An fMRI study

Background Maternal sensitive behavior depends on recognizing one’s own child’s affective states. The present study investigated distinct and overlapping neural responses of mothers to sad and happy facial expressions of their own child (in comparison to facial expressions of an unfamiliar child). Methods We used functional MRI to measure dissociable and overlapping activation patterns in 27 healthy mothers in response to happy, neutral and sad facial expressions of their own school-aged child and a gender- and age- matched unfamiliar child. To investigate differential activation to sad compared to happy faces of one’s own child, we used interaction contrasts. During the scan, mothers had to indicate the affect of the presented face. After scanning, they were asked to rate the perceived emotional arousal and valence levels for each face using a 7-point Likert-scale (adapted SAM version). Results While viewing their own child’s sad faces, mothers showed activation in the amygdala and anterior cingulate cortex whereas happy facial expressions of the own child elicited activation in the hippocampus. Conjoint activation in response to one’s own child happy and sad expressions was found in the insula and the superior temporal gyrus. Conclusions Maternal brain activations differed depending on the child’s affective state. Sad faces of the own child activated areas commonly associated with a threat detection network, whereas happy faces activated reward related brain areas. Overlapping activation was found in empathy related networks. These distinct neural activation patterns might facilitate sensitive maternal behavior

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

BACKGROUND In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment. Blood Phe concentration is the main biochemical monitoring parameter. Between appointments and venous blood sampling, Austrian PKU patients send dried blood spots (DBS) for Phe measurements to their centre. Coronavirus disease-19 (COVID-19), caused by the SARS CoV-2 virus, was classified as a pandemic by the World Health Organization in March 2020. In Austria, two nationwide lockdowns were installed during the first and second pandemic wave with variable regional and national restrictions in between. This retrospective questionnaire study compared the frequency of Phe measurements and Phe concentrations during lockdown with the respective period of the previous year in children and adolescents with PKU and explored potential influencing factors. RESULTS 77 patients (30 female, 47 male; mean age 12.4 [8-19] years in 2020) from five centres were included. The decline of venous samples taken on appointments in 2020 did not reach significance but the number of patients with none or only one DBS tripled from 4 (5.2%) in 2019 to 12 (15.6%) in 2020. Significantly more patients had a decline than a rise in the number of DBS sent in between 2019 and 2020 (p < 0.001; Chi$^{2}$ = 14.79). Especially patients ≥ 16 years sent significantly less DBS in 2020 (T = 156, p = 0.02, r = 0.49). In patients who adhered to DBS measurements, Phe concentrations remained stable. Male or female sex and dietary only versus dietary plus sapropterin treatment did not influence frequency of measurements and median Phe. CONCLUSION During the COVID pandemic, the number of PKU patients who stopped sending DBS to their metabolic centre increased significantly, especially among those older than 16 years. Those who kept up sending DBS maintained stable Phe concentrations. Our follow-up system, which is based on DBS sent in by patients to trigger communication with the metabolic team served adherent patients well. It failed, however, to actively retrieve patients who stopped or reduced Phe measurements

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

Phenylketonuria (PKU, MIM 261600) is an autosomal recessive disorder caused by mutations of the phenylalanine hydroxylase gene (PAH, GenBank U49897.1, RefSeq NM_000277). To date more than 560 variants of the PAH gene have been identified. In Europe there is regional distribution of specific mutations. Due to recent progress in chaperone therapy, the prevalence of BH4-responsive alleles gained therapeutic importance. Here we report the mutational spectrum of PAH deficiency in 147 unrelated Austrian families. Overall mutation detection rate was 98.6%. There was a total of 62 disease-causing mutations, including five novel mutations IVS4 + 6T>A, p.H290Y, IVS8-2A>G, p.A322V and p.I421S. The five most prevalent mutations found in patients were p.R408W, IVS12 + 1G>A, p.R261Q, p.R158Q and IVS2 + 5G>C. Neonatal phenylalanine levels before treatment were available in 114/147 patients. Prediction of BH4-responsiveness in patients with full genotypes was exclusively made according to published data. Among the 133 patients needing dietary treatment, 28.4% are expected to be BH4 "non-responsive", 4.5% are highly likely BH4-responsive, 35.8% are probably BH4-responsive while no interpretation was possible for 31.3%. The mutation data reflect the population history of Austria and provide information on the likely proportion of Austrian PKU patients that may benefit from BH4-therap

The mediating role of attachment and anger: exploring the impact of maternal early-life maltreatment on child abuse potential.

BACKGROUND Maternal early-life maltreatment (ELM) increases the risk of subsequent child maltreatment, but the underlying mechanisms of these intergenerational effects remain largely unknown. Identifying these mechanisms is crucial for developing preventive interventions that can break the cycle of abuse. Notably, previous research has shown that ELM often results in attachment insecurity and altered anger characteristics. Therefore, this study determines whether these characteristics mediate the relationship between maternal history of ELM and child abuse potential. METHODS The study sample included 254 mothers, of whom 149 had experienced ELM to at least a moderate degree. Maternal ELM was assessed using the Childhood Experience of Care and Abuse (CECA) interview. Attachment insecurity, trait anger and anger expression, and maternal abuse potential were assessed using the Vulnerable Attachment Questionnaire (VASQ), State-Trait Anger Expression Inventory (STAXI), and Child Abuse Potential Inventory (CAPI), respectively. RESULTS The severity of maternal ELM predicted higher child abuse potential, with attachment insecurity and anger suppression mediating this effect. Specifically, higher levels of maternal ELM were associated with greater attachment insecurity and increased anger suppression, resulting in a higher child abuse potential. Although higher levels of trait anger were directly associated with higher child abuse potential, this parameter did not mediate the relationship with ELM. In addition, no significant associations were observed between outwardly expressed anger and ELM or child abuse potential. All analyses were adjusted for maternal mental disorders, years of education, and relationship status. DISCUSSION Attachment insecurity and anger suppression may serve as pathways linking the maternal history of ELM to the risk of child abuse, even when considering maternal psychopathology. Overall, our findings indicate that interventions aimed at strengthening attachment and improving anger suppression may be beneficial for all mothers with ELM history and high child abuse potential, not just those who suffer from mental illness

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage of a functioning network within the Austrian metabolic group, our registry research aimed to update the data of the "Registry for Inherited Metabolic Disorders" started between 1985 and 1995 with retrospectively retrieved data on patients with IMDs according to the Society for the Study of Inborn Errors of Metabolism International Classification of Diseases 11 (SSIEM ICD11) catalogue. Included in this retrospective register were 2631 patients with an IMD according to the SSIEM ICD11 Classification, who were treated in Austria. Thus, a prevalence of 1.8/10 000 for 2020 and a median minimal birth prevalence of 16.9/100 000 (range 0.7/100 000-113/100 000) were calculated for the period 1921 to February 2021. We detected a male predominance (m:f = 1.2:1) and a mean age of currently alive patients of 17.6 years (range 5.16 months-100 years). Most common diagnoses were phenylketonuria (17.7%), classical galactosaemia (6.6%), and biotinidase deficiency (4.2%). The most common diagnosis categories were disorders of amino acid and peptide metabolism (819/2631; 31.1%), disorders of energy metabolism (396/2631; 15.1%), and lysosomal disorders (395/2631; 15.0%). In addition to its epidemiological relevance, the "Registry for Inherited Metabolic Disorders" is an important tool for enhancing an exchange between care providers. Moreover, by pooling expertise it prospectively improves patient treatment, similar to pediatric oncology protocols. A substantial requirement for ful filling this goal is to regularly update the registry and provide nationwide coverage with inclusion of all medical specialties

Effects of maternal history of depression and early life maltreatment on children's health-related quality of life

BACKGROUND There is a well-established link between maternal depression and child mental health. Similar effects have been found for maternal history of early life maltreatment (ELM). However, studies investigating the relationship of children's quality of life and maternal depression are scarce and none have been conducted for the association with maternal ELM. The aim of the present study was to investigate the effects of maternal history of ELM and depression on children's health-related quality of life and to identify mediating factors accounting for these effects. METHODS Our study involved 194 mothers with and without history of depression and/or ELM and their children between five and 12 years. Children's health-related quality of life was assessed by maternal proxy- and child self-ratings using the KIDSCREEN. We considered maternal sensitivity and maternal parenting stress as potential mediators. RESULTS We found an effect of maternal history of depression but not of maternal history of ELM on health-related quality of life. Maternal stress and sensitivity mediated the effects of maternal depression on child global health-related quality of life, as well as on the dimensions Autonomy & Parent Relation, School Environment (maternal and child rating), and Physical Wellbeing (child rating). LIMITATION Due to the cross-sectional design of the study, causal interpretations must be made with caution. Some scales yielded low internal consistency. CONCLUSIONS Maternal impairments in areas of parenting which possibly developed during acute depression persist even after remission of acute affective symptoms. Interventions should target parenting stress and sensitivity in parents with prior depression

Austrian Research and Technology Report 2023

Der Forschungs- und Technologiebericht ist der Lagebericht über die aus Bundesmitteln geförderte Forschung, Technologie und Innovation in Österreich und wird im Auftrag des Bundesministeriums für Bildung, Wissenschaft und Forschung (BMBWF) in Einvernehmen mit dem Bundesministerium für Klimaschutz, Umwelt, Energie, Mobilität, Innovation und Technologie (BMK) sowie dem Bundesministerium für Arbeit und Wirtschaft (BMAW) erstellt. Der vorliegende Bericht steht im Zeichen eines komplexen Wandels auf unterschiedlichen Ebenen, einerseits getrieben durch multiple Krisen, die nicht nur das Innovationsverhalten von Unternehmen und wissenschaftlichen Akteurinnen und Akteuren verändern, sondern auch veränderte Rahmenbedingungen mit sich bringen. Die Twin Transition ist allgegenwärtig. Im vorliegenden Bericht wird mit dem Schwerpunktthema der Fokus auf die Grüne Transformation in Forschung und Wirtschaft gelegt. Abstrac

Österreichischer Forschungs- und Technologiebericht 2023

Der Forschungs- und Technologiebericht ist der Lagebericht über die aus Bundesmitteln geförderte Forschung, Technologie und Innovation in Österreich und wird im Auftrag des Bundesministeriums für Bildung, Wissenschaft und Forschung (BMBWF) in Einvernehmen mit dem Bundesministerium für Klimaschutz, Umwelt, Energie, Mobilität, Innovation und Technologie (BMK) sowie dem Bundesministerium für Arbeit und Wirtschaft (BMAW) erstellt. Der vorliegende Bericht steht im Zeichen eines komplexen Wandels auf unterschiedlichen Ebenen, einerseits getrieben durch multiple Krisen, die nicht nur das Innovationsverhalten von Unternehmen und wissenschaftlichen Akteurinnen und Akteuren verändern, sondern auch veränderte Rahmenbedingungen mit sich bringen. Die Twin Transition ist allgegenwärtig. Im vorliegenden Bericht wird mit dem Schwerpunktthema der Fokus auf die Grüne Transformation in Forschung und Wirtschaft gelegt

Mendelian Randomisation study of the influence of eGFR on coronary heart disease.

Impaired kidney function, as measured by reduced estimated glomerular filtration rate (eGFR), has been associated with increased risk of coronary heart disease (CHD) in observational studies, but it is unclear whether this association is causal or the result of confounding or reverse causation. In this study we applied Mendelian randomisation analysis using 17 genetic variants previously associated with eGFR to investigate the causal role of kidney function on CHD. We used 13,145 participants from the UCL-LSHTM-Edinburgh-Bristol (UCLEB) Consortium and 194,427 participants from the Coronary ARtery DIsease Genome-wide Replication and Meta-analysis plus Coronary Artery Disease (CARDIoGRAMplusC4D) consortium. We observed significant association of an unweighted gene score with CHD risk (odds ratio = 0.983 per additional eGFR-increasing allele, 95% CI = 0.970-0.996, p = 0.008). However, using weights calculated from UCLEB, the gene score was not associated with disease risk (p = 0.11). These conflicting results could be explained by a single SNP, rs653178, which was not associated with eGFR in the UCLEB sample, but has known pleiotropic effects that prevent us from drawing a causal conclusion. The observational association between low eGFR and increased CHD risk was not explained by potential confounders, and there was no evidence of reverse causation, therefore leaving the remaining unexplained association as an open question