Background

1
(No Transcript)
2
(No Transcript)
3
(No Transcript)
4
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.

5
Autistic Brain
6
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

7
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

8
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.

9
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.

10
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.

11
(No Transcript)
12
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

13
DSM-IV ClassificationPervasive Developmental
Disorders
14
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

15
(No Transcript)
16
(No Transcript)
17
(No Transcript)
18
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

19
(No Transcript)
20
ASD Facts Causes

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

21
(No Transcript)
22
What are the earliestsigns of Autism?

• Delays or abnormalities in
• 1 Joint Attention
• 2 Social Interaction
• 3 Play Behavior

23
Typical DevelopmentJoint Attention
24
Typical DevelopmentSocial Interaction
25
Typical DevelopmentPlay Behavior
26
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

27
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

28
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

29
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

30
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

31
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

32
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

33
Autism Assessment18 36 months

• Deficits are more important than the presence of
  specific behaviors

34
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

35
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

36
Sorting out the truth fromautism stereotypes
37
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

38
Autism AssessmentReimbursement

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

39
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

40
0 3 Early Intervention

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

41
Autism Intervention

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

42
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

43
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

44
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

45
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

46
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

47
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

48
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

49
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

50
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

51
(No Transcript)
52
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.

53
(No Transcript)