Autism: What the Autism: What the Physician Assistant Needs Physician Assistant Needs

to Knowto Know

Jennie PlocicaJennie Plocica

Advisor: Dr. GairolaAdvisor: Dr. Gairola

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 Pervasive developmental disorder not otherwise specified

(PDD-NOS) is in between the two(PDD-NOS) is in between the two Rett syndrome and Childhood Disintegrative Disorder Rett syndrome and Childhood Disintegrative Disorder

EpidemiologyEpidemiology

Prevalence: estimated to be 1 of 500 to 1 Prevalence: estimated to be 1 of 500 to 1 in 1,000 in the United Statesin 1,000 in the United States Autism is the third most common Autism is the third most common

developmental disability – more common than developmental disability – more common than Down syndromeDown syndrome

Effects males four times more commonly Effects males four times more commonly than femalesthan females

Background/HistoryBackground/History

Early on considered to be a form of childhood Early on considered to be a form of childhood schizophreniaschizophrenia

Dr. Leo Kanner identified autism as its own entity in Dr. Leo Kanner identified autism as its own entity in 1943 from a study of 11 children at John Hopkins 1943 from a study of 11 children at John Hopkins HospitalHospital

Misperceptions: due to poor parenting, form of Misperceptions: due to poor parenting, form of schizophrenia, due to developmental receptive schizophrenia, due to developmental receptive language disorder, risk of autism in siblings is not language disorder, risk of autism in siblings is not increasedincreased

PathophysiologyPathophysiology

To date no known cause of autism To 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 An epidemiological study by Taylor et al in 1999

found no increase in the prevalence of autism after found no increase in the prevalence of autism after the introduction of the MMR vaccine in 1988.the introduction of the MMR vaccine in 1988.

Madsen et al study: retrospective cohort study of Madsen et al study: retrospective cohort study of all children born in Denmark from Jan 1991 all children born in Denmark from Jan 1991 through Dec 1998.through Dec 1998.

Pathophysiology Cont.Pathophysiology Cont.

Perfusion to the temporal lobe:Perfusion to the temporal lobe: Meresse et al did a study comparing the Meresse et al did a study comparing the

perfusion of the temporal lobe to the perfusion of the temporal lobe to the global index of autism severity (mADI global index of autism severity (mADI score).score).

Showed an inverse correlationShowed an inverse correlation

Clinical PresentationClinical Presentation

Wide variety of symptoms that usually go Wide variety of symptoms that usually go undiagnosed for 2 to 3 years, but can be undiagnosed 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 Parents are usually the first to notice that there is a problem with their child.there is a problem with their child.

Variety of presentations with no two Variety of presentations with no two patients presenting in the same manner.patients presenting in the same manner.

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

Clinical Presentation Cont.Clinical Presentation Cont.

Speech, Language, and Communication:Speech, Language, and Communication:

May never develop speech – approximately 40% never May never develop speech – approximately 40% never learn to talklearn to talk

Delayed speech developmentDelayed speech development Nonverbal language skillsNonverbal language skills EcholaliaEcholalia Monotonous voiceMonotonous voice Misuse of vocabularyMisuse of vocabulary Inappropriate space Inappropriate space Continue conversation with a subject of interest Continue conversation with a subject of interest

Clinical Presentation Cont.Clinical Presentation Cont.

Repeated Behaviors/RoutinesRepeated Behaviors/Routines

Autistic patients may repeat tasks such as Autistic patients may repeat tasks such as lining up their toys.lining up their toys.

Routines are generally very comforting, and Routines are generally very comforting, and the patient may become extremely upset over the patient may become extremely upset over changes within family and school routines.changes within family and school routines.

ComorbitiesComorbities

Sensory problems – overly sensitive to Sensory problems – overly sensitive to sounds, textures, tastes and smellssounds, textures, tastes and smells

Mental retardation – approx. 25% have Mental retardation – approx. 25% have some degreesome degree

Seizures – 1 in 4 autistic patients developSeizures – 1 in 4 autistic patients develop Fragile X syndromeFragile X syndrome Tuberous sclerosis – benign tumors in Tuberous sclerosis – benign tumors in

brain and other vital organsbrain and other vital organs

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 Red Flags of Autism – these are just a few of the red flags to be aware ofred flags to be aware of

Diagnosis is made based on the criteria set forth Diagnosis is made based on the criteria set forth by the DSM-IVby the DSM-IV

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 The child’s language skills are slow to develop or

speech is delayed.speech 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 The child seems to hear sometimes, but not other

times.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 The child used to say a few words or babble, but

now he/she doesn’t.now 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 The child is overly active, uncooperative, or

resistant.resistant. The child doesn’t know how to play with toys.The child doesn’t know how to play with toys.

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 and The 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, or The child shows unusual attachments to toys, objects, or

schedules (i.e., always holding a string or having to put schedules (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 putting Child spends a lot of time lining things up or putting things in a certain order.things in a certain order.

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

TreatmentTreatment

No cureNo cure Early intervention most beneficial if beginning during the Early intervention most beneficial if beginning during the

preschool period – greatest benefit on skills and symptoms preschool period – greatest benefit on skills and symptoms later on in the child’s lifelater on in the child’s life

Unconventional therapies – example dietary (not studied)Unconventional therapies – example dietary (not studied) Medications: Medications:

SSRI’s – decrease frequency of repetitive, ritualistic behaviors; SSRI’s – decrease frequency of repetitive, ritualistic behaviors; improve eye contact and social contactimprove eye contact and social contact

Atypical antipsychotics – risperidone showing efficacy in severe Atypical antipsychotics – risperidone showing efficacy in severe behavioral problemsbehavioral problems

AnticonvulsantsAnticonvulsants StimulantsStimulants Many moreMany more

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 autistic Remain the Medical Home for your autistic

patients – 14 points provided by the patients – 14 points provided by the American Academy of PediatricsAmerican Academy of Pediatrics

Stay up to date on screening and Stay up to date on screening and treatmenttreatment

14 Points for Providing a Medical Home for 14 Points for Providing a Medical Home for the Child with Autistic Spectrum Disorder the Child with Autistic Spectrum Disorder and the Familyand the Family Be aware of the “Red Flags” for Autistic Spectrum Be aware of the “Red Flags” for Autistic Spectrum

Disorder.Disorder. Incorporate behavioral and developmental surveillance Incorporate behavioral and developmental surveillance

into health maintenance visits.into health maintenance visits. Use formal autism screening tool such as the Checklist for Use formal autism screening tool such as the Checklist for

Autism in Toddlers (CHAT) or the Pervasive Autism in Toddlers (CHAT) or the Pervasive Developmental Disorders Screening Test-II (PDDST-II) Developmental Disorders Screening Test-II (PDDST-II) when the possibility of ASD is suspected.when the possibility of ASD is suspected.

Refer to Early Intervention when any developmental risk Refer to Early Intervention when any developmental risk is suspected.is suspected.

Make an early referral to a pediatric behavior and Make an early referral to a pediatric behavior and developmental specialty team for a thorough diagnostic developmental specialty team for a thorough diagnostic assessment when ASD is suspected.assessment when ASD is suspected.

Refer to a pediatric neurologist, geneticist and other Refer to a pediatric neurologist, geneticist and other specialists whose insights might be important in specialists whose insights might be important in establishing causation.establishing causation.

Use case-based learning to improve knowledge and Use case-based learning to improve knowledge and ability to provide care and support to the child and family.ability to provide care and support to the child and family.

14 Points for Providing a Medical Home for 14 Points for Providing a Medical Home for the Child with Autistic Spectrum Disorder the Child with Autistic Spectrum Disorder and the Family Cont.and the Family Cont. After the diagnosis of ASD, put the family in contact with local and After 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, Assist the family of the autistic child to obtain emotional support,

and refer to supportive and mental health services.and refer to supportive and mental health services. Partner with parents in a discussion of the diagnosis, treatment and Partner 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-morbidities After diagnosis, be vigilant for the developments of co-morbidities

and specific sleep, eating and behavioral disorders, such as and 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 of Be proactive at times of transition. Begin the planning process of transition to adult health care and service as early as 12 years 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 age with the transfer of care anticipated to take place as a young adult.adult.

Provide a Medical Home with access to routine and coordinated Provide 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.

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