2011 Latest Findings in Autism


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This presentation is a Grand Rounds for the Dept. of Pediatrics at Mt. Sinai Hospital in Chicago. Presented by child psychiatrist, Daniel B. Martinez, M.D. February 9, 2011

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2011 Latest Findings in Autism

  1. 1. Updates in Autistic Disorder Daniel B. Martinez, M.D. Babatunde Idowu Ogundipe, M.D., M.P.H Comprehensive Clinical Services, P.C. February 9th, 2011
  2. 2. OBJECTIVES: <ul><li>Objective 1:   Learn the past and current trends of the etiology of Autism </li></ul><ul><li>Objective 2:    Learn the available science for diagnosing Autism </li></ul><ul><li>Objective 3:    Learn about treatment, support and advocacy for those with Autism   </li></ul>
  3. 3. PDD <ul><li>Autistic Disorder </li></ul><ul><li>Rett’s Disorder </li></ul><ul><li>Childhood Disintegrative Disorder </li></ul><ul><li>Asperger’s Disorder </li></ul><ul><li>Pervasive Developmental Disorder Not Otherwise Specified (Including Atypical Autism) </li></ul>
  4. 4. History <ul><li>Hans Asperger Leo Kanner </li></ul><ul><li>1943 </li></ul>
  5. 5. 299.00 Autistic Disorder <ul><li>A. Six or more items from 1,2, and 3. </li></ul><ul><ul><li>At least two from 1 (social problems) </li></ul></ul><ul><ul><li>At least one from 2 (communication prob.) </li></ul></ul><ul><ul><li>At least one from 3 (repet/stereotypies) </li></ul></ul><ul><li>B. Delay prior to 3years in at least one area. </li></ul><ul><ul><li>Social interaction </li></ul></ul><ul><ul><li>Communication </li></ul></ul><ul><ul><li>Symbolic or imaginative play </li></ul></ul>
  6. 6. 1 Social Problems (need 2) <ul><li>Problems with non-verbal behaviors. (e.g. eye-contact, body posture, gestures) </li></ul><ul><li>Problems developing peer relationships. </li></ul><ul><li>Problems sharing enjoyment. (e.g. pointing, bringing, showing objects) </li></ul><ul><li>Problems with social or emotional reciprocity. </li></ul><ul><li>(NRSE) </li></ul>
  7. 7. 2 Communication Problem (need 1) <ul><li>Problems with spoken and unspoken language. </li></ul><ul><li>Problems sustaining or initiating conversations. </li></ul><ul><li>Stereotyped or repetitive language. </li></ul><ul><li>Problems with make-believe play. </li></ul><ul><li>(LCSP) </li></ul>
  8. 8. 3 Repetitive or Stereotyped Patterns of Behavior (need 1) <ul><li>Preoccupation with interest of abnormal intensity or focus. </li></ul><ul><li>Rituals and routines </li></ul><ul><li>Motor mannerisms </li></ul><ul><li>Preoccupation with parts of objects. </li></ul><ul><li>(PRIM) </li></ul>
  9. 9. The epidemiology of PDD <ul><li>Autism 1 per 1,000 </li></ul><ul><li>Rett’s 1 per 10,000 </li></ul><ul><li>CDD 1 per 10,000 </li></ul><ul><li>Asperger’s 1 per 1,000 </li></ul><ul><li>Tanguay, P.E. (2000). Pervasive Developmental Disorders: A 10-Year Review. J. Am. Acad. Child and Adolesc. Psychiatry, 39:9 </li></ul>
  10. 10. Epidemiology <ul><li>A recently published government survey has shown that since 2003 the prevalence of autism spectrum disorders(ASD) has nearly doubled. </li></ul><ul><li>The study “Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007” published in the October 5 issue of Pediatrics 2009, estimated the prevalence of ASD to be about one in every 91 children(673,000) . This was significant increase from the previous 2003 estimate of one in 150. </li></ul><ul><li>Estimates based on data from telephone survey of parents in 2007 National Survey of Children’s Health , which included 78,037 children between 3 & 17 years of age. </li></ul>
  11. 11. Etiology and Pathogenesis <ul><li>Only Rett’s has a marker: MeCP2 </li></ul><ul><li>Increase EEG abnormalities (Golden, 1987) </li></ul><ul><li>Increased risk for seizures (Rutter, 1970) </li></ul><ul><li>Increased incidence of </li></ul><ul><ul><li>Tuberous sclerosis </li></ul></ul><ul><ul><li>PKU </li></ul></ul><ul><ul><li>Fragile X </li></ul></ul><ul><ul><li>Decreased incidence with Down Syndrome </li></ul></ul><ul><ul><li>(Cohen, 1994) </li></ul></ul>
  12. 12. Twin Studies <ul><li>100% concordance with Rett’s monozygotes </li></ul><ul><li>91% concordance for Autism monozygotes </li></ul>
  13. 13. Neuroimaging and Brain Studies <ul><li>Autistics have larger brain volume </li></ul><ul><li>MRI shows no brain abnormalities in autism. </li></ul><ul><li>Reports of abnormalities have not been confirmed. </li></ul>
  14. 14. Etiology of Autism <ul><li>We know little of the cause(s) of autism. </li></ul><ul><li>In 1995, Dr Andrew Wakefield , British academic gastroenterologist & surgeon with special interest in inflammatory diseases (He discovered that Crohn’s disease was caused by decreased blood flow to the intestines), was approached by group of parents claiming that their children had become autistic following the MMR vaccine. </li></ul><ul><li>Wakefield was willing to look into this. His theory was: measles vaccine  intestinal inflammation  “leaky gut syndrome”  harmful proteins can affect brain  Autism. </li></ul>
  15. 15. Etiology of Autism <ul><li>In 1998, Wakefield & a group of colleagues published a research study in the British medical journal, The Lancet, which linked inflammatory bowel symptoms in 12 autistic children to the Measles-Mumps-Rubella vaccine. </li></ul><ul><li>This study launched a massive anti-vaccine movement in the UK, the United States, & around the world. </li></ul><ul><li>This gave way to unreasoned demands for single vaccines, eroded public faith in the MMR vaccine  falls in its uptake &outbreaks of measles in the UK. </li></ul><ul><li>Investigation of Wakefield found conflicts of interest & instances of ethical misconduct. When these surfaced 10 of Wakefields original 12 co-authors renounced the studies conclusions. </li></ul><ul><li>In February 2010, the Lancet officially revoked the publication of the article due to ethical concerns. </li></ul>
  16. 16. Etiology of Autism <ul><li>More than 20 peer-reviewed epidemiologic studies have shown no link between MMR & autism. </li></ul><ul><li>Despite this movement continues to point to vaccines as theoretical cause of increase in autism spectrum diagnoses. </li></ul><ul><li>Millions of $ into “green vaccine” movements in US & UK. </li></ul><ul><li>What we do know: </li></ul><ul><li>Functional brain-imaging studies show underactivation in areas associated with planning & control of complex actions, & in areas linked with processing socioemotional information. </li></ul>
  17. 17. Etiology of Autism <ul><li>What we do know: </li></ul><ul><li>Brain nuerotransmitter abnormalities reported. </li></ul><ul><li>A genetic component to autism spectrum disorders established & search for autism-susceptibility gene underway. </li></ul><ul><li>More research needed on: </li></ul><ul><li>Environmental triggers such as infections, prenatal exposure to drugs, perinatal complications, & diet. </li></ul><ul><li>Developmental abnormalities. </li></ul><ul><li>Treatments. </li></ul>
  18. 18. Treatment <ul><li>Risperidone (Risperdal) was approved by FDA october 6, 2006 for the symptomatic treatment of irritability in autistic children + adolescents ages 5-16. </li></ul><ul><li>First approval for drug to be used in treatment behaviors associated with autism. </li></ul><ul><li>Irritability includes: agression, deliberate self-injury & temper tantrums. </li></ul><ul><li>Approved since 1993 for short-term treatment adults with schizophrenia, & since 2003 for short-term treatment adults with acute manic or mixed episodes associated with extreme mood swings. </li></ul><ul><li>Most common side effects: drowsiness, constipation, fatigue, & weight gain. </li></ul>
  19. 19. Treatment <ul><li>Atypical antipsychotic, Abilify (Aripiprazole) oral formulation was approved November 24, 2009 by the FDA for the treatment of irritability associated with ASD in children aged 6-17 years. </li></ul><ul><li>Data based on two 8 week, randomized, placebo-controlled multicenter studies evaluating its efficacy for improving mean scores on the Caregiver-rated Irritability subscale of the Aberrant Behavior Checklist (ABC-I). </li></ul>
  20. 20. Treatment <ul><li>Social Skills Training </li></ul><ul><li>Behavioral Therapy </li></ul><ul><li>Facilitaed communication (not proven) </li></ul><ul><li>B6 and Magnesium (not proven) </li></ul><ul><li>Pharmacotherapies </li></ul><ul><ul><li>Used as one would with nonautistics </li></ul></ul>
  21. 21. Adults & Autism Spectrum Disorder <ul><li>Some with high functioning Autism or Asperger Syndrome able to work successfully in mainstream jobs . </li></ul><ul><li>Some capable of employment in sheltered workshops under supervision managers trained in working with people with disabilities. </li></ul><ul><li>Require nurturing environment at home, at school, in job training , & at work to continue to learn & develop throughout their lives. </li></ul><ul><li>At age 22 public schools responsibility ends for providing services to ASD people. </li></ul>
  22. 22. <ul><li>discoverccs.org </li></ul>
  23. 23. References <ul><li>Pictures: </li></ul><ul><li>myautisminsights.com </li></ul><ul><li>autismeweb.nl </li></ul><ul><li>nimh.nih.gov </li></ul><ul><li>stgabss.net </li></ul><ul><li>ucedd.uoregon.edu </li></ul><ul><li>islandcrisis.net </li></ul><ul><li>retiredrambler.typepad.com </li></ul><ul><li>people.com </li></ul><ul><li>briandeer.com </li></ul><ul><li>buckeyepsych.wordpress.com </li></ul><ul><li>the-risperdal-lawyer.com </li></ul><ul><li>guardian.co.uk </li></ul><ul><li>Texts: </li></ul><ul><li>Kogan MD, Blumberg SJ, Schieve LA, et al.Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disoreder Among Children in the US, 2007. Pediatric. 2009; </li></ul><ul><li>Autism Spectrum Disorders (Pervasive Developmental Disorders). A detailed book that describes Autism symptoms, causes, & treatments, with informationon getting help and coping. </li></ul><ul><li>http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/2006/ucm108759.htm </li></ul><ul><li>http://www.medscape.com/viewarticle/713006 </li></ul><ul><li>www.healthnews.com/family-health/child-health/prevalence-autism-estimated-more-than-1-all-children-3744.html prevalence of autism estimated at more than </li></ul><ul><li>http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(02)07826-1/fulltext </li></ul><ul><li>http://autism.about.com/ </li></ul>