Maternal interview reports of family history of birth defects: Evaluation from a population-based case-control study of orofacial clefts

Accurate family histories of birth defects are critical for risk assessment and etiologic investigations. Typically, information about family history of birth defects is ascertained from interviews with birth mothers of index children; however, the quality of these interviews is rarely assessed. We evaluated family history information provided by case (n = 28) and control (n = 29) mothers who participated in a population-based, case-control study of orofacial clefts. Interview responses from mothers were compared to questionnaire reports collected by mail from first- and second-degree parental relatives. A total of 345 case and 380 control adult relatives completed questionnaires. These relatives also provided reports for 130 case and 169 control offspring. To examine the quality of birth defect reports, the sensitivity and specificity of birth mother responses were calculated. Sensitivity for presence (yes/no) of a birth defect was 31% for case mothers and 9% for control mothers. Specificity for case and control mothers was 98% and 97%, respectively. Interview responses from mothers who participate in family genealogy were more likely to be concordant with relative reports than were responses from mothers who do not participate in family genealogy. Case mother responses were more likely to be concordant than control mother responses. These results suggest that reliance on interview reports from birth mothers may lead to an underestimation of the occurrence of birth defects in relatives. Future investigations should explore methods to improve the quality of informant reports about family histories of birth defects. One alternative approach is discussed. Am. J. Med. Genet. 72:422–429, 1997. © 1997 Wiley-Liss, Inc.     

Prefrontal hypoactivation and recovery in insomnia

STUDY OBJECTIVES: Although subjective complaints about daytime cognitive functioning are an essential symptom of chronic insomnia, abnormalities in functional brain activation have not previously been investigated. This study was designed to investigate functional brain activation differences as a possible result of chronic insomnia, and the reversibility of these differences after nonmedicated sleep therapy. DESIGN: Insomniacs and carefully matched controls underwent functional magnetic resonance imaging (fMRI) scanning during the performance of a category and a letter fluency task. Insomniacs were randomly assigned to either a 6-week period of nonpharmacological sleep therapy or a wait list period, after which fMRI scanning was repeated using parallel tasks. Task-related brain activation and number of generated words were considered as outcome measures. SETTING: The outpatient sleep clinic of the VU University Medical Center, Department of Clinical Neurophysiology; fMRI was performed at the Department of Radiology. PARTICIPANTS: Twenty-one patients suffering from chronic insomnia and 12 matched controls. INTERVENTIONS: Nonpharmacological sleep therapy for 6 weeks, consisting of cognitive behavioral therapy, body temperature and bright light interventions, sleep hygiene, and physical activity counseling. MEASUREMENT AND RESULTS: Compared to controls, insomnia patients showed hypoactivation of the medial and inferior prefrontal cortical areas (Brodmann Area 9, 44-45), which recovered after sleep therapy but not after a wait list period. CONCLUSIONS: Insomnia interferes in a reversible fashion with activation of the prefrontal cortical system during daytime task performance.     

Family history in delusional depression

Family psychiatric history was compared in the 472 first-degree relatives of 31 delusional and 35 nondelusional inpatients who met DSM III criteria for major depression with melancholia. Morbid risks for psychiatric illness or for psychiatric treatment variables did not differ between the two groups. Specifically, rates of affective and psychotic illnesses in families did not distinguish delusional from nondelusional probands. The findings do not support the hypothesis of a genetic relationship of nonaffective psychosis to delusional depression.     

Family history of depression in clinic and community samples

Because most published family studies of depression ascertained subjects from treatment settings, the reported familial aggregation of depression could be an artifact if a family history of depression increased the likelihood of seeking treatment. To investigate this possibility, we compared the family history of depression in three groups of probands aged 18–44: 54 women randomly selected from the community with depression in the prior year, 41 women who entered a clinical trial for depression and 37 women randomly selected from the community who had not been depressed in the prior year. The presence of depression in the parents and siblings of the probands was assessed by the family history method and quantified via family history scores which took the age, gender and number of relatives into account. Depressed probands ascertained from clinical sources had markedly higher family history scores of depression than other two groups (P < 0.00005 in each instance). In the absence of direct interviews with relatives, we cannot exclude the impact of differential reporting. A family history of depression might be associated with an increased probability of treatment or the differential reporting of family history. It is thus possible that the familial aggregation of depression observed in probands from treatment settings is an artifact.     

Prevalence of insomnia in a survey of 12,778 adults in France

This study was an epidemiological questionnaire survey of a representative sample of the French population that included 12 778 individuals and in which adapted DSM-IV criteria for the definition of insomnia were used. Our goals were not only to assess the prevalence of 'insomnia' using these criteria, but also to compare the results obtained with those of prior studies using different definitions of 'insomnia'. The aim of this study was also to identify where areas of agreement and disagreement existed, as we believe that it is important to emphasize these points because DSM-IV recommendations are supposedly reflected in clinical practice. Seventy-three per cent of the individuals surveyed complained of a nocturnal sleep problem, but only 29% reported at least one sleep problem three times per week for a month, and 19% (2428 subjects) had at least one sleep problem three times per week for a month and complained of daytime consequences (DSM-IV criteria). Only 9% had two or more nocturnal sleep problems with daytime consequences and were classified as 'severe insomniacs'. Our study indicates that if DSM-IV criteria are used, the diagnosis of 'insomnia' is lower than in other epidemiological studies. The DSM criteria have an advantage in that they emphasize the daytime consequences of nocturnal sleep disturbances, which seem to be responsible for the most important socio-economic costs of the problem.     

Family history of psychological problems in generalized anxiety disorder

The current investigation examined self-reported family history of psychological problems in a large sample of individuals diagnosed with generalized anxiety disorder (GAD) and nonanxious controls. The GAD participants were all individuals receiving cognitive-behavioral therapy as part of two large randomized clinical trials. Family history information was obtained from the Anxiety Disorders Interview Schedule-Revised (ADIS-R; DiNardo & Barlow, 1988). The results indicate that, compared to control participants, individuals with GAD were more likely to have family members with anxiety problems, but not other psychological problems. Possible mechanisms for the familial transmission of GAD are discussed.     

Reliability and validity of the brief insomnia questionnaire in the America insomnia survey

Study Objectives:

To evaluate the reliability and validity of the Brief Insomnia Questionnaire (BIQ), a fully structured questionnaire developed to diagnose insomnia according to hierarchy-free Diagnostic and Statistical Manual, Fourth Edition, Text Revision (DSM-IV-TR), International Classification of Diseases-10 (ICD-10), and research diagnostic criteria/International Classification of Sleep Disorders-2 (RDC/ICSD-2) general criteria without organic exclusions in the America Insomnia Survey (AIS).

Design:

Probability subsamples of AIS respondents, oversampling BIQ positives, completed short-term test-retest interviews (n = 59) or clinical reappraisal interviews (n = 203) to assess BIQ reliability and validity.

Setting:

The AIS is a large (n = 10,094) epidemiologic survey of the prevalence and correlates of insomnia.

Participants:

Adult subscribers to a national managed healthcare plan.

Intervention:

None

Measurements and Results:

BIQ test-retest correlations were 0.47-0.94 for nature of the sleep problems (initiation, maintenance, nonrestorative sleep [NRS]), 0.72-0.95 for problem frequency, 0.66-0.88 for daytime impairment/distress, and 0.62 for duration of sleep. Good individual-level concordance was found between BIQ diagnoses and diagnoses based on expert interviews for meeting hierarchy-free inclusion criteria for diagnoses in any of the diagnostic systems, with area under the receiver operating characteristic curve (AUC, a measure of classification accuracy insensitive to disorder prevalence) of 0.86 for dichotomous classifications. The AUC increased to 0.94 when symptom-level data were added to generate continuous predicted-probability of diagnosis measures. The AUC was lower for dichotomous classifications based on RDC/ICSD-2 (0.68) and ICD-10 (0.70) than for DSM-IV-TR (0.83) criteria but increased consistently when symptom-level data were added to generate continuous predicted-probability measures of RDC/ICSD-2, ICD-10, and DSM-IV-TR diagnoses (0.92-0.95).

Conclusions:

These results show that the BIQ generates accurate estimates of the prevalence and correlates of hierarchy-free insomnia in the America Insomnia Survey.

Citation:

Kessler RC; Coulouvrat C; Hajak G; Lakoma MD; Roth T; Sampson N; Shahly V; Shillington A; Stephenson JJ; Walsh JK; Zammit GK. Reliability and validity of the brief insomnia questionnaire in the america insomnia survey. SLEEP 2010;33(11):1539-1549.     

182例肺癌病人癌症家族史的分析

本文调查了182例肺癌病人及200例非肿瘤病人及200例非肿瘤病人（对照组）的癌症家庭史，分析结果：①肺癌组家庭患癌率为19.2%，其中直系亲属占94%，对照组家庭患癌率为20%，其中直系亲属占85%，肺癌组直系亲属患癌比例大于对照组，提示：肺癌的发病与遗传因素可能有相关性。②将三种不同组织类型肺癌病人的家庭患癌率作了比较，小细胞肺癌（Sclc）组最高为26.6%，其次是腺癌21%，鳞癌最低为10%，提示Sclc很可能与癌遗传因素有关。     

Parental history of atopic disease and concentration of cord blood IgE

Background A family history of atopy, and cord blood immunoglobulin E concentration, have been shown to be predictors of atopic disease in children. Several studies have suggested that parental atopy may be related to newborn immunoglobulin E. Objective The purpose of our analysis was to evaluate whether parental history of allergic disease was associated with cord blood immunoglobulin E concentration. Methods The study subjects were from a defined population of 777 newborns delivered between 1987 and 1989. The mothers of these children completed a questionnaire during pregnancy concerning themselves and the child's father, including parental history of physician diagnosis of allergic diseases (allergies, hay fever and asthma). Total immunoglobulin E levels were quantitated in cord blood samples with an enzyme-hnked immunoassay. Results Median cord blood immunoglobulin E concentration was higher among infants whose mothers had a history of atopic disease, particularly for those with a history of asthma (P<0.022) and allergen immunotherapy (P<0.016) vs infants whose mothers had no history of any atopic disease. Comparing all babies with a maternal history of asthma, to babies where neither parent had a history of any atopic disease, the median cord blood immunoglobulin E was significantly higher (0.36IU/mL vs 0.21 IU/mL; P<0.009). This association was found only among female infants (0.49IU/mL vs 0.20 IU/mL; P<0.001). Conclusion Maternal, but not paternal, history of atopic disease was associated with an elevated immunoglobulin E among newborns. For maternal asthma, this association was only evident in infant girls.     

Disagreement between subjective and actigraphic measures of sleep duration in a population-based study of elderly persons

Sleep duration is an important concept in epidemiological studies. It characterizes a night's sleep or a person's sleep pattern, and is associated with numerous health outcomes. In most large studies, sleep duration is assessed with questionnaires or sleep diaries. As an alternative, actigraphy may be used, as it objectively measures sleep parameters and is feasible in large studies. However, actigraphy and sleep diaries may not measure exactly the same phenomenon. Our study aims to determine disagreement between actigraphic and diary estimates of sleep duration, and to investigate possible determinants of this disagreement. This investigation was embedded in the population-based Rotterdam Study. The study population consisted of 969 community-dwelling participants aged 57-97 years. Participants wore an actigraph and kept a sleep diary for, on average, six consecutive nights. Both measures were used to determine total sleep time (TST). In 34% of the participants, the estimated TST in the sleep diaries deviated more than 1 h from actigraphically measured TST. The level of disagreement between diary and actigraphic measures decreased with subjective and actigraphic measures of sleep quality, and increased with male gender, poor cognitive function and functional disability. Actigraphically measured poor sleep was often accompanied by longer subjective estimates of TST, whereas subjectively poor sleepers tended to report shorter TST in their diaries than was measured with actigraphy. We recommend, whenever possible, to use multiple measures of sleep duration, to perform analyses with both, and to examine the consistency of the results over assessment methods.     

Family history of hypertension and vasovagal symptoms during blood donation

Vasovagal reactions during blood donation were assessed in 185 individuals with and 298 individuals without a parental history of hypertension. It was predicted that individuals at genetic risk for hypertension would be less likely to faint or suffer pronounced vasovagal reactions, presumably by virtue of altered baroreflex sensitivity. A relationship between a parental history of hypertension and vasovagal responses was observed, albeit modified by blood donation experience and sex. Nurses obtaining blood from inexperienced donors without a parental history of hypertension were significantly more likely to recline the subject's chair than those obtaining blood from inexperienced donors with a parental history of hypertension or experienced donors. Questionnaire data were consistent with these findings. These results may be an interesting reflection of group differences in baroreflex sensitivity and have implications for screening potential donors.     

Adolescent insomnia as a risk factor for early adult depression and substance abuse

STUDY OBJECTIVE: To evaluate the association between adolescent insomnia and mental health during adolescence and young adulthood. DESIGN: Cross-sectional and prospective study. SETTINGS: School and in home. PARTICIPANTS: Nationally based population sample of 4494 adolescents, 12 to 18 years old at baseline (mean = 15.83 years), with 3582 young adults, 18 to 25 years old (mean = 21.25 years) at 6- to 7-year follow-up. MEASURES: Self-report measures of mental health. RESULTS: Insomnia symptoms were reported by 9.4% of the adolescents. Cross-sectionally, adolescent insomnia symptoms were associated with use of alcohol, cannabis, and drugs other than cannabis; depression; suicide ideation; and suicide attempts (all P values < 0.01) after controlling for sex. Prospectively, insomnia symptoms during adolescence were a significant risk factor for depression diagnosis (odds ratio = 2.3) in young adulthood after controlling for sex and baseline depression. CONCLUSION: This study is the first to longitudinally evaluate insomnia symptoms during adolescence as a risk factor for mental health problems in young adulthood. The findings indicate that insomnia is a prevalent problem for adolescents and argue for future treatment-outcome studies to evaluate the efficacy and effectiveness of various insomnia interventions in this age group.     

The Prevalence of Insomnia, Its Sociodemographic and Clinical Correlates, and Treatment in Rural and Urban Regions of Beijing, China: A General Population-Based Survey

Study Objectives

To determine the prevalence of insomnia, its sociodemographic and clinical correlates, and treatment patterns in Chinese people.

Design

A total of 5,926 subjects were randomly selected in the urban and rural areas of Beijing and interviewed using standardized assessment tools. Basic sociodemographic and clinical data were also collected.

Setting

Urban and rural regions of Beijing municipality, China.

Patients or Participants

Adult residents older than 15 years. Interventions N/A.

Measurements and Results

The prevalence of at least one type of insomnia was 9.2%; the rates of difficulty initiating sleep (DIS), difficulty maintaining sleep (DMS), and early morning awakening (EMA) were 7.0%, 8.0%, and 4.9%, respectively. Increased age (age >44 and 24 years in the urban and rural samples, respectively), female sex, married, divorced, separated, or widowed marital status; having a major medical condition; and suffering from a psychiatric disorder were risk factors for all types of insomnia in both the urban and rural samples. A low level of education (primary school or illiteracy) was significantly associated with a higher likelihood of all types of insomnia in the urban sample. Current smokers and current drinkers were less likely to report any type of insomnia in the rural sample. Unemployment was associated with DMS in the urban sample, while it was associated with DIS and DMS in the rural sample. Only 5.4% of the participants with any type of insomnia reported their symptoms to medical practitioners. In contrast, nearly one-third of the subjects with insomnia reported taking benzodiazepines as sleep-enhancing drugs.

Conclusions

Nationwide epidemiologic surveys are needed to further explore the prevalence of insomnia in China. The low percentage of subjects treated for insomnia indicates a major public health problem that should be addressed. Strict controls on use of benzodiazepines are warranted.

Citation:

Xiang YT; Ma X; Cai ZJ; Li SR; Xiang YQ; Guo HL; Hou YZ; Li ZB; Li ZJ; Tao YF; Dang WM; Wu XM; Deng J; Lai KYC; Ungvari GS. The prevalence of insomnia, its sociodemographic and clinical correlates, and treatment in rural and urban regions of Beijing, China: a general population-based survey. SLEEP 2008;31(12):1655–1662.     

Efficacy and safety of as-needed, post bedtime dosing with indiplon in insomnia patients with chronic difficulty maintaining sleep

OBJECTIVE: To evaluate the efficacy and tolerability of immediate release indiplon capsules in patients with chronic insomnia using an "as-needed" dosing strategy in response to difficulty falling back to sleep following a middle of the night, nocturnal awakening. METHODS: Adult outpatients (N=264; 71% female; age, 46 years) who met DSM-IV criteria for primary insomnia, with average total sleep time (TST) < 6.5 hours and >8 nights in the past month with nocturnal awakenings, were randomized to 4 weeks of double-blind treatment with 10 mg or 20 mg indiplon capsules, or placebo. The primary endpoint was latency to sleep onset post-dosing after a middle of the night awakening (LSOpd). Secondary endpoints included patients' subjective assessment of total sleep time (sTSTpd). Next day residual effects were evaluated by a 100 mm Visual Analog Scale (VAS) rating of sleepiness. RESULTS: Both doses of indiplon significantly reduced LSOpd at all time-points. Compared to placebo (45.2 min), the 4-week least squares (LS) mean LSOpd was 36.5 min in the indiplon 10 mg group (P = 0.0023) and 34.4 min in the indiplon 20mg group (P < 0.0001). The 4-week LS mean sTSTpd was higher in the indiplon 10 mg group (253 min) and 20mg group (278 min) compared to placebo (229 min; P < 0.01 for both comparisons). There was no increase observed in VAS ratings of next-day sleepiness for either dose of indiplon when compared to placebo. Indiplon was well-tolerated at both doses. CONCLUSIONS: Patients with chronic insomnia with nocturnal awakenings achieved significant and sustained improvement in sleep parameters while utilizing an as-needed post bedtime dosing strategy with indiplon capsules. Indiplon was well-tolerated, with no self-rated, next-day residual effects.     

Sleep patterns and insomnia among adolescents: a population‐based study

The aim of the current study was to examine sleep patterns and rates of insomnia in a population‐based study of adolescents aged 16–19 years. Gender differences in sleep patterns and insomnia, as well as a comparison of insomnia rates according to DSM‐IV, DSM‐V and quantitative criteria for insomnia (Behav. Res. Ther., 41 , 2003, 427), were explored. We used a large population‐based study in Hordaland county in Norway, conducted in 2012. The sample included 10 220 adolescents aged 16–18 years (54% girls). Self‐reported sleep measurements included bedtime, rise time, time in bed, sleep duration, sleep efficiency, sleep onset latency, wake after sleep onset, rate and frequency and duration of difficulties initiating and maintaining sleep and rate and frequency of tiredness and sleepiness. The adolescents reported short sleep duration on weekdays (mean 6:25 hours), resulting in a sleep deficiency of about 2 h. A majority of the adolescents (65%) reported sleep onset latency exceeding 30 min. Girls reported longer sleep onset latency and a higher rate of insomnia than boys, while boys reported later bedtimes and a larger weekday–weekend discrepancy on several sleep parameters. Insomnia prevalence rates ranged from a total prevalence of 23.8 (DSM‐IV criteria), 18.5 (DSM‐V criteria) and 13.6% (quantitative criteria for insomnia). We conclude that short sleep duration, long sleep onset latency and insomnia were prevalent in adolescents. This warrants attention as a public health concern in this age group.     

Family history: A comprehensive genetic risk assessment method for the chronic conditions of adulthood

Targeting individuals with increased risk for common, chronic disease can improve the efficiency and efficacy of preventive efforts by improving the predictability of screening tests and participant compliance. Individuals with the greatest risk for these disorders are those with a genetic susceptibility. The purpose of this study was to determine the feasibility of using a single, comprehensive family history as a method for stratifying risk for many preventable, common genetic disorders. Family histories obtained in a prenatal diagnostic clinic were reviewed regarding cardiovascular diseases, diabetes and several cancers; 42.5% of individuals reported a family history for at least one of the disorders under study. Familial coronary artery disease was most commonly reported (29% of participants), followed by noninsulin-dependent diabetes (14%). Qualitative characterization of disease susceptibility was also accomplished using family history data. For example, occurrence of different cancers within pedigrees was suggestive of familial cancer syndromes, and clustering of noninsulin-dependent diabetes and cardiovascular disease suggested an insulin resistance syndrome. Depending on the specific disease, 5 to 15% of at-risk individuals had a moderately increased risk (2 to 5 times the population risk), and approximately 1 to 10% had a high risk (absolute risks approaching 50%). Family history reports of common, chronic disease are prevalent among the population at large, and collection and interpretation of comprehensive family history data is a feasible, initial method for risk stratification for many preventable, chronic conditions. These findings may have important implications for disease prevention and management. Am. J. Med. Genet. 71:315–324, 1997. © 1997 Wiley-Liss, Inc.     

Sleep-disordered breathing and psychomotor vigilance in a community-based sample

STUDY OBJECTIVE: Sleep-disordered breathing (SDB) has been associated with impaired psychomotor vigilance performance in patients with sleep apnea patients. A bias toward greater referral of sleep apnea patients with severely impaired performance could explain these findings. Furthermore, no studies on the association between SDB and vigilance performance in a large community-based sample have been reported that encompasses the full spectrum of SDB severity. This study investigated the association between SDB and psychomotor vigilance with cross-sectional data from the Wisconsin Sleep Cohort Study. SETTING AND PARTICIPANTS: Community-based sample of 265 women and 346 men, mean age of 53.0 +/- 7.9 (age range: 35-74) years was used. Within 6 months of completing an overnight polysomnography protocol for SDB assessment, participants completed a 10-minute psychomotor vigilance task (PVT) during a daytime protocol. MEASUREMENTS: Sleep-disordered breathing was indicated by the number of apneas and hypopneas; psychomotor vigilance task variables included (1) mean of 1/reaction time (RT), (2) number of lapses, (3) mean reciprocal of fastest 10% RTs, (4) mean reciprocal of slowest 10% RTs, (5) slope of linear regression line across the 10 minutes of the task fit to 1/RTs, and (5) number of false responses. RESULTS: Multiple regression analysis showed a significant negative association between the logarithmically transformed apnea-hypopnea index (LogAHI) and number of lapses, mean of the slowest 10%, and number of false responses from the psychomotor vigilance task, independent of sex and body mass index in participants aged 65 years and older. CONCLUSION: SDB in the community population is associated with impaired psychomotor vigilance in older men and women.