Autism: What the PhysicianAutism: What the Physician
Assistant Needs to KnowAssistant Needs to Know
Jennie PlocicaJennie P...
What is autism?What is autism?
 Autism is also known as:Autism is also known as:
 Autistic Spectrum Disorders (ASD)Autis...
EpidemiologyEpidemiology
 Prevalence: estimated to be 1 of 500 to 1 inPrevalence: estimated to be 1 of 500 to 1 in
1,000 ...
Background/HistoryBackground/History
 Early on considered to be a form of childhoodEarly on considered to be a form of ch...
PathophysiologyPathophysiology
 To date no known cause of autismTo date no known cause of autism
 No link between the MM...
Pathophysiology Cont.Pathophysiology Cont.
 Perfusion to the temporal lobe:Perfusion to the temporal lobe:
 Meresse et a...
Clinical PresentationClinical Presentation
 Wide variety of symptoms that usually goWide variety of symptoms that usually...
Clinical Presentation Cont.Clinical Presentation Cont.
 Social Skills:Social Skills:
 Difficulty interacting with others...
Clinical Presentation Cont.Clinical Presentation Cont.
 Speech, Language, and Communication:Speech, Language, and Communi...
Clinical Presentation Cont.Clinical Presentation Cont.
 Repeated Behaviors/RoutinesRepeated Behaviors/Routines
 Autistic...
ComorbitiesComorbities
 Sensory problems – overly sensitive to sounds,Sensory problems – overly sensitive to sounds,
text...
DiagnosisDiagnosis
 Parents – pay attention to their concernsParents – pay attention to their concerns
 Regression from ...
Possible Red Flags of AutismPossible Red Flags of Autism
 The child does not respond to his/her name.The child does not r...
Possible Red Flags of AutismPossible Red Flags of Autism
 The child doesn’t smile when smiled at.The child doesn’t smile ...
Screening ToolsScreening Tools
 No universal tool, No universal screeningNo universal tool, No universal screening
 Many...
TreatmentTreatment
 No cureNo cure
 Early intervention most beneficial if beginning during the preschoolEarly interventi...
ConclusionConclusion
 Autism is prevalent!Autism is prevalent!
 Be aware of the Red FlagsBe aware of the Red Flags
 Pay...
14 Points for Providing a Medical Home for the14 Points for Providing a Medical Home for the
Child with Autistic Spectrum ...
14 Points for Providing a Medical Home for the14 Points for Providing a Medical Home for the
Child with Autistic Spectrum ...
ReferencesReferences
 Kliegman RM, Marcdante KJ, Jenson HB, and Behrman RE. Nelson Essentials of Pediatrics. Fifth Editio...
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  • PDD-NOS is when the child has developmental disabilities but does not meet the specified criteria for autism or asperger’s. Rett and CDD are very rare.
  • Prevalence is determined by the number of students receiving special education in public school system. Therefore, number of children actually diagnosed with autism may be much higher.
  • Dr. Kanner noted the characteristics of autism as an “extreme autistic aloneness”. These early thoughts of autism are now known to not be founded.
  • Madsen and colleagues found that there was no association between the ages at the time of vaccination, time since vaccination, or the date of vaccination and the development of autistic disorder.
  • The temporal lobe of the brain is involved in social perception and language. As mADI score increased the perfusion to the temporal lobe decreased. This finding may lead to screening and treatment in the future.
  • A parents first concern maybe that the child is not cuddly or doesn’t respond to his/her name.
  • The autistic child may stick with something that is very interesting to he/she for a too long.
  • If parents of an autistic child with Fragile X syndrome have another child that is a boy, that child has a 1 in 2 chance of also having Fragile X.
  • It is necessary for the physician assistant to be aware of these so that early diagnosis, intervention, and support can begin for the child and family.
  • CHAT (checklist for autism in toddlers) M-CHAT (modified checklist for autism in toddlers) ASQ (ages and stages questionnaire) CSBS DP (the communication and symbolic behavior scales developmental profile) STAT (screening test for autism in two yr olds) CARS (Childhood autism rating scale) GARS (gilliam autism rating scale) It is important for the PA to find a tool or couple of tools that he/she is comfortable with and screen the children that present with red flags. If the child scores high for a developmental disability then refer the child to a specialist for further testing. At this point, screening every child during a well child exam is not the general rule.
  • Many of the medications are written off-label by the specialist. It is necessary to closely monitor the child for side effects.
  • The American Academy of Pediatrics developed the Medical Home Project to promote the role of the primary care providers in the care of children with special needs. Encourages the PA to provide surveillance and screening, care management, referral and coordination of care, education and guidance for the child and family, advocacy and support and the transition of health care as the child matures.
  • Jennie Plocica

    1. 1. Autism: What the PhysicianAutism: What the Physician Assistant Needs to KnowAssistant Needs to Know Jennie PlocicaJennie Plocica Advisor: Dr. GairolaAdvisor: Dr. Gairola
    2. 2. What is autism?What is autism?  Autism is also known as:Autism is also known as:  Autistic Spectrum Disorders (ASD)Autistic Spectrum Disorders (ASD)  Pervasive Developmental Disorders (PDD)Pervasive Developmental Disorders (PDD)  It is a developmental disability.It is a developmental disability.  Part of a group of similar disorders:Part of a group of similar disorders:  Autism is the most severe formAutism is the most severe form  Asperger’s syndrome is the mildest formAsperger’s syndrome is the mildest form  Pervasive developmental disorder not otherwise specified (PDD-NOS)Pervasive developmental disorder not otherwise specified (PDD-NOS) is in between the twois in between the two  Rett syndrome and Childhood Disintegrative DisorderRett syndrome and Childhood Disintegrative Disorder
    3. 3. EpidemiologyEpidemiology  Prevalence: estimated to be 1 of 500 to 1 inPrevalence: estimated to be 1 of 500 to 1 in 1,000 in the United States1,000 in the United States  Autism is the third most common developmentalAutism is the third most common developmental disability – more common than Down syndromedisability – more common than Down syndrome  Effects males four times more commonly thanEffects males four times more commonly than femalesfemales
    4. 4. Background/HistoryBackground/History  Early on considered to be a form of childhoodEarly on considered to be a form of childhood schizophreniaschizophrenia  Dr. Leo Kanner identified autism as its own entity in 1943Dr. Leo Kanner identified autism as its own entity in 1943 from a study of 11 children at John Hopkins Hospitalfrom a study of 11 children at John Hopkins Hospital  Misperceptions: due to poor parenting, form ofMisperceptions: due to poor parenting, form of schizophrenia, due to developmental receptive languageschizophrenia, due to developmental receptive language disorder, risk of autism in siblings is not increaseddisorder, risk of autism in siblings is not increased
    5. 5. PathophysiologyPathophysiology  To date no known cause of autismTo date no known cause of autism  No link between the MMR vaccine and autismNo link between the MMR vaccine and autism  An epidemiological study by Taylor et al in 1999 foundAn epidemiological study by Taylor et al in 1999 found no increase in the prevalence of autism after theno increase in the prevalence of autism after the introduction of the MMR vaccine in 1988.introduction of the MMR vaccine in 1988.  Madsen et al study: retrospective cohort study of allMadsen et al study: retrospective cohort study of all children born in Denmark from Jan 1991 through Decchildren born in Denmark from Jan 1991 through Dec 1998.1998.
    6. 6. Pathophysiology Cont.Pathophysiology Cont.  Perfusion to the temporal lobe:Perfusion to the temporal lobe:  Meresse et al did a study comparing theMeresse et al did a study comparing the perfusion of the temporal lobe to the globalperfusion of the temporal lobe to the global index of autism severity (mADI score).index of autism severity (mADI score).  Showed an inverse correlationShowed an inverse correlation
    7. 7. Clinical PresentationClinical Presentation  Wide variety of symptoms that usually goWide variety of symptoms that usually go undiagnosed for 2 to 3 years, but can beundiagnosed for 2 to 3 years, but can be recognized around 18 months of age.recognized around 18 months of age.  Parents are usually the first to notice that thereParents are usually the first to notice that there is a problem with their child.is a problem with their child.  Variety of presentations with no two patientsVariety of presentations with no two patients presenting in the same manner.presenting in the same manner.
    8. 8. Clinical Presentation Cont.Clinical Presentation Cont.  Social Skills:Social Skills:  Difficulty interacting with othersDifficulty interacting with others  No interest in othersNo interest in others  No feelings extended toward othersNo feelings extended toward others  Poor eye contactPoor eye contact  IsolationIsolation  Difficulty interpreting others communicationDifficulty interpreting others communication
    9. 9. Clinical Presentation Cont.Clinical Presentation Cont.  Speech, Language, and Communication:Speech, Language, and Communication:  May never develop speech – approximately 40% never learn toMay never develop speech – approximately 40% never learn to talktalk  Delayed speech developmentDelayed speech development  Nonverbal language skillsNonverbal language skills  EcholaliaEcholalia  Monotonous voiceMonotonous voice  Misuse of vocabularyMisuse of vocabulary  Inappropriate spaceInappropriate space  Continue conversation with a subject of interestContinue conversation with a subject of interest
    10. 10. Clinical Presentation Cont.Clinical Presentation Cont.  Repeated Behaviors/RoutinesRepeated Behaviors/Routines  Autistic patients may repeat tasks such as lining upAutistic patients may repeat tasks such as lining up their toys.their toys.  Routines are generally very comforting, and theRoutines are generally very comforting, and the patient may become extremely upset over changespatient may become extremely upset over changes within family and school routines.within family and school routines.
    11. 11. ComorbitiesComorbities  Sensory problems – overly sensitive to sounds,Sensory problems – overly sensitive to sounds, textures, tastes and smellstextures, tastes and smells  Mental retardation – approx. 25% have someMental retardation – approx. 25% have some degreedegree  Seizures – 1 in 4 autistic patients developSeizures – 1 in 4 autistic patients develop  Fragile X syndromeFragile X syndrome  Tuberous sclerosis – benign tumors in brain andTuberous sclerosis – benign tumors in brain and other vital organsother vital organs
    12. 12. DiagnosisDiagnosis  Parents – pay attention to their concernsParents – pay attention to their concerns  Regression from initially normal developmentRegression from initially normal development  The child is in his/her “own world”The child is in his/her “own world”  Not responding to his/her nameNot responding to his/her name  Not cuddlyNot cuddly  Red Flags of Autism – these are just a few of the redRed Flags of Autism – these are just a few of the red flags to be aware offlags to be aware of  Diagnosis is made based on the criteria set forth by theDiagnosis is made based on the criteria set forth by the DSM-IVDSM-IV
    13. 13. Possible Red Flags of AutismPossible Red Flags of Autism  The child does not respond to his/her name.The child does not respond to his/her name.  The child cannot explain what he/she wants.The child cannot explain what he/she wants.  The child’s language skills are slow to develop or speechThe child’s language skills are slow to develop or speech is delayed.is delayed.  The child doesn’t follow directions.The child doesn’t follow directions.  At times, the child seems to be deaf.At times, the child seems to be deaf.  The child seems to hear sometimes, but not other times.The child seems to hear sometimes, but not other times.  The child doesn’t point or wave “bye-bye”.The child doesn’t point or wave “bye-bye”.  The child used to say a few words or babble, but nowThe child used to say a few words or babble, but now he/she doesn’t.he/she doesn’t.  The child throws intense or violent tantrums.The child throws intense or violent tantrums.  The child has odd movement patterns.The child has odd movement patterns.  The child is overly active, uncooperative, or resistant.The child is overly active, uncooperative, or resistant.  The child doesn’t know how to play with toys.The child doesn’t know how to play with toys.
    14. 14. Possible Red Flags of AutismPossible Red Flags of Autism  The child doesn’t smile when smiled at.The child doesn’t smile when smiled at.  The child has poor eye contact.The child has poor eye contact.  The child gets “stuck” doing the same things over andThe child gets “stuck” doing the same things over and over and can’t move on to other things.over and can’t move on to other things.  The child seems to prefer to play alone.The child seems to prefer to play alone.  The child gets things for him/herself only.The child gets things for him/herself only.  The child is very independent for his/her age.The child is very independent for his/her age.  The child does things “early” compared to other children.The child does things “early” compared to other children.  The child seems to be in his/her own world.The child seems to be in his/her own world.  The child seems to tune people out.The child seems to tune people out.  The child is not interested in other children.The child is not interested in other children.  The child walks on his/her toes.The child walks on his/her toes.  The child shows unusual attachments to toys, objects, orThe child shows unusual attachments to toys, objects, or schedules (i.e., always holding a string or having to putschedules (i.e., always holding a string or having to put socks on before pants).socks on before pants).  Child spends a lot of time lining things up or puttingChild spends a lot of time lining things up or putting things in a certain order.things in a certain order.
    15. 15. Screening ToolsScreening Tools  No universal tool, No universal screeningNo universal tool, No universal screening  Many to choose fromMany to choose from  CHAT, M-CHAT, ASQ, CSBS DP, STAT, CARS,CHAT, M-CHAT, ASQ, CSBS DP, STAT, CARS, GARS (just a few)GARS (just a few)  Different levels of testingDifferent levels of testing  Tools are appropriate for different agesTools are appropriate for different ages
    16. 16. TreatmentTreatment  No cureNo cure  Early intervention most beneficial if beginning during the preschoolEarly intervention most beneficial if beginning during the preschool period – greatest benefit on skills and symptoms later on in theperiod – greatest benefit on skills and symptoms later on in the child’s lifechild’s life  Unconventional therapies – example dietary (not studied)Unconventional therapies – example dietary (not studied)  Medications:Medications:  SSRI’s – decrease frequency of repetitive, ritualistic behaviors; improveSSRI’s – decrease frequency of repetitive, ritualistic behaviors; improve eye contact and social contacteye contact and social contact  Atypical antipsychotics – risperidone showing efficacy in severeAtypical antipsychotics – risperidone showing efficacy in severe behavioral problemsbehavioral problems  AnticonvulsantsAnticonvulsants  StimulantsStimulants  Many moreMany more
    17. 17. ConclusionConclusion  Autism is prevalent!Autism is prevalent!  Be aware of the Red FlagsBe aware of the Red Flags  Pay attention to parents concernsPay attention to parents concerns  Remain the Medical Home for your autisticRemain the Medical Home for your autistic patients – 14 points provided by the Americanpatients – 14 points provided by the American Academy of PediatricsAcademy of Pediatrics  Stay up to date on screening and treatmentStay up to date on screening and treatment
    18. 18. 14 Points for Providing a Medical Home for the14 Points for Providing a Medical Home for the Child with Autistic Spectrum Disorder and theChild with Autistic Spectrum Disorder and the FamilyFamily  Be aware of the “Red Flags” for Autistic Spectrum Disorder.Be aware of the “Red Flags” for Autistic Spectrum Disorder.  Incorporate behavioral and developmental surveillance into healthIncorporate behavioral and developmental surveillance into health maintenance visits.maintenance visits.  Use formal autism screening tool such as the Checklist for AutismUse formal autism screening tool such as the Checklist for Autism in Toddlers (CHAT) or the Pervasive Developmental Disordersin Toddlers (CHAT) or the Pervasive Developmental Disorders Screening Test-II (PDDST-II) when the possibility of ASD isScreening Test-II (PDDST-II) when the possibility of ASD is suspected.suspected.  Refer to Early Intervention when any developmental risk isRefer to Early Intervention when any developmental risk is suspected.suspected.  Make an early referral to a pediatric behavior and developmentalMake an early referral to a pediatric behavior and developmental specialty team for a thorough diagnostic assessment when ASDspecialty team for a thorough diagnostic assessment when ASD is suspected.is suspected.  Refer to a pediatric neurologist, geneticist and other specialistsRefer to a pediatric neurologist, geneticist and other specialists whose insights might be important in establishing causation.whose insights might be important in establishing causation.  Use case-based learning to improve knowledge and ability toUse case-based learning to improve knowledge and ability to provide care and support to the child and family.provide care and support to the child and family.
    19. 19. 14 Points for Providing a Medical Home for the14 Points for Providing a Medical Home for the Child with Autistic Spectrum Disorder and theChild with Autistic Spectrum Disorder and the Family Cont.Family Cont.  After the diagnosis of ASD, put the family in contact with local andAfter the diagnosis of ASD, put the family in contact with local and national autism support groups.national autism support groups.  Assist the family of the autistic child to obtain emotional support, andAssist the family of the autistic child to obtain emotional support, and refer to supportive and mental health services.refer to supportive and mental health services.  Partner with parents in a discussion of the diagnosis, treatment andPartner with parents in a discussion of the diagnosis, treatment and intervention for the child, the parents and siblings.intervention for the child, the parents and siblings.  After diagnosis, be vigilant for the developments of co-morbiditiesAfter diagnosis, be vigilant for the developments of co-morbidities and specific sleep, eating and behavioral disorders, such asand specific sleep, eating and behavioral disorders, such as aggression or regression.aggression or regression.  Advocate for the child and family with schools, service providers,Advocate for the child and family with schools, service providers, state agencies and health insurers.state agencies and health insurers.  Be proactive at times of transition. Begin the planning process ofBe proactive at times of transition. Begin the planning process of transition to adult health care and service as early as 12 years oftransition to adult health care and service as early as 12 years of age with the transfer of care anticipated to take place as a youngage with the transfer of care anticipated to take place as a young adult.adult.  Provide a Medical Home with access to routine and coordinatedProvide a Medical Home with access to routine and coordinated care that is family-centered and culturally sensitive.care that is family-centered and culturally sensitive.
    20. 20. ReferencesReferences  Kliegman RM, Marcdante KJ, Jenson HB, and Behrman RE. Nelson Essentials of Pediatrics. Fifth Edition. Elsevier Saunders 2006; Ch.Kliegman RM, Marcdante KJ, Jenson HB, and Behrman RE. Nelson Essentials of Pediatrics. Fifth Edition. Elsevier Saunders 2006; Ch. 20: 99-100.20: 99-100.  Meresse IG, Zilbovicius M, Boddaert N, Robel L, Philippe A, Sfaello I, Laurier L, et al. Autism severity and temporal lobe functionalMeresse 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.abnormalities. Ann Neurol 2005; 58:466-469.  Wolff S. The history of autism. Eur Child Adolesc Psychiatry 2004; 13:201-208.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 forHoward 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.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,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.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 rubellaTaylor 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.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 otherDumont-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.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 DisordersEaves 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):367-378.2004; 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;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):159-162.88(5):159-162.  Blackwell J. Clinical practice guideline: screening and diagnosing autism. Journal of The American Academy of Nurse Practitioners 2001;Blackwell J. Clinical practice guideline: screening and diagnosing autism. Journal of The American Academy of Nurse Practitioners 2001; 13:534-536.13:534-536.  Lord C and Luyster R. Early diagnosis and screening of autism spectrum disorders. Medscape Psychiatry & Mental Health 2005; 10(2).Lord C and Luyster R. Early diagnosis and screening of autism spectrum disorders. Medscape Psychiatry & Mental Health 2005; 10(2). Available from:Available from: http://www.medscape.com/viewarticle/518834_printhttp://www.medscape.com/viewarticle/518834_print  National Institute of Mental Health [homepage on the Internet]. Autism spectrum disorders (Pervasive developmental disorders). [updatedNational Institute of Mental Health [homepage on the Internet]. Autism spectrum disorders (Pervasive developmental disorders). [updated 2005 October 24; cited 2004]. Available from:2005 October 24; cited 2004]. Available from: http://http://www.nimh.nih.gov/publicat/autism.cfmwww.nimh.nih.gov/publicat/autism.cfm  CDC.org [homepage on the Internet]. Autism: Topic Home. Available from:CDC.org [homepage on the Internet]. Autism: Topic Home. Available from: http://http://www.cdc.gov/ncbddd/autismwww.cdc.gov/ncbddd/autism//  National Institute of Child Health & Human Development [homepage on the Internet]. Autism Research at the NICHD. [updated 2005National Institute of Child Health & Human Development [homepage on the Internet]. Autism Research at the NICHD. [updated 2005 October 24]. Available from:October 24]. Available from: http://www.nichd.nih.gov/publications/pubs/autism_overview_2005.pdfhttp://www.nichd.nih.gov/publications/pubs/autism_overview_2005.pdf

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