Muenke syndrome: An international multicenter natural history study.

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings. Muenke syndrome constitutes the most common syndromic form of craniosynostosis, with an incidence of 1 in 30,000 births and is defined by the presence of the p.Pro250Arg mutation in FGFR3. Participants were recruited from international craniofacial surgery and genetic clinics. Affected individuals, parents, and their siblings, if available, were enrolled in the study if they had a p.Pro250Arg mutation in FGFR3. One hundred and six patients from 71 families participated in this study. In 51 informative probands, 33 cases (64.7%) were inherited. Eighty-five percent of the participants had craniosynostosis (16 of 103 did not have craniosynostosis), with 47.5% having bilateral and 28.2% with unilateral synostosis. Females and males were similarly affected with bicoronal craniosynostosis, 50% versus 44.4% (P = 0.84), respectively. Clefting was rare (1.1%). Hearing loss was identified in 70.8%, developmental delay in 66.3%, intellectual disability in 35.6%, attention deficit/hyperactivity disorder in 23.7%, and seizures in 20.2%. In patients with complete skeletal surveys (upper and lower extremity x-rays), 75% of individuals were found to have at least a single abnormal radiographical finding in addition to skull findings. This is the largest study of the natural history of Muenke syndrome, adding valuable clinical information to the care of these individuals including behavioral and cognitive impairment data, vision changes, and hearing loss.

Executive Function and Adaptive Behavior in Muenke Syndrome.

OBJECTIVE: To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls. STUDY DESIGN: Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and their mutation-negative siblings. Participants completed validated assessments of executive functioning (Behavior Rating Inventory of Executive Function [BRIEF]) and adaptive behavior skills (Adaptive Behavior Assessment System, Second Edition [ABAS-II]). RESULTS: Forty-four with a positive FGFR3 mutation, median age 9 years, range 7 months to 52 years were enrolled. In addition, 10 unaffected siblings served as controls (5 males, 5 females; median age, 13 years; range, 3-18 years). For the General Executive Composite scale of the BRIEF, 32.1% of the cohort had scores greater than +1.5 SD, signifying potential clinical significance. For the General Adaptive Composite of the ABAS-II, 28.2% of affected individuals scored in the 3rd-8th percentile of the normative population, and 56.4% were below the average category (<25th percentile). Multiple regression analysis did not identify craniosynostosis as a predictor of BRIEF (P = .70) or ABAS-II scores (P = .70). In the sibling pair analysis, affected siblings performed significantly poorer on the BRIEF General Executive Composite and the ABAS-II General Adaptive Composite. CONCLUSION: Individuals with Muenke syndrome are at an increased risk for developing adaptive and executive function behavioral changes compared with a normative population and unaffected siblings.

Facets of impulsivity interactively predict body fat and binge eating in young women.

Impulsivity has been positively linked to overeating and obesity, but findings are inconsistent. Studies using the Barratt Impulsiveness Scale (BIS) show that measures of overeating appear to be most consistently associated with scores on the subscale attentional impulsivity in both non-clinical and clinical samples. Additionally, individuals with binge-eating behaviors may have elevated scores on the subscale motor impulsivity. In the current study, young women (N = 133) completed the short form of the BIS (BIS-15), the Eating Disorder Examination - Questionnaire, and height, weight and body composition were measured. Regression analyses showed that attentional and motor impulsivity positively predicted binge eating and general eating pathology, while non-planning impulsivity negatively predicted these variables. Moreover, attentional and motor impulsivity interactively predicted percent body fat, and the number of subjective and objective binge episodes. Results show that only specific aspects of trait impulsivity (attentional and motor impulsivity) are positively associated with body mass and binge eating. Non-planning impulsivity appears to be unrelated or even inversely related to those variables, at least in female students. Elevated levels of attentional impulsivity in conjunction with high motor impulsivity may be a risk factor for overweight and clinically relevant binge eating.

Emotional eating moderates the relationship of night eating with binge eating and body mass.

Night eating syndrome is marked by substantial evening or nocturnal food intake, insomnia, morning anorexia, and depressed mood. Night eating severity has been positively associated with body mass index (BMI), binge eating frequency, and emotional eating tendencies. We conducted an online questionnaire study among students (N=729) and explored possible interactive effects between those variables. Night eating severity, binge eating frequency, BMI and emotional eating were all positively correlated with each other. Regression analyses showed that night eating severity was particularly related to more frequent binge episodes and higher BMI at high levels of emotional eating but unrelated to those variables at low levels of emotional eating. Thus, eating as a means of emotion regulation appears to be an important moderator of the relationship between night eating and both binge eating and BMI.

Grade of adiposity affects the impact of fat mass on resting energy expenditure in women.

Body fat mass (FM) adds to the variance in resting energy expenditure (REE). However, the nature and extent of this relationship remains unclear. Using a database of 1306 women and a linear regression model, we systematically analysed the contribution of FM to the total variance in REE at different grades of adiposity (ranges of body %FM). After adjusting for age, the relative contribution of FM on REE variance increased from low (10- 30- 40- # 50 %FM) and very high (>50 %FM) grades of adiposity according to the ratio between regression coefficients. These data suggest that the specific metabolic rate of fat tissue is reduced at high adiposity. This should be considered when REE is normalized for FM in obesity.

Impact of specific orthodontic parameters on the oral health-related quality of life in children and adolescents : A prospective interdisciplinary, multicentre, cohort study.

PURPOSE: The aim of the present study was to analyse the impact of specific orthodontic findings on oral health-related quality of life (OHRQoL) when taking into consideration age and psychological factors in children and adolescents. METHODS: In all, 250 children and adolescents with an indication for orthodontic diagnostics were recruited using a multicentre study design. Using validated and internationally acknowledged questionnaires, we assessed OHRQoL, health-related quality of life (HRQoL), self-esteem and behavioural problems. We also examined a selection of specific orthodontic findings using photos, model casts and cephalometric analyses, and investigated the impact of these parameters on OHRQoL using simple linear regression analyses. Thereafter, we added all the significant specific orthodontic and psychological parameters to a multiple linear regression model using a stepwise forwards selection procedure. RESULTS: We were able to identify different specific orthodontic findings that have a significant impact on OHRQoL. These were the type of lip closure, the position of the chin, the Little-index of the upper jaw, the overjet, the overbite and the ANB angle. Moreover, we were able to demonstrate that psychological and some specific orthodontic parameters have a significant impact on OHRQoL. CONCLUSION: Specific orthodontic findings have a significant impact on patients' perceived OHRQoL. Further longitudinal studies are required to investigate whether the treatment and correction of these malocclusions also improve the OHRQoL of children and adolescents.

Correlation between oral health-related quality of life and orthodontic treatment need in children and adolescents-a prospective interdisciplinary multicentre cohort study.

PURPOSE: Oral health-related quality of life (OHRQoL) is a construct for assessing the self-perceived oral health of patients. The aim of this study was to investigate the correlation between OHRQoL and orthodontic treatment need in consideration of demographic and psychological factors. PATIENTS AND METHODS: This multicentre study included 250 patients with an indication for orthodontic diagnostics. In cooperation with the Institute of Clinical Psychology at the University of Würzburg, validated and internationally acknowledged questionnaires were selected to assess OHRQoL (COHIP-G19) and health-related quality of life (HRQOL). Self-esteem and behavioural problems were taken into consideration as possible psychological factors. Orthodontic treatment need was assessed using the Index of Orthodontic Treatment Need-Dental Health Component (IOTN-DHC), the Index of Orthodontic Treatment Need-Aesthetic Component (IOTN-AC) and the Dental Aesthetic Index (DAI). Possible significant correlations between the collected parameters and OHRQoL were evaluated by means of linear regression analysis. RESULTS: Objective orthodontic treatment need (IOTN-DHC and DAI) was significantly correlated with OHRQoL. Further factors significantly influencing OHRQoL in children and adolescents were age, HRQOL, self-esteem and behavioural problems. CONCLUSIONS: Objective orthodontic treatment need significantly influences OHRQoL in children and adolescents. Further studies are required to investigate if OHRQoL may be improved by correcting misaligned teeth and jaws.

Food cravings prospectively predict decreases in perceived self-regulatory success in dieting.

Food cravings are assumed to hamper dieting success, but most findings are based on cross-sectional studies. In the current study, female students were tested at the beginning of their first semester at university and six months later. They completed the Food Cravings Questionnaire-Trait-reduced (FCQ-T-r), the disinhibition subscale of the Eating Inventory, and the Perceived Self-Regulatory Success in Dieting Scale, and their height and weight were measured. Scores on the FCQ-T-r prospectively predicted higher disinhibition and lower perceived self-regulatory success in dieting after six months. Although FCQ-T-r scores did not predict increases in body mass index (BMI) directly, a serial mediation model revealed an indirect effect of FCQ-T-r scores at baseline on BMI after six months via increased disinhibition scores and decreased perceived self-regulatory success in dieting. To conclude, the current results provide evidence for a prospective relationship between trait food craving and decreases in dieting success. Furthermore, they suggest a possible mediator of this association (i.e., increases in disinhibited eating) as well as an indirect effect on body weight. Measurement of trait food craving may be a useful tool for predicting or monitoring treatment changes and relapse in eating- and weight disorders.

Attentional bias toward high-calorie food-cues and trait motor impulsivity interactively predict weight gain.

Strong bottom-up impulses and weak top-down control may interactively lead to overeating and, consequently, weight gain. In the present study, female university freshmen were tested at the start of the first semester and again at the start of the second semester. Attentional bias toward high- or low-calorie food-cues was assessed using a dot-probe paradigm and participants completed the Barratt Impulsiveness Scale. Attentional bias and motor impulsivity interactively predicted change in body mass index: motor impulsivity positively predicted weight gain only when participants showed an attentional bias toward high-calorie food-cues. Attentional and non-planning impulsivity were unrelated to weight change. Results support findings showing that weight gain is prospectively predicted by a combination of weak top-down control (i.e. high impulsivity) and strong bottom-up impulses (i.e. high automatic motivational drive toward high-calorie food stimuli). They also highlight the fact that only specific aspects of impulsivity are relevant in eating and weight regulation.

World Health Organization equations have shortcomings for predicting resting energy expenditure in persons from a modern, affluent population: generation of a new reference standard from a retrospective analysis of a German database of resting energy expenditure.

BACKGROUND: Reference standards for resting energy expenditure (REE) are widely used. Current standards are based on measurements made in the first part of the past century in various races and locations. OBJECTIVE: The aim of the present study was to investigate the application of the World Health Organization (WHO) equations from 1985 in healthy subjects living in a modern, affluent society in Germany and to generate a new formula for predicting REE. DESIGN: The study was a cross-sectional and retrospective analysis of data on REE and body composition obtained from 2528 subjects aged 5-91 y in 7 different centers between 1985 and 2002. RESULTS: Mean REE varied between 5.63 and 8.07 MJ/d in males and between 5.35 and 6.46 MJ/d in females. WHO prediction equations systematically overestimated REE at low REE values but underestimated REE at high REE values. There were significant and independent effects of sex, age, body mass or fat-free mass, and fat mass on REE. Multivariate regression analysis explained up to 75% of the variance in REE. Two prediction formulas including weight, sex, and age or fat-free mass, fat mass, sex, and age, respectively, were generated in a subpopulation and cross-validated in another subpopulation. Significant deviations were still observed for underweight and normal-weight subjects. REE prediction formulas for specific body mass index groups reduced the deviations. The normative data for REE from the Institute of Medicine underestimated our data by 0.3 MJ/d. CONCLUSIONS: REE prediction by WHO formulas systematically over- and underestimates REE. REE prediction from a weight group-specific formula is recommended in underweight subjects.

A German version of the Night Eating Questionnaire (NEQ): psychometric properties and correlates in a student sample.

Night eating syndrome (NES) is marked by substantial evening or nocturnal food intake, insomnia, morning anorexia, and depressed mood. The Night Eating Questionnaire (NEQ) is the most frequently used instrument for the assessment of NES and available in several languages. The current study aimed at providing and validating a German version of the NEQ using an online study among students (N=729). The German NEQ had acceptable internal consistency (α=.71) and three-week retest-reliability (r=.77). The four-factor structure of the original version (morning anorexia, evening hyperphagia, mood/sleep, nocturnal ingestions) could be replicated, except for one item. Convergent validity was supported by moderate positive correlations with eating pathology, emotional eating, and habitual food cravings. Discriminant validity was supported by small positive correlations with relevant, but not eating-related constructs (eveningness preference, impulsivity). Scores on the NEQ were also positively, but weakly, correlated with body mass index (r=.18). The German version of the NEQ appears to be a useful tool for future investigations on night eating.

Supertaster, super reactive: oral sensitivity for bitter taste modulates emotional approach and avoidance behavior in the affective startle paradigm.

People differ in both their sensitivity for bitter taste and their tendency to respond to emotional stimuli with approach or avoidance. The present study investigated the relationship between these sensitivities in an affective picture paradigm with startle responding. Emotion-induced changes in arousal and attention (pupil modulation), priming of approach and avoidance behavior (startle reflex modulation), and subjective evaluations (ratings) were examined. Sensitivity for bitter taste was assessed with the 6-n-propylthiouracil (PROP)-sensitivity test, which discriminated individuals who were highly sensitive to PROP compared to NaCl (PROP-tasters) and those who were less sensitive or insensitive to the bitter taste of PROP. Neither pupil responses nor picture ratings differed between the two taster groups. The startle eye blink response, however, significantly differentiated PROP-tasters from PROP-insensitive subjects. Facilitated response priming to emotional stimuli emerged in PROP-tasters but not in PROP-insensitive subjects at shorter startle lead intervals (200-300ms between picture onset and startle stimulus onset). At longer lead intervals (3-4.5s between picture onset and startle stimulus onset) affective startle modulation did not differ between the two taster groups. This implies that in PROP-sensitive individuals action tendencies of approach or avoidance are primed immediately after emotional stimulus exposure. These results suggest a link between PROP taste perception and biologically relevant patterns of emotional responding. Direct perception-action links have been proposed to underlie motivational priming effects of the startle reflex, and the present results extend these to the sensory dimension of taste.

On the differentiation between trait and state food craving: Half-year retest-reliability of the Food Cravings Questionnaire-Trait-reduced (FCQ-T-r) and the Food Cravings Questionnaire-State (FCQ-S).

BACKGROUND: Food craving refers to an intense desire to consume a specific food. The Food Cravings Questionnaires (FCQs) assess food cravings on a trait and a state level. METHOD: The current study examined half-year retest-reliability of the Food Cravings Questionnaire-Trait-reduced (FCQ-T-r) and the Food Cravings Questionnaire-State (FCQ-S) and reports associations with current food deprivation in female students. RESULTS: The FCQ-T-r had higher retest-reliability (r tt = .74) than the FCQ-S (r tt = .39). Although trait food craving was correlated with state food craving, it was unaffected by current food deprivation. CONCLUSIONS: Although state and trait food craving are interdependent, the FCQs are able to differentiate between the two. As scores of the FCQ-T-r represent a stable trait, but are also sensitive to changes in eating behavior, they may be useful for the investigation of the course of eating disorders and obesity.

Erratum: On the differentiation between trait and state food craving: Half-year retest-reliability of the Food Cravings Questionnaire-Trait-reduced (FCQ-T-r) and the Food Cravings Questionnaire-State (FCQ-S).

[This corrects the article DOI: 10.1186/s40337-014-0025-z.].

No fear, no panic: probing negation as a means for emotion regulation.

This electroencephalographic study investigated if negating one's emotion results in paradoxical effects or leads to effective emotional downregulation. Healthy participants were asked to downregulate their emotions to happy and fearful faces by using negated emotional cue words (e.g., no fun, no fear). Cue words were congruent with the emotion depicted in the face and presented prior to each face. Stimuli were presented in blocks of happy and fearful faces. Blocks of passive stimulus viewing served as control condition. Active regulation reduced amplitudes of early event-related brain potentials (early posterior negativity, but not N170) and the late positive potential for fearful faces. A fronto-central negativity peaking at about 250 ms after target face onset showed larger amplitude modulations during downregulation of fearful and happy faces. Behaviorally, negating was more associated with reappraisal than with suppression. Our results suggest that in an emotional context, negation processing could be quite effective for emotional downregulation but that its effects depend on the type of the negated emotion (pleasant vs unpleasant). Results are discussed in the context of dual process models of cognition and emotion regulation.

Oral perceptions of fat and taste stimuli are modulated by affect and mood induction.

This study examined the impact of three clinical psychological variables (non-pathological levels of depression and anxiety, as well as experimentally manipulated mood) on fat and taste perception in healthy subjects. After a baseline orosensory evaluation, 'sad', 'happy' and 'neutral' video clips were presented to induce corresponding moods in eighty participants. Following mood manipulation, subjects rated five different oral stimuli, appearing sweet, umami, sour, bitter, fatty, which were delivered at five different concentrations each. Depression levels were assessed with Beck's Depression Inventory (BDI) and anxiety levels were assessed via the Spielberger's STAI-trait and state questionnaire. Overall, subjects were able to track the concentrations of the stimuli correctly, yet depression level affected taste ratings. First, depression scores were positively correlated with sucrose ratings. Second, subjects with depression scores above the sample median rated sucrose and quinine as more intense after mood induction (positive, negative and neutral). Third and most important, the group with enhanced depression scores did not rate low and high fat stimuli differently after positive or negative mood induction, whereas, during baseline or during the non-emotional neutral condition they rated the fat intensity as increasing with concentration. Consistent with others' prior observations we also found that sweet and bitter stimuli at baseline were rated as more intense by participants with higher anxiety scores and that after positive and negative mood induction, citric acid was rated as stronger tasting compared to baseline. The observation that subjects with mild subclinical depression rated low and high fat stimuli similarly when in positive or negative mood is novel and likely has potential implications for unhealthy eating patterns. This deficit may foster unconscious eating of fatty foods in sub-clinical mildly depressed populations.