jennie plocica
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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.
ReferencesReferences
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