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Tipik ve Atipik Gelişim otizm spektrumu üzerinden tanılama

üzerine bir tartışma Dr Yankı Yazgan

Koç Üniversitesi, 27 Nisan 2016

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•  “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.”

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)

Dx Threshold on SNAP

Mean =0.92

1.5 std dev

2.0 std dev

Otizm spektrumu

•  Sosyal iletişim •  Öğrenme sorunları (söze dayalı

öğrenmede kusurlar, kategorik-kalıpçı öğrenme)

•  Tekrarlayıcı/sınırlayıcı ilgi ve davranışsal zorluklar

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Normal ile sınır

•  Normallik ile devamlılık •  Normalin içindeki çeşitlilik çok daha fazla •  Normdan uzaklık normal sayılan grupta

değişken

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

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.

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

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.

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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.

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.

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.

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.’

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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

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.

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

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.

•  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.

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.

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.

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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.

•  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.

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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