Koç Üniversitesinde verilmiş konferans. Bir kısmı daha önce Haseki Nöroloji'de verdiğim konferanstan. Üzerinde durduğum normal ile anormal arasındaki ayrımın düşündüğümüzden çok daha silik olduğu, ikisi arasındaki geçişliliğin yüksek olduğu kanısı üzerine. Yarı İngilizce yarı Türkçe, kusura bakmayın. Ancak yetişiyor:)

1. www.yankiyazgan.com
@yankiyazgancom

2. Tipik ve Atipik Gelişim
otizm spektrumu üzerinden tanılama
üzerine bir tartışma
Dr Yankı Yazgan
Koç Üniversitesi, 27 Nisan 2016
www.yankiyazgan.com
@yankiyazgancom

3. • “Disorders are not a matter of us ‘normal’
people versus those other people who are
‘disordered,’” Plomin says. “We all have
many of the risk alleles for disorders.”

4. Epidemiology: Basics #1
Epidemiology
-distribution & determinants of disease
Prevalence
-number of cases in population at a given time
(# of cases/population)
Incidence
-number of new cases in population during a
specified period of time
(# of new cases during period/population)

5. Dx Threshold on SNAP
Mean =0.92
1.5 std dev
2.0 std dev

6. Otizm spektrumu
• Sosyal iletişim
• Öğrenme sorunları (söze dayalı
öğrenmede kusurlar, kategorik-kalıpçı
öğrenme)
• Tekrarlayıcı/sınırlayıcı ilgi ve
davranışsal zorluklar
@yankiyazgancom

7. Normal ile sınır
• Normallik ile devamlılık
• Normalin içindeki çeşitlilik çok daha fazla
• Normdan uzaklık normal sayılan grupta
değişken
@yankiyazgancom

8. @yankiyazgancom

9. Article put into the presentation format by Bekir Artukoglu, November 2015

10. Mothers are among the best
diagnosticians of
developmental and behavioral
problems in young
children.
If not for the positive predictive power of
the mother’s diagnostic ability, few kids would
make it to the child and adolescent psychiatrist
(‘help-seeking’) unless they really got into
trouble.

11. Doctors
• naive in the sense of medical
diagnostic algorithms,
• can sense that there is
something wrong associated
with a burden (‘impairment’)
• reflective and systematic-
analytic approach
• need to focus on the number,
duration and composition of
symptoms (DSM, ICD)
Mothers

12. One good reason
• The ‘one good reason’ approach is useful for
‘screening’ and ‘referral’-based primary care
systems.
• The ‘real’ diagnosis and treatment can be made by
the psychiatrist at a ‘higher grade’ of care.
• A prototype-screening diagnosis carries the hard
to-avoid risk of being rounded up to a ‘real’
diagnosis, i.e., overdiagnosis of the condition as
requiring clinical attention.
www.yankiyazgan.com
@yankiyazgancom

13. Impairment and Diagnosis
For a condition to reach the
‘status’ of a diagnosis, being
seen, or being noticed, is a
must.
A condition is less likely to
receive a diagnosis unless it is
brought to the attention of a
professional due to its
impairment.

14. Impairment
• We may use a broader definition of impairment as
burden or ‘cost’ resulting from avoidance,
accommodation and compensation associated with
the condition, not only distress and disability.
• Why would the individuals and families present to
a clinician if there is no impairment? Help-seeking
behavior is elicited by the changes in the child or
his/her environment that are impairing and are
related to the symptoms.

15. Conclusions-a1
• ‘For the clinician as opposed to the
investigator, there is an imperative in
attending to the relief of the
stress’ (Eisenberg, 1977).
• This imperative is somewhat similar to what
lies behind the mother’s naive approach.
• Clinicians, different from mothers or healers,
have access to other resources to reconcile
their sentimental and naive diagnostic
approaches.

16. Conclusions a2:
Like a novelist
• Being a diagnostician, similar to Pamuk’s
description of a novelist, is:
‘the art of being both naive and sentimental at
the same time,’ and ‘finding the equilibrium
between the naive and sentimental within.’
www.yankiyazgan.com
@yankiyazgancom

17. References
Eisenberg, L. (1977). Psychiatry and society. New England Journal of Medicine, 296, 903–910.
Guler, A., Scahill, L., Jeon, S., Taskin, B., Dedeoglu, C., Unal, S., & Yazgan, Y. (2010).
Identification of children at high risk for ADHD in a school sample in Turkey. The Scientific
Proceedings of the 2010 Annual Meeting of the American Academy of Child and Adolescent
Psychiatry, p. 259
Gigenzerer, G. (2007). Gut feelings (pp. 134–157). London: Penguin.
Pamuk, O. (2010). ‘What our minds do when we read novels’ (pp. 1–31). In The naive and the
sentimental novelist. Cambridge, MA: Harvard University Press
Rutter, M. (2011). Child psychiatric diagnosis and classification: concepts, findings, challenges
and potential. Journal of Child Psychology and Psychiatry, 52. doi:10.1111/j.
1469-7610.2011.02367.x
Images:
Worried mother. Digital Image. Huffington Post. 09/01/2013. Web. 11/08/2015
Worried doctor. Digital Image. Exclusive Multibriefs. 06/06/2014. Web. 11/08/2015
Friedrich Schiller. Digital Image. Schiller Institute. Web. 11/08/2015
Orhan Pamuk. Digital Image. Telegraph. 03/18/2011. Web. 11/08/2015

18. Autism in non-diagnosed
individuals
• In both clinical and nonclinical population
based datasets, more than one-quarter of the
genetic variants that contribute to autism
risk are also associated with poor social
skills in 8-year-old children.

19. Poor social skills are related to
the same genetic variants in
autism
• This roughly 30 percent in overlap in
variants is greater than the shared risk
between autism and schizophrenia, and
much greater than the overlap between
autism and bipolar disorder or depression —
conditions that often co-occur. In fact, it is
as large as the genetic overlap between
obesity and type 2

20. Rare harmful mutations
• Roughly 19 percent of people with autism
and nearly 10 percent of controls carry these
rare variants, the researchers found. And in
both groups, the more of these variants a
person has, the lower he scores on a test
called the Vineland Adaptive Behavior
Scales, which measures social,
communication and daily living skills.

21. • The highest Vineland (adaptive functioning)
scores among people with autism overlap
with the lowest scores in people without the
condition. The individuals who share
Vineland scores have a similar number of
rare mutations regardless of whether they
have autism.

22. parents
• In the June study, published in Molecular
Autism, Simon Baron-Cohen and his team
asked 2,000 parents of children on the
autism spectrum and 1,007 parents of
healthy children to fill out the questionnaire.
As expected, parents of the diagnosed
children scored higher, meaning they have
greater numbers of traits associated with
autism than do controls.

23. Parents of children with autism
• Baron-Cohen’s group also found that 23
percent of mothers and 33 percent of fathers
of children with autism spectrum disorders
meet or exceed the BAP cut-off. These
parents can be grouped into two new
categories — the medium or the narrow
phenotype, the latter of which is closest to
autism — the researchers say.
www.yankiyazgan.com
@yankiyazgancom

24. Relatives of people with autism
share neurobio deficits
• relatives of people with autism are less
accurate at tracking slow-moving objects
and quickly shifting their gaze from one
object to another than are relatives of
healthy individuals, according to a study
published in the August Archives of General
Psychiatry1.

25. • The findings are the latest in a series of
studies that pick out subtle traits associated
with autism in healthy first-degree relatives
of people with the disorder.

26. Conclusions-b
• The genetic basis of normal and abnormal
distinction, as in the spectrum vs off the
spectrum, appears to challenge the
conventional dichotomous diagnostic
approach.
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