Grieco Julie, Pulsifer Margaret, Seligsohn Karen, Skotko Brian, Schwartz Alison
Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):135-49. doi: 10.1002/ajmg.c.31439. Epub 2015 May 18.
Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific developmental periods. These profiles are distinct relative to others with similar intellectual disability (ID) and reflect underlying neuroanatomic findings, providing support for a distinctive phenotypic profile. This review updates what is known about the cognitive and behavioral phenotypes associated with DS across the lifespan. In early childhood, mild deviations from neurotypically developing trajectories emerge. By school-age, delays become pronounced. Nonverbal skills remain on trajectory for mental age, whereas verbal deficits emerge and persist. Nonverbal learning and memory are strengths relative to verbal skills. Expressive language is delayed relative to comprehension. Aspects of language skills continue to develop throughout adolescence, although language skills remain compromised in adulthood. Deficits in attention/executive functions are present in childhood and become more pronounced with age. Characteristic features associated with DS (cheerful, social nature) are personality assets. Children are at a lower risk for psychopathology compared to other children with ID; families report lower levels of stress and a more positive outlook. In youth, externalizing behaviors may be problematic, whereas a shift toward internalizing behaviors emerges with maturity. Changes in emotional/behavioral functioning in adulthood are typically associated with neurodegeneration and individuals with DS are higher risk for dementia of the Alzheimer's type. Individuals with DS possess many unique strengths and weaknesses that should be appreciated as they develop across the lifespan. Awareness of this profile by professionals and caregivers can promote early detection and support cognitive and behavioral development.
患有唐氏综合征(DS)的个体通常具有独特的神经认知和神经行为特征,这些特征在特定的发育阶段显现出来。相对于其他患有类似智力障碍(ID)的个体,这些特征是不同的,并且反映了潜在的神经解剖学发现,为独特的表型特征提供了支持。本综述更新了关于唐氏综合征在整个生命周期中相关的认知和行为表型的已知信息。在幼儿期,与典型神经发育轨迹相比出现了轻微偏差。到学龄期,发育延迟变得明显。非语言技能与心理年龄保持同步发展,而语言缺陷则出现并持续存在。相对于语言技能,非语言学习和记忆是优势。表达性语言相对于理解能力有所延迟。尽管语言技能在成年期仍存在缺陷,但语言技能在整个青春期仍在持续发展。注意力/执行功能缺陷在儿童期就已存在,并随着年龄增长而更加明显。与唐氏综合征相关的特征(性格开朗、善于社交)是个人优势。与其他患有智力障碍的儿童相比,唐氏综合征儿童患精神病理学的风险较低;家庭报告的压力水平较低,前景更为积极。在青少年时期,外化行为可能会成为问题,而随着成熟,会出现向内化行为的转变。成年期情绪/行为功能的变化通常与神经退行性变有关,唐氏综合征患者患阿尔茨海默病型痴呆的风险更高。唐氏综合征患者在其一生的发展过程中具有许多独特的优势和劣势,应该得到重视。专业人员和照顾者对这一特征的认识可以促进早期发现,并支持认知和行为发展。