Development of Behavioral and Neural Biomarkers for Autism Spectrum Disorder Using a Genetically Defined Subtype

使用基因定义的亚型开发自闭症谱系障碍的行为和神经生物标志物

基本信息

项目摘要

 DESCRIPTION (provided by applicant): Autism spectrum disorder (ASD) affects 1 in 68 children (CDC, 2014) with known genetic causes accounting for 10-15% of cases (Devlin & Scherer, 2012; Gaugler et al., 2014). Approximately 2% of severely affected children with ASD have deletions or point mutations in the SHANK3 gene, which results in Phelan- McDermid syndrome (PMS) (Betancur & Buxbaum, 2013; Leblond et al, 2014). SHANK3 is a scaffolding protein in glutamate synapses (Bodzdagi et al., 2013; Yang et al., 2012). Over 80% of children with PMS meet Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria for ASD and intellectual disability and are minimally verbal (Soorya et al., 2013). Sensory reactivity abnormalities such as hypo- and hyper-reactivity represent a new DSM-5 criterion for ASD. While sensory reactivity issues have been shown in idiopathic forms of ASD (Tomcheck & Dunn, 1997; Tavassoli et al., 2012, 2013), no studies have investigated sensory reactivity abnormalities in severely affected children, including those with PMS. Identifying sensory reactivity abnormalities is especially important in such children as they cannot verbally describe their sensory experiences. In idiopathic forms of ASD, vision is the most researched sensory modality (Simmons et al., 2009; Tavassoli et al., 2011; Weinger et al., 2014). Moreover our pilot studies suggest that hyporeactivity in the visual domain is common in children with PMS. Preliminary data also show that behavioral and electrophysiological measures of sensory reactivity may have the capacity to objectively differentiate between children with (1) PMS, (2) idiopathic ASD, and (3) typically developing controls. The aim of the proposed project is to develop behavioral and neural biomarkers of sensory reactivity in ASD, which are feasible in severely affected individuals (including PMS) and can be translated to other genetically defined subtypes and across sensory modalities. This project aims to develop reliable measures of behavioral and neural sensory reactivity within the visual system of children with PMS and ASD more broadly. The knowledge gained will provide an enhanced understanding of how one sensory system is affected in PMS and ASD, while assessing the relationship with neural functioning. This study is important because it seeks to develop biomarkers that can be applied to other clinical populations of severely affected individuals.
 描述(由申请人提供):自闭症谱系障碍(ASD)影响68名儿童中的1名(CDC,2014),已知遗传原因占病例的10-15%(Devlin &谢勒,2012; Gaugler et al.,2014年)。大约2%的严重受影响的ASD儿童在SHANK 3基因中具有缺失或点突变,这导致M-M综合征(PMS)(Betancur & Buxbaum,2013; Leblond等人,2014)。SHANK 3是谷氨酸突触中的支架蛋白(Bodzdagi等人,2013; Yang等人,2012年)。超过80%的PMS儿童符合ASD和智力残疾的精神障碍诊断和统计手册(DSM)标准,并且语言能力最低(Soorya等人,2013年)。感觉反应性异常,如低反应性和高反应性代表了ASD的新DSM-5标准。虽然在特发性ASD形式中已经显示出感觉反应性问题(Tomcheck和Dunn,1997; Tavassoli等人,2012年,2013年),没有研究调查了严重影响儿童的感觉反应异常,包括那些患有PMS的儿童。识别感觉反应异常对这些儿童尤其重要,因为他们不能用语言描述他们的感觉体验。在ASD的特发性形式中,视觉是研究最多的感觉形态(Simmons等人,2009; Tavassoli等人,2011; Weinger等人,2014年)。此外,我们的初步研究表明,在视觉领域的低反应性是常见的经前综合征儿童。初步数据还表明,感觉反应的行为和电生理测量可能有能力客观区分患有(1)PMS,(2)特发性ASD和(3)典型发育对照的儿童。 拟议项目的目的是开发ASD感觉反应的行为和神经生物标志物,这些生物标志物在严重受影响的个体(包括PMS)中是可行的,并且可以翻译为其他遗传定义的亚型和跨感觉模式。该项目旨在更广泛地开发PMS和ASD儿童视觉系统内行为和神经感觉反应的可靠措施。所获得的知识将提供一个如何在PMS和ASD的感觉系统受到影响,同时评估与神经功能的关系增强的理解。这项研究很重要,因为它旨在开发可应用于其他严重受影响个体临床人群的生物标志物。

项目成果

期刊论文数量(2)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Objective frequency analysis of transient visual evoked potentials in autistic children.
自闭症儿童瞬态视觉诱发电位的客观频率分析。
Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials.
使用瞬态视觉诱发电位快速客观地评估自闭症谱系障碍的神经功能。
  • DOI:
    10.1371/journal.pone.0164422
  • 发表时间:
    2016
  • 期刊:
  • 影响因子:
    3.7
  • 作者:
    Siper,PaigeM;Zemon,Vance;Gordon,James;George-Jones,Julia;Lurie,Stacey;Zweifach,Jessica;Tavassoli,Teresa;Wang,ATing;Jamison,Jesslyn;Buxbaum,JosephD;Kolevzon,Alexander
  • 通讯作者:
    Kolevzon,Alexander
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Joseph D. Buxbaum其他文献

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
  • DOI:
    10.1016/j.tins.2009.04.003
  • 发表时间:
    2009-07-01
  • 期刊:
  • 影响因子:
  • 作者:
    Catalina Betancur;Takeshi Sakurai;Joseph D. Buxbaum
  • 通讯作者:
    Joseph D. Buxbaum
Contribution of autosomal rare and emde novo/em variants to sex differences in autism
常染色体罕见及新发变异对自闭症性别差异的影响
  • DOI:
    10.1016/j.ajhg.2025.01.016
  • 发表时间:
    2025-03-06
  • 期刊:
  • 影响因子:
    8.100
  • 作者:
    Mahmoud Koko;F. Kyle Satterstrom;Branko Aleksic;Mykyta Artomov;Mafalda Barbosa;Elisa Benetti;Catalina Betancur;Monica Biscaldi-Schafer;Anders D. Børglum;Harrison Brand;Alfredo Brusco;Joseph D. Buxbaum;Gabriele Campos;Simona Cardaropoli;Diana Carli;Angel Carracedo;Marcus C.Y. Chan;Andreas G. Chiocchetti;Brian H.Y. Chung;Brett Collins;Hilary Martin
  • 通讯作者:
    Hilary Martin
Familial confounding in the associations between maternal health and autism
母亲健康与自闭症之间关联中的家族混杂
  • DOI:
    10.1038/s41591-024-03479-5
  • 发表时间:
    2025-01-31
  • 期刊:
  • 影响因子:
    50.000
  • 作者:
    Vahe Khachadourian;Elias Speleman Arildskov;Jakob Grove;Paul F. O’Reilly;Joseph D. Buxbaum;Abraham Reichenberg;Sven Sandin;Lisa A. Croen;Diana Schendel;Stefan Nygaard Hansen;Magdalena Janecka
  • 通讯作者:
    Magdalena Janecka
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
全基因组分析确定了 30 个与强迫症相关的基因位点
  • DOI:
    10.1038/s41588-025-02189-z
  • 发表时间:
    2025-05-13
  • 期刊:
  • 影响因子:
    29.000
  • 作者:
    Nora I. Strom;Zachary F. Gerring;Marco Galimberti;Dongmei Yu;Matthew W. Halvorsen;Abdel Abdellaoui;Cristina Rodriguez-Fontenla;Julia M. Sealock;Tim Bigdeli;Jonathan R. Coleman;Behrang Mahjani;Jackson G. Thorp;Katharina Bey;Christie L. Burton;Jurjen J. Luykx;Gwyneth Zai;Silvia Alemany;Christine Andre;Kathleen D. Askland;Julia Bäckman;Nerisa Banaj;Cristina Barlassina;Judith Becker Nissen;O. Joseph Bienvenu;Donald Black;Michael H. Bloch;Sigrid Børte;Rosa Bosch;Michael Breen;Brian P. Brennan;Helena Brentani;Joseph D. Buxbaum;Jonas Bybjerg-Grauholm;Enda M. Byrne;Judit Cabana-Dominguez;Beatriz Camarena;Adrian Camarena;Carolina Cappi;Angel Carracedo;Miguel Casas;Maria Cristina Cavallini;Valentina Ciullo;Edwin H. Cook;Jesse Crosby;Bernadette A. Cullen;Elles J. De Schipper;Richard Delorme;Srdjan Djurovic;Jason A. Elias;Xavier Estivill;Martha J. Falkenstein;Bengt T. Fundin;Lauryn Garner;Christina Gironda;Fernando S. Goes;Marco A. Grados;Jakob Grove;Wei Guo;Jan Haavik;Kristen Hagen;Kelly Harrington;Alexandra Havdahl;Kira D. Höffler;Ana G. Hounie;Donald Hucks;Christina Hultman;Magdalena Janecka;Eric Jenike;Elinor K. Karlsson;Kara Kelley;Julia Klawohn;Janice E. Krasnow;Kristi Krebs;Christoph Lange;Nuria Lanzagorta;Daniel Levey;Kerstin Lindblad-Toh;Fabio Macciardi;Brion Maher;Brittany Mathes;Evonne McArthur;Nathaniel McGregor;Nicole C. McLaughlin;Sandra Meier;Euripedes C. Miguel;Maureen Mulhern;Paul S. Nestadt;Erika L. Nurmi;Kevin S. O’Connell;Lisa Osiecki;Olga Therese Ousdal;Teemu Palviainen;Nancy L. Pedersen;Fabrizio Piras;Federica Piras;Sriramya Potluri;Raquel Rabionet;Alfredo Ramirez;Scott Rauch;Abraham Reichenberg;Mark A. Riddle;Stephan Ripke;Maria C. Rosário;Aline S. Sampaio;Miriam A. Schiele;Anne Heidi Skogholt;Laura G. Sloofman;Jan Smit;María Soler Artigas;Laurent F. Thomas;Eric Tifft;Homero Vallada;Nathanial van Kirk;Jeremy Veenstra-VanderWeele;Nienke N. Vulink;Christopher P. Walker;Ying Wang;Jens R. Wendland;Bendik S. Winsvold;Yin Yao;Hang Zhou;Arpana Agrawal;Pino Alonso;Götz Berberich;Kathleen K. Bucholz;Cynthia M. Bulik;Danielle Cath;Damiaan Denys;Valsamma Eapen;Howard Edenberg;Peter Falkai;Thomas V. Fernandez;Abby J. Fyer;J. M. Gaziano;Dan A. Geller;Hans J. Grabe;Benjamin D. Greenberg;Gregory L. Hanna;Ian B. Hickie;David M. Hougaard;Norbert Kathmann;James Kennedy;Dongbing Lai;Mikael Landén;Stéphanie Le Hellard;Marion Leboyer;Christine Lochner;James T. McCracken;Sarah E. Medland;Preben B. Mortensen;Benjamin M. Neale;Humberto Nicolini;Merete Nordentoft;Michele Pato;Carlos Pato;David L. Pauls;John Piacentini;Christopher Pittenger;Danielle Posthuma;Josep Antoni Ramos-Quiroga;Steven A. Rasmussen;Margaret A. Richter;David R. Rosenberg;Stephan Ruhrmann;Jack F. Samuels;Sven Sandin;Paul Sandor;Gianfranco Spalletta;Dan J. Stein;S. Evelyn Stewart;Eric A. Storch;Barbara E. Stranger;Maurizio Turiel;Thomas Werge;Ole A. Andreassen;Anders D. Børglum;Susanne Walitza;Kristian Hveem;Bjarne K. Hansen;Christian Rück;Nicholas G. Martin;Lili Milani;Ole Mors;Ted Reichborn-Kjennerud;Marta Ribasés;Gerd Kvale;David Mataix-Cols;Katharina Domschke;Edna Grünblatt;Michael Wagner;John-Anker Zwart;Gerome Breen;Gerald Nestadt;Jaakko Kaprio;Paul D. Arnold;Dorothy E. Grice;James A. Knowles;Helga Ask;Karin J. Verweij;Lea K. Davis;Dirk J. Smit;James J. Crowley;Jeremiah M. Scharf;Murray B. Stein;Joel Gelernter;Carol A. Mathews;Eske M. Derks;Manuel Mattheisen
  • 通讯作者:
    Manuel Mattheisen
Rigor in science and science reporting: updated guidelines for submissions to Molecular Autism
  • DOI:
    10.1186/s13229-018-0249-x
  • 发表时间:
    2019-02-22
  • 期刊:
  • 影响因子:
    5.500
  • 作者:
    Joseph D. Buxbaum;Simon Baron-Cohen;Evdokia Anagnostou;Chris Ashwin;Catalina Betancur;Bhismadev Chakrabarti;Jacqueline N. Crawley;Rosa A. Hoekstra;Patrick R. Hof;Meng-Chuan Lai;Michael V. Lombardo;Cynthia M. Schumann
  • 通讯作者:
    Cynthia M. Schumann

Joseph D. Buxbaum的其他文献

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{{ truncateString('Joseph D. Buxbaum', 18)}}的其他基金

Pooled Optical Imaging, Neurite Tracing, and Morphometry Across Perturbations (POINT-MAP).
混合光学成像、神经突追踪和扰动形态测量 (POINT-MAP)。
  • 批准号:
    10741188
  • 财政年份:
    2023
  • 资助金额:
    $ 21.19万
  • 项目类别:
Genomics of Autism in Latinx Ancestries
拉丁裔血统中自闭症的基因组学
  • 批准号:
    10582709
  • 财政年份:
    2022
  • 资助金额:
    $ 21.19万
  • 项目类别:
1/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorder
1/4 - 自闭症测序联盟:发现自闭症风险基因以及它们如何影响该疾病的核心特征
  • 批准号:
    10580072
  • 财政年份:
    2022
  • 资助金额:
    $ 21.19万
  • 项目类别:
Genomics of Autism in Latinx Ancestries
拉丁裔血统中自闭症的基因组学
  • 批准号:
    10357168
  • 财政年份:
    2022
  • 资助金额:
    $ 21.19万
  • 项目类别:
1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 Exomes
1/4 - 自闭症测序联盟:在 >50,000 个外显子组中发现自闭症基因
  • 批准号:
    9217160
  • 财政年份:
    2017
  • 资助金额:
    $ 21.19万
  • 项目类别:
Population-Based Autism Genetics and Environment Study
基于人群的自闭症遗传学和环境研究
  • 批准号:
    10132395
  • 财政年份:
    2014
  • 资助金额:
    $ 21.19万
  • 项目类别:
Prefrontal function in the Shank3-deficient rat: A first rat model for ASD
Shank3 缺陷大鼠的前额叶功能:第一个自闭症谱系障碍 (ASD) 大鼠模型
  • 批准号:
    8759307
  • 财政年份:
    2014
  • 资助金额:
    $ 21.19万
  • 项目类别:
Prefrontal function in the Shank3-deficient rat: A first rat model for ASD
Shank3 缺陷大鼠的前额叶功能:第一个自闭症谱系障碍 (ASD) 大鼠模型
  • 批准号:
    9093835
  • 财政年份:
    2014
  • 资助金额:
    $ 21.19万
  • 项目类别:
Population-Based Autism Genetics and Environment Study
基于人群的自闭症遗传学和环境研究
  • 批准号:
    9918463
  • 财政年份:
    2014
  • 资助金额:
    $ 21.19万
  • 项目类别:
Prefrontal function in the Shank3-deficient rat: A first rat model for ASD
Shank3 缺陷大鼠的前额叶功能:第一个自闭症谱系障碍 (ASD) 大鼠模型
  • 批准号:
    8880287
  • 财政年份:
    2014
  • 资助金额:
    $ 21.19万
  • 项目类别:

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