[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-1-en-105":3,"doc-seo-563278-105":53,"doc-detail-563278-en":126},{"code":4,"msg":5,"data":6},0,"success",[7,14,19,24,29,34,39,44,49],{"id":8,"doc_module":9,"doc_module_name":10,"category_name":11,"show_sort_weight":12,"slug":13},11,1,"Template","Presentations",90,"presentations",{"id":15,"doc_module":9,"doc_module_name":10,"category_name":16,"show_sort_weight":17,"slug":18},12,"Resumes",80,"resumes",{"id":20,"doc_module":9,"doc_module_name":10,"category_name":21,"show_sort_weight":22,"slug":23},14,"Invoices",70,"invoices",{"id":25,"doc_module":9,"doc_module_name":10,"category_name":26,"show_sort_weight":27,"slug":28},15,"Posters",60,"posters",{"id":30,"doc_module":9,"doc_module_name":10,"category_name":31,"show_sort_weight":32,"slug":33},16,"Social Media",50,"social-media",{"id":35,"doc_module":9,"doc_module_name":10,"category_name":36,"show_sort_weight":37,"slug":38},17,"Forms",40,"forms",{"id":40,"doc_module":9,"doc_module_name":10,"category_name":41,"show_sort_weight":42,"slug":43},18,"Letters",30,"letters",{"id":45,"doc_module":9,"doc_module_name":10,"category_name":46,"show_sort_weight":47,"slug":48},21,"Paper Templates",5,"papers-templates",{"id":50,"doc_module":9,"doc_module_name":10,"category_name":51,"show_sort_weight":4,"slug":52},158,"General","general-158",{"code":4,"msg":54,"data":55},"ok",{"site_id":56,"language":57,"slug":58,"title":59,"keywords":60,"description":61,"schema_data":62,"social_meta":119,"head_meta":121,"extra_data":123,"updated_unix":125},105,"en","a-normative-chart-for-cognitive-development-in-a-genetically-selected-population","A normative chart for cognitive development in a genetically selected population","","A normative chart is developed to map variant-specific cognitive development in individuals with 22q11.2 deletion syndrome (22q11DS). IQ data from 1365 individuals are used to construct normative trajectories for Full Scale, Verbal, and Performance IQ, enabling calculation of Z-scores and longitudinal change (delta Z-IQ-scores). In 708 longitudinal participants, variant-specific IQ-Z-scores closely fit expected values and reveal adult decline. Compared with standard IQ, this method reduces required schizophrenia-risk sample size by 30% (p \u003C 0.01) and supports clinically informative identification of individuals deviating from expected trajectories.",{"@graph":63,"@context":118},[64,80,101],{"@type":65,"itemListElement":66},"BreadcrumbList",[67,71,74,77],{"item":68,"name":69,"@type":70,"position":9},"https://docshare.wps.com","Home","ListItem",{"item":72,"name":10,"@type":70,"position":73},"https://docshare.wps.com/template/",2,{"item":75,"name":51,"@type":70,"position":76},"https://docshare.wps.com/template/general/",3,{"item":78,"name":59,"@type":70,"position":79},"https://docshare.wps.com/template/a-normative-chart-for-cognitive-development-in-a-genetically-selected-population/563278/",4,{"url":78,"name":59,"@type":81,"image":82,"author":87,"headline":59,"publisher":90,"fileFormat":93,"inLanguage":57,"description":61,"dateModified":94,"datePublished":95,"encodingFormat":93,"isAccessibleForFree":96,"interactionStatistic":97},"DigitalDocument",{"url":83,"@type":84,"width":85,"height":86},"https://docshare.wps.com/thumbnails/a-normative-chart-for-cognitive-development-in-a-genetically-selected-population/563278.png","ImageObject",442,249,{"name":88,"@type":89},"8796093062539","Person",{"url":68,"name":91,"@type":92},"DocShare","Organization","application/pdf","2026-10-27","2026-10-12",true,{"@type":98,"interactionType":99,"userInteractionCount":47},"InteractionCounter",{"@type":100},"ViewAction",{"@type":102,"mainEntity":103},"FAQPage",[104,110,114],{"name":105,"@type":106,"acceptedAnswer":107},"What is the main goal of the normative chart in the study?","Question",{"text":108,"@type":109},"To demonstrate a variant-specific normative chart that characterizes cognitive development in people with 22q11.2 deletion syndrome and supports clinically informative interpretation of IQ data.","Answer",{"name":111,"@type":106,"acceptedAnswer":112},"How were the variant-specific normative data constructed?",{"text":113,"@type":109},"The authors used IQ data from 1365 individuals with 22q11DS to build normative charts for Full Scale, Verbal, and Performance IQ, then calculated Z-scores for each IQ datapoint.",{"name":115,"@type":106,"acceptedAnswer":116},"What effect does using variant-specific IQ Z-scores have on sample size for detecting schizophrenia associations?",{"text":117,"@type":109},"Using variant-specific IQ-Z-scores resulted in a 30% decrease in the required sample size compared with a standard IQ-based approach (p \u003C 0.01).","https://schema.org",{"og:url":78,"og:type":120,"og:title":59,"og:site_name":91,"og:description":61},"article",{"robots":122,"canonical":78},"index,follow",{"doc_id":124,"site_id":56},563278,1792118888,{"code":4,"msg":5,"data":127},{"doc_id":124,"user_id":128,"nickname":88,"user_avatar":60,"doc_module":9,"category_id":50,"category_name":51,"doc_title":59,"doc_description":61,"doc_content":129,"file_id":130,"file_url":131,"file_type":132,"file_size":133,"view_count":47,"is_deleted":4,"is_public":9,"is_downloadable":9,"audit_status":9,"page_count":134,"language":135,"language_code":57,"site_id":56,"html_lang":57,"table_of_contents":136,"faqs":137,"seo_title":138,"seo_description":61,"update_tm":139,"read_time":76},8796093062539,"UCLA  \nUCLA Previously Published Works  \nTitle  \nA normative chart for cognitive development in a genetically selected population  \nPermalink  \n[https://escholarship.org/uc/item/1b91b5bs](https://escholarship.org/uc/item/1b91b5bs)  \nJournal  \nNeuropsychopharmacology, 47(7)  \nISSN  \n0893-133X  \nAuthors  \nFiksinski, Ania M  \nBearden, Carrie E Bassett, Anne Set al.  \nPublication Date  \n2022-06-01  \nDOI  \n10.1038/s41386-021-00988-6  \nPeer reviewed  \n[eScholarship.org](eScholarship.org) Powered by the California Digital Library  \nUniversity of California  \n[www.nature.com/npp](www.nature.com/npp)  \nA normative chart for cognitive development in a genetically selected population  \nAnia M. Fiksinski 1,2,3,4, Carrie E. Bearden 5, Anne S. Bassett 6,7,8,9, René S. Kahn 10,11, Janneke R. Zinkstok10, Stephen R. Hooper12, Wanda Tempelaar2,8, Donna McDonald-McGinn 13,14, Ann Swillen15,16, Beverly Emanuel 13, Bernice Morrow17, Raquel Gur18, Eva Chow7,8, Marianne van den Bree 19, Joris Vermeesch 15, Stephen Warren20, Michael Owen19, Therese van Amelsvoort4, Stephan Eliez21, Doron Gothelf22,23, Celso Arango24, Wendy Kates25, Tony Simon26, Kieran Murphy27, Gabriela Repetto28, Damian Heine Suner29, Stefano Vicari30, Joseph Cubells20,31, Marco Armando21, Nicole Philip32,33, Linda Campbell34, Sixto Garcia-Minaur35, Maude Schneider21, Vandana Shashi36, the 22q11DS International Consortium on Brain and Behavior, Jacob Vorstman8,10,37 and Elemi J. Breetvelt 37  \n|  |  |  |\n| --- | --- | --- |\n|  | Certain pathogenic genetic variants impact neurodevelopment and cause deviations from typical cognitive trajectories. Understanding variant-specific cognitive trajectories is clinically important for informed monitoring and identifying patients at risk for comorbid conditions. Here, we demonstrate a variant-specific normative chart for cognitive development for individuals with 22q11.2 deletion syndrome (22q11DS). We used IQ data from 1365 individuals with 22q11DS to construct variant-specific normative charts for cognitive development (Full Scale, Verbal, and Performance IQ) . This allowed us to calculate Z-scores for each IQ datapoint. Then, we calculated the change between first and last available IQ assessments (delta Z-IQ-scores) for each individual with longitudinal IQ data (n = 708) . We subsequently investigated whether using the variant-specific IQ-Z-scores would decrease required sample size to detect an effect with schizophrenia risk, as compared to standard IQ-scores. The mean Z-IQ-scores for FSIQ, VIQ, and PIQ were close to 0, indicating that participants had IQ-scores as predicted by the normative chart. The mean delta-Z-IQscores were equally close to 0, demonstrating a good fit of the normative chart and indicating that, as a group, individuals with 22q11DS show a decline in IQ-scores as they grow into adulthood. Using variant-specific IQ-Z-scores resulted in 30% decrease of required sample size, as compared to the standard IQ-based approach, to detect the association between IQ-decline and schizophrenia (p \u003C 0.01) . Our findings suggest that using variant-specific normative IQ data significantly reduces required sample size in a research context, and may facilitate a more clinically informative interpretation of IQ data. This approach allowsidentification of individuals that deviate from their expected, variant-specific, trajectory. This group may be at increased risk for |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n| comorbid conditions, such as schizophrenia in the case of 22q11DS. |  |  |\n|  | Neuropsychopharmacology (2022) 47:1379–1386; [https://doi.org/10.1038/s41386-021-00988-6](https://doi.org/10.1038/s41386-021-00988-6) |  |\n\n1Wilhelmina Children’s Hospital & University Medical Center Utrecht, Brain Center, Utrecht, The Netherlands; 2Centre for Addiction and Mental Health, Toronto, ON, Canada; 3The Dalglish Family 22q Clinic for 22q1","cbCaieofGHF7E4HF","https://ap.wps.com/l/cbCaieofGHF7E4HF","pdf",1263730,9,"English","# Abstract","[{\"question\":\"What is the main goal of the normative chart in the study?\",\"answer\":\"To demonstrate a variant-specific normative chart that characterizes cognitive development in people with 22q11.2 deletion syndrome and supports clinically informative interpretation of IQ data.\"},{\"question\":\"How were the variant-specific normative data constructed?\",\"answer\":\"The authors used IQ data from 1365 individuals with 22q11DS to build normative charts for Full Scale, Verbal, and Performance IQ, then calculated Z-scores for each IQ datapoint.\"},{\"question\":\"What effect does using variant-specific IQ Z-scores have on sample size for detecting schizophrenia associations?\",\"answer\":\"Using variant-specific IQ-Z-scores resulted in a 30% decrease in the required sample size compared with a standard IQ-based approach (p \\u003c 0.01).\"}]","A normative chart for cognitive development in a genetically selected population | PDF",1791826088]