Autism Spectrum Disorder

Overview: Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a condition in which the development of the neuropsychological system results in lasting difficulties with social cues and communication. It may also result in repetitive behaviors and strong focused interests or activities. The name of the disorder has recently been updated to include the word “spectrum,” so as to note that the severity of symptoms can vary significantly between individuals.

In some countries, the term “pervasive developmental disorder” (PDD) is used.

ASD is found in about 1 in 40 to 1 in 500 people and is being increasingly recognized in children.

ASD can result in a varying degree of social and behavioral functional difficulties. Management is customized for each person and focuses on maximizing functioning and improving quality of life.

Symptoms of ASD

There are a variety of symptoms of ASD, with some being more prevalently noticed at certain developmental stages or ages.

The symptoms may be more notable in different settings. In fact, to make the diagnosis, symptoms must be present in multiple settings. In this way, it is helpful to have information and feedback from parents, teachers, healthcare providers, and others.

Early symptoms – more subtle findings are often present within the first two years of life

  • Developmental milestones may not be met, especially such as those that involve social-emotional skills or language skills
  • Social-emotional behaviors such as pointing, making eye contact, sharing emotional connections with others, or responding to name may be lacking
  • Difficulty with taking turns in play or conversation may be prominent
  • Fewer facial expressions or gestures may be present
  • Mimicry – or demonstrating the expressions or activity of others – may be absent

Later symptoms

  • Repetitive or stereotyped behaviors may be developed, such as rocking back and forth, hand-flapping, or spinning objects
  • Focus on routines with inability to be flexible or particular difficulty with change
  • Development of strong special interests that are very specific and in depth
  • Difficulty with language, such as having difficulty with back-and-forth conversation or difficulty with metaphors, sarcasm, or figures of speech
  • Social interactions may be atypical, such as:
    • not showing warm interactions with parents or not turning to parents for assistance
    • not having interest in socializing with others such as friends or not developing friendships
    • not understanding or acknowledging others’ perspectives
    • not being able to infer another person’s feelings, emotions, or intentions. This may be noticed with real world interactions or with books
  • Some people with ASD may have special skills (sometimes termed a “savant”) in a particular cognitive function, such as memory, art, muscle, or mathematics

How is ASD diagnosed?

Typically, a parent, teacher, or primary care provider may have some suspicion for ASD. Primary care providers may note variances with routine developmental or behavioral milestones. A parent or teacher may notice socialization difficulties, language difficulties, or repetitive behaviors. Even while ASD is only questioned but not confirmed, it is recommended to have referrals for early intervention support. In the United States, the public school system offers resources.

In this case, a child should be referred to a specialist for a comprehensive evaluation to assess the diagnosis, rule out other causes of symptoms, assess how severe of functional impairment is present, and develop a treatment plan. This can involve a child neurologist, a psychologist, a child psychiatrist, a developmental-behavioral pediatrician, or public school resources.

The specialist will take a detailed history from the person’s parents, teachers, healthcare professionals, and others to assess for any symptoms that could suggest ASD.

He or she will also screen for other commonly associated conditions including seizure disorders, depression, anxiety, learning disorders, or attention disorders.

ASD can have a genetic component and run in families, so the specialist will evaluate for any family history of ASD, intellectual difficulties, language disorders, ADHD, seizures, obsessive-compulsive disorder, or mood disorders.

The specialist should rule out other syndromes which can cause ASD-like symptoms, including fragile X syndrome, Rett syndrome, Angelman syndrome, tuberous sclerosis complex, Prader-Willi syndrome, or Smith-Lemli-Opitz syndrome. This involves a physical exam and possible other testing.

There are multiple specially developed diagnostic tools for ASD. The specialist should have undergone extensive testing with the chosen diagnostic tool. Common options include the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule-2nd edition (ADOS-2), Childhood Autism Rating Scale 2nd edition (CARS-2), or Gilliam Autism Rating Scale (GARDS).

Additional supplemental testing may be pursued by a speech language pathologist and/or an occupational therapist. Vision and hearing testing should be pursued. Lead poisoning should be ruled out.

If ASD is diagnosed, the next step is to assess severity. Using scales such as the Vineland Adaptive Behavior Scale or the Adaptive Behavior Assessment System, the provider can assess the severity of difficulties with social communication or repetitive/restricted behavior and make recommendations for how much support is needed.

What causes ASD?

The cause of ASD is not fully understood. While it is known that the brain development and neural connectivity is abnormal, the cause is not fully known.

ASD is more common in males than females and is more common amongst siblings or family members of someone with ASD. There are a variety of other genetic conditions with features similar to ASD. These aspects suggest a genetic component. There has been no single gene identified as causing ASD.

 It is thought a person may have a genetic predisposition to ASD and may have some “epigenetic” factors (nongenetic factors that alter gene expression) that lead to activation of genes that contribute to ASD. Suspected epigenetic factors include advanced parental age, toxic exposures, perinatal illnesses, and prenatal infections.

Importantly, there is no scientific evidence to support any association between immunizations (vaccines) and Autism.

What is Asperger syndrome?

Asperger syndrome is a neurodevelopmental disorder that involves difficulty with social interaction and non-verbal speech but causing less impairment in daily life and with normal verbal language and intelligence.

In 2013, this diagnosis was removed as a separate diagnosis and implemented within Autism Spectrum Disorder as a high-functioning autism. This change has been controversial.

Treatments for ASD

ASD is treated with a multidisciplinary team that focuses on empowering a person to address weaknesses and maximize daily function and quality of life. As a child grows, this involves achieving independence. Areas that are focused on include social/play functioning, communication skills (verbal and non-verbal), developing adaptive skills to overcome weaknesses, decrease negative behaviors, and optimize academic and cognitive performance.

It is important that early intensive treatment be instituted as soon as ASD is suspected, as this is thought to influence outcome with communication and functional skills. This can occur in a specialized early intervention program, a school-based program, or by individual practitioners.

The multidisciplinary team may involve a child neurologist, a child psychiatrist, a psychologist or neuropsychologist, a speech language pathologist, an occupational therapist, and/or a social worker. This approach is customized for the individual and should be continuously readdressed.

With the multidisciplinary team, there are two main pillars to treating ASD:

Behavioral and educational interventions are a mainstay. No single therapy has been proven to have the highest efficacy, and they are often layered together.

  • Individualizing educational programming with a high staff to student ratio
  • Utilize teachers with special training and expertise in ASD
  • Ongoing reassessment and adjustment of programming
  • Curriculum that focuses on non-verbal communication, imitation, attention, social interaction, play, regulation of behavior and emotions, and self-advocacy
  • Interventional models that have been specially developed for ASD, such as Discrete trial training (DTT), Pivotal response training (PRT), Early intensive behavioral intervention (EIBI), or Applied Behavior Analysis (ABA)
  • Ensuring that there is consistent structure with predictability
  • Family involvement in management
  • Planning for transitions, such as between school grades, entering the workplace, etc.
  • Intensive volume of programming, often involving at least 25 hours

Medications may be used in some cases of ASD to help with targeted symptoms, such as:

  • Hyperactivity or inattention
  • Anxiety
  • Depressive symptoms
  • Sleep difficulties
  • Physical aggression or self-injury
  • Repetitive or obsessive compulsive behaviors

While there is limited scientific research on complementary or alternative therapies such as the use of supplements or special diets, families sometimes choose to pursue this. This should be discussed with the whole treating team.

What are the public resources in the US for ASD?

The Individuals with Disabilities Education Act (IDEA) ensures that each child with a disability in the US should receive a free and appropriate education.

While each state is in charge of developing policies for carrying out the IDEA, most states specifically provide early intervention services for children with suspected ASD even before entry into preschool or kindergarten.

Once the child does enter school, the public-school system then must create an individualized education program (IEP) that addresses how to optimize a child’s academic program. This is reviewed on a yearly basis or more often.

Recent efforts with health insurance reform have also resulted in most health insurances offering coverage for intensive treatment for ASD.

What is the prognosis for ASD?

There is no cure for ASD, but typically the symptoms of ASD can improve or minimize to decrease disability. Early identification, participation in interventions, and inclusion with general peers have been associated with a more functional outcome.

Further resources

https://www.autismspeaks.org/what-autism#:~:text=Autism%2C%20or%20autism%20spectrum%20disorder,in%20the%20United%20States%20today.

https://www.cdc.gov/ncbddd/autism/facts.html

https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/autism-spectrum-disorder-fact-sheet

https://www.mayoclinic.org/diseases-conditions/autism-spectrum-disorder/symptoms-causes/syc-20352928