Exploring electrophysiological markers of auditory predictive processes and pathological ageing in adults with Down's syndrome.

Down's syndrome is associated with pathological ageing and a propensity for early-onset Alzheimer's disease. The early symptoms of dementia in people with Down's syndrome may reflect frontal lobe vulnerability to amyloid deposition. Auditory predictive processes rely on the bilateral auditory cortices with the recruitment of frontal cortices and appear to be impaired in pathologies characterized by compromised frontal lobe. Hence, auditory predictive processes were investigated to assess Down's syndrome pathology and its relationship with pathological ageing. An auditory electroencephalography (EEG) global-local paradigm was presented to the participants, in which oddball stimuli could either violate local or higher level global rules. We characterised predictive processes in individuals with Down's syndrome and their relationship with pathological ageing, with a focus on the EEG event-related potential called Mismatch Negativity (MMN) and the P300. In Down's syndrome, we also evaluated the EEG components as predictor of cognitive decline 1 year later. We found that predictive processes of detection of auditory violations are overall preserved in Down's syndrome but also that the amplitude of the MMN to local deviancies decreases with age. However, the 1-year follow-up of Down's syndrome found that none of the ERPs measures predicted subsequent cognitive decline. The present study provides a novel characterization of electrophysiological markers of local and global predictive processes in Down's syndrome.

The effect of ambient sounds on decision-making and heart rate variability in autism.

LAY ABSTRACT: Many autistic people report difficulties making decisions during everyday tasks, such as shopping. To examine the effect of sounds on decision-making, we developed a supermarket task where people watched a film shown from the shopper's perspective and were asked to make decisions between different products. The task was divided into three sections and participants completed each section in a different auditory environment: (1) no sounds, (2) non-social sounds (e.g. fridges humming) and (3) social sounds (e.g. people talking). Thirty-eight autistic and 37 neurotypical adults took part. We measured decision-making by examining how long it took to make a decision and how consistent people were with their decisions. We also measured heart rate variability because this biological response provides a measure of anxiety. After the supermarket shopping task, participants told us in their own words about their experiences. Autistic participants said that they found the non-social and social sound conditions more difficult than the no sound condition, and autistic participants found the social sound condition more negative than neurotypical participants. However, decision-making and heart rate variability were similar for autistic and neurotypical participants across the sound conditions, suggesting that these measures may not have been sensitive enough to reflect the experiences the autistic participants reported. Further research should consider alternative measures to explore the experiences reported by autistic people to help us understand which specific aspects of the environment autistic people are sensitive to. This, in turn, may enable more specific and evidence-based autism-friendly changes to be made.

Long-term cognitive outcome in adult survivors of an early childhood posterior fossa brain tumour.

PURPOSE: Posterior fossa brain tumours (PFT) and their treatment in young children are often associated with subsequent cognitive impairment. However, reported follow-up periods rarely exceed 10 years. This study reports very long-term cognitive consequences of surviving an early childhood PFT. METHODS: 62 adult survivors of a PFT, ascertained from a national register, diagnosed before 5 years of age, and a sibling control, received a single IQ assessment an average of 32 years (range 18-53) after initial diagnosis, using the Weschler Abbreviated Scale of Intelligence. Regression models were fitted to survivor-sibling pair differences on verbal and performance IQ (VIQ and PIQ) scores to investigate whether increasing time between PFT diagnosis and follow-up IQ assessment contributed to survivor-sibling IQ differences. RESULTS: At follow-up, survivors had, on average, VIQ 15 points and PIQ 19 points lower than their siblings. There was no significant effect of time since diagnosis on survivor-sibling VIQ difference. Survivors who received radiotherapy showed no significant effect of time since diagnosis on survivor-sibling PIQ difference. Survivors who did not receive radiotherapy demonstrated a trend for it to reduce. CONCLUSIONS: VIQ and PIQ deficits persist in adulthood, suggesting the effect of a fixed injury imposing on cognitive development, rather than an ongoing pathological process. IMPLICATIONS FOR CANCER SURVIVORS: The findings will help parents and others supporting survivors of an early life PFT to identify and plan for possible cognitive outcomes, and highlight the importance of early interventions to optimize cognitive function during the developmental period.

Transcutaneous vagus nerve stimulation (t-VNS): A novel effective treatment for temper outbursts in adults with Prader-Willi Syndrome indicated by results from a non-blind study.

Temper outbursts are a severe problem for people with Prader-Willi Syndrome (PWS). Previous reports indicate that vagus nerve stimulation (VNS) may reduce maladaptive behaviour in neurodevelopmental disorders, including PWS. We systematically investigated the effectiveness of transcutaneous VNS (t-VNS) in PWS. Using a non-blind single case repeat measures modified ABA design, with participants as their own controls, t-VNS was evaluated in five individuals with PWS [three males; age 22-41 (M = 26.8)]. After a baseline phase, participants received four-hours of t-VNS daily for 12 months, followed by one month of daily t-VNS for two-hours. The primary outcome measure was the mean number of behavioural outbursts per day. Secondary outcomes included findings from behavioural questionnaires and both qualitative and goal attainment interviews. Four of the five participants who completed the study exhibited a statistically significant reduction in number and severity of temper outbursts after approximately nine months of daily four-hour t-VNS. Subsequent two-hour daily t-VNS was associated with increased outbursts for all participants, two reaching significance. Questionnaire and interview data supported these findings, the latter indicating potential mechanisms of action. No serious safety issues were reported. t-VNS is an effective, novel and safe intervention for chronic temper outbursts in PWS. We propose these changes are mediated through vagal projections and their effects both centrally and on the functioning of the parasympathetic nervous system. These findings challenge our present biopsychosocial understanding of such behaviours suggesting that there is a single major mechanism that is modifiable using t-VNS. This intervention is potentially generalizable across other clinical groups. Future research should address the lack of a sham condition in this study along with the prevalence of high drop out rates, and the potential effects of different stimulation intensities, frequencies and pulse widths.

Neuromodulation of autism spectrum disorders using vagal nerve stimulation.

Influential theories propose an important role for the autonomic nervous system in social behaviour and emotion regulation. Difficulties with these capabilities occur in autism spectrum disorders (ASD). Vagus nerve stimulation (VNS) is a neuromodulation technique that stimulates autonomic pathways by means of an electrode implanted around the left vagus nerve in the neck. It is a licenced treatment for epilepsy and depression. This study searches the literature for evidence of VNS effects on behaviour in ASD. A literature search was conducted by two independent reviewers using Embase, Medline, PsycInfo and Cochrane using relevant search terms following the principals of the PRISMA guidance. The search strategy utilised a combination of text words and thesaurus terms to retrieve records relating to autism/pervasive developmental disorder and vagus nerve stimulation. No limits were applied. Supplementary searches were carried out on trials registers, and using backwards and forwards citation searching. A predesigned inclusion and exclusion criteria was administered to the identified results. From the 242 results identified search strategy 11 were found to satisfy the full search criteria and used to discuss the hypothesis. Eight studies were case series and three case reports. There is some evidence that VNS, when performed for epilepsy, may improve behaviour in people with ASD. There are indications that this occurs independently of its effects on seizure frequency and mood, although more rigorous studies are required.

How can transition to adult care be best orchestrated for adolescents with epilepsy?

Objective evidence is limited for the value of transition programs for youth with chronic illness moving from pediatric to adult care; however, such programs intuitively "make sense". We describe the strengths and weaknesses of a variety of transition programs from around the world for adolescents with epilepsy. Consequences of poorly organized transition beyond suboptimal seizure control may include an increased risk of sudden unexpected death in epilepsy (SUDEP), poor psychological and social outcome, and inadequate management of comorbidities. The content of transition programs for those with normal intelligence differs from those with intellectual disability, but both groups may benefit from an emphasis on sporting activities. Concerns that may interfere with optimal transition include lack of nursing or social work services, limited numbers of adult neurologists/epileptologists confident in the treatment of complex pediatric epilepsy problems, institutional financial support, and time constraints for pediatric and adult physicians who treat epilepsy and the provision of multidisciplinary care. Successful programs eventually need to rely on a several adult physicians, nurses, and other key healthcare providers and use novel approaches to complex care. More research is needed to document the value and effectiveness of transition programs for youth with epilepsy to persuade institutions and healthcare professionals to support these ventures.

Training nurses in a competency framework to support adults with epilepsy and intellectual disability: the EpAID cluster RCT.

BACKGROUND: People with an intellectual (learning) disability (ID) and epilepsy have an increased seizure frequency, higher frequencies of multiple antiepileptic drug (AED) use and side effects, higher treatment costs, higher mortality rates and more behavioural problems than the rest of the population with epilepsy. The introduction of nurse-led care may lead to improvements in outcome for those with an ID and epilepsy; however, this has not been tested in a definitive clinical trial. OBJECTIVE: To determine whether or not ID nurses, using a competency framework developed to optimise nurse management of epilepsy in people with an ID, can cost-effectively improve clinical and quality-of-life outcomes in the management of epilepsy compared with treatment as usual. DESIGN: Cluster-randomised two-arm trial. SETTING: Community-based secondary care delivered by members of community ID teams. PARTICIPANTS: Participants were adults aged 18-65 years with an ID and epilepsy under the care of a community ID team and had had at least one seizure in the 6 months before the trial. INTERVENTIONS: The experimental intervention was the Learning Disability Epilepsy Specialist Nurse Competency Framework. This provides guidelines describing a structure and goals to support the delivery of epilepsy care and management by ID-trained nurses. MAIN OUTCOME MEASURES: The primary outcome was the seizure severity scale from the Epilepsy and Learning Disabilities Quality of Life questionnaire. Measures of mood, behaviour, AED side effects and carer strain were also collected. A cost-utility analysis was undertaken along with a qualitative examination of carers' views of participants' epilepsy management. RESULTS: In total, 312 individuals were recruited into the study from 17 research clusters. Using an intention-to-treat analysis controlling for baseline individual-level and cluster-level variables there was no significant difference in seizure severity score between the two arms. Altogether, 238 complete cases were included in the non-imputed primary analysis. Analyses of the secondary outcomes revealed no significant differences between arms. A planned subgroup analysis identified a significant interaction between treatment arm and level of ID. There was a suggestion in those with mild to moderate ID that the competency framework may be associated with a small reduction in concerns over seizure severity (standard error 2.005, 95% confidence interval -0.554 to 7.307; p = 0.092). However, neither subgroup showed a significant intervention effect individually. Family members' perceptions of nurses' management depended on the professional status of the nurses, regardless of trial arm. Economic analysis suggested that the competency framework intervention was likely to be cost-effective, primarily because of a reduction in the costs of supporting participants compared with treatment as usual. LIMITATIONS: The intervention could not be delivered blinded. Treatment as usual varied widely between the research sites. CONCLUSIONS: Overall, for adults with an ID and epilepsy, the framework conferred no clinical benefit compared with usual treatment. The economic analysis suggested that there may be a role for the framework in enhancing the cost-effectiveness of support for people with epilepsy and an ID. Future research could explore the specific value of the competency framework for those with a mild to moderate ID and the potential for greater long-term benefits arising from the continuing professional development element of the framework. TRIAL REGISTRATION: Current Controlled Trials ISRCTN96895428. FUNDING: This trial was funded by the NIHR Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 22, No. 10. See the NIHR Journals Library website for further project information.

Understanding self-reported difficulties in decision-making by people with autism spectrum disorders.

Autobiographical accounts and a limited research literature suggest that adults with autism spectrum disorders can experience difficulties with decision-making. We examined whether some of the difficulties they describe correspond to quantifiable differences in decision-making when compared to adults in the general population. The participants (38 intellectually able adults with autism spectrum disorders and 40 neurotypical adults) were assessed on three tasks of decision-making (Iowa Gambling Task, Cambridge Gamble Task and Information Sampling Task), which quantified, respectively, decision-making performance and relative attention to negative and positive outcomes, speed and flexibility, and information sampling. As a caution, all analyses were repeated with a subset of participants ( nASD = 29 and nneurotypical = 39) who were not taking antidepressant or anxiolytic medication. Compared to the neurotypical participants, participants with autism spectrum disorders demonstrated slower decision-making on the Cambridge Gamble Task, and superior performance on the Iowa Gambling Task. When those taking the medications were excluded, participants with autism spectrum disorders also sampled more information. There were no other differences between the groups. These processing tendencies may contribute to the difficulties self-reported in some contexts; however, the results also highlight strengths in autism spectrum disorders, such as a more logical approach to, and care in, decision-making. The findings lead to recommendations for how adults with autism spectrum disorders may be better supported with decision-making.

Clinical services for adults with an intellectual disability and epilepsy: A comparison of management alternatives.

BACKGROUND: Intellectual disability (ID) is relatively common in people with epilepsy, with prevalence estimated to be around 25%. Surprisingly, given this relatively high frequency, along with higher rates of refractory epilepsy than in those without ID, little is known about outcomes of different management approaches/clinical services treating epilepsy in adults with ID-we investigate this area. MATERIALS & METHODS: We undertook a naturalistic observational cohort study measuring outcomes in n = 91 adults with ID over a 7-month period (recruited within the period March 2008 to April 2010). Participants were receiving treatment for refractory epilepsy (primarily) in one of two clinical service settings: community ID teams (CIDTs) or hospital Neurology services. RESULTS: The pattern of comorbidities appeared important in predicting clinical service, with Neurologists managing the epilepsy of relatively more of those with neurological comorbidities whilst CIDTs managed the epilepsy of relatively more of those with psychiatric comorbidities. Epilepsy-related outcomes, as measured by the Glasgow Epilepsy Outcome Scale 35 (GEOS-35) and the Epilepsy and Learning Disabilities Quality of Life Scale (ELDQoL) did not differ significantly between Neurology services and CIDTs. DISCUSSION: In the context of this study, the absence of evidence for differences in epilepsy-related outcomes amongst adults with ID and refractory epilepsy between mainstream neurology and specialist ID clinical services is considered. Determining the selection of the service managing the epilepsy of adults with an ID on the basis of the skill sets also required to treat associated comorbidities may hence be a reasonable heuristic.

Computerized Cognitive Behavioral Therapy to Treat Emotional Distress After Stroke: A Feasibility Randomized Controlled Trial.

BACKGROUND: Depression and anxiety are common complications following stroke. Symptoms could be treatable with psychological therapy, but there is little research on its efficacy. OBJECTIVES: The aim of this study was to investigate (1) the acceptability and feasibility of computerized cognitive behavioral therapy (cCBT) to treat symptoms of depression and anxiety and (2) a trial design for comparing the efficacy of cCBT compared with an active comparator. METHODS: Of the total 134 people screened for symptoms of depression and anxiety following stroke, 28 were cluster randomized in blocks with an allocation ratio 2:1 to cCBT (n=19) or an active comparator of computerized cognitive remediation therapy (cCRT, n=9). Qualitative and quantitative feedback was sought on the acceptability and feasibility of both interventions, alongside measuring levels of depression, anxiety, and activities of daily living before, immediately after, and 3 months post treatment. RESULTS: Both cCBT and cCRT groups were rated as near equally useful (mean = 6.4 vs 6.5, d=0.05), while cCBT was somewhat less relevant (mean = 5.5 vs 6.5, d=0.45) but somewhat easier to use (mean = 7.0 vs 6.3, d=0.31). Participants tolerated randomization and dropout rates were comparable with similar trials, with only 3 participants discontinuing due to potential adverse effects; however, dropout was higher from the cCBT arm (7/19, 37% vs 1/9, 11% for cCRT). The trial design required small alterations and highlighted that future-related studies should control for participants receiving antidepressant medication, which significantly differed between groups (P=.05). Descriptive statistics of the proposed outcome measures and qualitative feedback about the cCBT intervention are reported. CONCLUSIONS: A pragmatic approach is required to deliver computerized interventions to accommodate individual needs. We report a preliminary investigation to inform the development of a full randomized controlled trial for testing the efficacy of computerized interventions for people with long-term neurological conditions such as stroke and conclude that this is a potentially promising way of improving accessibility of psychological support.

The Dysexecutive Questionnaire Revised (DEX-R): An extended measure of everyday dysexecutive problems after acquired brain injury.

The Dysexecutive Questionnaire (DEX) is a tool for measuring everyday problems experienced with the dysexecutive syndrome. This study investigated the psychometric properties of a revised version of the measure (DEX-R), a comprehensive tool, grounded in current theoretical conceptualisations of frontal lobe function and dysexecutive problems. The aim was to improve measurement of dysexecutive problems following acquired brain injury (ABI). Responses to the DEX-R were collected from 136 men and women who had experienced an ABI (the majority of whom had experienced a stroke or subarachnoid haemorrhage) and where possible, one of their carers or family members (n = 71), who acted as an informant. Rasch analysis techniques were employed to explore the psychometric properties of four newly developed, theoretically distinct subscales based on Stuss model of frontal lobe function and to evaluate the comparative validity and reliability of self and informant ratings of these four subscales. The newly developed subscales were well targeted to the range of dysexecutive problems reported by the current sample and each displayed a good level of internal validity. Both self- and independent-ratings were found to be performing reliably as outcome measures for at least a group-level. This new version of the tool could help guide selection of interventions for different types of dysexecutive problems and provide accurate measurement in neurorehabilitation services.

The Autism-Spectrum Quotient in Siblings of People With Autism.

This study measures the distribution of autistic traits, using the autism-spectrum quotient (AQ), in siblings of individuals with autism spectrum conditions (ASC). Total AQ scores, along with AQ subscales, were collected from child, adolescent and adult controls, siblings, and volunteers with ASC using one of the three age-appropriate versions of the instrument: the AQ (adult self-report), the AQ-adolescent and AQ-child (both parent-reports). We examined the effect of Group (case, sibling and control) and AQ version (adult, adolescent and adult) on total and subscale scores. In addition, we tested for sex differences in all groups and on all versions. We found that in male and female adults, AQ scores in siblings fell between cases and controls (cases > siblings > controls). In children and adolescents, female siblings also scored higher than control females (female cases > female siblings > female controls), but there was no difference between male siblings and controls (male cases > male siblings = male controls). An investigation of subscale scores revealed that male siblings only differed from controls on the "Communication" subscale (male cases > male siblings > male controls), while female siblings differed from controls on all subscales except "Imagination" (female cases > female siblings > female controls). This study confirms the broader autism phenotype in siblings, and reveals this is modulated by sex and AQ version. Autism Res 2017, 10: 289-297. © 2016 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

"Sometimes, it just stops me from doing anything": A qualitative exploration of epilepsy management in people with intellectual disabilities and their carers.

PURPOSE: Epilepsy affects 1 in 5 people with an intellectual disability (ID), but little is known about their experiences of living with epilepsy. A qualitative study was conducted to investigate the impact and management of epilepsy in people with ID. MATERIALS AND METHODS: People with epilepsy and ID and their carers were invited to take part in semi-structured interviews. Eleven participants with ID and their carers were interviewed together, one participant with ID and their carer were interviewed separately, two interviews took place with the participant with ID only, and one interview took place with the carer only. The interviews were transcribed verbatim, coded, and analyzed thematically (dual independent coding for 30% of the transcripts). RESULTS: Three themes emerged (participant characteristics, living with epilepsy, epilepsy management and information needs) which indicated the following: 1) diversity regarding health profiles, communication abilities, severity of epilepsy, perceived control of epilepsy, and support needs; 2) a reduction in severity and frequency of seizures for a sizeable proportion of participants through antiepileptic drugs; 3) the lifelong impact of epilepsy and related seizures on participants' activities and quality of life; 4) the perceived burden of epilepsy and difficulty managing the condition for a large proportion of participants; 5) high levels of satisfaction with epilepsy-related services and care; and 6) an overall lack of written accessible information about epilepsy. CONCLUSIONS: This study has highlighted a significant impact of epilepsy and related seizures on the daily lives and quality of life of people with ID. Although a sizeable proportion of participants and their carers considered their epilepsy to be well controlled, the majority reported difficulties managing epilepsy and minimizing its impact on their wellbeing. Excluding care staff and the support provided by epilepsy clinics, the participants had not accessed any adapted self-management or information resources about epilepsy.

Towards onset prevention of cognition decline in adults with Down syndrome (The TOP-COG study): A pilot randomised controlled trial.

BACKGROUND: Dementia is very common in Down syndrome (trisomy 21) adults. Statins may slow brain amyloid ß (Aß, coded on chromosome 21) deposition and, therefore, delay Alzheimer disease onset. One prospective cohort study with Down syndrome adults found participants on statins had reduced risk of incident dementia, but there are no randomised controlled trials (RCTs) on this issue. Evidence is sparse on the best instruments to detect longitudinal cognitive decline in older Down syndrome adults. METHODS: TOP-COG was a feasibility/pilot, double-blind RCT of 12 months simvastatin 40 mg versus placebo for the primary prevention of dementia in Alzheimer disease in Down syndrome adults aged 50 years or older. Group allocation was stratified by age, apolipoprotein E (APOE) ε4 allele status, and cholesterol level. Recruitment was from multiple general community sources over 12 months. Adults with dementia, or simvastatin contraindications, were excluded. Main outcomes were recruitment and retention rates. Cognitive decline was measured with a battery of tests; secondary measures were adaptive behaviour skills, general health, and quality of life. Assessments were conducted pre randomisation and at 12 months post randomisation. Blood Aß40/Aß42 levels were investigated as a putative biomarker. Results were analysed on an intention-to-treat basis. A qualitative sub-study was conducted and analysed using the Framework Approach to determine recruitment motivators/barriers, and participation experience. RESULTS: We identified 181 (78 %) of the likely eligible Down syndrome population, and recruited 21 (11.6 %), from an area with a general population size of 3,135,974. Recruitment was highly labour-intensive. Thirteen (62 %) participants completed the full year. Results favoured the simvastatin group. The most appropriate cognitive instrument (regarding ease of completion and detecting change over time) was the Memory for Objects test from the Neuropsychological Assessment of Dementia in Individuals with Intellectual Disabilities battery. Cognitive testing appeared more sensitive than proxy-rated adaptive behaviour, quality of life, or general health scores. Aß40 levels changed less for the simvastatin group (not statistically significant). People mostly declined to participate because of not wanting to take medication, and not knowing if they would receive simvastatin or placebo. Participants reported enjoying taking part. CONCLUSION: A full-scale RCT is feasible. It will need 37 % UK population coverage to recruit the required 160 participants. Information/education about the importance of RCT participation is needed for this population. TRIAL REGISTRATION: ISRCTN67338640 .

Improving outcomes in adults with epilepsy and intellectual disability (EpAID) using a nurse-led intervention: study protocol for a cluster randomised controlled trial.

BACKGROUND: In adults with intellectual disability (ID) and epilepsy there are suggestions that improvements in management may follow introduction of epilepsy nurse-led care. However, this has not been tested in a definitive clinical trial and results cannot be generalised from general population studies as epilepsy tends to be more severe and to involve additional clinical comorbidities in adults with ID. This trial investigates whether nurses with expertise in epilepsy and ID, working proactively to a clinically defined role, can improve clinical and quality of life outcomes in the management of epilepsy within this population, compared to treatment as usual. The trial also aims to establish whether any perceived benefits represent good value for money. METHODS/DESIGN: The EpAID clinical trial is a two-arm cluster randomised controlled trial of nurse-led epilepsy management versus treatment as usual. This trial aims to obtain follow-up data from 320 participants with ID and drug-resistant epilepsy. Participants are randomly assigned either to a 'treatment as usual' control or a 'defined epilepsy nurse role' active arm, according to the cluster site at which they are treated. The active intervention utilises the recently developed Learning Disability Epilepsy Specialist Nurse Competency Framework for adults with ID. Participants undergo 4 weeks of baseline data collection, followed by a minimum of 20 weeks intervention (novel treatment or treatment as usual), followed by 4 weeks of follow-up data collection. The primary outcome is seizure severity, including associated injuries and the level of distress manifest by the patient in the preceding 4 weeks. Secondary outcomes include cost-utility analysis, carer strain, seizure frequency and side effects. Descriptive measures include demographic and clinical descriptors of participants and clinical services in which they receive their epilepsy management. Qualitative study of clinical interactions and semi-structured interviews with clinicians and participants' carers are also undertaken. DISCUSSION: The EpAID clinical trial is the first cluster randomised controlled trial to test possible benefits of a nurse-led intervention in adults with epilepsy and ID. This research will have important implications for ID and epilepsy services. The challenges of undertaking such a trial in this population, and the approaches to meeting these are discussed. TRIAL REGISTRATION: International Standard Randomised Controlled Trial Number: ISRCTN96895428 version 1.1. Registered on 26 March 2013.

Wordless intervention for people with epilepsy and learning disabilities (WIELD): a randomised controlled feasibility trial.

OBJECTIVE: To investigate the feasibility of a full-scale randomised controlled trial of a picture booklet to improve quality of life for people with epilepsy and learning disabilities. TRIAL DESIGN: A randomised controlled feasibility trial. Randomisation was not blinded and was conducted using a centralised secure database and a blocked 1:1 allocation ratio. SETTING: Epilepsy clinics in 1 English National Health Service (NHS) Trust. PARTICIPANTS: Patients with learning disabilities and epilepsy who had: a seizure within the past 12 months, meaningful communication and a carer with sufficient proficiency in English. INTERVENTION: Participants in the intervention group used a picture booklet with a trained researcher, and a carer present. These participants kept the booklet, and were asked to use it at least twice more over 20 weeks. The control group received treatment as usual, and were provided with a booklet at the end of the study. OUTCOME MEASURES: 7 feasibility criteria were used relating to recruitment, data collection, attrition, potential effect on epilepsy-related quality of life (Epilepsy and Learning Disabilities Quality of Life Scale, ELDQOL) at 4-week, 12-week and 20-week follow-ups, feasibility of methodology, acceptability of the intervention and potential to calculate cost-effectiveness. OUTCOME: The recruitment rate of eligible patients was 34% and the target of 40 participants was reached. There was minimal missing data and attrition. An intention-to-treat analysis was performed; data from the outcome measures suggest a benefit from the intervention on the ELDQOL behaviour and mood subscales at 4 and 20 weeks follow-up. The booklet and study methods were positively received, and no adverse events were reported. There was a positive indication of the potential for a cost-effectiveness analysis. CONCLUSIONS: All feasibility criteria were fully or partially met, therefore confirming feasibility of a definitive trial. TRIAL REGISTRATION NUMBER: ISRCTN80067039.

Subgrouping siblings of people with autism: Identifying the broader autism phenotype.

We investigate the broader autism phenotype (BAP) in siblings of individuals with autism spectrum conditions (ASC). Autistic traits were measured in typical controls (n = 2,000), siblings (n = 496), and volunteers with ASC (n = 2,322) using the Autism-Spectrum Quotient (AQ), both self-report and parent-report versions. Using cluster analysis of AQ subscale scores, two sibling subgroups were identified for both males and females: a cluster of low-scorers and a cluster of high-scorers. Results show that while siblings as a group have intermediate levels of autistic traits compared to control individuals and participants with ASC, when examined on a cluster level, the low-scoring sibling group is more similar to typical controls while the high-scoring group is more similar to the ASC clinical group. Further investigation into the underlying genetic and epigenetic characteristics of these two subgroups will be informative in understanding autistic traits, both within the general population and in relation to those with a clinical diagnosis. Autism Res 2016, 9: 658-665. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

Sex and STEM Occupation Predict Autism-Spectrum Quotient (AQ) Scores in Half a Million People.

This study assesses Autism-Spectrum Quotient (AQ) scores in a 'big data' sample collected through the UK Channel 4 television website, following the broadcasting of a medical education program. We examine correlations between the AQ and age, sex, occupation, and UK geographic region in 450,394 individuals. We predicted that age and geography would not be correlated with AQ, whilst sex and occupation would have a correlation. Mean AQ for the total sample score was m = 19.83 (SD = 8.71), slightly higher than a previous systematic review of 6,900 individuals in a non-clinical sample (mean of means = 16.94) This likely reflects that this big-data sample includes individuals with autism who in the systematic review score much higher (mean of means = 35.19). As predicted, sex and occupation differences were observed: on average, males (m = 21.55, SD = 8.82) scored higher than females (m = 18.95; SD = 8.52), and individuals working in a STEM career (m = 21.92, SD = 8.92) scored higher than individuals non-STEM careers (m = 18.92, SD = 8.48). Also as predicted, age and geographic region were not meaningfully correlated with AQ. These results support previous findings relating to sex and STEM careers in the largest set of individuals for which AQ scores have been reported and suggest the AQ is a useful self-report measure of autistic traits.

Autistic characteristics in adults with epilepsy and perceived seizure activity.

UNLABELLED: The prevalence of autism spectrum disorders in epilepsy is approximately 15%-47%, with previous research by Wakeford and colleagues reporting higher autistic traits in adults with epilepsy. The aim of this study was to investigate autistic characteristics and their relationship to having seizures by employing two behavioral assessments in two samples: adults with epilepsy and controls. METHOD: The study employed the Social Responsiveness Scale - Shortened (SRS-S) (patients with epilepsy (n=76), control (n=19)) and the brief Repetitive Behavior Scale - Revised (RBS-R) (patients with epilepsy (n=47), control (n=21)). This study employed a unique method to quantify the extent to which autistic characteristics are related to perceived mild seizure activity. Adults with epilepsy were instructed to rate their usual behavior on each assessment and, at the same time, rate their behavior again when they perceived that they were having mild seizure activity. RESULTS: Significantly higher SRS-S scores were related to having a diagnosis of epilepsy and were perceived by adults with epilepsy to increase during mild seizure activity. These scores positively correlated with antiepileptic drug control. No difference was found for RBS-R scores in adults with epilepsy compared with controls. CONCLUSION: Together, these results suggest that adults with epilepsy have higher autistic characteristics measured by the social responsiveness scale, while sameness behaviors remain unimpaired. The autistic characteristics measured by the social responsiveness scale were reported by adults with epilepsy to be more severe during their mild seizure activity.