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Shy/inhibited young children are at risk for internalising difficulties; however, for many, this temperamental style does not result in mental health problems. This study followed a population-based sample of temperamentally inhibited preschool children into mid childhood to explore the aetiology of clinical-level anxious and depressive problems. Amongst inhibited preschool children, we aimed to predict each of clinical child anxiety and depressive problems in mid childhood from a broad range of potential risks (demographics, traumatic events and broader recent stressors, parents' well-being, and parenting practices). This study is based on data from a wider population trial of Cool Little Kids that recruited a representative sample of inhibited preschool children enrolled in their year before starting school. In 2011–2012, an inhibition screen was universally distributed to parents of children in their year before school (age 4 years) across eight diverse government areas in Melbourne, Australia. Participants were 545 parents of inhibited preschoolers (78% uptake, 545/703) who were followed to mid childhood (three annual waves 2015–2017, age 7–10 years) with 84% retention (456/545). Parents completed questionnaires spanning child ages 4–10 years, along with diagnostic interviews for child anxiety. Children also completed questionnaires in mid childhood. The questionnaires encompassed a variety of potential risks including sociodemographics, traumatic events, recent life stressors, parent wellbeing and parenting practices. In mid childhood, 57% (246/430) of inhibited preschoolers had a clinical level of anxiety problems while 22% (95/432) had depressive problems (by one or more sources). The aetiology analyses highlighted parent distress and parenting practices (overinvolved/protective, harsh discipline) as key predictors of inhibited preschoolers' internalising problems by mid childhood. Some high-risk families may not have participated. Child depression was not assessed with a diagnostic interview. The measures did not include every possible risk factor. The findings lend support to parenting programs for shy/inhibited young children that aim to prevent the development of anxiety and depression as they grow. [ABSTRACT FROM AUTHOR]

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CFX) in 62 males affected with FXS (3 to 32 years) stratified based on presence or absence of mosaicism and/or FMR1 mRNA silencing. Associations between ABC-CFX subscales and FMR1 mRNA levels, assessed using real-time PCR relative standard curve method, were also examined. The FXS group mosaic for premutation (PM: 55–199 CGGs) and FM alleles had lower irritability (p = 0.014) and inappropriate speech (p < 0.001) scores compared to males with only FM alleles and complete loss of FMR1 mRNA. The PM/FM mosaic group also showed lower inappropriate speech scores compared to the incomplete silencing (p = 0.002) group. Increased FMR1 mRNA levels were associated with greater irritability (p < 0.001), and lower health-related quality of life scores (p = 0.004), but only in the incomplete silencing FM-only group. The findings suggest that stratification based on CGG sizing and FMR1 mRNA levels may be warranted in future research and clinical trials utilising ABC-CFX subscales as outcome measures. [ABSTRACT FROM AUTHOR]

Background: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55–199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. Methods: This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours. Results: Comparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. Conclusions: Males with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence or absence of mosaicism. This suggests that interventions that primarily target cognitive abilities may in turn reduce the severity of maladaptive behaviours including ASD features in FXS. [ABSTRACT FROM AUTHOR]

The aim of this study was to explore how some temperamentally inhibited young children and not others in the general population develop anxiety disorders and broader clinical-level internalizing (anxious/depressive) problems, with a focus on the family. A brief screening tool for inhibition was universally distributed to parents of children in their year before starting school across eight socioeconomically diverse government areas in Melbourne, Australia (307 preschool services). Screening identified 11% of all children as inhibited. We invited all parents of inhibited children to participate in a longitudinal prevention study. Participants were 545 parents of inhibited pre-schoolers (78% uptake) of whom 498 (91%) completed assessment one year later and 469 (86%) two years later. Parents completed questionnaires to assess parenting practices, parent wellbeing, and child internalizing problems. Parents also engaged in structured diagnostic interviews to assess child anxiety disorders. During the follow up period close to half of the inhibited young children had anxiety disorders and one in seven had clinical-level internalizing problems, with girls perhaps at higher risk. The family variables significantly predicted inhibited children's anxiety disorders and broader internalizing problems. For child anxiety disorders, overinvolved/protective parenting was particularly important for girls and boys, and poorer parent wellbeing contributed. For child anxious/depressive problems, harsh discipline was a consistent predictor for girls and boys, and poorer parent wellbeing again contributed. These etiological findings support early intervention for temperamentally inhibited young children that focuses on the family environment to prevent the development of mental health problems. [ABSTRACT FROM AUTHOR]

Language disorder (LD) and social-emotional and behavioural (SEB) difficulties are common childhood problems that often co-occur. While there is clear evidence of these associations from clinical samples, less is known about community samples. This paper examines these associations in children aged 4-7 years from a community-based longitudinal study. 771 families provided questionnaire and assessment data at 4, 5 and 7 years. Parent-reported SEB difficulties were measured at each point (SDQ). Child language was directly assessed at 4 (CELF-P2), 5 and 7 years (CELF-4). Linear regression analysis was used to compare cross-sectional differences in mean SDQ scores between children with and without LD at each time point. Linear regression was then used to examine how patterns of language development (language disordered at three time points; never disordered; disordered at one or two time points, i.e. ‘unstable’ group) related to SEB difficulties at each age, adjusted for potential confounders, as in the previous analyses. Higher hyperactivity/inattention scores were associated with LD at each age. In fully adjusted models, there was little difference in mean emotional symptoms scores between children with and without LD. The ‘never’ LD group had lower mean SDQ scores at each time point than the ‘unstable’ group. Findings highlight that children with persistent LD from preschool to early primary school may be more likely to have concomitant SEB difficulties, particularly behavioural difficulties. Those with unstable LD may also have co-occurring SEB difficulties, showing a need for education and health professionals to monitor early language and SEB development. [ABSTRACT FROM AUTHOR]

Background: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. Methods: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. Results: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants ( p =.0055 and.0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. Conclusions: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. [ABSTRACT FROM AUTHOR]