There has been a growth in students with dyslexia attending university. These students commonly rate writing as one of their greatest problem areas. Our research set out to describe the effects of dyslexia on the writing skills of students compared to age-matched peers and a spelling-skill-matched group. Generally, the texts of the students with dyslexia were poorer than age controls but not poorer than the spelling-skill controls. However, there were no major differences in "higher order" skills such as ideas and organization with the chronological age controls, only in "lower order" transcription skills such as spelling and handwriting fluency. The students with dyslexia made more spelling errors in their essays than one would predict given their dictated spelling skills.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis. Previous functional imaging studies of fragile X syndrome have typically focused on those with fragile X syndrome compared to either neurotypical or autism spectrum disorder control groups. Further, the majority of previous studies have tended to focus on those who are more intellectually able than is typical for fragile X syndrome. In this study, we examine the impact of autistic traits in individuals with fragile X syndrome on a paradigm looking at facial emotion processing. The study included 17 individuals with fragile X syndrome, of whom 10 met criteria for autism as measured by the Autism Diagnostic Observation Schedule (ADOS). Prior to the scan, participants rehearsed on a mock scanner to help acclimatize to the scanner environment and thus allow more severely affected individuals to participate. The task examined the blood-oxygen-level-dependent (BOLD) response to fearful and neutral faces taken from the Ekman faces series. Individuals in the autism group had a region of significantly reduced activity centered on the left superior temporal gyrus, compared to those with FXS alone, in response to the fearful faces. We suggest that autism in individuals with fragile X syndrome is associated with similar changes in the neurobiology of facial emotion processing as seen in idiopathic autism.

Background Recently, there has been an increasing number of trials of medications for fragile X syndrome (FXS). In order to be adequately powered, trials have involved many centres around the world with relatively small numbers of participants recruited at each site. This study aims to understand the barriers to, and how best to facilitate participation in, medication trials in order to improve recruitment and the experience of participants with FXS. Methods A mixed methods design was used to collect both quantitative and qualitative data. Participants were invited to participate through the UK Fragile X Society, a local mailing list and through social media. Those who agreed to participate completed a quantitative questionnaire and indicated whether they would be willing to participate in a follow-up focus group. Results The questionnaire was completed by 328 individuals who either had FXS, or were a parent, carer or family member of an individual with FXS. Over two-thirds of participants reported concern about side effects, while over one-third mentioned swallowing tablets, blood tests, financial aspects and travel as barriers to participation. Focus groups with 12 individuals highlighted themes of trial challenges, strategies to overcome these and motivating factors to participate. Conclusions Many of the factors, which potentially negatively influence participation in a clinical trial for FXS, could be mitigated in relatively simple ways. Easily accessible information, particularly about safety issues, the research team and the trial environment should be standard practice. Desensitisation programmes for blood testing, provision of different preparations of medication (e.g. liquid) and use of a combination of local, remote and site visits to reduce travel and time should also be considered.

Female FMR1 premutation carriers (PMC) have been suggested to be at greater risk of ill health, in particular endocrine dysfunction, compared to the general population. We set out to review the literature relating to endocrine dysfunction, including premature ovarian insufficiency (POI), in female PMCs, and then to consider whether endocrine dysfunction in itself may be predictive of other illnesses in female PMCs. A systematic review and pilot data from a semi-structured health questionnaire were used. Medline, Embase, and PsycInfo were searched for papers concerning PMCs and endocrine dysfunction. For the pilot study, self-reported diagnoses in females were compared between PMCs with endocrine dysfunction (n = 18), PMCs without endocrine dysfunction (n = 14), and individuals without the premutation (n = 15). Twenty-nine papers were identified in the review; the majority concerned POI and reduced fertility, which are consistently found to be more common in PMCs than controls. There was some evidence that thyroid dysfunction may occur more frequently in subgroups of PMCs and that those with endocrine difficulties have poorer health than those without. In the pilot study, PMCs with endocrine problems reported higher levels of fibromyalgia (p = 0.03), tremor (p = 0.03), headache (p = 0.01) and obsessive–compulsive disorder (p = 0.009) than either comparison group. Further larger scale research is warranted to determine whether female PMCs are at risk of endocrine disorders other than those associated with reproduction and whether endocrine dysfunction identifies a high-risk group for the presence of other health conditions.

BackgroundFamily history studies suggest that heritability of ischaemic stroke is greater in females than males, with an excess of affected female relatives of female stroke patients. We hypothesised that these findings might be explained by gender differences in accuracy of reporting of family history of disease.Methods(1) Systematic review of published studies comparing accuracy of reporting of family history of disease by gender. (2) Analysis of data from the Generation Scotland Scottish Family Health Study (SFHS), which collected data from 20 000 participants in Scottish families on participants' and their relatives' disease histories, to assess gender differences in offspring-reported parental history of disease, using self-report as the reference standard.ResultsOur systematic review identified 33 relevant studies: 31 compared accuracy of family history reports by female vs male informants; 13 compared accuracy of reports on female vs male relatives of informants. Both the systematic review and SFHS analysis found that females reported family history of disease more accurately than males. The systematic review found no clear trend in accuracy of family history reporting by gender of relative being reported on, whereas the SFHS analysis demonstrated greater accuracy of reporting about maternal than paternal history of disease.ConclusionGender differences in heritability of ischaemic stroke may be an artefact of inaccurate family history information.