Autism 101

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Autism 101

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

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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.

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Is it Autism?
4
Is it Autism?

• Difficulties in the following areas
• Communication
• Social interaction
• Repetitive Behaviors/Restricted Interests

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• 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

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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

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• 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

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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.

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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

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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.
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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.

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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

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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?
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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.

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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.

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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."

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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."

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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

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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

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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

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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

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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

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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

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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

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What we dont know?

• Environmental causes UC Davis Mind Institute and
  others
• Genetics
• Metabolic inflammation, detoxification,
  transulfuration, other pathways
• Double Hit Hypothesis

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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

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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.

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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.

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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

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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

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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.

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Bibliography

• References1 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.

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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