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Validation of the Computerized Neurocognitive Battery in individuals with 22q11.2 deletion syndrome (22q11DS) Ronnie Weinberger, PhD Prof. Doron Gothelf, MD Sheba Medical Center Tel Aviv University Big Thanks Raquel Gur


  1. Validation of the Computerized Neurocognitive Battery in individuals with 22q11.2 deletion syndrome (22q11DS) Ronnie Weinberger, PhD Prof. Doron Gothelf, MD Sheba Medical Center Tel Aviv University

  2. Big Thanks Raquel Gur Ruben Gur Children's Hospital of Philadelphia, Penn University

  3. Main Ideas • The importance of cognition in everyday functioning • Results from cognitive studies with individuals with 22q11DS • The Computerized Neurocognitive Battery (CNB)

  4. Most of individuals with 22q11DS cope with learning disabilities

  5. Real world functioning Complex problem Non-cognitive soloing, planning, factor (e.g. organization motivation) Working Memory Inhibition Processing Speed Basic cognition

  6. The Cognitive Profile of Select Psychiatric Disorders Attention Deficit and Hyperactivity Disorder Everyday Depression functioning Anxiety Disorder Deficits in attention, Cognitive deficits may global memory, range from mild to Attention processing working memory, severe. are captures by speed of processing Global deficits in negative emotions, attention, memory, thereby slow down or speed of processing impaired overall cognitive performance

  7. Neuro- Cognitive Deficits in Schizophrenia Verbal Fluency Reasoning/ Attention Problem solving Visual WM Learning Verbal Social Memory Learning Sponheim et al, 2010/ Schimansky et al, 2010/ Bowie et al 2006

  8. Cognitive Deficits in Psychosis Traits that Associated are with the preexisting onset of and raise psychotic the risk for symptoms psychosis Antshel, K. M., Fremont, W., Ramanathan, S., & Kates, W. R. (2016).

  9. Studies recommendation Frequent neurocognitive evaluations in 22q11DS Bassett, A. S., et al (2011).Practical guardedness for managing patients with 22q11.2 deletion syndrome.

  10. Limitations of Previous Studies • IQ test is essential for later diagnosis- BUT it has limitations • Little used a comprehensive computerized battery adapted for use in 22q11DS The field should place emphasis on early identification and intervention

  11. Neurocognitive evaluation should be… Reliable Thorough Comprehensive Can be used Can be used frequent if Efficient periodically needed

  12. The Penn Computerized Neurocognitive Battery (CNB) • Develop in Penn university • Previous used in schizophrenia studies, and was adapted for 22q11DS research • It takes ~ 1 hour to administer, by trained staff • CNB performance is compared to chronological age, based on typically developed controls

  13. Computerized Neurocognitive Battery Executive • Continuous Performance Test • Conditional Exclusion Function • Letter-N-back Complex • Line Orientation Test Cognition • Matrix Analysis • 5 Emotion Recognition Social Cognition • Pair of faces, which one is older • Pair of faces with emotions, which one is more intense • Words Recall Episodic Memory • Faces Recall • Visual Object learning Praxis Speed • Click a moving green square that gets smaller • Spacebar tapping

  14. Examples for clinical recommendations • Ensure frequent repetition and Problems with reinforcement of information following new rules • Escorting John through Problems in social interpersonal relationships and in cognition complex social situations • Visual memory may be a relative Assess memory strength • To monitor the attention functions Problems in attention • John seems to perform better when Problems in abstract the instruction is clear and familiar tasks

  15. =IQ Score?

  16. Demographic Characteristics n 356 Age (mean) 22.6±8.3 Age range 8.06-52.44 Male / Female (%) 51/49 FSIQ 77.03±12.05

  17. CNB - IQ 90 80 70 60 50 77,03 88,45 40 FSIQ GNP

  18. IQ CNB

  19. Neurocognitive evaluation should be… Reliable Thorough Comprehensive Can be used Can be used frequent if Efficient periodically needed

  20. Conclusions • The CNB can be used to assess efficiently neurocognitive performance in individuals with 22q11DS • The CNB can obtain a reliable proxy of general intelligence

  21. SIPS

  22. Risk for subthreshold psychotic symptoms by association to neurocognitive abilities Adjusted probability for the emergence of baseline negative subthreshold psychotic syndrome 22q11DS WS p GNP (general 0.74 0.26 .008 neurocognitive performance ) Executive Function 0.70 0.37 .040 Social Cognition 0.67 0.38 .050

  23. Neurocognitive trajectories and effect of medication in 22q11DS • Deficits in GNP predicted negative subthreshold psychotic syndrome in 22q11DS • There was a significant progress for individuals with 22q11DS under psychiatric medication Also, medication treatments is a significant predictor for GNP change.

  24. Conclusions • The CNB is a potentially a useful tool for identifying cognitive deficits associated with psychosis disorders in 22q11DS.

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