Autism: What the Physician Assistant Needs to Know

1. Autism: What the Physician Assistant Needs to Know Jennie Plocica Advisor: Dr. Gairola

2. What is autism? • Autism is also known as: • Autistic Spectrum Disorders (ASD) • Pervasive Developmental Disorders (PDD) • It is a developmental disability. • Part of a group of similar disorders: • Autism is the most severe form • Asperger’s syndrome is the mildest form • Pervasive developmental disorder not otherwise specified (PDD-NOS) is in between the two • Rett syndrome and Childhood Disintegrative Disorder

3. Epidemiology • Prevalence: estimated to be 1 of 500 to 1 in 1,000 in the United States • Autism is the third most common developmental disability – more common than Down syndrome • Effects males four times more commonly than females

4. Background/History • Early on considered to be a form of childhood schizophrenia • Dr. Leo Kanner identified autism as its own entity in 1943 from a study of 11 children at John Hopkins Hospital • Misperceptions: due to poor parenting, form of schizophrenia, due to developmental receptive language disorder, risk of autism in siblings is not increased

5. Pathophysiology • To date no known cause of autism • No link between the MMR vaccine and autism • An epidemiological study by Taylor et al in 1999 found no increase in the prevalence of autism after the introduction of the MMR vaccine in 1988. • Madsen et al study: retrospective cohort study of all children born in Denmark from Jan 1991 through Dec 1998.

6. Pathophysiology Cont. • Perfusion to the temporal lobe: • Meresse et al did a study comparing the perfusion of the temporal lobe to the global index of autism severity (mADI score). • Showed an inverse correlation

7. Clinical Presentation • Wide variety of symptoms that usually go undiagnosed for 2 to 3 years, but can be recognized around 18 months of age. • Parents are usually the first to notice that there is a problem with their child. • Variety of presentations with no two patients presenting in the same manner.

8. Clinical Presentation Cont. • Social Skills: • Difficulty interacting with others • No interest in others • No feelings extended toward others • Poor eye contact • Isolation • Difficulty interpreting others communication

9. Clinical Presentation Cont. • Speech, Language, and Communication: • May never develop speech – approximately 40% never learn to talk • Delayed speech development • Nonverbal language skills • Echolalia • Monotonous voice • Misuse of vocabulary • Inappropriate space • Continue conversation with a subject of interest

10. Clinical Presentation Cont. • Repeated Behaviors/Routines • Autistic patients may repeat tasks such as lining up their toys. • Routines are generally very comforting, and the patient may become extremely upset over changes within family and school routines.

11. Comorbities • Sensory problems – overly sensitive to sounds, textures, tastes and smells • Mental retardation – approx. 25% have some degree • Seizures – 1 in 4 autistic patients develop • Fragile X syndrome • Tuberous sclerosis – benign tumors in brain and other vital organs

12. Diagnosis • Parents – pay attention to their concerns • Regression from initially normal development • The child is in his/her “own world” • Not responding to his/her name • Not cuddly • Red Flags of Autism – these are just a few of the red flags to be aware of • Diagnosis is made based on the criteria set forth by the DSM-IV

13. Possible Red Flags of Autism • The child does not respond to his/her name. • The child cannot explain what he/she wants. • The child’s language skills are slow to develop or speech is delayed. • The child doesn’t follow directions. • At times, the child seems to be deaf. • The child seems to hear sometimes, but not other times. • The child doesn’t point or wave “bye-bye”. • The child used to say a few words or babble, but now he/she doesn’t. • The child throws intense or violent tantrums. • The child has odd movement patterns. • The child is overly active, uncooperative, or resistant. • The child doesn’t know how to play with toys.

14. Possible Red Flags of Autism • The child doesn’t smile when smiled at. • The child has poor eye contact. • The child gets “stuck” doing the same things over and over and can’t move on to other things. • The child seems to prefer to play alone. • The child gets things for him/herself only. • The child is very independent for his/her age. • The child does things “early” compared to other children. • The child seems to be in his/her own world. • The child seems to tune people out. • The child is not interested in other children. • The child walks on his/her toes. • The child shows unusual attachments to toys, objects, or schedules (i.e., always holding a string or having to put socks on before pants). • Child spends a lot of time lining things up or putting things in a certain order.

15. Screening Tools • No universal tool, No universal screening • Many to choose from • CHAT, M-CHAT, ASQ, CSBS DP, STAT, CARS, GARS (just a few) • Different levels of testing • Tools are appropriate for different ages

16. Treatment • No cure • Early intervention most beneficial if beginning during the preschool period – greatest benefit on skills and symptoms later on in the child’s life • Unconventional therapies – example dietary (not studied) • Medications: • SSRI’s – decrease frequency of repetitive, ritualistic behaviors; improve eye contact and social contact • Atypical antipsychotics – risperidone showing efficacy in severe behavioral problems • Anticonvulsants • Stimulants • Many more

17. Conclusion • Autism is prevalent! • Be aware of the Red Flags • Pay attention to parents concerns • Remain the Medical Home for your autistic patients – 14 points provided by the American Academy of Pediatrics • Stay up to date on screening and treatment

18. 14 Points for Providing a Medical Home for the Child with Autistic Spectrum Disorder and the Family • Be aware of the “Red Flags” for Autistic Spectrum Disorder. • Incorporate behavioral and developmental surveillance into health maintenance visits. • Use formal autism screening tool such as the Checklist for Autism in Toddlers (CHAT) or the Pervasive Developmental Disorders Screening Test-II (PDDST-II) when the possibility of ASD is suspected. • Refer to Early Intervention when any developmental risk is suspected. • Make an early referral to a pediatric behavior and developmental specialty team for a thorough diagnostic assessment when ASD is suspected. • Refer to a pediatric neurologist, geneticist and other specialists whose insights might be important in establishing causation. • Use case-based learning to improve knowledge and ability to provide care and support to the child and family.

19. 14 Points for Providing a Medical Home for the Child with Autistic Spectrum Disorder and the Family Cont. • After the diagnosis of ASD, put the family in contact with local and national autism support groups. • Assist the family of the autistic child to obtain emotional support, and refer to supportive and mental health services. • Partner with parents in a discussion of the diagnosis, treatment and intervention for the child, the parents and siblings. • After diagnosis, be vigilant for the developments of co-morbidities and specific sleep, eating and behavioral disorders, such as aggression or regression. • Advocate for the child and family with schools, service providers, state agencies and health insurers. • Be proactive at times of transition. Begin the planning process of transition to adult health care and service as early as 12 years of age with the transfer of care anticipated to take place as a young adult. • Provide a Medical Home with access to routine and coordinated care that is family-centered and culturally sensitive.

20. References • Kliegman RM, Marcdante KJ, Jenson HB, and Behrman RE. Nelson Essentials of Pediatrics. Fifth Edition. Elsevier Saunders 2006; Ch. 20: 99-100. • Meresse IG, Zilbovicius M, Boddaert N, Robel L, Philippe A, Sfaello I, Laurier L, et al. Autism severity and temporal lobe functional abnormalities. Ann Neurol 2005; 58:466-469. • Wolff S. The history of autism. Eur Child Adolesc Psychiatry 2004; 13:201-208. • Howard JS, Sparkman CR, Cohen HG, Green G, and Stanislaw H. A comparison of intensive behavior analytic and eclectic treatments for young children with autism. Research in Developmental Disabilities 2005; 26:359-383. • Madsen KM, Hviid A, Vestergaard M, Schendel D, Wohlfahrt J, Thorsen P, Olsen J, et al. A population-based study of measles, mumps, and rubella vaccination and autism. The New England Journal of Medicine 2002; 347:1477-1482. • Taylor B, Miller E, Farrington CP, Petropoulos M, Favot-Mayaud I, Li J, and Waight PA. Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association. The Lancet 1999; 353:2026-2029. • Dumont-Mathieu T and Fein D. Screening for autism in young children: The Modified Checklist for Autism in Toddlers (M-CHAT) and other measures. Mental Retardation and Developmental Disabilities Research Reviews 2005; 11:253-262. • Eaves LC and Ho HH. The very early identification of autism: Outcome to age 4 ½ - 5. Journal of Autism and Developmental Disorders 2004; 34(4):367-378. • Burke RT, Cardosi A, Price A, and Teatom-Burke A. The primary care of children with autism. Medicine and Health, Rhode Island 2005; 88(5):159-162. • Blackwell J. Clinical practice guideline: screening and diagnosing autism. Journal of The American Academy of Nurse Practitioners 2001; 13:534-536. • Lord C and Luyster R. Early diagnosis and screening of autism spectrum disorders. Medscape Psychiatry & Mental Health 2005; 10(2). Available from: http://www.medscape.com/viewarticle/518834_print • National Institute of Mental Health [homepage on the Internet]. Autism spectrum disorders (Pervasive developmental disorders). [updated 2005 October 24; cited 2004]. Available from: http://www.nimh.nih.gov/publicat/autism.cfm • CDC.org [homepage on the Internet]. Autism: Topic Home. Available from: http://www.cdc.gov/ncbddd/autism/ • National Institute of Child Health & Human Development [homepage on the Internet]. Autism Research at the NICHD. [updated 2005 October 24]. Available from: http://www.nichd.nih.gov/publications/pubs/autism_overview_2005.pdf