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 Don’t 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 child’s skills in natural contexts across the core impairments of ASD: social, communication, • behavior • 5. Effective interventions recognize and build on children’s 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 don’t 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 • child’s 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 youth’s 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/Autism%20downloads/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.asp#partbCC. • [3]Metropolitan Atlanta Developmental Disabilities Surveillance Program. [cited 2006 Nov]. Available at: http://www.cdc.gov/ncbddd/dd/ddsurv.htm#prev. • [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 1996;55 (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.htm#prev2. [7] Gloeker Ries LA, Percy CL, Bunin GR. Cancer Incidence and Survival among Children and Adolescents: United States SEER Program 1975–1995. National Cancer Institute. [cited 2005 Jan 21]. Available at: http://seer.cancer.gov/publications/childhood. THE ASA Living with Autism Series available on their website