Autism likelihood in infants born to mothers with asthma is associated with blood inflammatory gene biomarkers in pregnancy.

Mothers with asthma or atopy have a higher likelihood of having autistic children, with maternal immune activation in pregnancy implicated as a mechanism. This study aimed to determine, in a prospective cohort of mothers with asthma and their infants, whether inflammatory gene expression in pregnancy is associated with likelihood of future autism. Mothers with asthma were recruited to the Breathing for Life Trial. RNA was extracted from blood samples collected at mid-pregnancy. 300 ng total RNA was hybridized with the nCounter Human Inflammation gene expression panel (Nanostring Technologies, 249 inflammation-related genes). Parents completed the First Year Inventory (FYI) at 12-month follow-up, which assessed an infant's likelihood for autism across 2 behavioural domains: social communication and sensory regulation. A total score ≥19.2 indicated increased likelihood for future autism. Inflammatory gene expression was profiled from 24 mothers: four infants scored in the high autism likelihood range; 20 scored in the low autism likelihood range. Six inflammatory genes were differentially expressed and significantly up-regulated in the high autism likelihood group: CYSLTR2, NOX1, C1QA, CXCL10, C8A, IL23R. mRNA count significantly correlated with social communication FYI score for CYSLTR2 (Pearson r = 0.46, p = 0.024) and CXCL10 (r = 0.43, p = 0.036) and with sensory regulation score for ALOX5 (r = -0.43, p = 0.038) and MAFK (r = -0.46, p = 0.022). In this proof-of-concept study, inflammatory gene expression during pregnancy in mothers with asthma was associated with an infant's likelihood of future autism as well as scores relating to social communication and sensory regulation.

Effect of fractional exhaled nitric oxide (FENO)-based asthma management during pregnancy versus usual care on infant development, temperament, sensory function and autism signs.

Asthma during pregnancy is associated with a range of adverse perinatal outcomes. It is also linked to increased rates of neurodevelopmental conditions in the offspring. We aimed to assess whether fractional exhaled nitric oxide (FENO)-based asthma management during pregnancy improves child developmental and behavioural outcomes compared to usual care. The Breathing for Life Trial was a randomised controlled trial that compared FENO-based asthma management during pregnancy to usual care. Participants were invited to the developmental follow-up, the Breathing for Life Trial - Infant Development study, which followed up infants at 6 weeks, 6 months and 12 months. The primary outcomes were measured in infants at 12 months using the Bayley-III: Cognitive, Language and Motor composite scores. Secondary outcomes included Bayley-III social-emotional and adaptive behaviour scores, autism likelihood and sensory and temperament outcomes. The exposure of interest was the randomised intervention group. Two hundred and twenty-two infants and their 217 participating mothers were recruited to the follow-up; 107 mothers were in the intervention group and 113 were in the control group. There was no evidence of an intervention effect for the primary outcomes: Bayley-III cognitive (mean = 108.9 control, 108.5 intervention, p = 0.93), language (mean = 95.9 control, 95.6 intervention, p = 0.87) and motor composite scores (mean = 97.2 control, 97.9 intervention, p = 0.25). Mean scores for secondary outcomes were also similar among infants born to control and FENO group mothers, with few results reaching p < 0.05. CONCLUSION:  In this sample, FENO-guided asthma treatment during pregnancy did not improve infant developmental outcomes in the first year of life. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: ACTRN12613000202763. WHAT IS KNOWN: • Maternal asthma during pregnancy has been associated with increased rates of neurodevelopmental conditions in offspring, including intellectual disability and autism. WHAT IS NEW: • This is the first study to examine how managing asthma during pregnancy via a FENO-guided algorithm or usual care affects infant developmental and behavioural outcomes. While the results of the study showed no impact of the intervention, and therefore do not support the integration of FENO-based management of asthma in antenatal settings for optimal infant development, they do send a positive message about the implications of active asthma management during pregnancy on infant developmental outcomes.

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1-weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source-based morphometry (SBM) pipeline (SS-Detect) to generate structural brain patterns (SBPs) that capture co-varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV-SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel-based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.

Development of a Brief Coparenting Measure: The Coparenting Competence Scale.

Coparenting competence (CC) is a concept that describes the sense of collective efficacy that parents experience in raising children. An advantage of CC is that it bridges a gap between family systems thinking and efficacy theory, where extant research and theory have focused on the self-efficacy of one or both parents. This study aimed to develop a self-reported measure of CC. METHODOLOGY: Participants (n = 302), including cohabiting mothers (n = 240) and fathers (n = 62), completed an online survey (112 items) comprising demographic questions, the Coparenting Relationship Scale (CRS), the Parenting Sense of Competence Scale (PSOC), the Strengths and Difficulties Questionnaire (SDQ), and 36 items designed to explore perceptions of CC. RESULTS: Factor analyses on 36-CC items identified 10 items that reliably formed a brief Coparenting Competence Scale (CCS; Alpha = 0.89). Analysis of convergent and divergent validity demonstrated that the CCS measures a unique construct that is linked to parenting self-efficacy, measured by PSOC (r = 0.47), and coparenting quality, assessed by the CRS (r = 0.63). There was a significant association between CCS and SDQ across age groups and an association stronger than that found for the CRS and SDQ in the current cohort. CONCLUSIONS AND IMPLICATIONS: The study found support for the reliability and validity of the CCS. Coparenting competence, assessed by the CCS, was found to be distinct from factors previously used to represent coparenting quality in multivariate scales. The strength of associations between the CCS and SDQ suggests this new measure may have an important role in coparenting research.

The relationship between pitch contours in infant-directed speech and early signs of autism in infancy.

PURPOSE: Mother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development. However, little research has examined pitch contours towards infants with socio-communication and language differences, such as those displaying early signs of autism spectrum disorder (autism). This study aimed to explore the association of infant autism signs and pitch contours used by mothers with their 12-month-old infants. METHOD: Mother-infant dyads (n = 109) were recruited from the University of Newcastle BabyLab. Parent-infant dyads completed a 15-min interaction, from which a total of 36,128 pitch contours were measured and correlated with infant autism signs. Infant autism signs were assessed via parent-report (First Year Inventory; Reznick et al., 2007). A subset of high-risk infants (admitted to a neonatal intensive care unit, n = 29) also received an observation-based assessment (Autism Detection in Early Childhood; Young & Nah, 2016). RESULTS: Mothers used fewer sinusoidal contours when they rated their infant as displaying more autism signs (rs = - .30, p = .004) and more autism-related sensory regulation issues (rs = - .31, p = .001). Mothers used fewer flat contours if their infant displayed more researcher-rated autism signs (r2 = - .39, p = .04). CONCLUSIONS: This study provides the early evidence that maternal pitch contours in IDS are related to early autism signs in infancy. If our findings are replicated in follow up studies where infants are followed to diagnosis, maternal IDS may be an important element of future early intervention protocols that focus on communication for infants with risk for autism.

'If I don't Do It, I'm Out of Rhythm and I Can't Focus As Well': Positive and Negative Adult Interpretations of Therapies Aimed at 'Fixing' Their Restricted and Repetitive Behaviours in Childhood.

Restricted and repetitive behaviours (RRBs) are observed in many children presenting with characteristics of autism and are frequently the targets of psychological interventions. This study used Interpretative Phenomenological Analysis (IPA) to identify positive and negative interpretations from four young adults who received behavioural interventions in their childhood designed to 'fix' RRBs. Two superordinate themes were identified: (1) Doubt, stigma and being fixed according to others, and (2) Embracing Authenticity. They highlighted juxtaposed positions from exclusion, rejection, criticism, and self-doubt in childhood, to rejecting societal censure and embracing authentic growth in adult life. As adults, though the participants recognised themselves as neurologically different from others, they redefined themselves through a lens of neurodiversity, and therefore as not needing to be fixed.

Experiences of non-invasive prenatal screening: A survey study.

BACKGROUND: In Australia, using non-invasive prenatal testing (NIPT) to screen for fetal abnormalities is becoming more commonplace. However, there is a lack of standardised procedures surrounding pre-test counselling. This holds the potential for variability in pregnant people's experiences when undergoing NIPT, which subsequently may impact their ability to make informed decisions surrounding NIPT results. AIM: This study sought to characterise the experiences of Australian women undergoing NIPT, including perceptions of informed choice, counselling experiences and decision to undergo NIPT. MATERIALS AND METHODS: Australian women who had been recently pregnant (n = 94) completed an online survey which assessed: their knowledge of and attitude toward NIPT; satisfaction with counselling; satisfaction with their decision; and decisional conflict to undergo NIPT. The survey also allowed participants to provide qualitative information about their counselling experience and reasons for undergoing NIPT. RESULTS: Overall, participants had good knowledge of and positive attitudes toward NIPT, experienced low decisional conflict and were overall satisfied with their counselling experience and decision to undergo NIPT. However, some participants expressed dissatisfaction with the lack of information provided, and biased language, by counselling providers. The desire to be informed was the most frequent reason for undergoing NIPT. CONCLUSION: The provision of accurate and objective information in pre-test counselling is important to reduce decisional conflict and improve satisfaction with the decision to undergo NIPT. It is recommended counselling providers present pregnant people with neutral, objective, and accurate information at the time of pre-test counselling.

Parenting stress in mothers with asthma during the postpartum period.

OBJECTIVE: Maternal asthma often complicates pregnancy and is linked with poorer quality of life. Additionally, individuals with asthma are at an increased risk of depression and anxiety. We examined whether asthma during pregnancy is related to parenting stress in the first year postpartum and if this relationship varies with level of asthma control. METHODS: This cohort survey-based study included mothers with (n = 157) and without (n = 79) asthma. Mothers with asthma participated in this study following participation in a randomized controlled trial of a novel asthma management strategy during pregnancy. Mothers completed the Parenting Stress Index - Short Form during the first 12 months postpartum. Mothers with asthma also completed the Asthma Control Questionnaire. RESULTS: Parenting stress did not differ between mothers with and without asthma. Additionally, for mothers with asthma, there were no differences in levels of parenting stress based on asthma control. CONCLUSIONS: This study suggests that mothers with asthma are not at an increased risk for excessive parenting stress. However, due to response and sampling bias, levels of parenting stress in asthmatic mothers may be underreported in our sample.

Domains and measures of social cognition in acquired brain injury: A scoping review.

In acquired brain injury (ABI), social cognition is a contributing factor to the changes observed in functional outcomes. However, progress in assessing and understanding social cognitive impairments is limited by a lack of consistency in terminology and the proliferation in assessment tools, leading to a lack of consensus on what should be assessed and how. This review aims to examine the domains of social cognition commonly assessed in ABI, the assessment tools used, and the appropriateness of these tools for researchers and clinicians. Using the Arksey and O'Malley scoping review methodology, 367 articles reporting results from 10,930 people with an ABI met our inclusion criteria. The five most commonly assessed domains of social cognition were emotion perception, theory of mind, social communication, identity recognition and empathy. The most commonly used measure of these domains included: the Ekman and Friesen photo series, Faux Pas Recognition Test, La Trobe Communication Questionnaire, Benton Facial Recognition Test and the Interpersonal Reactivity Index. There are well-validated measures readily available that are underused in favour of non-standardized measures clinically or the development of one's own measure in research. The appropriateness of the identified measure for research and clinical use was discussed, including suggestions for future research.

Early Sensory and Temperament Features in Infants Born to Mothers With Asthma: A Cross-Sectional Study.

Maternal asthma in pregnancy is associated with an increased risk of adverse perinatal outcomes. Adverse perinatal outcomes may result in poorer infant developmental outcomes, such as temperament and sensory difficulties. This study aimed to (1) assess differences in temperament and sensory features between infants born to mothers with and without asthma and (2) investigate differences in these infant behaviours as a function of maternal asthma severity and asthma control. Mothers completed the Carey Temperament Scales and the Sensory Profile 2 at either 6 weeks, 6 months, or 12 months postpartum. Overall, we observed no significant differences between infants born to mothers with and without asthma in their temperament or sensory features; scores in both domains fell within the normative range. More infants in the asthma group, however, were reported to be highly distractible. When compared with normative data, infants in both groups were reported to have poor predictability of biological functions and fewer infants engaged in low levels of sensory behaviours. Some infants were observed to experience difficulties with hyper-reactivity within several domains. Maternal asthma severity and control during pregnancy were not linked to significant differences between infant temperament and sensory features. The present findings indicate that infants born to mothers with asthma are not at an increased risk overall for temperament or sensory difficulties, compared to control infants. However, a subset of infants across both groups may be at risk for attention or sensory hyper-reactivity difficulties. Further research into the developmental outcomes of infants born to mothers with asthma is warranted.

E-technology social support programs for autistic children: Can they work?

Autism is a neurodevelopmental condition with associated difficulties that present differently across individuals. One such difficulty is recognizing basic and complex facial expressions. Research has previously found that there are many evidence-based support programs available for building non-verbal communication skills. These programs are frequently administered with a therapist or in a group setting, making them inflexible in nature. Programs hosted on e-technology are becoming increasingly popular, with many parents supportive of them. Applications (apps) that are hosted on technology such as iPads or mobile phones allow users to engage in building skills in real-time social settings and own what they are learning. These technologies are frequently used by autistic children, with apps typically focusing on identifying facial features. Yet at this current time, there are mixed reviews of how to design such programs and what their theoretical backing is, with many studies using a mix of observation and psychological assessments as outcome measures. Eye-tracking and electroencephalography are established methodologies that measure neural processing and gaze behaviors while viewing faces. To better support the field moving forward, objective measures such as these are a way to measure outcomes of apps that are designed for helping children on the spectrum build skills in understanding facial expressions.

What parents want to know in the first postnatal year: A Delphi consensus study.

BACKGROUND: Early postnatal psychoeducation intervention programmes can support new parents in the adjustment to parenthood. However, most psychoeducation programmes focus on pregnancy and the birth and fail to deliver relevant and age-specific information to new parents about what to expect in the postpartum period. Learning more about this intense period in a new parent's life will facilitate a healthy transition to parenthood. Considering the needs of time-poor but tech-savvy new parents, it is also necessary to rethink the delivery methods of such information to maximize impact. METHOD: Two panels of experts in perinatal mental health (eight professionals and eight parents with lived experience) participated in a Delphi consensus study to establish what topics of information are most important for parents in the first postnatal year. RESULTS: A total of 89 topics of information were endorsed by at least 80% of both panels as Essential or Good to Know information for new parents. The topics were grouped under the following themes: sleep, attachment, co-parenting, parental mental health, developmental milestones, feeding, social and community support, safety and health. CONCLUSIONS: This study established consensus between perinatal experts and parents with lived experience in order to produce relevant m-health psychoeducation for parents in the first postnatal year. The study findings will inform the development of perinatal m-health psychoeducation programmes.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants.

Be Healthe for Your Heart: A Pilot Randomized Controlled Trial Evaluating a Web-Based Behavioral Intervention to Improve the Cardiovascular Health of Women with a History of Preeclampsia.

This pilot randomized controlled trial (RCT) aimed to determine the acceptability and preliminary efficacy of a web-based cardiovascular disease (CVD) prevention intervention for women following preeclampsia. Australian women with a recent history (≤4 years post diagnosis) of preeclampsia were randomized into two study arms: (1) Be Healthe for your Heart, a web-based behavioral intervention or; (2) Control, access to the National Heart Foundation website. Assessments were conducted at baseline, and after three months. Intervention acceptability and impact on absolute CVD 30-year risk score, CVD risk markers and health behaviors were assessed. Twenty-four of 31 (77.4%) women completed the three-month assessment. Eleven out of 13 intervention participants (84.6%) agreed/strongly agreed they were satisfied with the program, with a mean score of 4.2 ± 0.9 (maximum of five). There were no significant between or within group differences in absolute CVD risk, CVD risk markers or health behaviors from baseline to three months. Women with a history of preeclampsia were successfully recruited and retained and they reported high levels of acceptability with the Be Healthe for your Heart program. Further research is therefore needed from powered trials to determine the impact of web-based lifestyle interventions on CVD risk in this at-risk group.

The temperament features associated with autism spectrum disorder in childhood: A systematic review.

BACKGROUND: Temperament is an important construct that shapes child development. Temperament is suggested to present differently in different groups, such as children with neurodevelopmental disorders. However, it is not known whether there are specific temperament features associated with Autism Spectrum Disorder (ASD). AIM: This systematic review aimed to synthesise extant literature to determine whether there are temperament features associated with ASD in infancy, toddlerhood and childhood. METHODS AND PROCEDURES: Following the PRISMA guidelines for systematic reviews, we searched PsycINFO, CINAHL, Academic Search Ultimate and ProQuest for all available articles from database conception until January 2020. The Joanna Briggs Institute Critical Appraisal checklists were used to assess the methodological quality of included articles. OUTCOMES AND RESULTS: Twenty-six articles met the selection criteria: (1) reported on the temperament of children (0-12 years of age) diagnosed with ASD, (2) peer-reviewed; and (3) published in English. Articles varied in overall methodological quality. Infants later diagnosed with ASD were found to more frequently be described as having 'easy' temperament features in early infancy, compared to typically developing infants and infants with developmental concerns but not ASD. Once diagnosed, children with ASD were reported to, as a group, display more negative affect, less extraversion and less effortful control than typically developing children. CONCLUSIONS AND IMPLICATIONS: The literature suggests that more challenging temperament features are associated with ASD in childhood, but less is known about within group variability. Overall, this review highlights the need for further investigation into the variability of temperament in children with ASD.

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

OBJECTIVE: 22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group. METHODS: Subcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female). RESULTS: Compared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder. CONCLUSIONS: In the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

"She'll be able to live independently as long as I'm around": The "lived" experience of parenting a child with 22q11.2 deletion syndrome in the transition to adulthood.

BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome. Parents of emerging adults with 22q11DS have an intense and ongoing involvement in their child's life. This study explores the lived experience of parents in relation to their child becoming independent and establishing intimate relationships. METHOD: Interpretative phenomenological analysis was used to explore the positive and negative experiences of five parents of emerging adults with 22q11DS. RESULTS: Supervised independence overarched four subordinate themes. These themes highlighted the difficulties experienced by parents attempting to relinquish control whilst still experiencing a need to keep their child safe as their child negotiated a complex stage of life. Parents waited for "signs" from their child before initiating conversations about intimate relationships. CONCLUSIONS: These findings provide insight into the lived experience of parenting a child through the transition into adulthood, providing a catalyst for further research with the aim of facilitating better services for families.

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.

22q11.2 deletion syndrome (22q11DS)-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM microstructure in 22q11DS (334 22q11.2 deletion carriers and 260 healthy age- and sex-matched controls; age range 6-52 years). Using harmonization protocols developed by the ENIGMA-DTI working group, we identified widespread reductions in mean, axial and radial diffusivities in 22q11DS, most pronounced in regions with major cortico-cortical and cortico-thalamic fibers: the corona radiata, corpus callosum, superior longitudinal fasciculus, posterior thalamic radiations, and sagittal stratum (Cohen's d's ranging from -0.9 to -1.3). Only the posterior limb of the internal capsule (IC), comprised primarily of corticofugal fibers, showed higher axial diffusivity in 22q11DS. 22q11DS patients showed higher mean fractional anisotropy (FA) in callosal and projection fibers (IC and corona radiata) relative to controls, but lower FA than controls in regions with predominantly association fibers. Psychotic illness in 22q11DS was associated with more substantial diffusivity reductions in multiple regions. Overall, these findings indicate large effects of the 22q11.2 deletion on WM microstructure, especially in major cortico-cortical connections. Taken together with findings from animal models, this pattern of abnormalities may reflect disrupted neurogenesis of projection neurons in outer cortical layers.

Observational study of mental health in asthmatic women during the prenatal and postnatal periods.

Objective: We aimed to examine the prevalence and severity of psychological distress of women with asthma in both the prenatal and postnatal periods, and to determine whether asthmatic women with and without mental health problems differ in self-management, medications knowledge, and asthma symptoms.Methods: We assessed spirometry performance and asthma symptoms in 120 women (mean age 29.8 years) before 23 weeks gestation, as part of the Breathing for Life Trial (Trial ID: ACTRN12613000202763). Prenatal depression data was obtained from medical records. At 6 weeks postpartum, we assessed general health, self-reported asthma control, depression symptoms (with the Edinburgh Postnatal Depression Scale) and adaptive functioning (with the Achenbach System of Empirically Based Assessment scales).Results: Twenty percent of our sample reported having a current mental health diagnosis, 14% reported currently receiving mental health care, while 47% reported having received mental health care in the past (and may/may not have received a diagnosis). The sample scored high on the Aggressive Behavior, Avoidant Personality, and Attention Deficit/Hyperactivity scales. Poorer self-reported postnatal asthma control was strongly correlated with elevated somatic complaints, externalizing problems, antisocial personality problems, and greater withdrawal. Prenatal spirometry or asthma severity and control were largely not associated with measures of psychopathology.Conclusions: These findings indicate that pregnant women with asthma frequently report issues with psychopathology during the prenatal and postnatal periods, and that the subjective perception of asthma control may be more related to psychopathology than objective asthma measures. However, due to sample bias, these findings are likely to be understated.

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size.

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen's d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = -1.01/-1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.