Autism spectrum disorder

• Autism
• Pervasive developmental disorder, not otherwise specified (PDD-NOS)

• 299 Pervasive developmental disorders
• 299.0 Autistic disorder
• 299.00 Autistic disorder current or active state
• 299.01 Autistic disorder residual state
• 299.9 Unspecified pervasive developmental disorder
• 299.90 Unspecified pervasive developmental disorder current or active state
• 299.91 Unspecified pervasive developmental disorder residual state

• F84.0 Autistic disorder
• F84.9 Pervasive developmental disorder unspecified
• F84.5 Asperger’s syndrome
• F84.8 Other pervasive developmental disorders
• F84.9 Pervasive developmental disorder, unspecified

• 5B: Impaired neuromotor development

Description

• Group of disorders, including pervasive developmental disorder (PDD), autism, and Asperger’s syndrome, each characterized by a variety of features
  • Difficulty with socialization
  • Difficulty with communication
  • Stereotypical movements
  • Developmental delay

Essentials of Diagnosis

• Deficits in socialization
  • Poor or absent eye contact with others
  • Disinterest or difficulty socializing with peers
  • Prefer being alone
  • Difficulty reading social clues
• Deficits in communication
  • Delayed or absent (40%) language
  • Echolalia
• Stereotypical or repetitive movements
  • Ritualistic behavior
  • Inflexible behavior, requires predictable routines
  • Self-stimulation behaviors, such as flapping arms or rocking
• Atypical play or interest in toys or objects
  • Preoccupation with ordinary objects, such as door stop or ceiling fan
  • Obsessively arranges objects, such as blocks

General Considerations

• May also have cognitive deficits (30 to 51%)

Demographics2

• 1 in 100 children
• Males 3 to 4 times more likely than females
• 2 to 8% greater risk if siblings also have ASD

Signs and Symptoms

• Generally apparent by 18 months of age
• One early signs is child’s inability to respond when his or her name is called
• Parents may report infant “does not like them,” as child may not like being held
• Developmental delay (e.g., walking)
• Associated disorders
  • Seizures (25%)2
  • Sleep disorders
  • Gastrointestinal disorders
  • Sensory integration dysfunction
  • Pica

Functional Implications

• Delayed developmental milestones, including
  • Communication
  • Social-emotional skills
  • Gross motor skills
  • Self-care
  • Cognitive
• Lack of age-appropriate safety skills
• Inability to live independently

Possible Contributing Causes

• Primarily idiopathic
• Possible causes include
  • Genetic
  • Familial
  • Viral
  • Immunologic

Differential Diagnosis

• Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) to confirm diagnosis
• Genetic testing may be indicated to rule out
  • Tuberous sclerosis
  • Fragile X syndrome
  • Angelman syndrome
  • Rett syndrome

Medication3

• Antidepressants, SSRIs (Zoloft or Prozac)
• Anticonvulsants to control seizures (Tegretol, Lamictal, Depakote, or Topamax)
• Risperdal
• Antipsychotic medications (Zyprexa or Haldol)

Medical Procedures

• Applied behavior analysis (ABA)
• Gluten-free, casein-free diet

• To child psychiatrist for diagnosis and medication
• To child neurologist for developmental progression
• To geneticist to rule out other syndromes
• To early intervention program
• To speech therapist
• To occupational therapist for functional activities
...