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Autism
Ivy S. Gementiza, RN
OVERVIEW
Autism
• A complex neurobiological developmental disorder
  that most typically appears during the first 2 years of
  life
• The diagnosis of autism is based on the display of at
  least 6 out of 12 symptoms in three categories
• The core features of autism must be present for a
  diagnosis to be made
CORE FEATURES
   – Social impairment
   – Verbal and nonverbal communication impairment
   – Characteristic patterns of behavior that tend to be
     repetitive and ritualistic

• Autism is a lifelong disorder defined by the
  individual's interactive difficulties, which can range
  from mild to severely impaired
• 4-5x more common in males than females
• Affected females tend to be more severely impaired
• There is strong evidence to suggest a genetic etiology
• Approximately 75% of people with autism are
  cognitively impaired, with a wide range of potential
  IQ's.
• Autism is seen in approximately 60 - 70 per 10,000
  live births.
PATHOPHYSIOLOGY
AND ETIOLOGY
• A clear cause has not been identified


• However, evidence suggests a genetic predisposition

• Studies have shown that measles, mumps, and
  rubella vaccine do not cause autism.

• Likewise, thimerosal, a preservative found in many
  vaccines, does not cause autism
• .
• Before diagnosis, parents may be initially concerned
  about their infant's social interactions, delayed or
  unusual speech development, and reactions to
  various stimuli (ie, tactile defensiveness)

• Individuals with ASD have neuroanatomical
  differences, including small neuron cell size,
  increased cell packing, relative macrocephaly, and
  large third ventricles.
DIAGNOSIS AND
MANAGEMENT
• Early diagnosis leads to earlier interventions,
  resulting in improved outcomes for these children.

• The two major diagnostic challenges in the
  evaluation of ASD include making the differential
  diagnosis and searching for the etiologic disorder
  associated with ASD (ie, 3% to 5% of children with
  ASD will also have a diagnosis of fragile X syndrome.)
• Comprehensive standardized assessment tools
  specific for ASD usually require specialized training;
  these tools include Childhood Autism Rating Scale
  (CARS), Diagnostic Interview of Social and
  Communication Disorders (DISCO), Autism Diagnostic
  Interview (ADI), and Autism Diagnostic Interview
  Schedule (ADOS)

• Alternative treatments, such as nutrition and vitamin
  therapy, are being investigated but no definitive
  research has been conclusive to date
• Many children with ASD also have psychiatric
  comorbidities with such conditions as obsessive
  compulsive disorder, attention deficit hyperactivity
  disorder (ADHD), depression, mood disorders, and
  Tourette syndrome

• These conditions can be challenging to diagnose as it
  may be difficult to assess the child with
  communication and behavioral problems
• Indeed, health care providers need to be vigilant in
  screening and monitoring for these comorbidities in
  order to appropriately ensure optimal functioning of
  the child with ASD.

• Medical comorbidities are also common in children
  with ASD, such as seizure disorders, sleep
  disturbances, GI disorders, and dental problems
• As with psychiatric comorbidities, health care
  providers need to be vigilant in their assessment as it
  can improve behavior and functioning of the child
  with ASD

• A multidisciplinary team, including primary care
  provider; medical subspecialists; occupational,
  speech, and physical therapists; and educational
  specialist is essential for optimal care
Thank You!

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Autism

  • 3. Autism • A complex neurobiological developmental disorder that most typically appears during the first 2 years of life • The diagnosis of autism is based on the display of at least 6 out of 12 symptoms in three categories • The core features of autism must be present for a diagnosis to be made
  • 4. CORE FEATURES – Social impairment – Verbal and nonverbal communication impairment – Characteristic patterns of behavior that tend to be repetitive and ritualistic • Autism is a lifelong disorder defined by the individual's interactive difficulties, which can range from mild to severely impaired
  • 5. • 4-5x more common in males than females • Affected females tend to be more severely impaired • There is strong evidence to suggest a genetic etiology • Approximately 75% of people with autism are cognitively impaired, with a wide range of potential IQ's. • Autism is seen in approximately 60 - 70 per 10,000 live births.
  • 7. • A clear cause has not been identified • However, evidence suggests a genetic predisposition • Studies have shown that measles, mumps, and rubella vaccine do not cause autism. • Likewise, thimerosal, a preservative found in many vaccines, does not cause autism • .
  • 8. • Before diagnosis, parents may be initially concerned about their infant's social interactions, delayed or unusual speech development, and reactions to various stimuli (ie, tactile defensiveness) • Individuals with ASD have neuroanatomical differences, including small neuron cell size, increased cell packing, relative macrocephaly, and large third ventricles.
  • 10. • Early diagnosis leads to earlier interventions, resulting in improved outcomes for these children. • The two major diagnostic challenges in the evaluation of ASD include making the differential diagnosis and searching for the etiologic disorder associated with ASD (ie, 3% to 5% of children with ASD will also have a diagnosis of fragile X syndrome.)
  • 11. • Comprehensive standardized assessment tools specific for ASD usually require specialized training; these tools include Childhood Autism Rating Scale (CARS), Diagnostic Interview of Social and Communication Disorders (DISCO), Autism Diagnostic Interview (ADI), and Autism Diagnostic Interview Schedule (ADOS) • Alternative treatments, such as nutrition and vitamin therapy, are being investigated but no definitive research has been conclusive to date
  • 12. • Many children with ASD also have psychiatric comorbidities with such conditions as obsessive compulsive disorder, attention deficit hyperactivity disorder (ADHD), depression, mood disorders, and Tourette syndrome • These conditions can be challenging to diagnose as it may be difficult to assess the child with communication and behavioral problems
  • 13. • Indeed, health care providers need to be vigilant in screening and monitoring for these comorbidities in order to appropriately ensure optimal functioning of the child with ASD. • Medical comorbidities are also common in children with ASD, such as seizure disorders, sleep disturbances, GI disorders, and dental problems
  • 14. • As with psychiatric comorbidities, health care providers need to be vigilant in their assessment as it can improve behavior and functioning of the child with ASD • A multidisciplinary team, including primary care provider; medical subspecialists; occupational, speech, and physical therapists; and educational specialist is essential for optimal care