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

2. 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 form Autism is the most severe form Asperger’s syndrome is the mildest form Asperger’s syndrome is the mildest form Pervasive developmental disorder not otherwise specified (PDD-NOS) is in between the two Pervasive developmental disorder not otherwise specified (PDD-NOS) is in between the two Rett syndrome and Childhood Disintegrative Disorder Rett syndrome and Childhood Disintegrative Disorder

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

4. Background/History Early on considered to be a form of childhood schizophrenia 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 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 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 To date no known cause of autism No link between the MMR vaccine and 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. 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. 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: 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). 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 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. 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. 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. Variety of presentations with no two patients presenting in the same manner.

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

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

10. Clinical Presentation Cont. Repeated Behaviors/Routines Repeated Behaviors/Routines Autistic patients may repeat tasks such as lining up their toys. 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. 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 Sensory problems – overly sensitive to sounds, textures, tastes and smells Mental retardation – approx. 25% have some degree Mental retardation – approx. 25% have some degree Seizures – 1 in 4 autistic patients develop Seizures – 1 in 4 autistic patients develop Fragile X syndrome Fragile X syndrome Tuberous sclerosis – benign tumors in brain and other vital organs Tuberous sclerosis – benign tumors in brain and other vital organs

12. Diagnosis Parents – pay attention to their concerns Parents – pay attention to their concerns Regression from initially normal development Regression 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 name Not responding to his/her name Not cuddly Not cuddly Red Flags of Autism – these are just a few of the red flags to be aware of 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 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 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 speech is delayed. The child’s language skills are slow to develop or 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 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 now he/she doesn’t. 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 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. Possible 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 over and can’t move on to other things. 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 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 schedules (i.e., always holding a string or having to put socks on before pants). 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. 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 No universal tool, No universal screening Many to choose from Many to choose from CHAT, M-CHAT, ASQ, CSBS DP, STAT, CARS, GARS (just a few) CHAT, M-CHAT, ASQ, CSBS DP, STAT, CARS, GARS (just a few) Different levels of testing Different levels of testing Tools are appropriate for different ages Tools are appropriate for different ages

16. Treatment No cure 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 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) Unconventional therapies – example dietary (not studied) Medications: Medications: SSRI’s – decrease frequency of repetitive, ritualistic behaviors; improve eye contact and social contact SSRI’s – decrease frequency of repetitive, ritualistic behaviors; improve eye contact and social contact Atypical antipsychotics – risperidone showing efficacy in severe behavioral problems Atypical antipsychotics – risperidone showing efficacy in severe behavioral problems Anticonvulsants Anticonvulsants Stimulants Stimulants Many more Many more

17. Conclusion Autism is prevalent! Autism is prevalent! Be aware of the Red Flags Be aware of the Red Flags Pay attention to parents concerns Pay attention to parents concerns Remain the Medical Home for your autistic patients – 14 points provided by the American Academy of Pediatrics 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 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. Be aware of the “Red Flags” for Autistic Spectrum Disorder. Incorporate behavioral and developmental surveillance into health maintenance visits. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. Provide a Medical Home with access to routine and coordinated care that is family-centered and culturally sensitive.

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