Autism: What the Physician
Assistant Needs to Know
Jennie Plocica
Advisor: Dr. Gairola
What is autism?
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Autism is also known as:
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Autistic Spectrum Disorders (ASD)
Pervasive Developmental Disorders (PDD)
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It is a developmental disability.
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Part of a group of similar disorders:
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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
Epidemiology
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Prevalence: estimated to be 1 of 500 to 1 in
1,000 in the United States
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Autism is the third most common developmental
disability – more common than Down syndrome
Effects males four times more commonly than
females
Background/History
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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
Pathophysiology
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To date no known cause of autism
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No link between the MMR vaccine and autism
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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.
Pathophysiology Cont.
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Perfusion to the temporal lobe:
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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
Clinical Presentation
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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.
Clinical Presentation Cont.
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Social Skills:
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Difficulty interacting with others
No interest in others
No feelings extended toward others
Poor eye contact
Isolation
Difficulty interpreting others communication
Clinical Presentation Cont.
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Speech, Language, and Communication:
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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
Clinical Presentation Cont.
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Repeated Behaviors/Routines
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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.
Comorbities
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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
Diagnosis
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Parents – pay attention to their concerns
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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
Possible Red Flags of Autism
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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.
Possible Red Flags of Autism
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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.
Screening Tools
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No universal tool, No universal screening
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Many to choose from
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CHAT, M-CHAT, ASQ, CSBS DP, STAT, CARS, GARS
(just a few)
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Different levels of testing
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Tools are appropriate for different ages
Treatment
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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:
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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
Conclusion
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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
14 Points for Providing a Medical Home for the
Child with Autistic Spectrum Disorder and the
Family
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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.
14 Points for Providing a Medical Home for the
Child with Autistic Spectrum Disorder and the
Family Cont.
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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.
References
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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
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Eaves LC and Ho HH. The very early identification of autism: Outcome to age 4 ½ - 5. Journal of Autism and Developmental Disorders
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Blackwell J. Clinical practice guideline: screening and diagnosing autism. Journal of The American Academy of Nurse Practitioners 2001;
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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