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Hyperhidrosis (excessive sweating, OMIM %114110) is a complex disorder with multifactorial causes. Emotional strains and social stress increase symptoms and lead to a vicious circle. Previously, we showed significantly higher depression scores, and normal cortisol awakening responses in patients with primary focal hyperhidrosis (PFH). Stress reactivity in response to a (virtual) Trier Social Stress Test (TSST-VR) has not been studied so far. Therefore, we measured sweat secretion, salivary cortisol and alpha amylase (sAA) concentrations, and subjective stress ratings in affected and non-affected subjects in response to a TSST-VR. In this pilot study, we conducted TSST-VRs and performed general linear models with repeated measurements for salivary cortisol and sAA levels, heart rate, axillary sweat and subjective stress ratings for two groups (diagnosed PFH (n = 11), healthy controls (n = 16)). PFH patients showed significantly heightened sweat secretion over time compared to controls (p = 0.006), with highest quantities during the TSST-VR. In both groups, sweating (p < 0.001), maximum cortisol levels (p = 0.002), feelings of stress (p < 0.001), and heart rate (p 0.131).

Primary focal hyperhidrosis (PFH, OMIM %144110) is a genetically influenced condition characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general population, dependent on ethnicity. The aetiology of PFH remains unclear but an autosomal dominant mode of inheritance, incomplete penetrance and variable phenotypes have been reported. In our study, nine pedigrees (50 affected, 53 non-affected individuals) were included. Clinical characterisation was performed at the German Hyperhidrosis Centre, Munich, by using physiological and psychological questionnaires. Genome-wide parametric linkage analysis with GeneHunter was performed based on the Illumina genome-wide SNP arrays. Haplotypes were constructed using easyLINKAGE and visualised via HaploPainter. Whole-exome sequencing (WES) with 100x coverage in 31 selected members (24 affected, 7 non-affected) from our pedigrees was achieved by next generation sequencing. We identified four genome-wide significant loci, 1q41-1q42.3, 2p14-2p13.3, 2q21.2-2q23.3 and 15q26.3-15q26.3 for PFH. Three pedigrees map to a shared locus at 2q21.2-2q23.3, with a genome-wide significant LOD score of 3.45. The chromosomal region identified here overlaps with a locus at chromosome 2q22.1-2q31.1 reported previously. Three families support 1q41-1q42.3 (LOD = 3.69), two families share a region identical by descent at 2p14-2p13.3 (LOD = 3.15) and another two families at 15q26.3 (LOD = 3.01). Thus, our results point to considerable genetic heterogeneity. WES did not reveal any causative variants, suggesting that variants or mutations located outside the coding regions might be involved in the molecular pathogenesis of PFH. We suggest a strategy based on whole-genome or targeted next generation sequencing to identify causative genes or variants for PFH.

Background Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on children, the social and psychological profile of adult women with TXS remains understudied. This study aims to provide a comprehensive assessment of these aspects in adult women with TXS compared to matched controls. Methods A cohort of 44 women with TXS (mean age 30.5 years) was compared to 50 age- and education-matched controls (mean age 29.7 years). Standardized assessments measured verbal IQ, psychological distress, chronic stress, emotion regulation, coping mechanisms, social anxiety, empathy, autistic traits, and personality traits. Group comparisons were conducted using ANOVAs and MANOVAs, with additional χ² tests for categorical variables. Results Depression and trait anxiety did not significantly differ between groups, though both groups exhibited notably high scores. However, a greater number of individuals in the TXS group reported elevated social anxiety and autistic traits, and reduced empathy. Moreover, there were indications of increased self-reported social tensions, personal distress, and somatization within the TXS group. No significant differences were found in personality traits, verbal IQ, chronic stress levels, and emotion regulation. Additionally, TXS participants tended to rely less on the maladaptive coping strategy of alcohol and cigarette consumption. Conclusion Our findings underscore autistic traits, social anxiety, and reduced empathy as significant challenges for adult women with TXS. While cognitive and emotional characteristics were largely comparable to those of age- and education-matched controls, the heightened social difficulties suggest a potential benefit of targeted interventions, such as social skills training, to support affected individuals. Longitudinal studies are essential to understand the long-term progression of these challenges and to develop effective therapeutic strategies.

Background Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing. Methods Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n  = 20 adult women (aged 18–49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans. Results Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions. Conclusion The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature.

Primary hyperhidrosis is defined as excessive sweating of certain body areas without physiological reasons. Hyperhidrotic individuals report a high psychological strain and an impairment of their quality of life. Thus, the aim of the study is to investigate the relation between hyperhidrosis and different psychological as well as physiological aspects of chronic stress as a co-factor for the etiology of depression. In this study, forty hyperhidrotic subjects were compared to forty age- and sex-matched healthy control subjects. The Trier Inventory of Chronic Stress ('Trierer Inventar zum chronischen Stress': TICS), the Beck Depression Inventory (BDI-II) and the Screening for Somatoform Disorders (SOMS-2) were used to examine the correlation between primary hyperhidrosis and stress as well as accompanying depressive and somatic symptoms. The cortisol awakening response of each subject was analyzed as a physiological stress correlate. In hyperhidrotics, we found a significant lack of social recognition as well as significantly more depressive symptoms compared to the control subjects. A subgroup of patients with axillary hyperhidrosis had the highest impact on these increased issues of chronic stress, pointing to a higher embarrassment in these subjects. Especially in social situations, hyperhidrotics showed higher stress levels, whereby a vicious circle of stress and sweating is triggered. However, the cortisol awakening response did not significantly differ between hyperhidrotics and controls. Moreover, affected persons suffer from more depressive symptoms, which may be caused by feelings of shame and a lack of self-confidence. This initial study provides an impetus for further investigation to reveal a causative relationship between hyperhidrosis and its psychological concomitants.

A genome-wide association (GWA) study with pooled DNA in adult attention-deficit/hyperactivity disorder (ADHD) employing ~500K SNP markers identifies novel risk genes and reveals remarkable overlap with findings from recent GWA scans in substance use disorders. Comparison with results from our previously reported high-resolution linkage scan in extended pedigrees confirms several chromosomal loci, including 16q23.1-24.3 which also reached genome-wide significance in a recent meta-analysis of seven linkage studies (Zhou et al. in Am J Med Genet Part B, 2008). The findings provide additional support for a common effect of genes coding for cell adhesion molecules (e.g., CDH13, ASTN2 ) and regulators of synaptic plasticity (e.g., CTNNA2, KALRN ) despite the complex multifactorial etiologies of adult ADHD and addiction vulnerability.

Salivary alpha-amylase (sAA) influences the perception of taste and texture, features both relevant in acquiring food liking and, with time, food preference. However, no studies have yet investigated the relationship between basal activity levels of sAA and food preference. We collected saliva from 57 volunteers (63% women) who we assessed in terms of their preference for different food items. These items were grouped into four categories according to their nutritional properties: high in starch, high in sugar, high glycaemic index, and high glycaemic load. Anthropometric markers of cardiovascular risk were also calculated. Our findings suggest that sAA influences food preference and body composition in women. Regression analysis showed that basal sAA activity is inversely associated with subjective but not self-reported behavioural preference for foods high in sugar. Additionally, sAA and subjective preference are associated with anthropometric markers of cardiovascular risk. We believe that this pilot study points to this enzyme as an interesting candidate to consider among the physiological factors that modulate eating behaviour.

In the context of social dilemmas, previous research has shown that human cooperation is mainly based on the social norm of conditional cooperation. While in most cases individuals behave according to such a norm, deviant behavior is no exception. Recent research further suggests that heterogeneity in social behavior might be associated with varying genetic predispositions. In this study, we investigated the relationship between individuals' behavior in a public goods experiment and the promoter-region functional repeat polymorphism in the monoamine oxidase A gene (MAOA). In a dynamic setting of increasing information about others' contributions, we analyzed differences in two main components of conditional cooperation, namely the players' own contribution and their beliefs regarding the contribution of other players. We showed that there is a significant association between individuals' behavior in a repeated public goods game and MAOA. Our results suggest that male carriers of the low activity alleles cooperate significantly less than those carrying the high activity alleles given a situation where subjects had to rely on their innate beliefs about others' contributions. With increasing information about the others' cooperativeness, the genetic effect diminishes. Furthermore, significant opposing effects for female subjects carrying two low activity alleles were observed.

The catechol- O -methyltransferase gene ( COMT ) plays a crucial role in the metabolism of catecholamines in the frontal cortex. A single nucleotide polymorphism (Val 158 Met SNP, rs4680) leads to either methionine (Met) or valine (Val) at codon 158, resulting in a three- to fourfold reduction in COMT activity. The aim of the present study was to assess the COMT Val 158 Met SNP as a risk factor for attention-deficit/hyperactivity disorder (ADHD), ADHD symptom severity and co-morbid conduct disorder (CD) in 166 children with ADHD. The main finding of the present study is that the Met allele of the COMT Val 158 Met SNP was associated with ADHD and increased ADHD symptom severity. No association with co-morbid CD was observed. In addition, ADHD symptom severity and early adverse familial environment were positive predictors of lifetime CD. These findings support previous results implicating COMT in ADHD symptom severity and early adverse familial environment as risk factors for co-morbid CD, emphasizing the need for early intervention to prevent aggressive and maladaptive behavior progressing into CD, reducing the overall severity of the disease burden in children with ADHD.

Autistic symptoms are frequently observed in children with attention-deficit/hyperactivity disorder (ADHD), but their etiology remains unclear. The main aim of this study was to describe risk factors for increased autistic symptoms in children with ADHD without an autism or autism-spectrum diagnosis. Comorbid psychiatric disorders, developmental delay, current medication, prenatal biological and postnatal psychosocial risk factors as well as parental autistic traits were assessed in 205 children with ADHD. Linear regression models identified maternal autistic traits, current familial risk factors and hyperactive symptoms as predictors of autistic symptoms in children with ADHD. Findings are indicative of possible genetic as well as environmental risk factors mediating autistic symptoms in children with ADHD. An additional validity analysis by ROC, area under the curve (AUC), suggested a cut-off of 11 to differentiate between ADHD and high-functioning ASD by the Social Communication Questionnaire (SCQ).