Adverse childhood experiences associated with sleep in primary insomnia

The objectives were to explore the association between self-reported adverse childhood experiences (ACE) and sleep in adults suffering from primary insomnia and to examine the impact of presleep stress on this relationship. Fifty-nine patients with primary insomnia, aged 21-55 years, were administered the Childhood Trauma Questionnaire (CTQ) and then divided into two groups according to the achieved scores: with moderate/severe or low/no reports of ACE. The participants spent three consecutive nights in the sleep laboratory in order to record polysomnographic and actigraphic sleep parameters. A stress induction technique was administered by activating negative autobiographical memories immediately before sleep in the second or third night. Results show that 46% of the insomniac patients reported moderate to severe ACE. This group exhibited a significantly greater number of awakenings and more movement arousals compared to patients with low or no reports of ACE. Actigraphic data also indicated more disturbed sleep and increased nocturnal activity for the high-ACE group. On the other hand, no specific group differences were found with regard to stress condition. The results support the assumption that it is possible to identify a subgroup among patients with primary insomnia who has experienced severe maltreatment in childhood and adolescence. This subgroup appears to differ in several sleep parameters, indicating a more disturbed sleep compared to primary insomniacs with low or no reports of ACE. With regard to sleep-disturbing nightly patterns of arousal, parallels between individuals with high ACE and trauma victims as well as post-traumatic stress disorder-patients suggest themselves.     

Rapid clinical deterioration in an individual with Down syndrome

A small percentage of adolescents and young adults with Down syndrome experience a rapid and unexplained deterioration in cognitive, adaptive, and behavioral functioning. Currently, there is no standardized work‐up available to evaluate these patients or treat them. Their decline typically involves intellectual deterioration, a loss of skills of daily living, and prominent behavioral changes. Certain cases follow significant life events such as completion of secondary school with friends who proceed on to college or employment beyond the individual with DS. Others develop this condition seemingly unprovoked. Increased attention in the medical community to clinical deterioration in adolescents and young adults with Down syndrome could provide a framework for improved diagnosis, evaluation, and treatment. This report presents a young adult male with Down syndrome who experienced severe and unexplained clinical deterioration, highlighting specific challenges in the systematic evaluation and treatment of these patients. © 2016 Wiley Periodicals, Inc.

     

Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer

Huntington's disease (HD) is known to have a negative impact on family life. Offspring of HD patients may be exposed to adversity in childhood because of the parent's disease and its psychological consequences. BRCA1/2 hereditary breast and ovarian cancer (BRCA1/2) increases the risk for offspring of being exposed to parental disease or loss. Childhood adversity is associated with psychopathology and various other problems in later life. Adverse childhood experiences (ACEs) before age 16 were assessed in adults at 50% risk for HD (n = 74) or BRCA1/2 (n = 82) and in controls (n = 101), using the Negative Life Events Scale. Mean number and occurrence of ACEs were compared between groups. The odds of having experienced adversity in childhood were higher in HD offspring and BRCA1/2 offspring than in controls. HD offspring reported a higher mean number of ACEs than controls or BRCA1/2 offspring. In HD offspring, the prevalence of parental disease and parental dysfunction experienced before age 16 was higher than in controls. In BRCA1/2 offspring, the prevalence of parental loss before age 16 was higher than in controls. This study indicates that 53% of HD offspring and 45% of BRCA1/2 offspring are exposed to adversity in childhood or adolescence. The relevance of these findings for counseling in predictive testing programs, reproductive decision-making, and child rearing matters is discussed.     

Sleep disturbance mediates the association of adverse childhood experiences with mental health symptoms and functional impairment in US soldiers

Adverse childhood experiences (ACEs) can have long‐term impacts on a person's mental health, which extend into adulthood. There is a high prevalence of ACEs among service members. Further, service members also report frequently experiencing disrupted sleep. We hypothesized that disrupted sleep may serve a mechanistic function connecting ACEs to functional impairment and poorer mental health. In a cross‐sectional sample (n = 759), we found evidence for an indirect effect of ACEs on mental health outcomes through disrupted sleep. In a different sample using two time‐points (n = 410), we found evidence for an indirect effect of ACEs on changes in mental health outcomes and functional impairment during a reset period, through changes in disrupted sleep during the same period. Implications, limitations and future research directions are discussed.     

Adverse experiences,mental health,and substance use disorders as social determinants of incarceration

This study describes how incarcerated people understand: (a) Adverse experiences, mental health, and substance use disorders as determinants of incarceration, (b) the role of gender in impacting this understanding, and (c) strategies to prevent incarceration. Ecosocial theory provides a theoretical framework. Open-ended interviews were conducted (December 2016–January 2017) with recently incarcerated adults in Massachusetts state prisons. Participants described determinants of incarceration and incarceration prevention strategies. Interviews were coded thematically using inductive and deductive approaches. Thirty participants, evenly split by gender, reported themes across four levels: Society (lacking basic needs, discrimination), community (neighborhood factors), interpersonal (trauma), and individual (social isolation, mental health, substance use). However, there were variations in themes by gender. Proposed prevention strategies included early access to quality individualized cross-system services. In conclusion, findings highlight how investing in social and community building services could prevent incarceration. Policies can support these services by redirecting funding.     

Alzheimer's disease development in adults with Down syndrome: Caregivers' perspectives

Research about Alzheimer's disease (AD) in individuals with Down syndrome (DS) has predominantly focused on the underlying genetics and neuropathology. Few studies have addressed how AD risk impacts caregivers of adults with DS. This study aimed to explore the perceived impact of AD development in adults with DS on caregivers by assessing caregiver knowledge, concerns, effect on personal life, and resource utilization via a 40‐question (maximum) online survey. Survey distribution by four DS organizations and two DS clinics resulted in 89 caregiver respondents. Only 28 caregivers correctly answered all three AD knowledge questions. Caregivers gave an average AD concern rating of 5.30 (moderately concerned) and an average impact of possible diagnosis rating of 6.28 (very strong impact), which had a significant negative correlation with the age of the adult with DS (p = .009). Only 33% of caregivers reported utilization of resources to gain more information about the AD and DS association, with low levels of perceived usefulness. Our data reveal caregivers' misconceptions about AD development in DS, underutilization of available resources, and substantial concerns and perceived impacts surrounding a possible AD diagnosis. This study lays the foundation for how the medical community can better serve caregivers of aging adults with DS.     

Early development and regression in Rett syndrome

This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome.     

The interaction of exposure to adverse childhood and combat experiences on the current mental health of new post-9/11 veterans

Military veterans have greater exposure to adverse childhood experiences (ACEs) than civilians and many also encounter warfare exposures, which can increase the likelihood of mental health problems. The purpose of this study was to test an interaction between childhood traumas and warfare exposures on the mental health of a sample of nearly 10,000 new post-9/11 veterans. Results revealed that male veterans exposed to one or two ACEs, but no warfare, were more likely to experience anxiety, depression, suicidal thinking, and angry outbursts than the reference group (i.e., no ACEs and no warfare exposure). Female veterans exposed to one or two ACEs, but no warfare, were only more likely to experience suicidal thinking. Male and female veterans exposed to three or more ACEs and no warfare were more likely to experience probable posttraumatic stress disorder (PTSD), anxiety, depression, suicidality, and angry outbursts. Among those veterans who experienced corollaries of combat only (e.g., seeing someone killed or seriously wounded), male, but not female veterans were more likely to have probable PTSD, anxiety, and depression. Veterans exposed to warfare (i.e., combat and the corollaries of combat), irrespective of ACEs exposure, were the most likely to report mental health symptoms. Implications for community-based mental health services are discussed.     

唐氏综合征胎儿全基因组miRNA表达谱特征及其染色体分布

目的研究唐氏综合征(DS)胎儿全基因组miRNA表达谱及其编码基因的染色体分布特征。方法采用Illumina深度测序技术对6例DS胎儿(DS组)和6例正常胎儿脐带血(对照组)单个核细胞小RNA测序比对分析,确定DS全基因组miRNA表达谱及其编码基因的染色体分布特征。结果两组共检测到395种miRNA,编码于316个miRNA基因。其中149种miRNA在两组中的表达具有显著性差异(DS组中6种上调,143种下调),有51种miRNA特异性表达于对照组。21号染色体编码的14个miRNA基因在DS组中有1个(miR-802)高表达,4个(let-7c、miR-99a、miR-125b和miR-155)低表达,余下9个在两组样本中均未表达。两组样本miRNA基因表达的染色体分布趋于一致,但miRNA基因表达丰度的分布却不尽相同:DS组主要分布于8、16、17和21号染色体,对照组主要分布于3、8、14、16、17和22号染色体。结论 DS胎儿脐带血单个核细胞具有其特定的miRNA表达谱和染色体分布特征,表达丰度差异分布的染色体编码miRNA可能在DS各临床性状的形成过程中具有重要作用。     

边缘型人格障碍大学生的童年期创伤经历特征

目的:探讨边缘型人格障碍(borderline personality disorder,BPD)大学生的童年期创伤经历特征。方法:用人格诊断问卷第四版(Personality Diagnosis Questionnaire-4+,PDQ-4+)从3227名二、三年级本科生中筛选出边缘型阳性者293例,用个性障碍晤谈手册第四版(Personality Disorder Interview,PDI-IV)半定式晤谈法进一步筛选出BPD患者(得分5分)31例。从PDQ-4+划界分阴性的大学生中按年龄和性别比随机选取114例为对照组。用童年期创伤经历问卷(Childhood Trauma Questionnaire,CTQ-SF)对两组进行测评。结果:①在PDQ-4+筛查中,总体的边缘型分量表分为(2.62±1.70);31例BPD患者中女18例,男13例,女性CTQ-SF不良环境因子得分高于男性[(13.63±4.54)vs.(9.83±1.95),P0.01]。②BPD组的CTQ-SF各因子分均高于对照组[如,情感虐待(2.11±0.77)vs.(1.66±0.49),P0.01]。结论:大学生边缘型人格障碍者均有不同程度的童年期创伤经历,而且这种创伤经历存在性别差异。     

同源基因定量PCR方法快速产前诊断Down综合征

目的　探讨同源基因定量PCR方法在预防Down综合征患儿出生及无创性产前诊断中的应用价值。方法　对178名正常对照和38例Down综合征患者同时扩增位于2 1号染色体Down综合征致病关键区域的人肝型磷酸果糖激酶基因(PFKL- CH2 1)和位于1号染色体的人肌型磷酸果糖激酶基因(PFKM- CH1) ,计算机软件(Fluor Chem V2 .0 Stand- Alone)分析PFKM- CH1及PFKL- CH2 1产物的相对比。结果　正常人比值为1.4 0±0 .36 7,Down综合征患者比值为0 .4 6±0 .2 1,经t检验差异有统计学意义。结论　这种定量PCR方法不但能检测2 1三体型,也可检测易位型Down综合征。