Autism is a lifelong neurodevelopmental disorder defined by difficulties with social interaction and communication, as well as restrictive and repetitive behaviors. The core features of autism must be present for diagnosis and typically appear during the first two years of life. While the specific causes of autism are unknown, there is strong evidence for a genetic basis. Diagnosis involves comprehensive assessment tools, and early diagnosis allows for earlier intervention leading to improved outcomes. Treatment requires a multidisciplinary approach.

1. Autism
Ivy S. Gementiza, RN

2. OVERVIEW

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.

6. PATHOPHYSIOLOGY
AND ETIOLOGY

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.

9. DIAGNOSIS AND
MANAGEMENT

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

15. Thank You!