Brain and Behavior during Puberty in Klinefelter Syndrome.
克兰费尔特综合征青春期的大脑和行为。
基本信息
- 批准号:10658503
- 负责人:
- 金额:$ 33.11万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2018
- 资助国家:美国
- 起止时间:2018-08-17 至 2024-05-31
- 项目状态:已结题
- 来源:
- 关键词:AccelerationAddressAdministrative SupplementAdolescentAffectAffectiveAgeAmygdaloid structureAnteriorAnxietyAttentionAttention deficit hyperactivity disorderAwarenessBehaviorBehavioralBirthBrainCOVID-19 pandemicChildChildhoodClinicalClinical ManagementCognitionCognitiveDataData CollectionDevelopmentDiagnosisDiagnosticDiffusion Magnetic Resonance ImagingEmotionalEndocrinologistExecutive DysfunctionExhibitsFailureFunctional Magnetic Resonance ImagingGenetic DiseasesGoalsHomeHormonesImpairmentInferior frontal gyrusInsula of ReilInterdisciplinary StudyKlinefelter&aposs SyndromeKnowledgeLanguageLearningLearning DisabilitiesMental DepressionModificationMoodsMultimodal ImagingNeurophysiology - biologic functionOutcomeParentsParticipantPhenotypePsyche structurePubertyReportingResearchSample SizeSamplingSchoolsSeveritiesSocial FunctioningStructureSymptomsTestingTestosteroneTimeVariantVocationX Chromosomeanxiety symptomsbehavior measurementboysbrain behaviorcingulate cortexcohortcomparison groupdepressive symptomsemotional functioningemotional symptomexecutive functionexperienceflexibilityimprovedlongitudinal analysislongitudinal designmaleneuralneuroimagingperipubertal periodprospectiverecruitresponsesecondary analysissex chromosome aneuploidysocialsocial skillstestosterone replacement therapytimelinetreatment effect
项目摘要
Klinefelter syndrome (KS) is a highly prevalent sex chromosome aneuploidy that is characterized by an
increased number of X chromosomes (47,XXY) in phenotypic males. Despite its frequent occurrence (up to 1 in
500 male births), clinicians often have little awareness about the diagnosis or management of cognitive-behavioral
and social-emotional symptoms of KS, which can include impairments in language-based learning, deficits in
executive functioning and social skills, and increased symptoms of depression and anxiety. Parents of children
with KS often report greater concerns about these behavioral disturbances relative to commonly observed
physical features in KS (e.g., tall stature and testicular failure), since they have the potential to affect everyday
function at home and at school, and can negatively influence long term social and vocational outcomes.
Most males with KS first experience testicular failure (i.e., deficiency in testosterone and/or hypogonadal
symptoms) starting in mid-puberty. For this reason, pediatric endocrinologists typically prescribe testosterone
replacement therapy (TRT) starting around this time. However, there remain large gaps in knowledge and
fundamental questions about the effects of this treatment on neural and behavioral development in males with KS,
despite well-documented effects of testosterone on the brain and cognition in typically developing males.
The prospective, longitudinal, multi-time point research proposed here would be the first to assess the
effects of TRT, or lack thereof (i.e., testicular failure) on the development of the brain and behavior in adolescents
with KS using multiple levels of analysis (cognitive-behavioral and social-emotional functioning, multi-modal
imaging, pubertal status, hormone levels). Seventy boys with KS and a comparison group of 58 age- and IQ-
matched neurotypical boys between the ages of 8 and 17 years will be recruited and followed annually for up to
three years. Three specific aims will be addressed: (1) to examine the effects of TRT on executive function and
social-emotional symptoms in KS (2) to evaluate the effects of TRT on brain structure and function in KS and, (3)
to elucidate brain-behavior associations in KS (exploratory). We will also examine associations between the
severity testicular failure and brain and behavioral measures.
The multidisciplinary research we propose offers a first-of-its-kind opportunity to provide an increased
understanding of how TRT exerts its beneficial effect on cognition, behavior and mood in boys with KS during
the peripubertal period. The results of this study are intended to lead to the development of improved clinical
management of cognitive-behavioral and social-emotional symptoms in boys with KS while advancing our
general knowledge of neural changes underlying cognition, behavior and mood during male puberty.
Klinefelter综合征(KS)是一种高度流行的性染色体非整倍体,其特征是
表型男性X染色体(47,XXY)数量增加。尽管它经常发生(高达1英寸),
500名男婴),临床医生往往对认知行为的诊断或管理知之甚少
KS的社会情感症状,包括语言学习障碍,
执行功能和社交技能,以及抑郁和焦虑症状的增加。儿童的父母
与通常观察到的相比,
KS中的物理特征(例如,高身材和睾丸衰竭),因为它们有可能影响日常生活
在家庭和学校发挥作用,并可能对长期的社会和职业成果产生负面影响。
大多数患有KS的男性首先经历睾丸衰竭(即,睾酮缺乏和/或性腺功能减退
症状)开始于青春期中期。出于这个原因,儿科内分泌学家通常开睾酮
替代疗法(TRT)就是从这个时候开始的。然而,在知识和
关于这种治疗对KS男性神经和行为发育影响的基本问题,
尽管睾丸激素对正常发育的男性的大脑和认知有很好的影响。
这里提出的前瞻性、纵向、多时间点研究将是第一个评估
TRT的作用,或缺乏TRT的作用(即,睾丸衰竭)对青少年大脑和行为发育的影响
使用多层次分析(认知行为和社会情感功能,多模态
成像、青春期状态、激素水平)。70名患有KS的男孩和58岁的对照组,
将招募年龄在8至17岁之间的匹配的神经典型男孩,并每年进行随访,
三年三个具体目标将被解决:(1)检查TRT对执行功能的影响,
KS的社会情绪症状(2)评估TRT对KS脑结构和功能的影响,(3)
以阐明KS中的脑行为关联(探索性)。我们还将研究
严重程度睾丸衰竭和大脑和行为测量。
我们提出的多学科研究提供了一个前所未有的机会,
了解TRT如何对KS男孩的认知、行为和情绪产生有益影响,
青春期前期本研究的结果旨在导致开发改进的临床
在推进我们的研究的同时,
对男性青春期认知、行为和情绪的神经变化的一般认识。
项目成果
期刊论文数量(4)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure.
克兰费尔特综合征的执行功能障碍:与大脑激活和睾丸衰竭的关联。
- DOI:10.1210/clinem/dgad487
- 发表时间:2023
- 期刊:
- 影响因子:0
- 作者:Foland-Ross,LaraC;Ghasemi,Elnaz;LozanoWun,Vanessa;Aye,Tandy;Kowal,Karen;Ross,Judith;Reiss,AllanL
- 通讯作者:Reiss,AllanL
Multi-Table Differential Correlation Analysis of Neuroanatomical and Cognitive Interactions in Turner Syndrome.
- DOI:10.1007/s12021-017-9351-z
- 发表时间:2018-01
- 期刊:
- 影响因子:3
- 作者:Seiler C;Green T;Hong D;Chromik L;Huffman L;Holmes S;Reiss AL
- 通讯作者:Reiss AL
Cortical gray matter structure in boys with Klinefelter syndrome.
- DOI:10.1016/j.pscychresns.2021.111299
- 发表时间:2021-07-30
- 期刊:
- 影响因子:0
- 作者:Foland-Ross LC;Gil M;Shrestha SB;Chromik LC;Hong D;Reiss AL
- 通讯作者:Reiss AL
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Allan L Reiss其他文献
Allan L Reiss的其他文献
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{{ truncateString('Allan L Reiss', 18)}}的其他基金
Developmental trajectory of anxiety, avoidance, and arousal in girls with the FMR1 full mutation
FMR1 完全突变女孩的焦虑、回避和觉醒的发展轨迹
- 批准号:
10576763 - 财政年份:2022
- 资助金额:
$ 33.11万 - 项目类别:
Early life exposure to agricultural pesticides and functional brain imaging in young adults
年轻成人早期接触农业农药和功能性脑成像
- 批准号:
10303593 - 财政年份:2021
- 资助金额:
$ 33.11万 - 项目类别:
Early life exposure to agricultural pesticides and functional brain imaging in young adults
年轻成人早期接触农业农药和功能性脑成像
- 批准号:
10455703 - 财政年份:2021
- 资助金额:
$ 33.11万 - 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome
克兰费尔特综合征青春期的大脑和行为
- 批准号:
10197985 - 财政年份:2018
- 资助金额:
$ 33.11万 - 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome
克兰费尔特综合征青春期的大脑和行为
- 批准号:
9766339 - 财政年份:2018
- 资助金额:
$ 33.11万 - 项目类别:
Brain and Behavior during Puberty in Klinefelter Syndrome
克兰费尔特综合征青春期的大脑和行为
- 批准号:
10430045 - 财政年份:2018
- 资助金额:
$ 33.11万 - 项目类别:
Brain Development & Sex Chromosomes: Imaging of Turner and Klinefelter Syndromes
大脑发育
- 批准号:
8443566 - 财政年份:2013
- 资助金额:
$ 33.11万 - 项目类别:
Brain Development & Sex Chromosomes: Imaging of Turner and Klinefelter Syndromes
大脑发育
- 批准号:
8653989 - 财政年份:2013
- 资助金额:
$ 33.11万 - 项目类别:
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