Review of the topic of Autism Spectrum Disorder

By Anne Antrim, MD, FRCPC (biography and disclosures) – no disclosures. Note: I work in the Neonatal Intensive Care Unit at BCWH and in the Neonatal Follow-up Programme. Being born extremely prematurely increases the risk of fulfilling the diagnostic criteria for Autism Spectrum Disorder. I have used the Up to Date information for researching much of the therapies associated with ASD. I do not receive any monetary or other consideration for using the Up to Date information.

What I did before

I used to see Autism Spectrum Disorder as the diagnosis, not the symptoms and signs. While I knew that there was variability in presentation, I did not appreciate the multiplicity of causes. I did not appreciate the maze of information and forms parents face in trying to access a diagnosis, and then if confirmed, accessing funding.

What changed my practice

I was asked to present a workshop on Autism Spectrum Disorder at the 51^st Annual Post Graduate Review in Family Medicine, Feb 25-27, 2016 conference held in Vancouver, BC. To prepare for the talk, I reviewed the history of the diagnosis, the latest literature on early markers and potential causes of the disorder, diagnosis and potential therapies. I found that Up To Date has an extensive library on various aspects of ASD along with supporting research. I discovered several useful community and government websites to help guide clinicians and families.

What I do now (what I learned)

1. The current definition of ASD in DSM-5 (2013) has 2 criteria: “persistent impairment in reciprocal social communication and social interactions” AND “restricted, repetitive patterns of behavior”. The symptoms must be present from early childhood, but may not manifest till the social demands exceed the capacity of the child to respond. The symptoms together limit and impair everyday functioning. This statement explains why severe autism is apparent at age 18 months but less severe cases might not be obvious till school age. If a child does not have repetitive behaviours, he/she might fit into the diagnostic category of Social (Pragmatic) Communication Disorder which is a NEW diagnostic category in DSM-5.
2. ASD is a phenotype with over 200 genetic markers associated with it. There is no one cause but multiple associations both genetically and environmentally. Being born extremely prematurely markedly increases the child’s risk for fulfilling diagnostic criteria for ASD. I am much more cognizant of the varieties of presentations and severity. Saying that someone has ASD is like saying someone has a neurologic condition – it does not explain the actual physiology. This is where one of the frontiers of research is. Autism Spectrum Disorder is a phenotype.
3. Sadly, ~45%-60 of children diagnosed with ASD will also have an IQ of 70 or less. The clue to the diagnosis of ASD is that the social delay is more severe than expected for the functioning IQ. You can think of an age-equivalent for the cognitive function, and then determine if the social functioning is concordant or even more delayed.
4. When presented with a question of ASD in a person, conduct a thorough history at presentation including prenatal history including risk factors (prematurity, anticonvulsant exposure, ethanol exposure), family history, general review of systems like feeding, sleeping, interests and developmental history (gross  and fine motor, language, social milestones like eye contact, pointing to objects, response to name).  The physical exam can be really challenging as the child will not be reassured by our usual techniques of verbal reassurance. Be patient, start with parallel play and go from there. All developmental assessments take a while. This type of appointment is a consult with at least one follow-up.
5. Next steps if you are suspecting a diagnosis of ASD:
   1. Hearing test
   2. Vision testing
   3. Ask for input from community caregivers like Infant Development program, relatives, and preschool caregivers.
   4. Obtain a consultation with a paediatrician if feasible.
   5. You can administer or have parents take the M-CHAT screening tool on-line and print out results and give to you. https://www.m-chat.org/
6. The diagnosis of ASD has the same shock value as the diagnosis of cerebral palsy. Often as soon as I speak the word “autism”, the parent is flooded with cortisol and internal panic sets in. I invite the family to read about ASD and to feel free to disagree with my suspicion. In my community practice, I would always offer a follow-up visit to get feedback from the family and their reading. You can ask parents to go to the website http://www.actcommunity.ca/information/autism-manual-for-bc/ and to read ACT’s Autism Manual for B.C. The manual comes in English, Punjabi and Chinese. I like the Manual as it walks a parent through the possible diagnosis of autism in lay terms, and a parent can see if he/she feels that the child has some of the concerning features or not. The website also has a link to the Government of BC Ministry of Children and Families Development website with a manual for families. Parents can also go to http://www2.gov.bc.ca/ and type in the search box “autism” and will get lots of publications to read.
7. If the parents want a longer term perspective at some point, refer them to the many books of Temple Grandin (who herself has ASD) including “The Autistic Brain: Thinking Across the Spectrum” Grandin and Panek, 2013. I also suggest parents check the website Carly’s Voice http://carlysvoice.com/home/ which is written by a Carly Fleischmann, who has ASD and cannot orally speak but communicates through her computer. The site includes the astounding TV segment from ABCs 20/20.
8. To qualify for provincial government funding for Autism Spectrum Disorder, the diagnosis has to be made using the Autism Diagnostic Interview -Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The mechanism for this is described on the government website http://www.phsa.ca/our-services/programs-services/bc-autism-assessment-network. The government of BC has 2 sets of forms. The child is either seen through the BC Autism Assessment Network (link on the govt site) OR the child goes to a private psychologist to have the assessment done. The forms are then submitted to the government.

For more information on ASD review this summary https://med-fom-tcmp.sites.olt.ubc.ca/files/2017/05/Antrim-AUTISM-HANDOUT.pdf.

References

1. Autism Community Training (ACT). http://www.actcommunity.ca. Updated May 29, 2017. Accessed June 2, 2017. (View) For families and health professionals, some information in Chinese.
2. Autism spectrum disorder. Province of British Columbia. http://www2.gov.bc.ca/gov/content/health/managing-your-health/healthy-women-children/child-behaviour-development/special-needs/autism-spectrum-disorder. Updated April 11, 2017. Accessed June 2, 2017. (View) Government website and includes a parent guide.
3. Dua V. Standards and guidelines for the assessment and diagnosis of young children with autism spectrum disorder in British Columbia. http://www.health.gov.bc.ca/library/publications/year/2003/asd_standards_0318.pdf. Published March 2003. Accessed June 2, 2017. (View) Describes standards that must be met for funding. One can obtain a diagnosis of autism privately but it must follow the standards set by MCFD to secure funding.
4. Autism spectrum disorder. UpToDate. http://www.uptodate.com/contents/autism-spectrum-disorder. Updated March 8, 2017. Accessed June 2, 2017. (View) Review of the current information.
5. Treatable Intellectual Disabilities BC. tidebc.org. Updated May 23, 2017. Accessed June 2, 2017. (View)
6. Hviid A, Melbye M, Pasternak B. Use of selective serotonin reuptake inhibitors during pregnancy and risk of autism. Engl. J. Med. 2013;369:2406-2415. (View)
7. Baker JP. Autism at 70–redrawing the boundaries. Engl. J. Med. 2013;369:1089. (Request with CPSBC or view UBC) DOI: 10.1056/NEJMp1306380
8. Blaine KA. Your Child’s Best Shot: A Parent’s Guide to Vaccination. 2nd edition. Ottawa: Canadian Paediatric Society; 2003.
9. Dichter GS. Functional magnetic resonance imaging of autism spectrum disorders. Dialogues Clin. Neurosci. 2012;14:319. (View)
10. Harrington R, Lee L, Crum R, Zimmerman A, Hertz-Picciotto I. Prenatal SSRI use and offspring with autism spectrum disorder or developmental delay. Pediatr. 2014;133:E1241-E1248. (View)
11. Offit PA. Thimerosal and vaccines — a cautionary tale. Engl. J. Med. 2007;357:1278-1279. (View)
12. Volkmar FR, Wiesner LA. Healthcare for Children on the Autism Spectrum: A Guide to Medical, Nutritional and Behavioural Issues. 1st ed. Bethesda, MD: Woodbine House; 2004. (Request with CPSBC or UBC)
13. Kaufmann WE, MD, Senior Associate in Neurology, Boston Children’s Hospital, Visiting Professor of Neurology, Harvard Medical School. Innovations in Diagnosis: DSM-5: The new diagnostic criteria for autism spectrum disorders. Presented at: Autism Consortium research symposium; October 24, 2012; Boston, MA, USA. http://doczz.net/doc/3877097/dsm-5–the-new-diagnostic-criteria-for-autism-spectrum-di. Accessed June 6, 2017. (View) Excellent review of the development of diagnostic criteria of ASD and interesting history of the evolution of the Diagnostic Statistical Manual and ICD criteria for mental disorders .

Resources for physicians:

1. Antrim, A. Summary of Autism Spectrum Disorder. https://med-fom-tcmp.sites.olt.ubc.ca/files/2017/05/Antrim-AUTISM-HANDOUT.pdf. Published February 25, 2016. Accessed June 2, 2017. (View)
2. TIDE for physicians. Treatable Intellectual Disability Endeavor in B.C. http://www.tidebc.org/Ph/physicians.html. Updated 2017. Accessed June 2, 2017. (View)

Patient Handouts and Resources:

1. ACT’s autism manual for B.C. Autism Community Training (ACT). http://www.actcommunity.ca/information/autism-manual-for-bc/. Accessed June 2. 2017. (View)
2. Grandin T, Panek R. The Autistic Brain: Thinking Across the Spectrum. Boston: Houghton Mifflin Harcourt; 2013. (Find in a library with Worldcat)
3. McKenzie, J. ABC’s 20/20 [TV segment]. New York, New York; USA): ABC News; December 7, 2010. (View)
4. BC autism assessment network. Provincial Health Services Authority. http://www.phsa.ca/our-services/programs-services/bc-autism-assessment-network. Updated 2017. Accessed June 2, 2017. (View)
5. TIDE for patients. Treatable Intellectual Disability Endeavor in B.C. http://www.tidebc.org/pa/patients.html. Updated 2017. Accessed June 2, 2017. (View)
6. The Modified Checklist for Autism in Toddlers https://www.m-chat.org/

Books:

1. Fleischmann, A; Fleischmann, C.  Carly’s Voice:  Breaking Through Autism. New York: Simon & Schuster, 2012. (View with Goodreads or find with Worldcat)
2. Grandin T, Panek R. The Autistic Brain: Thinking Across the Spectrum. Boston: Houghton Mifflin Harcourt; 2013. (Find with Worldcat)
3. Grandin, T. Different . . . Not Less: Inspiring Stories of Achievement and Successful Employment from Adults with Autism, Asperger’s, and ADHD. Arlington, TX: Future Horizons; 2012. (Find with WorldCat)
4. Grinker RR. Unstrange Minds: Remapping the World of Autism. New York: Basic Books; 2007. (Find with WorldCat)
5. Mukhopadhyay, TR.  How Can I Talk if My Lips Don’t Move:  Inside My Autistic Mind. New York: Arcade Pub.; 2008. (Find with Worldcat)
6. Tammet D. Born on a Blue Day: Inside the Extraordinary Mind of an Autistic Savant: A Memoir. 1st Free Press pbk. ed. New York: Free Press; 2007. (Request with CPSBC or find with WorldCat)

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Review of the topic of Autism Spectrum Disorder

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