PDF(Pubmed)
Abstract：
UNASSIGNED: The Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation (FXpm) is a genetic variant that is common in the general population and is associated with health symptoms and disease in adulthood. However, poor understanding of the clinical phenotype during childhood has hindered the development of clinical practice guidelines for screening and intervention. Given that social communication difficulties have been widely documented in adults with the FXpm and are linked with reduced psychosocial functioning, the present study aimed to characterize the communication profile of the FXpm during early childhood.
UNASSIGNED: Eighteen children with the FXpm who were identified through cascade testing (89%) or screening at birth (11%) were compared to 21 matched typically developing children, aged 2-4 years. Participants completed standardized assessments of language (Mullen Scales of Early Learning) and adaptive communication (Vineland Adaptive Behavior Scales-II). Social communication was rated from seminaturalistic interaction samples using the Brief Observation of Social Communication Change.
UNASSIGNED: Children with the FXpm showed delayed social communication development, with the magnitude of group differences highlighting social communication as a feature that distinguishes children with the FXpm from their peers (p = .046, ηp2 = .12). The groups did not differ on the standardized language and adaptive communication measures (ps > .297, ηp2s < .03).
UNASSIGNED: Early screening and treatment of social communication delays may be key to optimizing outcomes for children with the FXpm. Further research is needed to replicate findings in a larger sample, delineate the trajectory and consequences of social communication difficulties across the life span in the FXpm, and determine the potential epidemiological significance of FMR1 as a mediator of developmental communication differences within the general population.
UNASSIGNED: Eighteen children with the FXpm who were identified through cascade testing (89%) or screening at birth (11%) were compared to 21 matched typically developing children, aged 2-4 years. Participants completed standardized assessments of language (Mullen Scales of Early Learning) and adaptive communication (Vineland Adaptive Behavior Scales-II). Social communication was rated from seminaturalistic interaction samples using the Brief Observation of Social Communication Change.
UNASSIGNED: Children with the FXpm showed delayed social communication development, with the magnitude of group differences highlighting social communication as a feature that distinguishes children with the FXpm from their peers (p = .046, ηp2 = .12). The groups did not differ on the standardized language and adaptive communication measures (ps > .297, ηp2s < .03).
UNASSIGNED: Early screening and treatment of social communication delays may be key to optimizing outcomes for children with the FXpm. Further research is needed to replicate findings in a larger sample, delineate the trajectory and consequences of social communication difficulties across the life span in the FXpm, and determine the potential epidemiological significance of FMR1 as a mediator of developmental communication differences within the general population.
摘要：
■脆性X信使核糖核蛋白-1（FMR1）前突变（FXpm）是一种在普通人群中常见的遗传变异，并与成年后的健康症状和疾病相关。然而,儿童期对临床表型的认识不足阻碍了筛查和干预临床实践指南的制定.鉴于在FXpm的成年人中广泛记录了社会沟通困难，并且与心理社会功能降低有关，本研究旨在表征FXpm在幼儿期的交流特征.
■通过级联测试（89％）或出生时筛查（11％）确定的18名FXpm儿童与21名匹配的典型发育儿童进行了比较，2-4岁。参与者完成了语言（早期学习的Mullen量表）和自适应交流（VinelandAdaptiveBehaviorScales-II）的标准化评估。使用《社会传播变化的简要观察》从半自然主义的互动样本中对社会传播进行了评级。
■FXpm的儿童表现出延迟的社会交往发展，群体差异的大小突出了社会交流，这是一个将FXpm儿童与同龄人区分开来的特征（p=.046，ηp2=.12）。两组在标准化语言和适应性沟通措施上没有差异（ps>.297，ηp2s<.03）。
早期筛查和治疗社交延迟可能是优化FXpm儿童预后的关键。需要进一步的研究来复制更大样本中的发现，在FXpm中描绘整个生命周期中社会交往困难的轨迹和后果，并确定FMR1作为一般人群中发育沟通差异的中介者的潜在流行病学意义。
■通过级联测试（89％）或出生时筛查（11％）确定的18名FXpm儿童与21名匹配的典型发育儿童进行了比较，2-4岁。参与者完成了语言（早期学习的Mullen量表）和自适应交流（VinelandAdaptiveBehaviorScales-II）的标准化评估。使用《社会传播变化的简要观察》从半自然主义的互动样本中对社会传播进行了评级。
■FXpm的儿童表现出延迟的社会交往发展，群体差异的大小突出了社会交流，这是一个将FXpm儿童与同龄人区分开来的特征（p=.046，ηp2=.12）。两组在标准化语言和适应性沟通措施上没有差异（ps>.297，ηp2s<.03）。
早期筛查和治疗社交延迟可能是优化FXpm儿童预后的关键。需要进一步的研究来复制更大样本中的发现，在FXpm中描绘整个生命周期中社会交往困难的轨迹和后果，并确定FMR1作为一般人群中发育沟通差异的中介者的潜在流行病学意义。
