Autism spectrum disorder

Disease Description (Causes and Symptoms)

• Definition summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that begins in childhood and is characterized by difficulties with social interaction and communication, as well as restricted and repetitive behaviors and interests. Developmental differences are usually observed before 3 years of age.
• Causes and pathophysiology: There is no single confirmed cause. Prenatal, perinatal, and postnatal risk factors act in combination with neurobiological mechanisms thought to involve abnormalities in brain development, including genetic factors and neuroanatomical, physiological, and metabolic abnormalities.
• Main symptoms:
  • Difficulties with social interaction (reduced eye contact, facial expressions, and gestures; limited peer relationships)
  • Communication difficulties (delayed language development; difficulty initiating and maintaining conversations)
  • Restricted and repetitive behaviors and intense preoccupations (preoccupation with specific objects or activities; stereotyped movements)
  • Sensory-processing problems, such as hypersensitivity or hyposensitivity
• Comorbid conditions: Intellectual disability, attention-deficit/hyperactivity disorder (ADHD), anxiety and depression, seizures (epilepsy), etc.

Treatment Methods

• Treatment goals: Promote social, language, and cognitive development, reduce problematic behaviors, and improve independent-living skills — early intervention is important.
• Nonpharmacological treatment (foundational treatment):
  • Early intervention programs (individualized treatment plans): ABA (applied behavior analysis), developmental and relationship-based interventions
  • Speech therapy (improving communication), occupational therapy (sensory integration and self-care skills), and social skills training
  • Special education and school-based support, parent education, and family counseling
  • Behavioral therapy (assessment of problematic behaviors and functional behavioral treatment)
• Pharmacological treatment:
  • Indications: These treatments do not fully treat the core symptoms (social skills and communication). They are used to relieve symptoms of accompanying or function-impairing problematic behaviors, such as severe hyperactivity, self-injury, aggression, or severe irritability.
  • Examples of medications used: Antipsychotics (risperidone and aripiprazole — in some cases approved for reducing irritability/aggression), psychostimulants or atomoxetine when ADHD is comorbid, SSRIs (selective use) for anxiety or obsessive-compulsive symptoms, and melatonin for sleep disorders.
  • The specialist determines the choice and dosage of medication based on age, comorbid conditions, and symptoms.
• Other management:
  • A multidisciplinary team approach is recommended (child psychiatry, pediatrics, neurology, speech therapists, occupational therapists, special-education teachers, etc.).
  • Manage family stress and connect the family with educational and welfare services.
• Precautions / risk of complications / self-management:
  • Monitoring for medication side effects, such as metabolic abnormalities, weight gain, and sedation, is necessary.
  • Seizures, self-injury, and severe eating or sleep problems require prompt evaluation and management.
  • Structured environments, predictable routines, and visual supports (such as schedules) in daily life can help manage symptoms.
  • Because a chronic course is common, long-term educational and social support plans are needed.

Checklist Before an Outpatient Visit (What to Bring and Interview Preparation)

• What to bring:
  • A list of currently used medications (medication name, dosage, and administration time)
  • A summary of past medical history and family history (particularly developmental, psychiatric, and neurological conditions)
  • Results of previous tests (genetic tests, brain imaging, electroencephalography, cognitive and developmental assessment reports)
  • Evaluation reports from school or childcare institutions, or teachers' observation records
  • A diary recording changes in symptoms (when behaviors began, their frequency, and triggers), and short videos of problematic situations (for the purpose of observing the child's behavior)
  • Growth records (weight and height), and records of sleep and eating patterns
• Interview preparation:
  • A timeline of developmental milestones (when language began, when the child started walking, and when social responses emerged)
  • Examples of major problematic behaviors (when and where they occur and how often)
  • A summary of treatment goals (changes expected by the parents and family)

Examples of General Questions to Ask the Doctor

• "What benefits can we expect from this treatment (or recommended intervention), and when are they expected to appear?"
• "What are the possible side effects of this medication, and what is the monitoring plan?"
• "What specific training or management methods can we (or the caregiver) use at home?"
• "What factors determine the long-term prognosis?"

Examples of Condition-Specific Questions

• "What speech therapy goals should be set for the child's delayed language development, and how often should the child receive therapy?"
• "The problematic behaviors (self-injury/severe aggression) are severe. What are the criteria for starting medication, and what possible alternative nonpharmacological interventions are available?"

(Note: Obtaining a developmental history and clinical observation are central to diagnosis. If necessary, tests such as chromosome testing, gene panels, metabolic testing, electroencephalography, and brain MRI may be performed concurrently. Consult the treating medical team to develop an individualized plan for specific diagnosis and treatment.)