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Autism 101

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Autism 101 Judith Aronson-Ramos, M.D. Developmental & Behavioral Pediatrics of South Florida www.draronsonramos.com Autism Alarm Autism is the fastest-growing ... – PowerPoint PPT presentation

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Title: Autism 101


1
Autism 101
  • Judith Aronson-Ramos, M.D.
  • Developmental Behavioral Pediatrics of South
    Florida
  • www.draronsonramos.com

2
Autism Alarm
  • Autism is the fastest-growing developmental
    disability in the U.S.
  • Over 1.5 million individuals in the United States
    have been diagnosed with autism spectrum
    disorder.
  • The diagnosis rate for autism is rising 10-17
    each year.
  • Males are 4 times more likely than females to be
    diagnosed with autism.
  • The symptoms and characteristics of autism can
    present themselves in a wide variety of
    combinations, from mild to severe.
  • Autism is a spectrum disorder - meaning the
    symptoms can occur in any combination and with
    varying degrees of severity.

3
Is it Autism?
4
Is it Autism?
  • Difficulties in the following areas
  • Communication
  • Social interaction
  • Repetitive Behaviors/Restricted Interests

5
  • Cognitive abilities range from gifted to severely
    challenged.
  • Autism is a Pervasive Developmental Disorder
  • PDDs include PDD-NOS, Autism, Aspergers
    Syndrome, Retts Syndrome, and Childhood
    Disintegrative Disorder

6
DSM IV Criteria
  • THERE IS NO ONE TEST TO DIAGNOSE AUTISM WE BASE
    diagnosis on a combination of history,
    observation, assessment language, motor,
    cognitive skills and ruling out other disorders
    that may mimic autism.
  • The diagnosis can be made by a neurologist,
    developmental pediatrician, child psychiatrist or
    school system team. Some clinicians use tools
    such as the ADOS, CARS, GARS, SRS, SCQ other base
    their diagnosis on history and observation alone.
  • Many ways to diagnose but the diagnostic criteria
    are

7
  • 6 total from 1-3 at least 2 from 1 and 1 each
    from 2 and 3
  • 1. Qualitative Impairment in Social Interaction
    (at least 2)
  • Nonverbal skills eye contact, body posture,
    facial expressions
  • Peer Relationships not developmentally
    appropriate
  • No Spontaneous joint attention
  • No social or emotional reciprocity
  • 2.Qualitative Impairment in Communication
  • Delay or lack of language
  • Poor conversational skills
  • Idiosyncratic language
  • No make believe or imitation
  • 3.Restricted and Repetitive Behaviors, Interests,
    or Activities Preoccupations, Inflexible
    routines, Motor Mannerisms, Parts not the whole

8
How Do We Know?
  • Red Flags No social smile and back and forth
    exchanges with caregivers by 2-3 months.
  • No notice of when caregivers leave or enter a
    room by 6-9 months of age.
  • Not responding to his or her name when called
    once or twice at nine months or later.
  • Lacking in back and forth play with teachers,
    caregivers or other children. We call this skill
    joint attention and it is a critical component of
    engaging with others.
  • No pointing or babbling at nine months or later.
  • No functional words at 15 months or later.
  • Repetitive and non-purposeful play dumping
    toys, lining things up, stacking at the expense
    of creative and imaginative use of objects.
  • Limited or no eye contact.

9
More Signs
  • Repetitive body movements or posturing can be
    hand flapping, finger twisting, spinning,
    rocking, all of these are done to an excessive
    degree.
  • Unable to be redirected at 15 months or later due
    to an intense fixation with an object or
    interest we sometimes call this sticky
    attention.
  • Unable to sit or engage in expected activities
    for age from 12 months on.
  • Prolonged difficulties with separation from
    caregivers, or extreme upset at changes in
    routine.
  • Viewing or inspecting objects from unusual angles
    laying down to look at spinning wheels or
    objects, using peripheral vision, fixating on
    moving objects that are not toys such as fans,
    wheels, washing machines etc. All of these things
    are done to excess not just in an exploratory
    way.
  • Not comprehending instructions, directions, or
    tasks that are clearly age appropriate.
  • For more information on red flags visit
    www.firstsigns.org

10
When Do We Know?
Age of onset before 3 years differential
diagnosis have to rule out metabolic Genetic,
medical, or other causes of behavioral language
or a social delay. There are Red Flags which
alert us to the diagnosis then we use history,
physical Exam, neurologic exam, observation at
preschool/day care or in social and
family Interactions, along with Autism Specific
Diagnostic Tools to make the diagnosis. STAT new
tool for 15 24 months Diagnosis can be made as
early as 15-18 months, or as late as 6-10 years
of age, even adulthood depending upon the
deficits.
11
Genetics and Autism
  • Genetic samples of 3832 individuals from 912
    families with multiple autistic children from the
    AGRE cohort were compared to genetic samples of
    1070 neuro-typical children.
  • Among the study findings were key variants on two
    novel genes, BZRAP1 and MDGA2, thought to be
    important in synaptic function and neurological
    development, respectively.
  • The key variants on these genes were transmitted
    in some, but not all, of the individuals with
    Autism Spectrum Disorders, demonstrating that
    there can be genetic differences seen in
    individuals in families with autism leading
    researchers to believe that multiple variants,
    both common and rare, are acting together to
    cause autism.

12
What we do Know
  • Normal development is altered there are
    differences in brain growth, neuron shape and
    density, neuronal connections and signaling
    molecules
  • Changes in the structure and function of neurons
    autism brain bank.
  • Genetic abnormalities twin studies 75 twin
    concordance if identical, 3 non-identical 3-8
    affected sibling association with genetic
    diseases-Fragile X, Tuberous Sclerosis, PKU etc
  • Double Hit Hypothesis genes and the
    environment.
  • Abnormalities in signaling molecules such as
    Neurotrophin, Reelin, PTEN and Hepatocyte growth
    factor, neurotransmitters such as serotonin and
    glutamate, and synaptic proteins such as
    Neurexin, SHANK and Neuroligin.
  • Theories regarding oxidative stress,
    neuroimmunity, and neuorglial activation.
  • Latest Genetic Research 27 gene regions
    involved-BSRAP1, MDGA2

13
What We Dont Know
Are Autistic Traits found in the general
population and Autism Spectrum Disorders are an
imbalance of these traits? Is it genetic,
environmental, an interplay of both? We know
there are different types of autism, are there
different causes? What are the unknown metabolic
factors that may worsen or improve ASD? Where are
all the adults with ASD? The hidden hoard? Are we
investing enough resources in care for the adult
population with ASD? Can we predict which
children will progress and develop greater
skills?
14
New Theories Autistic Traits are Common
  • MANY CHILDREN HAVE MILD AUTISTIC "SYMPTOMS"
    WITHOUT EVER HAVING ENOUGH PROBLEMS TO ATTRACT
    SPECIALIST ATTENTION, SAY UK RESEARCHERS.
  • THE INSTITUTE OF CHILD HEALTH TEAM SAYS DIAGNOSED
    CHILDREN HAVE SEVERE VERSIONS OF CHARACTER TRAITS
    PROBABLY SHARED BY MILLIONS OF OTHERS.
  • THE 8,000 CHILD STUDY FOUND EVEN THESE MILD
    TRAITS COULD IMPAIR DEVELOPMENT.
  • BOYS - WERE MOST LIKELY TO BE AFFECTED, THE US
    JOURNAL STUDY FOUND.
  • SCIENTISTS HAVE UNDERSTOOD FOR SOME TIME THAT THE
    "AUTISTIC SPECTRUM" COVERS A WIDE RANGE OF
    CHILDREN.
  • HOWEVER, A RELATIVELY SMALL NUMBER OF CHILDREN -
    APPROXIMATELY 116 PER 10,000 - ARE SAID TO HAVE
    AN AUTISTIC DISORDER.

15
The Autism Continum
  • THE UK RESEARCH, PUBLISHED IN THE JAACAP PROVIDES
    FURTHER EVIDENCE THAT THE SAME TRAITS DO NOT
    BEGIN AND END THERE, BUT CONTINUE AT INTO THE
    WHOLE POPULATION OF CHILDREN, JUST AT A LEVEL
    WHICH DOES NOT LEAD PARENTS TO SEEK MEDICAL HELP.
  • SEEING AUTISM AS A "DISTINCT ILLNESS" WAS
    PROBABLY WRONG, THEY SAID.
  • EVEN AT THIS MILD LEVEL, THESE CHARACTERISTICS -
    PARTICULARLY PROBLEMS COMMUNICATING WITH PEERS
    AND TEACHERS - CAN BE A DISADVANTAGE.
  • THE FINDINGS CONFIRMED THAT IQ WAS NOT AN ISSUE -
    THE TRAITS COULD BE PRESENT REGARDLESS OF LEVELS
    OF INTELLIGENCE.
  • HOWEVER, IT CAST SOME LIGHT ON THE DIFFERENTIAL
    IN THE NUMBERS OF BOYS AND GIRLS DIAGNOSED WITH
    AUTISM.
  • GIRLS WITH AUTISTIC TRAITS APPEARED TO BE ABLE TO
    COMPENSATE FOR SOCIAL COMMUNICATION PROBLEMS IF
    THEY HAD SUFFICIENT "VERBAL IQ"
  • HOWEVER, EVEN BOYS WITH HIGH "VERBAL IQ" SEEMED
    LESS ABLE TO OVERCOME THEIR COMMUNICATION
    PROBLEMS.

16
Continum Continued
  • PROFESSOR DAVID SKUSE, ONE OF THE RESEARCHERS
    INVOLVED, SAID THE RESULTS DID NOT DOWNPLAY THE
    GENUINE IMPACT OF MORE SEVERE AUTISM.
  • HOWEVER, HE ADDED "WHAT THIS DOES SUGGEST IS
    THAT DRAWING A DIVIDING LINE BETWEEN THOSE WITH
    AUTISM AND THE REST OF THE POPULATION INVOLVES
    TAKING AN ARBITRARY DECISION."
  • "CLINICIANS AND THOSE INVOLVED IN EDUCATION NEED
    TO AWARE THAT THERE ARE CHILDREN WHO DO NOT HAVE
    AUTISM BUT WHO NEVERTHELESS HAVE SOMEWHAT
    ELEVATED LEVELS OF AUTISTIC TRAITS - OUR RESEARCH
    SUGGESTS THAT THESE CHILDREN ARE AT SLIGHTLY
    GREATER RISK OF DEVELOPING BEHAVIOURAL AND
    EMOTIONAL PROBLEMS."

17
Autism as a Continum
  • IN AN ACCOMPANYING EDITORIAL, PROFESSOR JOHN
    CONSTANTINO, FROM WASHINGTON UNIVERSITY, SAID
    THAT THE IDEA THAT AUTISM REPRESENTED THE "SEVERE
    END" OF A NATURAL DISTRIBUTION OF ABILITIES COULD
    HELP SCIENTISTS LOOKING FOR THE GENETICS
    UNDERLYING THE CONDITION, OR FOR WAYS TO TREAT
    IT.
  • IT COULD ALSO HELP THE DEVELOPMENT OF CHILDREN
    WHO WERE AFFECTED, BUT NOT TO THE LEVEL OF AN
    AUTISM DIAGNOSIS.
  • HE WROTE "THE APPROACH OF TEACHERS AND FAMILY
    MEMBERS TO SUCH CHILDREN CAN VARY DRAMATICALLY ON
    THE BASIS OF THE PERCEIVED ORIGINS OF THE
    BEHAVIOUR, AND RECOGNITION OF THE CONTRIBUTION OF
    SUBTHRESHOLD AUTISTIC IMPAIRMENTS CAN RESULT IN
    FAR MORE APPROPRIATE AND SUPPORTIVE RESPONSES
    THAN TYPICALLY OCCUR WHEN ANTISOCIAL MOTIVES ARE
    PRESUMED."

18
What Should We Do
  • Maximize therapies behavioral, language based,
    social and educational
  • Specialized instruction in the context of an ABA
    program, developmental preschool, at home tutors,
    floor time, RDI, and other relationship based
    approaches
  • Social Skill training
  • Health and Immune System maintenance
  • Family Support and Stress Relief
  • Exposure to novel therapies and treatments should
    be supplementary to the core treatments and not a
    replacement for them

19
What Can we Do? Principals of Treatment
  • 1. The family is the expert on the child
    successful intervention is achieved through
    parent-professional partnerships
  • 2. Families require current information regarding
    best-practice to support their understanding of
    ASD, and to promote positive interactions with
  • their child
  • 3. Families require support and training to apply
    new knowledge and skills
  • 4. Effective interventions aim to develop the
    childs skills in natural contexts across the
    core impairments of ASD social, communication,
  • behavior
  • 5. Effective interventions recognize and build on
    childrens strengths

20
Principals of Treatment
  • 6. Communication and behavior are approached
    simultaneously through functional analysis and
    positive behavior strategies
  • 7. Effective interventions must be easily used by
    family members, able to be integrated into daily
    family routines, and be compatible with
  • family beliefs
  • 8. Effective interventions should take place
    within naturally occurring events and routines
  • 9. Effective interventions develop communication
    skills within motivating, social contexts, and
    consider child preferences
  • 10. The child and their family function within a
    community, which may also require support to
    promote positive outcomes

21
Individualized Treatment
  • There are a number of options for treating autism
    and the optimal treatment option depends on the
    individual in question.
  • Although this list is by no means exhaustive, the
    treatment options can be grouped into the
    following categories

22
Therapies
  • Behavior therapy in all its variants which
    focuses on skills and meaningful communication
  • ST, OT, PT individual and groups
  • Interpersonal, Relationship and Play based
    Therapies to promote Engagement-floor time, RDI,
    DIR
  • Individualized instruction at home or school
    can be with tutors, special instructors, ABA
    therapists, speech or ot
  • IT MAY BE THE INTENSITY IF THE THERAPY MORE THAN
    THE SPECIFIC THERAY
  • Diet/Supplements/Bio-medical Treatments
  • Web based www.rethinkautism.com
  • Association for Science in the Treatment of
    Autism www.asat.com newsletter

23
What May Be Too Risky
  • Biomedical treatments without sufficient evidence
    HBOT, Chelation, IV infusions, plasmapheresis,
    stem cell transplants
  • Refer to ASAT www.asatonline.com,
    www.autismspeaks.org

24
Great Expectations
  • Improvements can be variable
  • Language by age 5yrs carries a better prognosis
  • Willingness to change approaches if not getting
    improvement balanced with need to stick with
    therapy plans to see results
  • Some children will be mainstreamed with supports
    some will not, some will be close to
    indistinguishable from peers some will need
    residential placement
  • The long haul perspective and avoiding temptation
    of a quick fix is the best approach

25
What we dont know?
  • Environmental causes UC Davis Mind Institute and
    others
  • Genetics
  • Metabolic inflammation, detoxification,
    transulfuration, other pathways
  • Double Hit Hypothesis

26
Where to go for help?
  • Local Resources
  • CARD Center for Autism and Related Disabilities
    at FAU
  • -297-3052 www.coe.fau.edu/card
  • Early Steps 561-881-2822
  • Child Find 561 -
  • National Resources
  • www.autismspeaks.org
  • www.autismsocietyofamerica.org
  • www.asatonline.org

27
Useful Websites
  • www.autismresearchnetwork.org Comprehensive
    review of Autism research efforts.
  • www.oar.org The Organization for Autism
    Research dedicated to the dissemination of
    applied research and evidence based information
    about autism.
  • www.asatonline.org The Association for Science
    in Autism Treatment a website dedicated to
    sharing information about the evidence supporting
    different treatments for autism.
  • www.ianproject.org - Interactive autism research
    website for parents and clinicians.
  • www.autism-society.org Official website of the
    Autism Society of America.
  • www.firstsigns.org Focus on early diagnosis and
    intervention for Autism.
  • www.autismlink.com Nationwide listing of Autism
    resources.
  • www.udel.edu/bkirby/asperger/ - Online Aspergers
    Syndrome Information and Support. (O.A.S.I.S.)
  • www.nichd.nih.gov/autism/ - National Institute of
    Health website.
  • www.maapservices.org Information for
    individuals and families with high functioning
    Autism, PDD-NOS and Aspergers Syndrome.
  • www.umcard.org Main website for The Center for
    Autism and Related Disabilities (CARD) serving
    Dade and Broward counties.

28
Adult planning
  • When should we start planning for the transition?
  • The Individuals With Disabilities Education Act
    requires a
  • childs Individualized Education Program (IEP) to
    include
  • a transition plan by age 16 years. Families are
    strongly
  • encouraged to start planning and setting
    long-term goals
  • when the child is 14 years old.
  • What are some areas of our youths life that
  • should be included in a transition plan?
  • A plan for transition should include goals for
    your youth as
  • he becomes an adult. Be sure to get input from
    your youth
  • on his desires and goals. The plan should address
    health care,
  • employment options, community participation, and
    continuing
  • education. Also consider social situations
    (friends, hobbies,
  • interests) financial planning long-term care
    community,
  • state, and federal resources and sibling support.

29
Adult planning continued
  • How do we get started with planning?
  • Write a list of questions to discuss with
    everyone involved in the transitions
  • Keep in mind the following
  • What does your youth like to do? What are his/her
    dreams?
  • What can your youth do? What are his/her
    strengths?
  • What does your youth need to learn to reach
    his/her goals?
  • What are some future education goals?
  • How do you and your youth feel about getting a
    job?
  • Where can your youth go to find a job in your
    community?
  • Transportation, Communication, Health Insurance

30
Adult planning continued
  • The answers to these questions will help you form
    goals which will lead you in putting together
    action steps to help your youth develop the
    skills she needs to enter the adult world.
  • What are some developmental issues
  • we should consider?
  • Think about his/her learning skills and style.
    This is important when planning for independence
    and employment.
  • Examples sensory issues, communication skills,
    frustration tolerance, stamina

31
Adult Planning Continued
  • What should we know to get ready for educational
    transition?
  • If your child has an IEP, plans for transition
    will be added to it these plans generally begin
    at 14 years of age.
  • This transition plan will identify the services
    that your teen
  • needs to prepare for life after school.
  • Job skills training may be provided to help your
    young adult get ready for employment.
  • The school system may work with other agencies
    such as Vocational Rehabilitation Services to
    give the support your teen requires.
  • Some teens do not get special education services
    and instead have a 504 plan. If so, you will want
    to think about adding some supports that will
    help your teen develop skills for adulthood.

32
Bibliography
  • References 1 American Academy of Pediatrics,
    The National Center of Medical Home Initiatives
    for Children with Special Needs
    http//www.medicalhomeinfo.org/health/Autism20dow
    nloads/AutismAlarm.pdf
  • 2 Individuals with Disabilities Education Act
    (IDEA) Data. Number of children served under IDEA
    Part B by disability and age group, 2006. cited
    Jan 2008. Available at https//www.ideadata.org/
    arc_toc8.asppartbCC.
  • 3Metropolitan Atlanta Developmental
    Disabilities Surveillance Program. cited 2006
    Nov. Available at http//www.cdc.gov/ncbddd/dd/d
    dsurv.htmprev.
  • 4 Karapurkar Bhasin T, Brocksen S, Nonkin
    Avchen R, Van Naarden Brau, K. Prevalence of four
    developmental disabilities among children aged 8
    years - The Metropolitan Atlanta Developmental
    Disabilities Surveillance Program, 1996 and 2000.
    MMWR Morbidity and Mortality Weekly Reports
    199655 (SS01)1-9.

33
5 National Center on Birth Defects and
Developmental Disabilities. Key Findings from
Recent Birth Defects and Pediatric Genetics
Branch Projects. cited 2006 Nov. Available at
http//www.cdc.gov/ncbddd/bd/ds.htm. 6
National Center for Chronic Disease Prevention
and Health Promotion. National Diabetes Fact
Sheet. cited 2006 Nov. Available at
http//www.cdc.gov/diabetes/pubs/estimates.htmpre
v2. 7 Gloeker Ries LA, Percy CL, Bunin GR.
Cancer Incidence and Survival among Children and
Adolescents United States SEER Program
19751995. National Cancer Institute. cited 2005
Jan 21. Available at http//seer.cancer.gov/publ
ications/childhood. THE ASA Living with Autism
Series available on their website
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