Understanding Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that primarily affects an individual's social interaction, communication abilities, and behavior patterns. Characteristics of this disorder include repetitive behaviors, restricted interests, and heightened sensitivity to the environment. According to statistics from the World Health Organization, approximately 1% of children worldwide are affected, with a significantly higher prevalence in males.

From academic research to social concern, the diagnosis and treatment of Autism Spectrum Disorder have become important topics in modern medicine. In recent years, with advancements in medical research, the understanding of ASD has gradually shifted from viewing it as a "character flaw" to recognizing it as a form of "neurodiversity." However, the challenge of early detection of symptoms and the formulation of individualized support plans remains a common issue faced by families and healthcare teams.

Causes and Risk Factors

Genetic Factors

Genetic studies indicate that the heritability of Autism Spectrum Disorder is as high as 80%, with over 200 genes associated with this disorder. Twin studies have confirmed that if one identical twin is affected, the other has a 70-90% chance of also being affected. Recent findings have also shown a significant association between abnormalities in the chromosome 15q11.2 region and the onset of ASD.

  • Multiple gene interactions: mutations in genes such as SHANK3 and NEUREXIN1
  • Family history impact: the risk increases 10-30 times for first-degree relatives
  • Epigenetic changes: abnormal DNA methylation patterns may affect gene expression

Environmental Factors

Although genetics is a major factor, environmental triggers also play a crucial role. Exposure to certain substances during pregnancy has been shown to increase risk:

  • Maternal infections: bacterial or viral infections during mid-pregnancy (e.g., rubella, cytomegalovirus)
  • Toxin exposure: exposure to pesticides or industrial chemicals by the mother
  • Prematurity and low birth weight: premature infants born before 32 weeks have a 4-fold increased risk

Symptoms

Social Communication Difficulties

Patients often exhibit a lack of response to others' facial expressions during infancy, and may still be unable to engage in simple conversations by age 3. Although they may develop communication methods in adulthood, they often display the following characteristics:

  • Difficulty interpreting others' emotions
  • Delayed development of non-verbal communication (e.g., eye contact, body language)
  • Misunderstanding social norms, such as not understanding polite expressions

Repetitive Behaviors and Special Interests

Patients often exhibit compulsive behavior patterns, such as insisting on walking specific routes or repetitively arranging objects. Special interests may manifest as an intense fascination with specific topics, such as:

  • Advanced understanding of mathematical formulas or maps
  • Obsessive collection of specific items (e.g., blocks, license plates)
  • Extreme resistance to changes in the environment (e.g., changes in lighting brightness)

Diagnosis

Assessment Process

The diagnostic process typically includes three stages: developmental screening, behavioral assessment, and differential diagnosis. The healthcare team will use standardized tools such as the Autism Diagnostic Observation Schedule - Second Edition (ADOS-2), combined with developmental history analysis. Key assessment indicators include:

  • Achievement of developmental milestones in social communication
  • Frequency and severity of repetitive behaviors
  • Abnormal responses in sensory processing (e.g., hypersensitivity or numbness to sounds and touch)

Differential Diagnosis

It is necessary to distinguish ASD from other developmental disorders, such as Rett syndrome and Asperger syndrome. Clinicians will rule out similar symptoms caused by hearing issues, language delays, or pervasive developmental disorders. Diagnostic reports typically include the following elements:

  • Detailed record of developmental history
  • Scores from standardized assessment tools
  • Comprehensive opinions from a multidisciplinary assessment team

Treatment Options

Behavioral Therapy

Applied Behavior Analysis (ABA) is the mainstream therapy that uses positive reinforcement to cultivate social skills. The TEACCH (Treatment and Education of Autistic and Related Communication-Handicapped Children) method utilizes visual prompt systems to help patients organize daily activities. Recently developed "social thinking therapy" focuses on developing the ability to understand others' intentions.

Medication Treatment

Medications are used to address co-occurring symptoms rather than core symptoms. Commonly used medications include:

  • Anti-anxiety medications (e.g., SSRIs) for anxiety symptoms
  • Antipsychotics (e.g., risperidone) to alleviate self-injurious behavior
  • Medications related to Attention Deficit Hyperactivity Disorder (e.g., methylphenidate) to improve attention deficits

Prevention

Currently, there are no definitive prevention methods, but the following measures can reduce risk factors:

  • Regular prenatal check-ups for pregnant women to avoid exposure to environmental toxins
  • Maternal nutritional supplementation: sufficient intake of folic acid (400 micrograms daily)
  • Proper use of fetal monitoring systems

Research has shown that supplementing folic acid in the three months prior to pregnancy can reduce the risk of ASD by 23%. The Environmental Protection Agency recommends avoiding exposure to pesticides and industrial chemicals, especially in early pregnancy.

When to See a Doctor?

If the following early signs appear, a professional evaluation should be conducted as soon as possible:

  • No response to their name by 12 months
  • No development of functional phrases (e.g., "I want water") by 18 months
  • Regression in language skills by 24 months

Other warning signs include: indifference to others' facial expressions, persistent repetition of specific actions for more than 15 minutes, and extreme reactions to sensory stimuli (e.g., panic at noise or lack of visual sensitivity). It is recommended to seek professional evaluation within 6 months of noticing abnormal developmental signs.

 

Frequently Asked Questions

How can I determine if my child needs a professional evaluation?

If a child shows delayed responses to eye contact and body language before 18 months, does not vocalize or use simple phrases before age 2, or exhibits repetitive behaviors (e.g., repeatedly arranging objects), it is advisable to seek medical evaluation as soon as possible. Professional assessments should be conducted through behavioral observation and standardized scales by a pediatrician or child psychiatrist.

How can I help improve my child's social and learning abilities at home?

Parents can provide a sense of security through structured daily routines (e.g., fixed schedules), use visual cards to assist communication, and design short interactive games to train eye contact. For children with shorter attention spans, activities can start from 1-2 minutes, gradually increasing duration, and paired with positive reinforcement to strengthen desired behaviors.

Can diet or supplements improve core symptoms?

Currently, there is a lack of scientific evidence showing that specific diets or supplements can directly improve core symptoms such as social deficits or repetitive behaviors. However, some patients may have gastrointestinal issues that can be improved through a balanced diet planned by a nutritionist. Any supplementary therapies should be consulted with a physician to avoid misuse of unverified treatments.

Is Autism Spectrum Disorder related to parenting styles?

Absolutely not. This condition is caused by neurodevelopmental differences and has no direct causal relationship with parenting or parent-child interaction patterns. Over-attributing to parenting may delay early diagnosis, and scientifically validated intervention methods should be prioritized.

What is the best timing and method for early intervention?

Research indicates that ages 2-6 are critical intervention periods. Combining Applied Behavior Analysis (ABA), speech therapy, and social group training can effectively enhance adaptive functioning. Structured daily training and positive reinforcement methods involving family participation are core strategies for home intervention.

Autism Spectrum Disorder