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Background

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Larger frontal lobes due to excess white matter Corpus Collosum is undersized ... 10% larger hippocampus. This region is responsible for memory. ... – PowerPoint PPT presentation

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Title: Background


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Background
  • Autism is a Pervasive Developmental Disorder that
    results from damage to the central nervous
    system.
  • Characterized by three main behavioral
    dysfunctions
  • 1)impaired social interactions
  • 2) difficulty communicating (verbal and
    non-verbal)
  • 3) repetitive interests.

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Autistic Brain
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An Autistic Brain result or causeof autism?
  • Larger frontal lobes due to excess white matter
    Corpus Collosum is undersized Amygdala is
    enlarged
  • 10 larger hippocampus. This region is
    responsible for memory. ASD patients rely on
    memory to interpret situations
  • Cerebellum is larger also due to excess white
    matter
  • Too many cables within local areas but not enough
    linking different regions

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Genetic Causes
  • Caused by disruptions of the NLGN4 gene on
    chromosome Xp22 thus interrupting essential
    synaptic function
  • Maternally inherited duplications of 15q11-q13
  • Dozens of genes thought to be implicated

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Other Possible Causes
  • vaccine reactions
  • atypical growth in the placenta
  • abnormal tissue in the gut
  • inflamed tissue in the brain
  • food allergies
  • disturbed brain wave synchrony
  • Some clinicians are using genetic test results to
  • recommend unconventional nutritional therapies,
    and others employ drugs to fight viruses and
    quell inflammation.

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Autism is an environmentallytriggered problem.
  • If it is environmental, then it is treatable and
    preventable.
  • It is NOT HOPELESS and lifelong.
  • It is HOPEFUL, with a possible cure.

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Autism isa whole-body problem.
  • Immunological dysregulation with a unique
    inflammatory bowel disease
  • Oxidative stress, systemic inflammation, and
    severely disordered urine and serum chemistries
    including elevated porphyrins
  • Decreased methylation capacity, limited
    transsulfuration and glutathione deficiency
  • Increased toxic body burdens primarily of heavy
    metals esp. mercury and lead
  • Chronic viral, fungal and bacterial infections
  • Central nervous system hypofusion/abnormal
    regulation of blood supply to the brain
    Microglial activation, lipid peroxidation,
    mitochondrial dysfunction, inactive enzyme
    systems.

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What is Autism?
  • Autism is one of a group of disorders known as
    autism spectrum disorder (ASD)
  • ASDs are developmental disabilities that cause
    substantial impairment in three areas of
    dysfunction
  • 1 Qualitative impairment in reciprocal
    communication
  • 2 Impairment of reciprocal social interaction
  • 3 Restrictive range of play and interests
  • 4 Neurodevelopmental disorder with a spectrum of
    clinical conditions

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DSM-IV ClassificationPervasive Developmental
Disorders
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ASD Facts
  • Present at birth
  • Onset of symptoms before 36 months
  • Accurate diagnosis possible at 18-24 months
  • Parents first voice concerns 18 months
  • Diagnosis is typically 3 years or older

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ASD Facts Epidemiology
  • Prevalence between 1166 - 500
  • ASD more prevalent in pediatric population than
    Cancer, Diabetes Downs Syndrome
  • Male to female ratio 4 to 1

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ASD Facts Causes
  • Causation unknown
  • Strong genetic influence
  • Identical twin studies show 75 risk
  • Recurrence risk in siblings 2-8

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What are the earliestsigns of Autism?
  • Delays or abnormalities in
  • 1 Joint Attention
  • 2 Social Interaction
  • 3 Play Behavior

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Typical DevelopmentJoint Attention
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Typical DevelopmentSocial Interaction
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Typical DevelopmentPlay Behavior
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Why screen for autistic spectrum disorders in
primary care?
  • Prevalence is high
  • Condition is serious
  • Effective intervention. There is improved
    outcomes with early and intense interventions
  • Tools now available
  • Parents expect and want it

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Screening Tools
  • What screening tools can do
  • identify children who might have developmental
    delays.
  • Be specific to a disorder or an area be general
  • What screening tools cannot do
  • Give sure evidence of developmental delays
  • Be used to make a diagnosis

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Developmental and SocialEmotional Screening
  • Consider using a standardized parent report tool
    at every well child visit
  • Examples include
  • Parental Evaluation of Developmental Status
  • (PEDS)
  • Ages Stages Questionnaire (ASQ)
  • Ages Stages Questionnaire Social Emotional
  • (ASQSE)
  • Modified CHecklist for Autism in Toddlers
  • (M-CHAT

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Listen to Parents
  • Parents
  • Are aware of the possibility of autism
  • Do have concerns when something is wrong
  • Do give accurate and reliable information about
    their children
  • Need your questions to generate discussion about
    their childs development

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Early RED Flags forAutism
  • No big smiles or other warm, joyful expressions
    by
  • 4-5 months
  • No back-and-forth sharing of sounds by 9 months
  • No babbling at 12 months
  • No back-and-forth gestures, such as pointing,
    reaching, or waving by 12 months
  • No words by 16 months
  • No two word spontaneous meaningful phrases by 24
    months

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Autism- presentingsymptoms
  • Speech delay
  • Expressive skills may appear more advanced than
    receptive
  • Poor eye contact
  • Lack of joint attention-gaze
  • Lack of use of gestures
  • Lack of pretend play
  • Behavioral problems-often appear hyperactive
  • Repetitive behaviors emerge around three years
    old
  • Hand finger mannerisms
  • Abnormal processing and modulation of sensory
    stimuli

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Language Delay
  • Absolute indications for immediate evaluation
  • 9 months No babbling
  • 12 months No pointing or other gestures
  • 16 months No single words
  • 24 months No functional 2-word phrases (not
    echolalic)
  • Any age Any loss of language or social skills

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Autism Assessment18 36 months
  • Deficits are more important than the presence of
    specific behaviors

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Autism Assessment18 36 months
  • Lack of
  • Use of eye contact to regulate social interaction
  • Orienting to name
  • Joint attention behaviors pointing showing
  • Pretend play
  • Imitation
  • Nonverbal communication
  • Language development

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Autism Assessment18 36 months
  • Autism screening tools are not recommended for
    primary care setting
  • At 18-month visit use parent questioning and
    direct observation to assess child for
  • Refer for further evaluation if concerned

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Sorting out the truth fromautism stereotypes
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Autism AssessmentStaff Roles
  • Front office staff
  • Maintain and update referral list
  • Provide information on logistics of referral
  • Allied health professionals
  • Distribute patient education
  • Provide routine feedback
  • Clinical providers
  • Observe childs behavior
  • Listen to parents concerns
  • Advise parents on development and behavior
  • Make referrals

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Autism AssessmentReimbursement
  • Autism assessment with observation and parental
    discussion falls under the general well child
    visit code
  • Implement standardized developmental screening to
    increase reimbursement

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Referrals for children whoshow signs of autism
  • DO NOT DELAY
  • Under 3 years refer to Early Intervention
  • 3 years or above refer to School District
  • For diagnostic confirmation consider
  • Medical Diagnostic
  • Developmental behavioral pediatrician
  • Child psychologist
  • Pediatric neurologist
  • Child psychiatrist

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0 3 Early Intervention
  • Functions
  • Assist in screening/evaluation
  • Determine eligibility
  • Assess needs
  • Plan for services
  • Identify providers

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Autism Intervention
  • Issues to consider when choosing a treatment
    plan
  • Evidence-based
  • Cost
  • Time
  • Family involvement

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3 21Special Education
  • Mandated by federal IDEA legislation
  • Programs managed and vary by school district
  • Make referrals in writing!
  • Individualized Education Plan (IEP) for each
    child
  • Services for children with autism may include
  • Speech therapy
  • Occupational therapy
  • Communication assistance (PECS)
  • Teacher education on classroom management

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Encouraging Next Steps
  • Acknowledge parents fear and grief
  • Provide information on how to tell others
  • Provide parent with information on the referral
    sources
  • Encourage communication
  • Set a follow-up appointment

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Advantage of Early Diagnosis Autism is
treatable Early diagnosis
  • leads to early intervention, results in improved
    outcome for many children with autism.
  • Facilitates educational planning
  • Provides family support and education
  • Early management of family stress and anguish
  • Delivery of appropriate medical care and
    treatment

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Epilepsy and Autism
  • 20-40 of autistic children have an abnormal EEG
  • 30 of all children ultimately develop epilepsy
  • Preschool years
  • Puberty
  • Predictors for epilepsy development
  • Degree of mental handicap (severe)
  • Severity of autism
  • Overt motor deficits (67)
  • Etiology of autism
  • Regression after age 3

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Clinical Presentation
  • Seizure types complex partial seizures are most
    common, /- secondary generalization
  • Suspect if child has intermittent events of
    diminished or lost consciousness lasting seconds
    to a few minutes, is not interruptable during
    these events or is postictally sleepy or very
    confused

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Non-epileptic events
  • History is key to differentiate seizures from
  • autistic behaviors
  • Staring spells can be interrupted by vigorous
    tactile stimulation
  • Ritualistic behavior usually complex movement,
    can interrupt but child often upset, more likely
    if child is anxious, overwhelmed
  • Tantrums provoked by specific situations,
    demands on child, often prolonged (child may be
    tired afterwards), complex behaviors, child
    responds during tantrum

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Role of EEG
  • Often a challenge in autistic children!
  • EEGs are frequently abnormal in children without
    seizures only do if the clinical suspicion is
    high, based on careful history
  • Sleep-deprived recording more likely to
    demonstrate abnormality than routine awake, but
    can be difficult to obtain, unless sedation given
  • Sleep recording essential if CSWS suspected

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Treatment
  • If clinical history very suspicious, even if EEG
    unremarkable, treatment should be considered.
  • Base treatment on seizure type and potential
    adverse effects
  • Use carbamazepine/oxcarbazepine cautiously if EEG
    showing frequent centrotemporal spikes may
    exacerbate condition
  • Caution with clobazam, levetiracetam may worsen
    behavior

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With biomedical treatments,there is hope for
recovery.
  • Leave no stone unturned
  • Address the evidence implicating vaccine
    overload, mercury and aluminum from vaccines
  • When treated biomedically, autistic children get
    better
  • Research and produce successful antioxidant,
    methylation and blood brain barrier chelation
    treatments as well as immune system,
    detoxification and inflammation interventions

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Hundreds of thousands of sickchildren are
silently waiting.
  • Pursue research and treatments that will impact
    the most lives as quickly as possible.
  • Follow clues provided by evidence-based
    treatments.
  • Institute a translational research protocol where
    clinicians who care for children with autism
    advise research into the most promising areas of
    intervention.
  • Act with urgency. Follow the truth where ever it
    leads.

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