In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day-to-day lives of individuals with RTT and their families.

/pdf/clinical-and-biological-progress-over-50-years-in-rett-3ihm7bacy8.pdf

Clinical and biological progress over 50 years in Rett syndrome

Psychiatric diseases have a strong heritable component known to not be restricted to DNA sequence-based genetic inheritance alone but to also involve epigenetic factors in germ cells. Initial evidence suggested that sperm RNA is causally linked to the transmission of symptoms induced by traumatic experiences. Here, we show that alterations in long RNA in sperm contribute to the inheritance of specific trauma symptoms. Injection of long RNA fraction from sperm of males exposed to postnatal trauma recapitulates the effects on food intake, glucose response to insulin and risk-taking in adulthood whereas the small RNA fraction alters body weight and behavioural despair. Alterations in long RNA are maintained after fertilization, suggesting a direct link between sperm and embryo RNA.

/pdf/alterations-in-sperm-long-rna-contribute-to-the-epigenetic-1kjgf6fmux.pdf

Alterations in sperm long RNA contribute to the epigenetic inheritance of the effects of postnatal trauma

Outcome studies for eating disorders regularly measure pathology change or remission as the only outcome. Researchers, patients and recovered individuals highlight the importance of using additional criteria for measuring eating disorder recovery. There is no clear consensus on which additional criteria are most fundamental. Studies focusing on the perspectives of recovered patients show criteria which are closely related to dimensions of positive functioning as conceptualized in the complete mental health model. The aim of this study was to identify fundamental criteria for eating disorder recovery according to recovered individuals. A systematic review and a qualitative meta-analytic approach were used. Eighteen studies with recovered individuals and meeting various quality criteria were included. The result sections of the included papers were searched for themes that were stated as criteria for recovery or ‘being recovered’. All themes were analyzed using a meta-summary technique. Themes were labeled into criteria for recovery and the frequency of the found criteria was examined. In addition to the remission of eating disorder pathology, dimensions of psychological well-being and self-adaptability/resilience were found to be fundamental criteria for eating disorder recovery. The most frequently mentioned criteria were: self-acceptance, positive relationships, personal growth, decrease in eating disorder behavior/cognitions, self-adaptability/resilience and autonomy. People who have recovered rate psychological well-being as a central criterion for ED recovery in addition to the remission of eating disorder symptoms. Supplementary criteria, besides symptom remission, are needed to measure recovery. We recommend including measurements of psychological well-being and self-adaptability/resilience in future research, such as outcome studies and in routine outcome measurement.

/pdf/identifying-fundamental-criteria-for-eating-disorder-2pcei7uqq8.pdf

Identifying fundamental criteria for eating disorder recovery : a systematic review and qualitative meta-analysis

Video game technology is changing from 2D to 3D and virtual reality (VR) graphics. In this research, we analyze how an identical video game that is either played in a 2D, stereoscopic 3D or Head-Mounted-Display (HMD) VR version is experienced by the players, and how brands that are placed in the video game are affected. The game related variables, which are analyzed, are presence, attitude towards the video game and arousal while playing the video game. Brand placement related variables are attitude towards the placed brands and memory (recall and recognition) for the placed brands. 237 players took part in the main study and played a jump’n’run game consisting of three levels. Results indicate that presence was higher in the HMD VR than in the stereoscopic 3D than in the 2D video game, but neither arousal nor attitude towards the video game differed. Memory for the placed brands was lower in the HMD VR than in the stereoscopic 3D than in the 2D video game, whereas attitudes towards the brands were not affected. A post hoc study (n = 53) shows that cognitive load was highest in the VR game, and lowest in the 3D game. Subjects reported higher levels of dizziness and motion-sickness in the VR game than in the 3D and in the 2D game. Limitations are addressed and implications for researchers, marketers and video game developers are outlined.

/pdf/the-same-video-game-in-2d-3d-or-virtual-reality-how-does-5b1p5xc1uo.pdf

The same video game in 2D, 3D or virtual reality - How does technology impact game evaluation and brand placements?

We conducted a meta-analysis to analyze the effects of randomized controlled positive psychological interventions on subjective and psychological well-being. Our aim was to extend previous research by following a more comprehensive approach in the selection of studies, by including new moderators, by focusing on adult nonclinical populations and increases in well-being, and by comparing the effects of interventions targeting subjective and psychological well-being (i.e., hedonism or eudemonia) or a combination of the two. In contrast to previous analyses, we compared effects on different outcomes and contrasted effects of technology-assisted interventions with traditional ones. We included 68 randomized controlled studies of nonclinical populations with a total of 16,085 participants. The results showed that positive psychological interventions do increase well-being. The overall effect size (Cohen’s d) was 0.23, but it was 0.08 for psychological well-being, 0.22 for subjective well-being, and 0.43 when the studies targeted both types of well-being. Longer interventions showed stronger immediate effects than shorter ones, and interventions based on traditional methods were more effective than those that used technology-assisted methods. With respect to short-term outcomes, there was a negative relation to age, but when long-term effects were considered, the relation to age was positive. Overall, we also found evidence of long-term effects of the interventions.

A Meta-Analysis of the Effectiveness of Randomized Controlled Positive Psychological Interventions on Subjective and Psychological Well-Being

ObjectivesWe developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.MethodsAn initial guidelines ...

/pdf/clinical-guidelines-for-management-of-bone-health-in-rett-1w4960jrlp.pdf

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age and genotype were investigated Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking, and Challenge Motor scores were poorer with increasing age and those with the pArg133Cys, pArg294* or pArg306Cys mutation achieved higher scores than those with a large deletion The repeatability of clinical assessment was excellent (intraclass correlation coefficient for total score 099, 95% CI 093-098) The standard error of measurement for the total score was 2 points and we would be 95% confident that a change 4 points in the 45-point scale would be greater than within-subject measurement error The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

/pdf/validating-the-rett-syndrome-gross-motor-scale-4x6j2pwoqx.pdf

Validating the Rett Syndrome Gross Motor Scale

Rett syndrome (RTT) is a neurodevelopmental disorder, which mainly affects females and results in multiple disabilities. Many clinical descriptions of the symptoms and functional abilities have been made medically, though mainly in children with RTT. Previous reports have established that even though the syndrome causes severe psychomotor disability, women with RTT can live long into adulthood.Purpose: We aim to describe what to expect from aging women with RTT regarding some of the basic functional abilities that are used in daily activities and that could have an impact on quality of life in these women.Methods: A team of two medical doctors, a physiotherapist and an educational psychological adviser, performed clinical evaluations of 27 women with RTT in Denmark above 30 years of age and confirmed MECP2 mutation.Results: We found that 63% of the women were able to walk outside their homes and only 11% were not able to walk at all. However, 67% could not transfer from sitting to standing positio...

Functional abilities in aging women with Rett syndrome - the Danish cohort.

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Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

Validating the Rett Syndrome Gross Motor Scale

Functional abilities in aging women with Rett syndrome - the Danish cohort.