals), we should consult a paediatrician or a child psychologist without delay.

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Diagnosis of early-onset autism

Diagnosing this disorder in a young child is a process that requires cooperation between the parents and a team of specialists. The first step is usually the parents’ vigilance – they are the ones who notice on a day-to-day basis that their child’s development is not on track and raise their concerns with a paediatrician or psychologist. The next step is to see a doctor, ideally a child psychiatrist who specialises in developmental disorders in children. The doctor will carry out an initial assessment and – if necessary – refer the child for more detailed developmental assessments.

The final diagnosis of the disorder is usually made by a diagnostic team comprising several specialists: a child psychiatrist, a clinical psychologist, a special needs teacher and a speech and language therapist. This team carries out a multi-faceted assessment – this includes a detailed interview with the parents (covering, amongst other things, the course of the pregnancy, the birth and the child’s development to date), observation of the child’s behaviour in various situations, and often also standardised developmental tests and questionnaires to assess autistic symptoms.

It is important to assess both the child’s current functioning and their developmental history to date, as it is essential to confirm that certain characteristics were already present in early childhood in order to make a diagnosis.

During the diagnostic process, specialists must also rule out other possible causes of the observed symptoms. Additional tests are therefore sometimes carried out, such as a hearing test (to check whether the child’s lack of response is due to hearing loss), metabolic or genetic tests, or brain imaging. The aim is to rule out other developmental or neurological disorders – the differential diagnosis takes into account, amongst other things, hearing impairment, severe visual impairments, intellectual disability, specific language disorders, as well as rare genetic syndromes (e.g. Rett syndrome) or very early-onset psychotic disorders. Only after such a comprehensive assessment can a diagnosis of autism be confirmed with a high degree of certainty.

It is worth noting that, although a diagnosis of early-onset autism can technically be made as early as the age of two, many children are diagnosed slightly later – at pre-school age, and sometimes not until the early years of primary school (especially if the symptoms were milder). Awareness of autism is growing, and it is now increasingly common to diagnose the condition in two-year-olds, which offers the chance to start appropriate therapy sooner.

Therapy for early-onset autism

Starting intensive therapy at an early stage can significantly improve a child’s functioning. The therapeutic approach is always tailored to the individual needs and abilities of each child – there is no single, universal method of support. The best results are achieved through a multi-disciplinary approach, combining various forms of intervention. Key elements of such therapy include:

Behavioural interventions:

One of the most popular methods for working with children with autism is behavioural therapy (e.g. Applied Behaviour Analysis – ABA). It involves systematically teaching the child new skills (communication, social and self-care skills) through the use of a system of rewards and positive reinforcement. The therapist helps to eliminate undesirable behaviours and reinforces desirable ones.

Speech and communication therapy:

It is very important to work with a speech and language therapist to develop speech and communication skills. If the child does not speak, alternative methods of communication are introduced (e.g. picture-based communication or simple gestures). If the child does speak, the therapist teaches them how to communicate their needs and engage in conversation. Another important aim is to improve their understanding of language (e.g. figurative language, jokes) and their use of non-verbal communication (gestures, facial expressions).

Social skills training:

Children with autism need to be taught, in a specialised way, the social behaviours that come naturally to others. As part of their therapy (often in small peer groups), they are taught skills such as playing together, taking turns in conversation, understanding other people’s emotions and intentions, and making friends. Integration classes in nurseries and schools are helpful, as is individual psychological therapy focused on social skills.

Therapeutic activities:

Various forms of occupational therapy and support for sensory development yield beneficial results. Sensory integration (SI) sessions are often introduced to help the child process sensory stimuli more effectively and cope with sensory hypersensitivity (or hyposensitivity). Therapies involving play and activity also have a positive impact on the child’s condition – for example, hippotherapy (interaction with a horse), dog therapy (sessions with a therapy dog) or art therapy (therapy through art). Such activities increase the child’s motivation to communicate and explore their surroundings.

Educational support:

A child with autism requires an appropriate approach in nursery and school settings. They often attend additional remedial classes and follow an adapted curriculum. Teachers and carers should be trained to work with such pupils – ongoing cooperation between parents and the educational institution is vital. In some cases, the child is provided with an assistant to support them during lessons. It is crucial that the skills learnt in therapy are also applied in everyday life; therefore, the school environment must work in partnership with the therapists.

Family support:

An equally important element of the therapeutic process is psychoeducation for parents. Carers learn how to interact with their child, how to support their development at home, and how to deal with challenging behaviours. Support groups are available for parents of children with autism, as well as parenting skills workshops – these provide an opportunity to share experiences and help parents cope with the challenges of everyday life.

It is worth emphasising that pharmacological treatment (pharmacotherapy) does not cure autism itself, but is sometimes used as an adjunctive treatment for co-occurring problems. If a child exhibits severe tension, self-harm, sleep disturbances or anxiety, a psychiatrist may prescribe medication to alleviate these symptoms (e.g. sedatives, concentration-enhancing drugs or mood stabilisers).

It should be borne in mind, however, that medication plays a secondary role here – its sole purpose is to alleviate certain difficulties (e.g. tantrums, obsessive behaviours), whilst developmental therapy remains the primary form of support. At present, there are no medicines that treat the underlying causes of autism or eliminate its core symptoms.

Early and intensive therapy is of the utmost importance. The sooner a child with autism receives specialist support, the greater the chances of improving their functioning. Thanks to appropriate interventions, many children with autism learn to communicate, acquire new skills and make progress that improves their quality of life.

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Diagnosis of autism at the Dialog Centre for Children and Families

We carry out a comprehensive psychological assessment of the autism spectrum — thoroughly, providing a complete picture of the child’s potential and recommendations for the school.

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Prognosis and life after a diagnosis of autism

The prognosis varies greatly from child to child – it depends on the severity of the condition, the child’s level of intellectual development, the presence of additional challenges and, above all, how early intensive work with the child began and how intensive the support provided was. It is impossible to predict such a child’s future in advance. One thing is certain: appropriate support can significantly improve their functioning.

Many of these children make significant progress over time: they learn to communicate, gain an education, and as adults may find work or even start a family of their own. A great deal depends here on therapy and its outcomes – which is why the importance of early diagnosis of autism and the prompt commencement of therapeutic interventions is so strongly emphasised.

It is important to remember, however, that autism is a lifelong condition. Even if the symptoms ease, certain difficulties may arise at later stages of development. A child with autism will continue to need understanding and support throughout their teenage years and into adulthood.

Some people on the autism spectrum will be able to function fairly independently, whilst others – particularly those with a co-occurring intellectual disability – may require care and support throughout their lives. Fortunately, public awareness of autism is growing, and people with autism now have ever greater opportunities for personal development and participation in society.

This diagnosis undoubtedly changes the lives of the whole family. Despite the many challenges, it is important to remember that every child on the autism spectrum also has their own strengths, talents and feelings. With patient effort, acceptance and love, you can help them connect with the world and achieve the greatest possible independence. Parents of children with autism are not alone on this journey – there are many organisations and specialists on hand to offer support.

With the right treatment and support, these children have the chance to fulfil their potential and lead fulfilling lives in line with their own abilities.

Bibliography

  1. Pisula, E. (2021). Autism: Causes, Symptoms, Treatment. Gdańsk: Harmonia Publishing.
  2. Pisula, E. (2012). Autism: From Brain Research to Psychological Practice. Sopot: GWP.
  3. Pużyński, S., Rybakowski, J., & Wciórka, J. (eds.) (2011). Psychiatry – Volume 2: Clinical Psychiatry. Wrocław: Elsevier Urban & Partner.
  4. Namysłowska, I. (ed.) (2012). Child and Adolescent Psychiatry. Warsaw: PZWL.
  5. Brasic, J. R. (2017). “Autism.” Medscape – Emedicine (accessed online).

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Diagnosis of autism at the Dialog Centre for Children and Families

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