Alexander Westphal

Healthcare issues for children on the autism spectrum

Purpose of review We provide a summary of issues relevant to healthcare and health delivery in autism and related disorders, with a focus on work published in the past 5 years. Recent findings Autism has a strong genetic basis as evidenced by the high recurrence rate in families and its associations with Fragile X syndrome and tuberous sclerosis. Early diagnosis of autism is important, given the potential for improvement with intervention. Although its associations have been reported with events such as measles–mumps–rubella immunization, large-scale studies have not supported such links. Controlled drug trials have increased in frequency and drug treatment may be helpful in addressing frequently associated behavioural and emotional difficulties. Alternative treatments are frequently preferred by parents. Summary Knowledge of autism among healthcare professionals has increased but gaps remain. Physicians and other professionals can facilitate the delivery of healthcare services to individuals with autism. Awareness of empirically validated treatments will facilitate work with individuals with autism and related disorders as well as with their families.

Alcohol, Drugs, and Violence: A Meta-Meta-Analysis.

Objective: The aim of this project was to provide a comprehensive overview and quantitative synthesis of the links between alcohol, drugs, and violence with established meta-meta-analysis methodology. Gender, psychotic illness (present vs. absent), role (perpetrator vs. victim), substance (alcohol, drugs, or both), operationalizations of violence (e.g., laboratory observed violence, community reported violence, homicide records, etc.), and study design (experimental, case-control, cross-sectional, and longitudinal) were evaluated as potential moderators. Method and Results: An extensive literature search resulted in 32 meta-analyses that met our inclusion criteria (i.e., quantitatively synthesized research assessing the link between alcohol or illicit drug use and violence perpetration/victimization) demonstrated a significant relationship between substance use and violence (grand weighted mean effect size of d = 0.45, 95% CI [0.36, 0.54], p < .001). Male gender, psychotic illness, experimental study design, and combined alcohol and illicit drug use increased the associations between substance use and violence. More important, the degree of association was similar across the types of violence assessed and roles (victim/perpetrator). Conclusions: The current study shows that with respect to alcohol, illicit drugs, and violence, the overall relationship is a medium effect size that is robust across different populations, substances, types of violence, and both perpetration and victimization.

Public Perception, Autism, and the Importance of Violence Subtypes

he relationship between violence and autism spectrum disorder (ASD) is an important and poorly T understood topic. Heeramun et al. used a large population-based cohort to examine the base rates of conviction for violent crime among those with ASD in a Swedish sample. Heeramun et al.’s article is a rare and welcome example of one containing primary data about a topic on which publications are mostly case reports, papers that pool case reports, and reviews of those papers. In their abstract and also in the introduction to their article, Heeramun et al. mention cases that have received extensive media coverage, and the authors express concern that the coverage may have perpetuated negative stereotypes about individuals with ASD. Heeramun et al. discuss the vexed topic of sensationalized cases to place their own work in context, and to emphasize the importance of understanding the relationship between violence and ASD. Their concern about negative stereotypes is this. The type of premeditated violence that has led to sensationalistic news stories is very rare, but it has been used to make sweeping generalizations about individuals with ASD. Premeditated violence has also been referred to as predatory, instrumental, or proactive violence. It is also the type of violence associated with several mass shootings that have been linked to ASD. Impulsive aggression, however, often against caregivers and family members, is a much more common problem, particularly in the individuals with ASD and comorbid intellectual disability, a group that forms the majority of the population with ASD. Impulsive aggression has also been referred to as affective, reactive, or hostile, and is one of the most frequent therapeutic concerns for mental health professionals treating people with ASD. Bimodal classification schemes of violence that pair some version of these two categories (e.g., premeditated vs. impulsive, or affective vs. predatory) have played a central role in how violence has been understood over the last 50 years. Affective and predatory violence, for example, are distinguished on the basis of the perpetrators’ co-occurring physiological states, whereas reactive and instrumental violence are distinguished on the basis of the goal of the action. The distinction between the

Violence Risk Assessment

Violence risk assessment is a task central to the general practice of psychiatry. A number of approaches to risk assessment exist, including some based on pure clinical assessment, others based on historical risk factors, and those which combine these approaches. There are a variety of instruments designed to help with this task. Many risk factors for violence have been identified. The single strongest predictor for violence is psychopathy. No matter the experience of the provider or the quality of the instrument, however, the risk of violence cannot be predicted with enough accuracy to justify any single approach. On the other hand, a thorough consideration of the risk factors in any psychiatric interview can reduce risk.

Neurogenetic analysis of childhood disintegrative disorder

BackgroundChildhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences.MethodsWe pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals. We performed whole-exome sequencing (WES), copy number variant (CNV), and gene expression analyses of CDD and, on subsets of each cohort, non-sedated functional magnetic resonance imaging (fMRI) while viewing socioemotional (faces) and non-socioemotional (houses) stimuli and eye tracking while viewing emotional faces.ResultsWe observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as TRRAP, ZNF236, and KIAA2018, play a role or may be involved in transcription. Using the human BrainSpan transcriptome dataset, CDD candidate genes were found to be more highly expressed in non-neocortical regions than neocortical regions. This expression profile was similar to that of an independent cohort of ASD probands with regression. The non-neocortical regions overlapped with those identified by fMRI as abnormally hyperactive in response to viewing faces, such as the thalamus, cerebellum, caudate, and hippocampus. Eye-tracking analysis showed that, among individuals with ASD, subjects with CDD focused on eyes the most when shown pictures of faces.ConclusionsGiven that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level.

Shifting Diagnostic Systems for Defining Intellectual Disability in Death Penalty Cases: Hall vs. Florida

AbstractThe case of Hall vs. Florida tested Florida’s so called “bright line rule” in determining intellectual disability in capital cases. The Supreme Court Decision reflects a more general trend from categorical to dimensional approaches in psychiatric diagnostic systems.