Diagnosis: Autism Spectrum Disorder (ASD)

Description

Autism, or Autism Spectrum Disorder (ASD), is a neurological and developmental disorder that affects interaction with others, communication with the environment, and behavior toward other people. Although ASD can be diagnosed at any age, it is described as a “developmental disorder” because symptoms most often appear in the first two years of life.

Autism is a pervasive developmental disorder that affects multiple functional areas of life. The affected areas typically involve a triad of impairments: reciprocal social interaction, communication skills, imagination and play, accompanied by restricted, stereotyped, and repetitive interests and activities in the child.

Every child with autism is unique in their own way. Children with autism do not necessarily display the same behaviors, signs, or symptoms associated with the syndrome. Differences rather than similarities tend to appear in each autistic child, various symptoms to different degrees, which forms the basis for individual and tailored approaches by professionals and caregivers according to each child’s needs and level of impairment.

According to the American Psychiatric Association, the diagnosis is based on these features:

· difficulties in communication and interaction with others

· reduced interests and repetitive behaviors (repetitive activities)

· symptoms that impair functioning at school, work, or in other social areas of life

· autism is known as a spectrum disorder due to its wide variability

Autism spectrum disorders occur across all genders, ethnic groups, and races, and in all economic and social layers. Although ASD is a lifelong condition, therapies can alleviate symptoms and improve daily routines. The American Academy of Pediatrics recommends universal screening for diagnosing autism.

In girls, autism can sometimes be harder to detect because they are quieter, better at hiding their feelings, and can mimic social situations more effectively than boys.

According to the International Classification of Diseases (ICD‑10), autism spectrum disorders include:

F84.0 Childhood Autism

Defined by abnormal or delayed development appearing before the age of three. It is characterized by abnormalities in all three areas of psychopathology: social interaction, communication, and restricted, stereotyped, repetitive behavior. In addition to these specific diagnostic features, a range of nonspecific deviations is often present, such as various phobias, eating difficulties, sleep disorders, affective and aggressive behaviors. The disorder is 3–4 times more common in boys than in girls.

Qualitative impairment in reciprocal social interaction includes difficulty understanding and using various forms of nonverbal behavior, inability to understand others’ emotions and respond appropriately, inability to express one’s own emotions adequately, inability to share attention, experiences, and activities, and inability to behave appropriately in different social situations. A child with autism struggles to integrate socially and build relationships. They avoid contact with others or show indifference, especially toward peers.

Qualitative impairment of communication appears in both verbal and nonverbal areas. Speech development is usually delayed and disordered; in some cases, speech does not develop at all, and there is no attempt to compensate with gestures or facial expressions. If speech is present, it is marked by difficulties in initiating and maintaining conversation. Verbally capable children may show typical autistic features such as echolalia (immediate or delayed), neologisms, and impaired pragmatic language. In nonverbal communication, deficits in gesturing may be observed.

Impairment of imaginative activity and its replacement with a narrow range of stereotyped activities means that the child is unable to engage in imaginative play with objects or toys (either with peers or adults). Functional play is suppressed in favor of detail-focused behavior. The child tends to focus on trivial details, for example, earrings instead of the person wearing them, or a wheel instead of the entire toy train. Imaginative activities are limited, mostly copied, and the child engages only in those. They lack interest in activities centered on language (such as conversation, literature - especially fiction, or wordplay) (Šedibová, 1997). Stereotyped movements are characteristic (spinning, rotating objects, rocking the head or hands, finger movements – flicking, wiggling). Compulsive behaviors or rituals may appear. The term fascination, as it is sometimes used, refers to the exceptionally strong interest in specific sensory stimuli, such as watching dripping water, flickering lights, etc. They often smell objects or touch them with their lips. Conversely, they may show extreme fear responses to certain stimuli (e.g., vacuum cleaner noise or children shouting).

F84.1 Atypical Autism

This type differs from childhood autism either by the age of onset (symptoms appear after age 3) or by not fulfilling all three areas of impairment. One or two of the required areas may be missing, although abnormalities are present elsewhere. Atypical autism appears most often in individuals with severe intellectual disability or in individuals with severe receptive language disorders.

F84.2 Rett Syndrome

To date, described only in girls and the cause is still unknown. Early development appears normal, but regression occurs between 7 and 24 months of age. There is partial or complete loss of acquired manual and verbal skills, along with slowed head growth. Regression appears in all areas. There is loss of purposeful hand movements, stereotyped hand-wringing, poor chewing, excessive drooling with tongue protrusion. In childhood, scoliosis, epileptic seizures, and intellectual disability are common. Compulsive hand-washing and other stereotyped hand movements prevent purposeful activity.

F84.3 Other Childhood Disintegrative Disorder

This disorder is very rare, or rather, it is very rarely diagnosed. It is 10 times less common than autism. The child’s development is usually normal until the age of 2, after which developmental problems emerge over the course of a few months. There is a definitive loss of previously acquired skills with severe emotional problems. Speech and communication decay, although nonverbal abilities may recover over time. Impairments in speech and social interaction remain lifelong. For a definitive diagnosis, a loss of skills must be confirmed in at least two of the following areas: expressive or receptive language, play, social skills or adaptive behavior, bladder and bowel control, or motor skills.

F84.4 Hyperactive Disorder Associated with Intellectual Disability and Stereotyped Movements

This is a vaguely defined disorder characterized by:

A. Severe motor hyperactivity (at least two symptoms must be present)

Persistent motor restlessness manifested by running, jumping, and other body movements.
An obvious difficulty remaining seated. The child usually remains seated only for a few seconds, except when engaged in a stereotyped activity.
Excessive activity in situations where relative calm is expected.
Very rapid shifts of activity, so that activities usually last less than a minute (occasional longer periods spent on a favorite activity do not exclude the diagnosis). Very long periods spent in stereotyped activities may be compatible with this condition.

B. Repetitive stereotyped patterns of behavior and activities (at least one of the following signs must be present)

Invariant and frequently repeated motor mannerisms, which may involve either complex movements of the whole body or partial movements, such as tapping with the hand.
Excessive and non-functional repetition of activities that have a fixed form: this may include play with a single object (e.g., running water) or ritualized activities (either solitary or involving others).
Repeated self-injury.
A lack of varied, spontaneous, symbolic, and socially imitative play corresponding to developmental level.

C. IQ below 50.

D. No autistic-type social impairment is observed (at least three of the typical autistic features must be absent)

F84.5 Asperger Syndrome

This disorder is characterized by the same type of qualitative impairments in reciprocal social interaction that are typical of autism, along with a restricted, stereotyped, and repetitive repertoire of interests and activities. It differs from autism primarily in that there is no general delay or impairment in speech or cognitive development. Most individuals have normal general intelligence, but are usually noticeably clumsy. The condition occurs predominantly in boys (approximately 8:1). It appears highly likely that at least some cases represent mild variants of autism, although this is not certain for all.

These abnormalities usually persist into adolescence and adulthood and seem to represent individual characteristics that are not strongly affected by environmental influences. Occasional psychotic episodes may occur in early adulthood.

F84.8 Other Pervasive Developmental Disorders

This category includes children for whom:

The quality of communication, social interaction, and play is impaired, but not to a degree sufficient for a diagnosis of autism or atypical autism.
The symptomatology is varied, individual symptoms may resemble those of autism, but never occur in the required number to meet diagnostic criteria. This represents borderline symptomatology with more non-specific features; however, this does not mean that caring for the child is easy; it is often the opposite.
The diagnosis often occurs in children with severe ADHD, developmental dysphasia, uneven cognitive development, intellectual disability, and few autistic-like behaviors.
Non-specific potential predictors of pervasive developmental disorders include anxiety, inattention, and hyperactivity.

The second group includes children with a significantly impaired capacity for imagination. They typically have difficulty distinguishing between fantasy and reality and display an intense, focused interest in a particular topic. Problems with imagination and stereotyped, rigid interests and behaviors affect the quality of communication and social interaction; however, this is a secondary disorder.
Their social behavior and communication show only minimal autistic features.
This group includes children with schizotypal and schizoid traits who do not meet criteria for any specific autism spectrum diagnosis.

F84.9 Pervasive Developmental Disorder, Unspecified

The age at which the disorder is recognized varies. Social skills vary, communication ability is weak, and loss of manual skills usually does not occur. Most affected individuals fall within the range of moderate intellectual disability to normal intelligence. Diagnostic criteria are not precisely defined.

Cause of Origin

Since individuals with autism present with a high heterogeneity of symptoms, it is assumed that the causes of its development are also highly variable, making it a multifactorial disorder. Genetic factors are very likely involved, interacting with environmental influences. Numerous clinical studies around the world describe anatomical changes in the brains of autistic individuals, alterations at the level of cellular structures, immune system dysfunction, changes in the levels of important signaling molecules in the brain and their receptors, chromosomal abnormalities, and other genetic deviations, as well as many additional possible causes.
For this reason, autism represents a major challenge for researchers, who aim to uncover its origins and help prevent its further increase, which has reached unprecedented levels in recent decades.

Diagnosis

Diagnosis is carried out through clinical–psychological assessment and a child psychiatric examination.

The diagnostic evaluation focuses on determining whether the deficits in communication, socio‑emotional understanding, and behavior correspond to ASD. An important part of the diagnostic process is also defining the child’s educational needs based on detailed psychological and special‑education assessments.

The evaluation consists of three parts:

Anamnesis interview
Psychological diagnostic assessment
Special‑education diagnostic assessment

Diagnostic procedures also include questionnaires completed by the child’s teacher (kindergarten, special kindergarten, primary school, special primary school, secondary school) to ensure that information about the child is comprehensive, coming from various sources and environments.

Psychological diagnostic assessment

For most children, the assessment is pleasant. It takes place through games, various tasks, and conversation, during which evaluators record behaviors that may be associated with ASD.
Duration: approximately 1.5 hours.

Special‑education diagnostic assessment and conclusion

During the second meeting, a special‑education assessment is carried out, focusing on deficits that may be related to ASD and could influence the educational process. It is conducted at a desk, or for small preschool children on the carpet, in the form of play using didactic tools.
This second meeting also includes a summary of findings and basic recommendations arising from the evaluation.

The goal of the assessments is to determine whether the child presents with an autism spectrum disorder and subsequently recommend further appropriate steps for schooling and necessary professional care. In cases where diagnostic conclusions are unclear, additional procedures may be proposed, such as another diagnostic session, observation in the child’s natural environment, video analysis, diagnostic‑therapeutic monitoring, etc.

Therapy

There is a wide range of therapies that support individuals with autism in their daily functioning. Early intervention is essential, as it provides families with guidance and helps them understand the available possibilities.

There is no universal list of therapies that parents of a child with ASD are expected to follow. Among the important therapies and specialists for autistic children are:

psychological interventions
special‑education support
rehabilitation therapy in cases of delayed psychomotor development
speech‑language therapy to support speech and communication techniques
animal‑assisted therapy (AAT)
drama therapy
art therapy
music therapy

Autism Spectrum Disorder (ASD)

General

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