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SCN2A-Related Disorders
- Alfred L. George, Jr., Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest, Shawn Egan, Isabel Haviland, Jennifer A. Kearney, Leah Schust Myers, Heather E. Olson, Stephan J. Sanders, Christina SanInocencio, Joseph Symonds, Christopher H. Thompson
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- Expected online publication date:
- July 2024
- Print publication:
- 31 July 2024
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- Element
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SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.
Population heterogeneity in developmental trajectories of internalising and externalising mental health symptoms in childhood: differential effects of parenting styles
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- Ioannis Katsantonis, Jennifer E. Symonds
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- Journal:
- Epidemiology and Psychiatric Sciences / Volume 32 / 2023
- Published online by Cambridge University Press:
- 31 March 2023, e16
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- Article
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Aims
Multiple studies have connected parenting styles to children's internalising and externalising mental health symptoms (MHS). However, it is not clear how different parenting styles are jointly influencing the development of children's MHS over the course of childhood. Hence, the differential effects of parenting style on population heterogeneity in the joint developmental trajectories of children's internalising and externalising MHS were examined.
MethodA community sample of 7507 young children (ages 3, 5 and 9) from the Growing Up in Ireland cohort study was derived for further analyses. Parallel-process linear growth curve and latent growth mixture modelling were deployed.
ResultsThe results indicated that the linear growth model was a good approximation of children's MHS development (CFI = 0.99, RMSEA = 0.03). The growth mixture modelling revealed three classes of joint internalising and externalising MHS trajectories (VLMR = 92.51, p < 0.01; LMR = 682.19, p < 0.01; E = 0.86). The majority of the children (83.49%) belonged to a low-risk class best described by a decreasing trajectory of externalising symptoms and a flat low trajectory of internalising MHS. In total, 10.07% of the children belonged to a high-risk class described by high internalising and externalising MHS trajectories, whereas 6.43% of the children were probable members of a mild-risk class with slightly improving yet still elevated trajectories of MHS. Adjusting for socio-demographics, child and parental health, multinomial logistic regressions indicated that hostile parenting was a risk factor for membership in the high-risk (OR = 1.47, 95% CI 1.18–1.85) and mild-risk (OR = 1.57, 95% CI 1.21–2.04) classes. Consistent (OR = 0.75, 95% CI 0.62–0.90) parenting style was a protective factor only against membership in the mild-risk class.
ConclusionsIn short, the findings suggest that a non-negligible proportion of the child population is susceptible to being at high risk for developing MHS. Moreover, a smaller proportion of children was improving but still displayed high symptoms of MHS (mild-risk). Furthermore, hostile parenting style is a substantial risk factor for increments in child MHS, whereas consistent parenting can serve as a protective factor in cases of mild-risk. Evidence-based parent training/management programmes may be needed to reduce the risk of developing MHS.
4 - Emerging gender differences in times of multiple transitions
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- By Jennifer E. Symonds, University of Bristol, Maurice Galton, University of Cambridge, Linda Hargreaves, University of Cambridge
- Edited by Ingrid Schoon, Institute of Education, University of London, Jacquelynne S. Eccles, University of Michigan, Ann Arbor
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- Book:
- Gender Differences in Aspirations and Attainment
- Published online:
- 05 October 2014
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- 25 September 2014, pp 101-122
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Summary
Abstract
Gendered identities can develop throughout the life-span in an undulating process spurred by significant physiological, cognitive, and social events. Two important developmental transitions occur in early adolescence: changing schools and puberty. This chapter reviews the development of gender identity and gender differences in school engagement, aspirations, and achievement during these multiple transitions. It synthesizes the findings of in-depth, longitudinal studies of school transition from the early 1970s to the 2000s. Most gender differences documented by this literature occur independently of school transition. These regard children’s friendships, dating, emotional health, attitudes to learning, and academic competencies. With school transition comes the tendency for girls to focus more on their physical and emotional selves, and a risk for boys to disengage from education. Gender differences in early adolescents’ attitudes toward subjects, learning, and career choice appear to have reduced since the 1970s as wider social stereotypes have changed. However, the majority of gender differences noted are conserved across time, suggesting a great deal of biological and social stability across 40 years.
seven - Trends in adolescent substance use and their implications for understanding trends in mental health
- Edited by Ann Hagell
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- Book:
- Changing Adolescence
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- Bristol University Press
- Published online:
- 01 September 2022
- Print publication:
- 15 March 2012, pp 117-150
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Summary
Introduction
A clear social change over the second half of the 20th century was the increase in the proportion of young people using alcohol and different kinds of other drugs, which have become a conspicuous part of the social landscape. The shifting pattern of use by young people and the possible links to trends in mental health problems are the subject of this chapter.
The interface between adolescence and substance use is particularly salient. To start with, adolescence is generally when people begin using substances. It is thus a particularly interesting period with respect to the natural history of substance use; when and how people start is, we know from research, important to their later outcomes, so adolescence constitutes a critical period (Mirza and Mirza, 2008).
Second, brain and hormonal changes in adolescence have special significance when we are considering the impact of drugs. Recent research on adolescent brain development points out how much basic building work is still being undertaken during the teenage years, and mind-altering substances could potentially have different effects at this stage compared with other age groups (Morris and Wagner, 2007; Windle et al, 2008). There is some evidence that adolescent brains show increased sensitivity to immediate rewards and different perspectives on risk taking, making drug use potentially more dangerous (Spear and Varlinskaya, 2005). Again, this is important to a consideration of trends and particularly to the potential for a relationship with mental health symptoms.
Third, the social challenges of identity development, the establishment of autonomy and the particular focus on peer groups may also all create a period of extra vulnerability to drug and alcohol use in adolescence. The social structures that, in their own ways, shape the initiation of young people into the world of substance use may have changed over time.
Research questions
Despite the existence of quite a lot of data, and much commentary, it still seemed that there was a need for an objective evaluation of the long-term time trends in substance use with a clear focus on the adolescent years, and also an evaluation of the extent of any potential causal relationship with adolescent mental health symptoms.
four - Trends in adolescent time use in the United Kingdom
- Edited by Ann Hagell
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- Book:
- Changing Adolescence
- Published by:
- Bristol University Press
- Published online:
- 01 September 2022
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- 15 March 2012, pp 47-74
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Summary
Introduction
Asking how young people's use of time in the UK has changed over recent decades is an important, but deceptively simple, question. How we use our time is both a measurement of direct change, and is also an index of more subtle, underlying shifts in social values and preoccupations, so it is crucial to our task of looking at social change. Understanding what young people are doing and who they are doing it with is an important anchor for understanding the social patterning of interactions that are part of the transition to adulthood for young people.
The way that children and young people use their time involves both elements that are structurally arranged by the legal and statutory frameworks within which they order their days (compulsory attendance at education, for example), and elements of ‘free’ (and therefore more clearly ‘chosen’) time. Patterns of time use thus reflect both how we as a society shape our time, and how we decide to spend some of it ourselves. As Professor Robert Sampson challenged us early on in our work, understanding time use helps us see how we as a society have chosen (implicitly or explicitly) to structure the transition from adolescence to adulthood.
How we spend our time is such a crucial question that it formed a central part of the work of the Changing Adolescence Programme. We funded a team led by Professor Leon Feinstein who was then at the Institute of Education, working with Karen Robson and Annik Sorhaindo in London, and Dr Stephen Peck and Professor Jacqueline Eccles at the University of Michigan, USA. This chapter draws on the work that they did in setting out the key constructs and identifying previous work on the topic. As a result of the findings of the review, the Foundation also supported an exercise in mining the existing UK Time Use Surveys for useful data that would fill in some of the gaps, and help pose more sharply certain questions. This chapter synthesises the main messages from both the review, and from the additional analyses, as well as drawing on a wider reading of the relevant literature. Fuller versions of the work on which it draws are available from Dr Stephen Peck (for the review), or from the Foundation (for the data analysis).