Autism spectrum disorder (ASD) causes developmental concerns such as difficulty with verbal and nonverbal communication and social interactions, sensory processing issues and stereotypic or repetitive behaviors and play. While there is no “cure,” early detection and appropriate therapies may help reduce symptoms and stimulate development and learning.
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What is autism spectrum disorder?
ASD is a complex neurodevelopmental disorder that affects a person's ability to communicate and socialize with others and comprehend and retain information. In short, it poses social and communication challenges and comorbid diagnoses, such as developmental delays, intellectual disabilities, learning disorders and attention-concentration-deficit disorder. About one in 68 children in the United States are affected by ASD, and the prevalence is likely increasing.
ASD occurs when four social regions of the brain — the amygdala, orbitofrontal cortex, temporoparietal cortex and insula — are disrupted.
What causes ASD?
Because numerous genetic and environmental factors contribute to the development of ASD, there is no single cause.
Various genes link to ASD. For example, Rett syndrome is a rare genetic disorder that affects muscle movement, such as repetitive limb jerking and abnormal muscle stiffness, and can be associated with ASD. Genetic mutations lead to higher risks of ASD. For instance, mutations of the UBE3A gene, causing the gene to become hyperactive, lead to abnormal brain development and, potentially, autism. While these are only a couple of examples that connect genetics and ASD, numerous other genetic anomalies give rise to the disorder.
According to health, medicine and scientific discovery media company, STAT, several pregnancy-related factors (considered environmental) contribute to ASD, including:
- Exposure to the anti-epileptic drug valproic acid.
- High levels of air pollution.
- Extreme illness or infection during pregnancy, including severe reactions to bacterial and viral infections.
- Parental age at the time of pregnancy and birth.
- Obesity during pregnancy, premature birth and complications during birth, likely due to interactions with genes.
Scientists believe some environmental-related triggers of ASD may be preventable.
Common symptoms of ASD
Complex disorders are accompanied by numerous symptoms varying in severity. Some children with ASD have learning difficulties, while others display lower-than-average intelligence. Alternately, some children have average to high intelligence and are quick learners; however, they struggle with appropriate skills for social communication, including body language and daily life activities.
Generally, by age 2, symptoms become more prevalent and are presented in two categories: social communication and interaction, and behavioral patterns.
Common signs of social communication and interaction:
- Appears not to hear when spoken to.
- Doesn’t recognize and interpret facial expressions, body postures or voice tones.
- Displays disruptive behavior during social interactions.
- Doesn’t make eye contact or facial expressions.
- Loses the ability to use words or sentences previously spoken.
- Fails to comprehend simple questions or directions.
- Favors playing alone.
- Repeats words or phrases but doesn't know how to use them.
- Resists physical contact.
- Doesn’t show empathy.
Common behavioral patterns:
- Makes repetitive movements.
- Displays repetitive, non-imaginative play.
- Performs actions that could inflict self-harm.
- Becomes anxious or disturbed with slight changes to routines.
- Makes unusual movement patterns, such as walking on toes.
- Displays unusual, stiff or exaggerated body language.
- Displays a low tolerance to light, sound or touch.
- Is unresponsive to temperature or pain.
- Becomes consumed by an object or activity with abnormal intensity or focus.
How is ASD diagnosed?
There are no clinical diagnostic tests, such as bloodwork or imaging, for ASD. To diagnose, clinicians use the child's developmental and behavioral history, make clinical observations and exclude other conditions.
Developmental pediatricians, pediatric neurologists and child psychologists and psychiatrists are highly trained to evaluate, diagnose and treat children with ASD. They first must understand all symptoms pointing to ASD. Then, they perform numerous neurologic tests and developmental motor skills and behavioral tests to rule out other conditions that may be causing symptoms.
“Diagnosing ASD is a collaborative effort,” said Fadiyla Dopwell, M.D., developmental-behavioral pediatrician for Pediatrix® Medical Group. “It requires obtaining information from parents, teachers and childcare providers and a review of records of other specialists, including diagnostic evaluations through the school. Questionnaires and evaluating the child with standardized assessment tools are also part of the diagnostic process. The diagnostic clinician uses the provided information and observations to determine if the child meets the criteria for ASD according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5).”
How is ASD managed?
As with the cause of the disorder, there is no single treatment for ASD. Depending on a child’s unique symptoms, therapeutic options and plans vary.
The most common treatment therapies include:
- Behavior and communication therapies — Reduce problem behaviors by teaching new skills. Teach how to communicate better with others and behave in social settings.
- Educational therapy — Improve social skills, communication and behavior through highly structured educational programs.
- Family therapy — Promote social interaction skills, manage problem behaviors and teach communication and daily living skills through family play and interaction.
- Speech therapy — Improve communication skills, including pragmatics.
- Occupational therapy — Teach activities of daily living.
- Physical therapy — Develop motor skills and improve muscle tone and control.
- Psychology therapy — Address problem behaviors.
Certain medications may help control symptoms, such as hyperactivity, severe behavioral issues and anxiety; however, there isn’t a medication that can improve symptoms of ASD.
“The objective of ASD treatment is to maximize a child’s potential to function by reducing the severity of the symptoms and impact on social interactions and introducing developmental and educational options specific to the child’s unique needs,” said Dr. Dopwell. “Of course, early detection is essential to treatment options and outcomes. As the child’s home environment impacts developmental progress, it is essential to include support for the family who care for children diagnosed with ASD.”
Scientific ASD breakthroughs
Scientists continually search for answers to what causes ASD, how to diagnose it earlier and how to treat it.
A recent study by the Hospital for Sick Children in Toronto, Canada, discovered “genetic wrinkles” in DNA that could explain why some children have ASD. Genetic wrinkles occur when sections of a parent’s DNA get doubled or tripled in their children, which could interfere with gene function. The discovery may unveil the cause in some children with ASD and lead to early detection.
Recent findings from an extensive study by Columbia University Mailman School of Public Health and the Norwegian National Institute of Public Health reveal that gestational inflammation compounds the risk of developing ASD, citing that “the risk of ASD is increased by fetal exposure to inflammation.” Previous studies discovered that maternal fever, influenza and herpesvirus 2 heighten the risk of ASD in the developing baby. Researchers believe these findings may lead to a screening test that could be performed at birth.
Many scientific studies designed to identify causes of ASD have great potential for developing medications that can significantly reduce some ASD symptoms.
“ASD is a complex diagnosis that presents with varying symptoms across a spectrum,” said Dr. Dopwell. “This complexity contributes to the need for ongoing research to help with understanding the cause of ASD and how best to provide care. Each child, his family, her story and the care received is unique to that individual and family, and it makes diagnosing and providing care challenging but special. As a developmental pediatrician, supporting children and their families on each step of their journey is vital in helping them achieve their maximum potential as they live with ASD."
Learn more about the pediatric developmental services offered by Pediatrix Medical Group.