Molecular Validation of the Schizophrenia Spectrum

Background: Early descriptive work and controlled family and adoption studies support the hypothesis that a range of personality and nonschizophrenic psychotic disorders aggregate in families of schizophrenic probands. Can we validate, using molecular polygene scores from genome-wide association studies (GWAS), this schizophrenia spectrum? Methods: The predictive value of polygenic findings reported by the Psychiatric GWAS Consortium (PGC) was applied to 4 groups of relatives from the Irish Study of High-Density Schizophrenia Families (ISHDSF; N = s) differing on their assignment within the schizophrenia spectrum. Genome-wide single nucleotide polymorphism data for affected and unaffected relatives were used to construct per-individual polygene risk scores based on the PGC stage-I results. We compared mean polygene scores in the ISHDSF with mean scores in ethnically matched population controls (N = 929). Results: The schizophrenia polygene score differed significantly across diagnostic categories and was highest in those with narrow schizophrenia spectrum, lowest in those with no psychiatric illness, and in-between in those classified in the intermediate, broad, and very broad schizophrenia spectrum. Relatives of all of these groups of affected subjects, including those with no diagnosis, had schizophrenia polygene scores significantly higher than the control sample. Conclusions: In the relatives of high-density families, the observed pattern of enrichment of molecular indices of schizophrenia risk suggests an underlying, continuous liability distribution and validates, using aggregate common risk alleles, a genetic basis for the schizophrenia spectrum disorders. In addition, as predicted by genetic theory, nonpsychotic members of multiply-affected schizophrenia families are significantly enriched for replicated, polygenic risk variants compared with the general population.

The Millennium child with autism: Early childhood trajectories for health, education and economic wellbeing

Objective: Most of what we know about children with autism spectrum disorder (ASD) is based on post-diagnostic, retrospective, self-select studies. Oftentimes, there is no direct comparison between trajectories of children with ASD and children without ASD.

Methods: To circumvent both of these problems, the present secondary data analysis utilised a large-scale longitudinal general population survey of children born in the year 2000 (i.e. the Millennium Cohort Study; MCS; n=18522). Bi-annual MCS data were available from five data sweeps (children aged 9 months to 11 years of age).

Results: Pre-diagnostic data showed early health problems differentiated children later diagnosed with autism from non-diagnosed peers. Prevalence was much higher than previously estimated (3.5% for 11-year olds). Post-diagnosis, trajectories deteriorated significantly for the children with ASD and their families in relation to education, health and economic wellbeing.

Conclusion: These findings raise many issues for service delivery and the rights of persons with disabilities and their families.

Autism and ABA: Best Practice in America and the Way Forward for Europe.

According to recent estimates, 1 in each 68 new-borns will be diagnosed with an Autism Spectrum Disorder (ASD) in the USA (Centers for Disease Control and Prevention, 2014), while 1 in every 29 children will be diagnosed with ASD in the UK (Dillenburger, Jordan, McKerr, & Keenan, 2015). Individuals diagnosed with ASD share a set of characteristics at varying levels of severity: impairments in social communication skills and presence of restricted interests and repetitive behaviours (American Psychiatric Association, 2013).Notwithstanding these figures, little effort has been placed in European countries’ policies for reaching an early diagnosis. This has a detrimental effect on future prognosis for children with ASD, since research has clearly shown that when evidence-based interventions are accessed early in life, they can lead to great improvements on the overall functioning of children with ASD, including significant gains in social communication and reduction of inappropriate behaviours (Dawson, Rogers, Munson, Smith, Winter, Greenson, Donaldson, & Varley, 2009).Additionally, when looking at the services available for children with ASD and their families in Europe, it seems that not much improvement has been made in the last decades. Traditional eclectic approaches and a wealth of non-scientific methods seem to be available and often recommended by public bodies, while state-funded evidence-based interventions are not offered as part of the education or health system. Given that there is a wealth of evidence on the effectiveness of interventions based on the science of ABA, it seems that specific action is required to correct the situation, respecting children’s right to effective treatment and inclusion.In the present paper, these issues are fully discussed and recommendations for best practice are offered.

Autism in the air: using Point of View Video Priming and Natural Environment Teaching to help children with autism travel by plane

This paper describes a study that used video materials and visits to an airport to prepare children on the autism spectrum for travel by plane. Twenty parents and carers took part in the study with children aged from 3 to 16 years. The authors explain that the methods they used were based on Applied Behaviour Analysis (ABA) research; a video modeling technique called Point-Of-View Video-priming and during visits to an airport they used procedures known as Natural Environment Teaching. The findings suggest that using video and preparing children by taking them through what is likely to happen in the real environment when they travel by plane is effective and the authors suggest these strategies could be used to support children with autism with other experiences they need or would like to engage in such as visits to the dentist or hairdressers and access to leisure centres and other public spaces.

Panning for Gold: The Standardizing Work of Filling “Autistic” Shells – Using institutional ethnography to explore textually mediated health relations in the diagnostic process of autism.

Health reform practices in Canada and elsewhere have restructured the purpose and use of diagnostic labels and the processes of naming such labels. Diagnoses are no longer only a means to tell doctors and patients what may be wrong and indicate potential courses of treatment; some diagnoses activate specialized services and supports for persons with a disability and those who provide care for them. In British Columbia, a standardized process of diagnosis with the outcome of an autism spectrum disorder gives access to government provided health care and educational services and supports. Such processes enter individuals into a complex of text mediated relations, regulated by the principles of evidence-based medicine. However, the diagnosis of autism in children is notoriously uncertain. Because of this ambiguity, standardizing the diagnostic process creates a hurdle in gaining help and support for parents who have children with problems that could lead to a diagnosis on the autism spectrum. Such processes and their organizing relations are problematized, explored and explicated below. Grounded in the epistemological and ontological shift offered by Dorothy E. Smith (1987; 1990a; 1999; 2005), this article reports on the findings of an institutional ethnographic study that explored the diagnostic process of autism in British Columbia. More specifically, this article focuses on the processes involved in going from mothers talking from their experience about their childrens problems to the formalized and standardized, and thus “virtually” produced, diagnoses that may or may not give access to services and supports in different systems of care. Two psychologists, a developmental pediatrician, a social worker – members of a specialized multidisciplinary assessment team – and several mothers of children with a diagnosis on the autism spectrum were interviewed. The implications of standardizing the diagnosis process of a disability that is not clear-cut and has funding attached are discussed. This ethnography also provides a glimpse of the implications of current and ongoing reforms in the state-supported health care system in British Columbia, and more generally in Canada, for people’s everyday doings.

School's out forever: Postsecondary educational trajectories of students with autism

Objective:Postsecondary educational attainment is the key for successful transition to adulthood, economic self-sufficiency, and good mental and physical health.Method:Secondary analyses of school leavers’ data were carried out to establish postsecondary educational trajectories of students on the autism spectrum in the United Kingdom.Results:Findings show that students with autism who had attended mainstream secondary schools enter Further Education (post-16 vocational training) and Higher Education (University) institutions at a similar rate to other students to study the full range ofsubjects on offer. However, they are more likely to be younger, study at a lower academic level, and remain living at home.Conclusion:While course completion data were not yet available, attainment data showed that prospects were improving, although more needs to be done to enable these young adults to a achieving their post secondary educational potential.

Staff training in autism: The one-eyed wo/man….

Having well-trained staff is key to ensuring good quality autism services, especially since people affected with autism generally tend to have higher support needs than other populations in terms of daily living as well as their mental and physical health. Poorly-trained staff can have detrimental effects on service provision and staff morale and can lead to staff burn-out as well as increased service user anxiety and stress. This paper reports on a survey with health, social care, and education staff who work within the statutory autism services sector in the UK that explored their knowledge and training with regards to autism. Interview data obtained from staff and service users offer qualitative illustrations of survey findings. Overall, the findings expose an acute lack of autism specific training that has detrimental impacts. At best this training was based on brief and very basic awareness raising rather than on in-depth understanding of issues related to autism or skills for evidence-based practice. Service users were concerned with the effects that lack of staff training had on the services they received. The paper concludes with a discussion of policy routes to achieving quality staff training based on international best practice. The focus is on improving the quality of life and mental health for services users and staff as well as making potentially significant cost-savings for governments.

Characteristics of change triggered temper outbursts in children with PWS and ASD and how these may impact on the efficacy of behavioural intervention strategies.

Background
Temper outbursts are prevalent in individuals with PWS and are often triggered by unexpected changes to routines or plans. However, such outbursts are also common in individuals with several other neurodevelopmental disorders, including those with a diagnosis of autism spectrum disorder (ASD). We compared the profile of temper outbursts in children with PWS to that in children with ASD. We examined whether differences in the temper outburst profile predicted differences in the outcomes of two caregiver led intervention strategies aiming to reduce change triggered outbursts.
Methods and results
Thirteen 7-15 year olds with PWS – taking part in a larger study involving 60 children evidencing temper outbursts following changes – were individually matched for age to children with ASD (mean ages: 10.70; 10.76 yrs). Caregivers participated in a structured/semi-structured interview on children's outbursts; completed a web-based outburst diary over a 6 month baseline; and are currently using either a change signalling intervention to reliably warn children of forthcoming changes; or a planning ahead intervention to reduce children's exposure to unexpected changes.
As reported at interview, on average, children with PWS showed more frequent temper outbursts than those with ASD (closer to daily vs. weekly). For seven children with PWS and six with ASD, 60% or more of their temper outbursts were reported to be triggered by changes. Whilst outbursts had similar durations when triggered by changes or by other events in children with PWS; change triggered outbursts in children with ASD were generally shorter. The most commonly reported outburst components in children with PWS included indicators of heightened emotional arousal but this was not the case for children with ASD. Data on behavioural change associated with each of the intervention strategies will be discussed.
Conclusions
Change triggered temper outbursts can be a problem for children PWS and ASD, however subtle differences appear to exist in the profile of these outbursts. Some of these differences may be relevant for the expected efficacy of different behavioural intervention strategies that target outbursts.
Summary
Temper outbursts (tantrums) were compared in children with PWS or autism spectrum disorder before and during use of one of two helping strategies. Helping strategies were led by caregivers and aimed to reduce outbursts that follow changes to routines or plans by making such changes more predictable, or by reducing the quantity of changes. Characteristics of outbursts may be important to help us predict which helping strategies may be most effective.

Normal levels of prepulse inhibition in the euthymic phase of bipolar disorder.

BACKGROUND:Deficits in prepulse inhibition (PPI) of the acoustic startle response have been suggested as a potentially useful endophenotype for schizophrenia spectrum disorders and may explain certain symptoms and cognitive deficits observed in the psychoses. PPI deficits have also been found in mania, but it remains to be confirmed whether this dysfunction is present in the euthymic phase of bipolar disorder.METHOD: Twenty-three adult patients with DSM-IV bipolar disorder were compared to 20 controls on tests of acoustic startle reactivity and PPI of the startle response. Sociodemographic and treatment variables were recorded and symptom scores assessed using the Hamilton Depression Inventory and the Young Mania Rating Scale.RESULTS:Overall, the patient and control groups demonstrated similar levels of startle reactivity and PPI, although there was a trend for the inter-stimulus interval to differentially affect levels of PPI in the two groups.CONCLUSIONS: In contrast to bipolar patients experiencing a manic episode, general levels of PPI were normal in this euthymic sample. Further studies are required to confirm this finding and to determine the mechanisms by which this potential disruption/normalization occurs. It is suggested that an examination of PPI in a high-risk group is required to fully discount dysfunctional PPI as a potentially useful endophenotype for bipolar disorder.

When all you have is a hammer ...: RCTs and hegemony in science

People diagnosed with autism spectrum disorder (ASD) deserve the same respect as any other person and should be free to benefit from scientific research that can help them achieve skills which enable them to reach their full potential. Over the past 40 years Applied Behaviour Analysis (ABA) has utilised inductive, natural science methods to investigate techniques for the analysis and augmentation of socially significant behaviours. Unfortunately, many individuals with ASD in the UK cannot avail of these techniques because of an obdurate reliance on randomised controlled trials (RCTs) as the single most respectable measure of effectiveness of interventions. In this paper we focus on how the debate about RCTs is played out in the ‘autism wars’.

Fetal brain function in response to maternal alcohol consumption: Early evidence of damage

Background: Studies of the adverse neurobehavioral effects of maternal alcohol consumption on the fetus have been largely confined to the postnatal period, after exposure to alcohol has finished. This study explored the brain function of the fetus, at the time of exposure to alcohol, to examine its effect on information processing and stability of performance. Methods: Five groups of fetuses, defined by maternal alcohol consumption patterns, were examined: control (no alcohol); moderate (5 to 10 units/wk either drunk evenly across the week or as a binge, in 2 to 3 days); heavy (20+ units/wk drunk evenly or as a binge). Fetal habituation performance was examined on 3 occasions, separated by 7 days, beginning at 35 weeks of gestation. The number of trials required to habituate on each test session and the difference in performance across test sessions were recorded. Results: Fetuses exposed to heavy binge drinking required significantly more trials to habituate and exhibited a greater variability in performance across all test sessions than the other groups. Maternal drinking, either heavily but evenly or moderately as a binge, resulted in poorer habituation, and moderate binge drinking resulted in greater variability compared with no, or even, drinking. Conclusions: Decreased information processing, reflected by poorer habituation, and increased variability in performance may reflect the initial manifestations of structural damage caused by alcohol to the brain. These results will lead to a greater understanding of the effects of alcohol on the fetus's brain, enable the antenatal identification of fetal alcohol spectrum disorders, and lead to the early implementation of better management strategies. © 2012 by the Research Society on Alcoholism.


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Are systemizing and autistic traits related to talent and interest in mathematics and engineering? Testing some of the central claims of the empathizing-systemizing theory.

In two experiments, we tested some of the central claims of the empathizing-systemizing (E-S) theory. Experiment 1 showed that the systemizing quotient (SQ) was unrelated to performance on a mathematics test, although it was correlated with statistics-related attitudes, self-efficacy, and anxiety. In Experiment 2, systemizing skills, and gender differences in these skills, were more strongly related to spatial thinking styles than to SQ. In fact, when we partialled the effect of spatial thinking styles, SQ was no longer related to systemizing skills. Additionally, there was no relationship between the Autism Spectrum Quotient (AQ) and the SQ, or skills and interest in mathematics and mechanical reasoning. We discuss the implications of our findings for the E-S theory, and for understanding the autistic cognitive profile.

Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome

Background

The prevalence, phenomenology aetiology and correlates of four forms of challenging behaviour in 32 children and adults with Smith-Magenis syndrome (SMS) were investigated.

Methods

Cognitive assessments, questionnaires and semi-structured interviews were used to gather data on intellectual disability, verbal and physical aggression, destructive behaviour and self-injury and on characteristics known to be associated with aggression.

Results

Aggression in SMS was more prevalent (87%), but not more severe than aggression in contrast groups. Aggressive behaviour was more frequently associated with environmental contingencies (e.g. attention, escape and access to tangibles) than self-injury and destructive behaviours. Severity of challenging behaviours was associated with high impulsivity.

Conclusion

Aggression is seen in the majority of people with SMS. Results suggest that behavioural disinhibition and operant social reinforcement are associated with the manifestation of aggression.

Assessing the effectiveness of a DRA versus DRA with an activity schedule procedure on the reduction of problem behaviour

Differential Reinforcement of Alternative behaviour (DRA) (Athens & Vollmer, 2010; Cooper, Heron, & Heward, 2007) is a procedure that consists in withholding reinforcement for the targeted inappropriate behaviour while reinforcing behaviours, i.e., that have the same function, but socially more acceptable topographies. DRA has repeatedly proven to be effective in reducing problem behaviours in individuals with autism (Campbell, 2003). On the other hand, a number of single-subject research studies have provided evidence for the use of activity schedules as a means to decrease aggressive behaviour (Dooley et al., 2001; Flannery & Hemer, 1994; Lalli, Casey, Goh, & Merlinoet al., 1994). The purpose of the present study was to evaluate the effectiveness of DRA in combination with the use of an activity schedule. We compared the impact of the visual activities schedule used in combination with a DRA procedure versus the impact of the DRA procedure used alone on problem behaviour of a boy diagnosed with an Autism Spectrum Disorder. An alternating treatments design was used to compare the rate of behaviour problems in each of the two treatment conditions. DRA was delivered as treatment A, while the combination of the activities schedule and DRA was treatment B.