How is Autism Diagnosed?

How is Autism Diagnosed?

What is Autism Spectrum Disorder?

ASD, or Autism Spectrum Disorder, is a developmental and neurological disorder that influences how people communicate and interact with others, behave and learn. Though professionals can identify autism at any age, it is defined as a "developmental disorder" because indicators usually appear in the first two years of your life.

How is Autism Diagnosed?

People with Autism Spectrum Disorder often have:

  1. Symptoms that disturb or hinder their ability to function in work, school, and other areas of life.
  2. Difficulty with interaction and communication with other people
  3. Repetitive behaviors and restricted interests

Autism is referred to as a "spectrum" disorder because of a wide disparity in the severity and type of symptoms people encounter.

People of all ethnicities, races, economic backgrounds, and genders can be diagnosed with Autism Spectrum Disorder. However, autism can be a lifelong disorder, and services and treatments can improve a person's daily functioning and symptoms. We recommend that all children receive an assessment for autism. Caregivers or parents should talk to their child's pediatrician about Autism Spectrum Disorder evaluation or screening.

Symptoms and Signs of ASD:

People with autism have trouble with social interaction and communication, repetitive behaviors, and restricted interests. The list below gives some instances of common types of actions in people diagnosed with autism. People with ASD will not have all the behaviors listed, but many will have several of those listed below.

Social interaction and communication behaviors may include:

  1. Making inconsistent or little eye contact.
  2. Appearing not listening to or looking at the speakers.
  3. Infrequently sharing enjoyment, emotion, or interest in activities or objects (including by showing or pointing at things to people).
  4. Being slow to respond or not responding to their name or to other spoken attempts for attention.
  5. Having trouble with the flow of conversation.
  6. Often excessively talking about a favorite topic without giving others a chance to respond or noticing that others are not interested.
  7. Displaying gestures, facial expressions, and movements do not match their words.
  8. Having a strange tone of voice that may sound flat and robot-like or sing-song.
  9. Having trouble perceiving another person's opinion or being unable to understand or predict other people's movements.
  10. Trouble adjusting actions to social conditions.
  11. Difficulties in making friends or sharing in imaginative plays.

Restrictive and repetitive behaviors may include:

  1. Having unusual behaviors or repeating certain behaviors, such as repeating phrases or words (a behavior known as echolalia)
  2. Having an intense interest in particular topics, such as facts, numbers, or details.
  3. Showing overly fixated interests, such as with parts of objects or moving objects.
  4. Becoming upset by minor changes in a set routine and having trouble with transitions.
  5. Being more or less sensitive than others to sensory input, such as sound, light, temperature, or clothing.
  6. People with Autism Spectrum Disorder may also experience irritability and sleep problems.

Strengths of Autism Spectrum Disorder:

People on the autism spectrum can also have many strengths, including:

  1. Learning topics in detail and remembering facts and information for a long time.
  2. Being strong auditory and visual learners
  3. Excelling in science, math, art, or music.

Risk Factors and Causes:

Researchers don't know the leading causes of Autism Spectrum Disorder. Still, research suggests that an individual's genes can act along with factors of their surroundings to affect progress in ways that lead to Autism Spectrum Disorder. Some aspects that are related to an increased likelihood of developing autism include:

  1. Having older parents
  2. Having a sibling with ASD
  3. Having a deficient birth weight
  4. Having specific genetic ailments (such as Fragile X syndrome or Down syndrome)

Diagnosing ASD:

Health care providers and caregivers diagnose Autism Spectrum Disorder by evaluating a person's development and behavior. Autism can usually be dependably diagnosed around the age of two. It is imperative to seek an assessment as soon as possible. The earlier autism is identified, the sooner the services and treatments can begin.

Diagnosis in Young Children:

Diagnosis in children is a two-stage procedure.

Stage 1: General Developmental Screening during Checkups:

Every kid should receive well-child examinations with an early childhood health care provider or a pediatrician. We recommend that all children go through screening for developmental delays at their 9-, 18-, and 24- or 30-month well-child appointments, with specific autism examinations. An infant might also receive additional screening if they are at extreme risk for developmental problems or Autism Spectrum Disorder. Such children include those who have older parents, have any family member with autism, have certain genetic conditions, and show some actions that are typical of Autism Spectrum Disorder or who had very little birth weight.

Considering health care providers' concerns and experiences is a vital part of the screening process for children. The caregiver may inquire about the child's behaviors and assess those answers in combination with data from clinical observations of the child and ASD screening tools.

If a child shows progressive differences in functioning or behavior during this screening process, the caregiver may refer the child for further examination.

Stage 2: Additional Diagnostic Evaluation:

It is essential to accurately discover and identify children with Autism Spectrum Disorder as early as possible, as this will explain their unique challenges and strengths. Early diagnosis can also help health care providers determine which behavioral therapies, services, and educational programs will most likely accommodate their child.

A team of professionals who have experience diagnosing Autism Spectrum Disorder will conduct the diagnostic assessment. This team may include occupational therapists, child neurologists, speech-language pathologists, developmental pediatricians, child psychiatrists and psychologists, and educational specialists.

The diagnostic evaluation is very likely to comprise:

  1. Assessment of the child's language abilities
  2. Assessment of the child's cognitive abilities
  3. Medical and neurological inspections
  4. Observation of the child's behavior
  5. A detailed conversation with the child's caregivers about the child's development and behavior
  6. Evaluation of age-appropriate skills required to independently complete daily activities, such as toileting, eating, and dressing.

Because Autism Spectrum Disorder is a complicated disorder that sometimes transpires with other learning disorders or illnesses, the comprehensive assessment may include blood and hearing tests. The examination outcome may result in a formal identification and references for treatment and cure.

Diagnosis in adolescents:

Teachers and caregivers are often among the first to recognize autism symptoms in adolescents and teenagers. The school's special education panel can perform an initial assessment and then suggest that a child undergo additional evaluation with their primary caregiver or an expert in Autism Spectrum Disorder.

A child's health care provider may talk with the caregiver about their child's social problems, including problems with indirect communication. These subtle communication discrepancies may include problems understanding body language, tone of voice, or facial expressions. Adolescents may also have trouble understanding sarcasm, figures of speech, or humor. They also might have difficulty forming friendships with colleagues.

Diagnosis in adults:

Diagnosing ASD in adults is often more problematic than diagnosing autism in children. In adults, some ASD symptoms can intersect with symptoms of other psychological health disorders, such as anxiety disorder or ADHD.

Adults who notice the symptoms and signs of Autism Spectrum Disorder should talk with a professional and ask for a recommendation for an ASD evaluation. Adults can be referred to a psychiatrist, neuropsychologist, or psychologist who has experience with Autism Spectrum Disorder.

The expert will ask about:

  1. Sensory issues
  2. Communication and social interaction challenges
  3. Restricted interests
  4. Repetitive behaviors

The examination also may include a discussion with family members or caregivers to learn about the person's early progress history, which can help ensure a precise diagnosis.

Is there something thing known as an autism gene?

They're not a thing known as the "autism gene." Several disorders associated with autism stem from transformations and mutations in a single gene, including fragile Rett and X syndromes. But less than 1% of non-syndromic instances of autism arise from alterations in any single gene. There is no such thing as an 'autism gene' that has been discovered as of yet — meaning that there is no gene constantly mutated in every autistic person. No gene has been found that causes autism each time it is mutated.

Still, the list of genes associated with autism is growing. Researchers have computed about one hundred genes they believe to be strongly linked to ASD. Many of these genes are significant for control of the expression of other genes and communication between neurons.

How do these genes contribute to autism?

Mutations, or changes, in the DNA of such genes, can lead to Autism Spectrum Disorder. Some modifications influence a single DNA base pair. In fact, every human has thousands of these genetic deviants. A variant found in one percent or more of the human population is deemed 'common' and called an SNP or a Single Nucleotide Polymorphism.

Common variants usually have subtle impacts and may work together to cause autism. 'Rare' deviants, discovered in less than 1 percent of the population, tend to have more significant effects. Many of the alterations linked to autism so far have remained rare. It has always been difficult to find standard deviants associated with Autism Spectrum Disorder.

Other changes, known as CNVs or Copy Number Variations, show up as duplications or deletions of long sections of the genome and often comprise many genes.

But variants that contribute to ASD are probably not present all in genes, which make up less than two percent of the DNA. Researchers have tried discovering the remaining 98% of the genome to look for disproportions associated with autism. So far, these areas are inadequately understood.

Are all mutations evenly harmful?

No, they are not. At the molecular level, the impacts of mutations may vary, even among Single Nucleotide Polymorphisms. Conversions can be either non-threatening or harmful, depending on how many cells they impact in the body and how much they modify the corresponding protein's performance. For example, a missense mutation substitutes one amino acid in the protein for another. If the switch doesn't considerably change the protein, it is probably benign. A harmful mutation, on the other hand, incorporates a 'stop' sign within a gene, triggering the protein production to halt prematurely. The resultant protein functions poorly and is too short.

How do people obtain mutations?

Most mutations are hereditary and received from parents, which can be rare or common. Modifications can also occur spontaneously in sperm or an egg and so may be found only in the child and not in the parents. Researchers can locate these erratic 'de Novo mutations by matching the DNA sequences of people who have ASD with the DNA of their unaffected relatives.

Spontaneous mutations that occur after conception are usually known as 'mosaics,' meaning they influence only some of the cells in the human body. The fewer cells these mutations impact, the minor their contributions will be to autism characteristics.

Can genetics explain why girls are less likely than boys to have autism?

It is a possibility. Girls with autism have been discovered to have more mutations than boys with the condition do. And boys with autism at times inherit their mutations from unaltered mothers. Together, these results propose that somehow girls may be unaffected by mutations that add to autism and need a more significant genetic strike to have Autism Spectrum Disorder.

Is there a way to assess for mutations before someone is born?

Clinicians regularly screen the chromosomes of a developing fetus to identify sizeable chromosomal abnormalities, including Copy Number Variations or CNVs. There are prenatal genetic examinations for some syndromes linked with autism, like the fragile X syndrome. But even if a fetus has these rare mutations, there is no sure way to know whether the baby will be diagnosed with ASD later.

Potential ASD support:

Speech therapy. Autism Spectrum Disorder can cause various speech issues. Some autistic individuals might not speak, while others might have problems conversing with people. Speech therapy can assist in addressing a wide range of speech difficulties.

Physical therapy. Some autistic individuals have trouble with agility. This can make basic actions such as walking, running, or jumping difficult. Physical therapy can aid in strengthening muscles and improving these skills.

Occupational therapy. Occupational therapy can assist you in learning how to use your legs, hands, or other body parts more effectively. This can make work and daily tasks easier.

Sensory training. Autistic people are often delicate to touch, sounds, and lights. Sensory activity helps them become more relaxed with sensory input.

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