behavioral phenotype

行为表型
  • 文章类型: Observational Study
    背景:移动健康技术和机器学习方法的进步已经扩展了肥胖治疗中行为表型的框架,以探索时间变化的动力学。
    目的:本研究旨在调查肥胖干预过程中行为变化的动态,并使用混合机器学习方法确定与体重变化相关的行为表型。
    方法:总共,88名年龄和性别特定BMI≥85百分位数的儿童和青少年(8-16岁;62/88,男性占71%)参加了研究。根据干预期间遵守5个行为目标的时间动态,使用混合2阶段程序鉴定行为表型。通过从每个参与者的功能数据中提取主成分因子,使用功能主成分分析来确定行为表型。弹性网络回归用于研究行为表型与体重变化之间的关联。
    结果:功能主成分分析确定了2种独特的行为表型,这被称为高或低依从性水平和晚期或早期行为改变。第一种表型解释了每个因素的47%至69%,而第二种表型解释了总行为动力学的11%至17%。高或低依从性水平与体重变化有关(β=-.0766,95%CI-.1245至-.0312),水果和蔬菜摄入量(β=.1770,95%CI.0642-.2561),运动(β=-.0711,95%CI-.0892至-.0363),饮用水(β=-.0203,95%CI-.0218至-.0123),和睡眠时间。晚期或早期行为变化与屏幕时间变化的体重减轻显着相关(β=.0440,95%CI.0186-.0550),水果和蔬菜摄入量(β=-.1177,95%CI-.1441至-.0680),和睡眠持续时间(β=-.0991,95%CI-.1254至-.0597)。
    结论:总体依从性水平,或高或低坚持水平,与健康相关的行为逐渐改善或恶化,或者后期或早期的行为改变,与肥胖相关的独特生活方式行为与体重减轻的相关性不同。大部分健康相关行为在整个干预过程中保持稳定,这表明卫生保健专业人员应密切监测干预早期阶段的变化。
    背景:临床研究信息科学KCT0004137;https://tinyurl.com/ytxr83ay。
    Advancements in mobile health technologies and machine learning approaches have expanded the framework of behavioral phenotypes in obesity treatment to explore the dynamics of temporal changes.
    This study aimed to investigate the dynamics of behavioral changes during obesity intervention and identify behavioral phenotypes associated with weight change using a hybrid machine learning approach.
    In total, 88 children and adolescents (ages 8-16 years; 62/88, 71% male) with age- and sex-specific BMI ≥85th percentile participated in the study. Behavioral phenotypes were identified using a hybrid 2-stage procedure based on the temporal dynamics of adherence to the 5 behavioral goals during the intervention. Functional principal component analysis was used to determine behavioral phenotypes by extracting principal component factors from the functional data of each participant. Elastic net regression was used to investigate the association between behavioral phenotypes and weight change.
    Functional principal component analysis identified 2 distinctive behavioral phenotypes, which were named the high or low adherence level and late or early behavior change. The first phenotype explained 47% to 69% of each factor, whereas the second phenotype explained 11% to 17% of the total behavioral dynamics. High or low adherence level was associated with weight change for adherence to screen time (β=-.0766, 95% CI -.1245 to -.0312), fruit and vegetable intake (β=.1770, 95% CI .0642-.2561), exercise (β=-.0711, 95% CI -.0892 to -.0363), drinking water (β=-.0203, 95% CI -.0218 to -.0123), and sleep duration. Late or early behavioral changes were significantly associated with weight loss for changes in screen time (β=.0440, 95% CI .0186-.0550), fruit and vegetable intake (β=-.1177, 95% CI -.1441 to -.0680), and sleep duration (β=-.0991, 95% CI -.1254 to -.0597).
    Overall level of adherence, or the high or low adherence level, and a gradual improvement or deterioration in health-related behaviors, or the late or early behavior change, were differently associated with weight loss for distinctive obesity-related lifestyle behaviors. A large proportion of health-related behaviors remained stable throughout the intervention, which indicates that health care professionals should closely monitor changes made during the early stages of the intervention.
    Clinical Research Information Science KCT0004137; https://tinyurl.com/ytxr83ay.
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  • 文章类型: Journal Article
    随着受CorneliadeLange综合征(CdLS)和Rubinstein-Taybi综合征(RSTS)影响的儿童的成长,行为表型发生了一些变化。然而,以前的研究依赖于横断面研究设计,将不同综合征队列的年龄相关比较,以探索年龄依赖性变化.我们的目标是概述在CdLS和RSTS的寿命中神经精神功能的变化途径,通过设置纵向学习设计。样本包括14名CdLS患者和15名RSTS患者。在两个不同的时间点进行评估。我们的发现强调,随着智商(IQ)得分从T0降低到T1,CdLS的认知特征呈恶化趋势,而RSTS随着时间的推移表现出稳定的智商。与CdLS相比,受RSTS影响的患者在沟通方面表现出更大的改善,日常生活技能,社交能力,和整个生命周期的运动技能。两种综合症都报告了行为和情绪困难的上升趋势,即使CdLS与RSTS患者相比表现出显着和主要的恶化。意识到早期的功能失调模式可能为后来的神经精神损伤铺平道路是计划预防性干预措施的第一步。
    Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome (RSTS). However, previous research relied on a cross-sectional study design turning into age-related comparisons of different syndromic cohorts to explore age-dependent changes. We aim to outline the variating pathways of the neuropsychiatric functioning across the lifespan in CdLS and RSTS, through the setting up of a longitudinal study design. The sample included 14 patients with CdLS and 15 with RSTS. The assessments were carried out in two different timepoints. Our findings highlight that the cognitive profile of CdLS is subjected to a worsening trend with decreasing Intellectual Quotient (IQ) scores from T0 to T1, whereas RSTS shows a stable IQ over time. Patients affected by RSTS show greater improvements compared to CdLS in communication, daily living skills, social abilities, and motor skills across the lifespan. Both syndromes report an upward trend in behavioral and emotional difficulties even if CdLS exhibit a significant and major deterioration compared to individuals with RSTS. Being aware of the early dysfunctional patterns which might pave the way for later neuropsychiatric impairments is the first step for planning preventive interventions.
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  • 文章类型: Journal Article
    在过去的十年中,关于自闭症谱系障碍(ASD)和威廉姆斯-贝伦综合征(WBS)个体之间适应性特征的比较研究越来越多,显示共享和特定于综合征的自适应轨迹。研究表明,不同条件下的全球适应性特征相似,而学龄前儿童在沟通和社交的特定子领域中发现了一些差异。然而,大多数关注这两种情况下适应性功能差异的研究采用了横截面设计.据我们所知,没有研究探索适应性功能随时间的差异和相似性。
    我们比较了两个ASD和WBS儿童和青少年样本之间通过Vineland适应性行为量表(VABS)测量的适应性功能的纵向数据,与首次评估时的实际年龄和认知/发育水平相匹配。
    我们在全球适应水平上没有发现任何差异,在第一次评估和随着时间的推移。然而,招聘时,社会化和沟通水平出现了显著差异。纵向数据显示,随着时间的推移,只有社会化领域保持不同,WBS患者的功能比ASD患者更好。从发展的角度讨论了疾病之间适应性功能的共享和不同模式的结果,从而有助于实施针对特定年龄的干预措施。
    The last decade has seen a growing number of comparative studies on adaptive profiles between individuals with autism spectrum disorder (ASD) and Williams-Beuren syndrome (WBS), showing shared and syndrome-specific adaptive trajectories. Studies have revealed similarities in global adaptive profiles across conditions, while some differences have been found in preschoolers on the specific sub-domains of communication and socialization. However, the majority of studies that have focused on the differences in adaptive functioning across these two conditions used a cross-sectional design. To the best of our knowledge, there are no studies exploring the differences and similarities of adaptive functioning over time.
    We compared longitudinal data of adaptive functioning measured by Vineland Adaptive Behavior Scales (VABS) between two samples of children and adolescents with ASD and WBS, matched for chronological age and cognitive/developmental level at the time of the first evaluation.
    We did not find any difference on the global adaptive level, both at the first evaluation and over time. However, significant differences emerged on the socialization and communication levels at the time of recruitment. Longitudinal data show that only the socialization domain remains different over time, with individuals with WBS having better functioning than those with ASD. The results on shared and distinct patterns of adaptive functioning between disorders are discussed from a developmental perspective, thus contributing to the implementation of age-specific interventions.
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  • 文章类型: Journal Article
    Frequency and type of incontinence and variables associated with incontinence were assessed in individuals with Angelman syndrome (AS; n=71) and in a matched control group (n=69) consisting of individuals with non-specific intellectual disability (ID). A Dutch version of the \"Parental Questionnaire: Enuresis/Urinary Incontinence\" (Beetz, von Gontard, & Lettgen, 1994) was administered and information on primary caretakers\' perspectives regarding each individual\'s incontinence was gathered. Results show that diurnal incontinence and fecal incontinence during the day more frequently occurred in the control group than in the AS group. In both groups, nocturnal enuresis was the most common form of incontinence. More incontinence was seen in individuals with AS who were younger, had a lower level of adaptive functioning and/or had epilepsy. Individuals with AS were able to stay dry for longer periods of time than the controls and often showed both in-toilet urination and urinary accidents during the day, whereas accidents and correct voids during the day were more set apart in the control group. Also, persons with AS had a lower micturition frequency implying possible voiding postponement. Both groups showed high rates of LUTS (lower urinary tract symptoms) possibly indicative of functional bladder disorders such as voiding postponement, dysfunctional voiding, or even an underactive bladder. In general, most primary caretakers reported severe intellectual disability as the main cause for urinary incontinence. Based on these results incontinence does not appear to be part of the behavioral phenotype of Angelman syndrome. Therefore, pediatric or urologic diagnostics and treatment are recommended for all persons with incontinence and intellectual disability. Further implications for practice and research are given.
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