1. Agelink van Rentergem JA, Lever AG, Geurts HM. {{Negatively phrased items of the Autism Spectrum Quotient function differently for groups with and without autism}}. {Autism};2019 (Feb 28):1362361319828361.
The Autism Spectrum Quotient is a widely used instrument for the detection of autistic traits. However, the validity of comparisons of Autism Spectrum Quotient scores between groups may be threatened by differential item functioning. Differential item functioning entails a bias in items, where participants with equal values of the latent trait give different answers because of their group membership. In this article, items of the Autism Spectrum Quotient were studied for differential item functioning between different groups within a single sample ( N = 408). Three analyses were conducted. First, using a Rasch mixture model, two latent groups were detected that show differential item functioning. Second, using a Rasch regression tree model, four groups were found that show differential item functioning: men without autism, women without autism, people 50 years and younger with autism, and people older than 50 years with autism. Third, using traditional methods, differential item functioning was detected between groups with and without autism. Therefore, group comparisons with the Autism Spectrum Quotient are at risk of being affected by bias. Eight items emerged that consistently show differences in response tendencies between groups across analyses, and these items were generally negatively phrased. Two often-used short forms of the Autism Spectrum Quotient, the AQ-28 and AQ-10, may be more suitable for group comparisons.
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2. Burket JA, Deutsch SI. {{Metabotropic functions of the NMDA receptor and an evolving rationale for exploring NR2A-selective positive allosteric modulators for the treatment of autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry};2019 (Mar 2);90:142-160.
NMDA receptors are widely distributed throughout the brain and major therapeutic challenges include targeting specific NMDA receptor subtypes while preserving spatial and temporal specificity during their activation. The NR2A-subunit containing NMDA receptor is implicated in regulating synchronous oscillatory output of cortical pyramidal neurons, which may be disturbed in clinical presentations of autism spectrum disorder (ASD). Because NR2A-selective positive allosteric modulators (PAMs) preserve spatial and temporal selectivity while activating this subpopulation of receptors, they represent a promising strategy to address neocortical circuit abnormalities in ASD. In addition to promoting Ca(2+) entry and membrane depolarization, diverse metabotropic effects of NMDA receptor activation on signal transduction pathways occur within the cell, some of which depend on alignment of protein binding partners. For example, NMDA receptor agonist interventions attenuate impaired sociability in transgenic mice with ‘loss-of-function’ mutations of the Shank family of scaffolding proteins, which highlights the necessity of a carefully orchestrated alignment of protein binding partners in the excitatory synapse. The current Review considers metabotropic functions of the NMDA receptor that could play a role in sociability and the pathogenesis of ASD (e.g., mTOR signaling), in addition to its more familiar ionotropic functions, and provides a rationale for therapeutic exploration of NR2A-selective PAMs.
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3. Cribb S, Kenny L, Pellicano E. {{‘I definitely feel more in control of my life’: The perspectives of young autistic people and their parents on emerging adulthood}}. {Autism};2019 (Feb 28):1362361319830029.
Long-term outcomes studies often paint a discouraging picture of the lives lived by autistic adults. Yet, their outcomes are often measured against normative markers of traditional adult roles, which may not apply to autistic people making the transition to adulthood. Here, we investigated the transition experiences of a group of young autistic people who were followed from childhood. Twenty-six young people and their parents ( n = 28) participated in semistructured interviews on the process of transition and their aspirations for the future. Parents often voiced serious concerns about the ongoing support their children would require and the severe lack of services designed to support them as adults. Yet, overall, young people reported feeling more in control of their own lives, including developing a sense of identity and personal autonomy, both of which may be rooted in young autistic people’s executive skills and their ability to develop and maintain trusting relationships with others – two potential candidate areas for targeted support. These results call into question whether the traditional standards to which we often hold young autistic people are developmentally appropriate and suggest that the pressures of striving towards more normative ways of engaging in the world may be detrimental to their well-being.
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4. Garcia-Ortiz JE, Zarazua-Nino AI, Hernandez-Orozco AA, Reyes-Oliva EA, Perez-Avila CE, Becerra-Solano LE, Galan-Huerta KA, Rivas-Estilla AM, Cordova-Fletes C. {{Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Mar 2)
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5. Germone MM, Gabriels RL, Guerin NA, Pan Z, Banks T, O’Haire ME. {{Animal-assisted activity improves social behaviors in psychiatrically hospitalized youth with autism}}. {Autism};2019 (Feb 28):1362361319827411.
There is preliminary research suggesting that animal-assisted activities can improve social interactions of children with autism spectrum disorder. This pilot study sought to investigate the benefits of animal-assisted activities with dogs and psychiatrically hospitalized youth with autism spectrum disorder. Participants were recruited from a specialized inpatient psychiatric hospital unit for youth with autism spectrum disorder and other developmental disabilities. Utilizing a crossover design, participants served as their own control by engaging in two 10-min conditions: an experimental dog and handler interaction (animal-assisted activities) and a novel toy and handler control (control). Of the 142 youth aged 6–8 years screened for participation, 47 completed both conditions. Participants’ behavioral data were captured via video and coded using the Observation of Human-Animal Interaction for Research, a tool specifically developed to capture human behavioral interactions in the presence of animals. Overall, social-communication behaviors significantly improved in the animal-assisted activities experimental condition compared to the control condition ( p = 0.0001). Specifically, participants in the animal-assisted activities experimental condition displayed more positive emotional facial expressions ( p 0.0001), talking ( p = 0.0408), use of gestures ( p = 0.032), and looking at both adults and peers ( p 0.0001). In addition, a higher frequency of constant motion ( p = 0.003) was observed in the animal-assisted activities experimental condition. Results suggest that animal-assisted activities with a dog may promote social-communication behaviors in psychiatrically hospitalized youth with autism spectrum disorder. Given the fact that social and communication behaviors can facilitate treatment engagement for this population, we recommend future studies examine how such improvements can positively affect the psychiatric treatment of this population.
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6. Gotts SJ, Ramot M, Jasmin K, Martin A. {{Altered resting-state dynamics in autism spectrum disorder: Causal to the social impairment?}}. {Prog Neuropsychopharmacol Biol Psychiatry};2019 (Mar 2);90:28-36.
Autism spectrum disorder (ASD) is characterized by profound impairments in social abilities and by restricted interests and repetitive behaviors. Much work in the past decade has been dedicated to understanding the brain-bases of ASD, and in the context of resting-state functional connectivity fMRI in high-functioning adolescents and adults, the field has established a set of reliable findings: decreased cortico-cortical interactions among brain regions thought to be engaged in social processing, along with a simultaneous increase in thalamo-cortical and striato-cortical interactions. However, few studies have attempted to manipulate these altered patterns, leading to the question of whether such patterns are actually causally involved in producing the corresponding behavioral impairments. We discuss a few such recent attempts in the domains of fMRI neurofeedback and overt social interaction during scanning, and we conclude that the evidence of causal involvement is somewhat mixed. We highlight the potential role of the thalamus and striatum in ASD and emphasize the need for studies that directly compare scanning during multiple cognitive states in addition to the resting-state.
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7. Han GT, Tomarken AJ, Gotham KO. {{Social and nonsocial reward moderate the relation between autism symptoms and loneliness in adults with ASD, depression, and controls}}. {Autism Res};2019 (Mar 2)
Individuals with autism spectrum disorder (ASD) report high levels of co-occurring mood disorders. Previous work suggests that people with ASD also experience aberrant responses to social reward compared to typically developing (TD) peers. In the TD population, aberrant reward processing has been linked to anhedonia (i.e., loss of pleasure), which is a hallmark feature of depression. This study examined the interplay between self-reported pleasure from social and nonsocial rewards, autism symptom severity, loneliness, and depressive symptoms across adults with autism spectrum disorder (ASD; N = 49), TD currently depressed adults (TD-dep; N = 30), and TD never depressed controls (TD-con; N = 28). The ASD cohort reported levels of social and nonsocial anhedonia that were greater than TD-con but not significantly different from TD-dep. Across cohorts, both social and nonsocial hedonic capacity moderated the relationship between autism symptoms and loneliness: individuals with low capacity for pleasure experienced elevated loneliness regardless of autism symptom severity, while those with intact capacity for pleasure (i.e., less anhedonia) experienced greater loneliness as a function of increased autism symptoms. Loneliness was the strongest predictor of depressive symptoms across clinical cohorts. Our findings suggest a putative pathway from trait-like anhedonia in ASD to depression via elevated loneliness and indicate that variability in hedonic capacity within the autism spectrum may differentially confer risk for depression in adults with ASD. Results underscore potential mental health benefits of social skills interventions and community inclusion programs for adults with ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The relationship between autism symptoms and loneliness depended on one’s ability to experience both social and nonsocial pleasure. Adults who experienced less pleasure reported high levels of loneliness that did not depend autism severity, while adults with high capacity for pleasure were especially lonely if they also had many autism symptoms. Loneliness was the strongest predictor of depressive symptoms, compared to capacity for social and nonsocial pleasure and autism symptoms.
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8. Htut M, Ho E, Wiles J. {{A Study of Asian Children Who are Diagnosed with Autism Spectrum Disorder and Available Support Services in Auckland, New Zealand}}. {J Autism Dev Disord};2019 (Feb 28)
This study reviews the demographic characteristics of Asian children diagnosed with autism spectrum disorder (ASD) in Auckland, New Zealand, the support services they can access, and how more equitable access to health services can be provided. We examined government and non-government support services for Asian children diagnosed with ASD and their families. The findings reflect the complexities of navigating and accessing health, disability, education and social support services. Analysis of Ministry of Health Disability Support Services (DSSs) data suggest that Asians in New Zealand are underrepresented in utilizing DSSs. Drawing on Andersen’s health care utilization model, suggestions for more equitable access to health, disability, education and social support include culturally and linguistically appropriate health care and social policies.
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9. Huang F, Chen X, Jiang X, Niu J, Cui C, Chen Z, Sun J. {{Betaine Ameliorates Prenatal Valproic Acid-induced Autism-like Behavioral Abnormalities in Mice by Promoting Homocysteine Metabolism}}. {Psychiatry Clin Neurosci};2019 (Feb 28)
AIM: Abnormal high level of Homocysteine (Hcy) is associated with autism spectrum disorder (ASD). Betaine is a methyl group donor in Hcy metabolism, and is known to prevent noxious Hcy accumulation. This study explored whether betaine could influence Hcy metabolism in a mouse model of autism and ameliorate behavioral abnormalities. METHODS: Pregnant ICR mice were administered intraperitoneally with valproic acid (VPA) at E12.5. Serum Hcy concentrations in the offspring were measured by ELISA. Expressions of Hcy metabolism related enzymes, BHMT, CBS and MTR, were measured by qRT-PCR and western blotting. Offspring were treated by either betaine or saline at the age of 8 weeks and serum Hcy concentrations were measured. Social behaviors were assessed by sniff duration test and three chamber test. Repetitive behavior was evaluated by marble burying test. Tail flick test was performed to measure nociceptive sensitivity. RESULTS: Prenatal VPA-exposed mice showed significantly elevated Hcy concentrations and decreased BHMT expression. Treatment with betaine could reduce Hcy level in VPA-exposed mice, attenuate social impairment and repetitive behavior, and normalize nociceptive sensitivity in this model. CONCLUSION: Betaine could ameliorate autism-like features and play a beneficial role in mouse autism model induced by prenatal VPA exposure. This article is protected by copyright. All rights reserved.
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10. Kapp SK, Steward R, Crane L, Elliott D, Elphick C, Pellicano E, Russell G. {{‘People should be allowed to do what they like’: Autistic adults’ views and experiences of stimming}}. {Autism};2019 (Feb 28):1362361319829628.
‘Stereotyped or repetitive motor movements’ are characterised as core features in the diagnosis of autism, yet many autistic adults (and the neurodiversity movement) have reclaimed them as ‘stimming’. Supported by a growing body of scientific research, autistic adults argue that these behaviours may serve as useful coping mechanisms, yet little research has examined stimming from the perspective of autistic adults. Through interviews and focus groups, we asked 32 autistic adults to share their perceptions and experiences of stimming, including the reasons they stim, any value doing so may hold for them and their perceptions of others’ reactions to stimming. Using thematic analysis, we identified two themes: stimming as (1) a self-regulatory mechanism and (2) lacking in social acceptance, but can become accepted through understanding. Autistic adults highlighted the importance of stimming as an adaptive mechanism that helps them to soothe or communicate intense emotions or thoughts and thus objected to treatment that aims to eliminate the behaviour.
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11. Kinnaird E, Norton C, Stewart C, Tchanturia K. {{Same behaviours, different reasons: what do patients with co-occurring anorexia and autism want from treatment?}}. {Int Rev Psychiatry};2019 (Mar 1):1-10.
Research suggests that up to one in four individuals with anorexia nervosa (AN) may be on the autistic spectrum, and that these autistic traits may not have been recognized or diagnosed prior to eating disorder (ED) treatment. Significantly, these heightened autistic traits are associated with poorer treatment outcomes, suggesting that treatment may need to be adapted for this population. The purpose of this study was to explore with people with AN on the autistic spectrum their experiences of ED treatment, and their views on what needs to be changed. Women with AN (n= 13), either with an autism diagnosis or presenting with clinically significant levels of autistic traits, were interviewed on their experiences of treatment and potential improvements. Interviews were analysed using thematic analysis. The findings suggest that this population experience unique needs associated with their autism that are not being met by standard ED treatments, and recommendations are made for potential future adaptations. Future research into a more systematic approach for treatment adaptations for this population, including education programmes for clinicians, could potentially lead to better treatment experiences.
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12. Lin CW, Lin HY, Lo YC, Chen YJ, Hsu YC, Chen YL, Tseng WI, Gau SS. {{Alterations in white matter microstructure and regional volume are related to motor functions in boys with autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry};2019 (Mar 2);90:76-83.
BACKGROUND: Altered inter-regional structural connectivity related to higher cognitive functions has been commonly reported in individuals with autism spectrum disorder (ASD). However, whether these alterations similarly involve cortico-cerebellar motor circuitries remains largely elusive. METHODS: Using a cross-modality approach accounting for in-scanner motion levels, we investigated white matter (WM) properties in motor circuits of 55 boys with ASD (aged 8-18years) and 68 age-matched typically developing boys. Regional WM volumes in the primary motor, supplementary motor, somatosensory, and cerebellar areas were investigated using voxel-based morphometry. Diffusion spectrum imaging tractography was used to estimate WM integrity of the corticospinal, cortico-ponto-cerebellar (including fronto-ponto-cerebellar and parieto-ponto-cerebellar), and dentato-rubro-thalamo-cortical tracts. The reaction time test in the Cambridge Neuropsychological Test Automated Battery was used to assess motor performances. RESULTS: Boys with ASD had shorter movement time, increased WM volumes in the left somatosensory area, but decreased generalized fractional anisotropy value in the left parieto-ponto-cerebellar tract, compared to controls. A positive correlation between movement time and microstructural properties of the left parieto-ponto-cerebellar tract was found in boys with ASD. CONCLUSIONS: As the first study to demonstrate altered WM properties in the left somatosensory area, and its descending pathway connecting to the cerebellum in ASD, current results may highlight a potential new target of interventions for motor performance in ASD.
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13. Nadeem A, Ahmad SF, Attia SM, Al-Ayadhi LY, Bakheet SA, Al-Harbi NO. {{Oxidative and inflammatory mediators are upregulated in neutrophils of autistic children: Role of IL-17A receptor signaling}}. {Prog Neuropsychopharmacol Biol Psychiatry};2019 (Mar 2);90:204-211.
Autism spectrum disorder (ASD) is characterized by repetitive behaviors, impaired social communication and stereotyped interests, and often associated with dysregulations in innate/adaptive immune cells. IL-17A has been linked with abnormal behavioral patterns observed in autistic children and animal models of autism. However, it is yet to be investigated if IL-17A and its receptors are implicated in regulation of oxidative and inflammatory mediators in neutrophils of ASD patients. Therefore, we pursued to identify the effect of IL-17 receptor (IL-17R), and its inflammatory potential in neutrophils from ASD (n=45) and typically developing control (TDC; n=40) subjects. IL-17A, its receptor (IL-17R), associated signaling pathways [nuclear transcription factor nuclear factor-kappa B (NF-kappaB), IL-6 and oxidative stress parameters such as NADPH oxidase (NOX2), inducible nitric oxide synthase (iNOS), reactive oxygen species (ROS), and nitrotyrosine] were determined in the neutrophils from TDC and ASD subjects. Our data show that IL-17A expression, and IL-17R are increased in neutrophils of ASD patients. Further, inflammatory signaling pathways such as such as phospho-NFkappaB, and ROS generating enzymes, i.e. NOX2/iNOS are increased in neutrophils of ASD patients as compared TDC subjects. Furthermore, activation of IL-17A/IL-17R signaling in neutrophils of ASD subjects leads to upregulation of phospho-NFkappaB, IL-6 and NOX2/ROS, thus suggesting a compelling role of IL-17A in modulation of inflammation. Our study displays for the first time that IL-17A/IL-17R signaling in neutrophils could play a pivotal role in autism through upregulation of oxidative and inflammatory mediators.
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14. Nuske HJ, Finkel E, Hedley D, Parma V, Tomczuk L, Pellecchia M, Herrington J, Marcus SC, Mandell DS, Dissanayake C. {{Heart rate increase predicts challenging behavior episodes in preschoolers with autism}}. {Stress};2019 (Mar 1):1-9.
Identifying triggers for challenging behavior is difficult in some children with autism because of their limited communication abilities. Physiological indicators of stress may provide important insights. This study examined whether heart rate (HR) predicts challenging behavior in children with autism. While wearing an electrocardiograph monitor, 41 children with autism aged 2- to 4-years participated in tasks designed to induce low-level stress (e.g. waiting for a snack). Coders identified 106 time periods during which challenging behaviors occurred and also coded 106 randomly selected time samples that did not include challenging behaviors. Thirteen (32%) participants exhibited challenging behaviors and were included in the study. Baseline-corrected HR was computed for each behavior/time sample. On average, children with autism showed a 22 +/- 16% HR increase from baseline 58 +/- 22 seconds before the onset of a challenging behavior episode. Peak HR change had moderate predictive utility (area under the curve = .72, p < .001). The increase in HR before challenging behaviors was similar for children of different characteristics (age, autism severity, expressive language ability, overall developmental ability). Results highlight the promise of using physiological stress to predict challenging behavior in preschoolers with autism; although, they need to be replicated in larger samples. Given recent advances in wearable biosensing, it may be useful to incorporate HR monitoring in autism intervention. Lay summary In children with autism, changes in heart rate (HR) may help us predict when challenging behavior is about to occur - but this hypothesis has not been well studied. In this study, HR increase moderately predicted challenging behavior in preschoolers with autism. Given recent advances in wearable sensors, it may be useful to incorporate HR monitoring in autism intervention. Lien vers le texte intégral (Open Access ou abonnement)
15. Sam AM, Cox AW, Savage MN, Waters V, Odom SL. {{Disseminating Information on Evidence-Based Practices for Children and Youth with Autism Spectrum Disorder: AFIRM}}. {J Autism Dev Disord};2019 (Feb 28)
Comprehensive reviews of the research literature have identified that focused intervention practices for children and youth with autism spectrum disorder have evidence of producing positive developmental and learning outcomes. The Autism Focused Intervention Resources and Modules (AFIRM) project has translated evidence-based practices identified by Wong et al. (Journal of Autism and Developmental Disorders 45(7):1951-1966, 2015) into online learning modules. The purpose of this paper is to describe (1) the process for translating the research literature into practical information that practitioners can use, (2) its dissemination through a freely accessible website, (3) the use of the modules by over 64,500 users located in the United States and abroad, (4) knowledge gained as a result of completing the modules, and (5) consumers’ evaluations of modules usefulness and relevance.
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16. Smith DaWalt L, Hong J, Greenberg JS, Mailick MR. {{Mortality in individuals with autism spectrum disorder: Predictors over a 20-year period}}. {Autism};2019 (Feb 28):1362361319827412.
Research has shown that individuals with autism spectrum disorder have higher rates of health problems throughout childhood, adolescence, and adulthood, and that this may result in elevated risk of early mortality. This study reported the rate, timing, and causes of death in a large community-based cohort of adolescents and adults with autism spectrum disorder ( n = 406) over a 20-year period (1998-2018) and identified predictors of mortality. Over this period, 6.4% of individuals died at an average age of 39 years. Causes of death included chronic conditions (such as cancer and heart disease), accidents (such as choking on food and accidental poisoning), and health complications due to medication side effects. Even after controlling for age and health status, significant predictors of mortality were early childhood levels of impairments in social reciprocity and high levels of functional impairments at the start of the study period. The results suggest the importance of social engagement and functional self-sufficiency across the life course, as well as adequate access to health care for individuals with autism spectrum disorder.
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17. Sweetman DU, O’Donnell SM, Lalor A, Grant T, Greaney H. {{Zinc and Vitamin A Deficiency in a Cohort of Children with Autism Spectrum Disorder}}. {Child Care Health Dev};2019 (Feb 28)
BACKGROUND AND OBJECTIVES: Studies suggest that trace element and vitamin deficiencies are common in children with Autism Spectrum Disorder (ASD). Data describing the rates of vitamin and trace element deficiencies in the ASD population of the North-West of Ireland is lacking. We wished to determine the prevalence of zinc and vitamin A deficiency in the ASD population compared to controls within this geographical area. METHODS: Parents of children aged 2-18 years with ASD were invited to participate in the study. The control group consisted of well children attending the paediatric department for routine blood sampling. Children on vitamin supplements were excluded from both ASD and control groups. Informed written consent was obtained prior to recruitment. Samples were analysed for zinc and vitamin A levels according to standardised laboratory procedures. RESULTS: Seventy-four of the 150 children with ASD who were invited and 72 controls underwent blood sampling. Mean zinc and vitamin A levels were normal in both groups. There were significantly more males in the ASD group (88% versus 56%, p-value<0.001). The mean (SD) zinc level was not different between the groups [ASD 11.7 (1.7) versus control 11.6 (2.1) mumol/L, p-value = 0.86]. The mean (SD) vitamin A level was higher in the ASD group [ASD 350.6 (82.6) versus 319.2 (82.8) mug/L, p-value = 0.03] but this was likely confounded by age. CONCLUSION: Children with ASD in the North-West of Ireland have mean zinc and vitamin A levels within the normal range. It is important that these findings are relayed to health professionals and to parents of children with ASD so that informed decisions on vitamin supplementation can be made. Lien vers le texte intégral (Open Access ou abonnement)
18. Tarver J, Palmer M, Webb S, Scott S, Slonims V, Simonoff E, Charman T. {{Child and parent outcomes following parent interventions for child emotional and behavioral problems in autism spectrum disorders: A systematic review and meta-analysis}}. {Autism};2019 (Feb 28):1362361319830042.
There is growing interest in the development of behavioral parent interventions targeting emotional and behavioral problems in children with autism spectrum disorders. Such interventions have potential to improve a number of child and parental well-being outcomes beyond disruptive child behavior. This systematic review and meta-analysis assesses evidence for the efficacy of behavioral parent interventions for disruptive and hyperactive child behavior in autism spectrum disorders, as well as parenting efficacy and stress. A total of 11 articles from nine randomized controlled trials were included. Sufficient data were available to calculate standardized mean difference and show favorable effects of behavioral parent interventions on parent-reported measures of child disruptive behavior (standardized mean difference = 0.67), hyperactivity (standardized mean difference = 0.31) and parent stress (standardized mean difference = 0.37); effects on parent efficacy are less clear (standardized mean difference = 0.39, p = 0.17). There were insufficient data to explore intervention effects on internalizing behavior in autism spectrum disorders, parenting behaviors, or observational and teacher-reported outcomes, providing important avenues for future research. This review adds to growing evidence of the efficacy of behavioral parent interventions for child behavior and parental well-being in autism spectrum disorders (Prospero: CRD42016033979).
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19. Trueb RM, Dutra H, Dias M. {{Autistic-Undisciplined Thinking in the Practice of Medical Trichology}}. {Int J Trichology};2019 (Jan-Feb);11(1):1-7.
Medical trichology is the branch of dermatology that deals with the scientific study of the hair and scalp in health and disease. As any discipline, the practice of medical trichology is not immune to malpractice, either deliberately or carelessly. In his publication « Autistic Undisciplined Thinking in Medicine and How to Overcome It, » Swiss psychiatrist Eugen Bleuler describes yet another form of malpractice in medicine reflecting autistic-undisciplined thinking. Autism is not limited to psychopathology, but inherent to the thinking of man throughout history in his drive for knowledge, with thousands of theories lacking any basis in reality. Bleuler recognized the drive character of autistic thinking and how it leads to conclusions that are unshakable because they are determined by, and fulfill, emotional needs, rather than rational argumentation. Even with correct questions, the complexity and incalculability of some problems are often so great that it cannot do justice to realistic thinking and the boundaries between inadequately substantiated hypothesis and autistic sham explanation disappear. Statistics, careful research design, and the attempt to impose stringent methods on our thinking are to be commended. The habituation of the public to useless medicine, to misconceptions, is not hygiene, but negligent endangerment. It has created an industry that largely lives on the autistic thinking of patients and doctors and because it is prosperous, makes propaganda among lay people as well as among doctors that necessarily leads to abuses. This article aims at exposing the most prevalent among abuses in trichological practice due to autistic-undisciplined thinking, specifically: iron supplementation, antiandrogenic treatment, and individualized cell-based therapy in female androgenetic alopecia, treatment of folliculitis decalvans with retinoids, and the value of nutritional therapies.
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20. Vashi N, Justice MJ. {{Treating Rett syndrome: from mouse models to human therapies}}. {Mamm Genome};2019 (Feb 28)
Rare diseases are very difficult to study mechanistically and to develop therapies for because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome (RTT) is discussed as a prototype for precision medicine, demonstrating how mouse models have led to an understanding of the development of symptoms. RTT is caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). Mecp2-mutant mice are being used in preclinical studies that target the MECP2 gene directly, or its downstream pathways. Importantly, this work may improve the health of RTT patients. Clinical presentation may vary widely among individuals based on their mutation, but also because of the degree of X chromosome inactivation and the presence of modifier genes. Because it is a complex disorder involving many organ systems, it is likely that recovery of RTT patients will involve a combination of treatments. Precision medicine is warranted to provide the best efficacy to individually treat RTT patients.
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21. Wyman J, Claro A. {{The UCLA PEERS School-Based Program: Treatment Outcomes for Improving Social Functioning in Adolescents and Young Adults with Autism Spectrum Disorder and Those with Cognitive Deficits}}. {J Autism Dev Disord};2019 (Feb 28)
This study examined the efficacy of the school-based Program for the Education and Enrichment of Relational Skills on the social functioning of young adults with autism and cognitive deficits. The program was administered bi-weekly at a private school for students with special needs. Students’ social etiquette knowledge, friendship engagement and teacher reported levels of their social functioning were assessed pre- and post-intervention. All participants experienced significantly improved knowledge of appropriate social etiquette. Further, students with cognitive deficits, but not those with autism, reported a significant increase in friendship engagement. Overall, the PEERS school curriculum benefited young adults with cognitive deficits, but the students with ASD experienced more challenges applying their new social skills outside of the program.
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22. Xie S, Karlsson H, Dalman C, Widman L, Rai D, Gardner RM, Magnusson C, Schendel DE, Newschaffer CJ, Lee BK. {{Family History of Mental and Neurological Disorders and Risk of Autism}}. {JAMA Netw Open};2019 (Mar 1);2(3):e190154.
Importance: Familial aggregation of mental and neurological disorders is often observed in autism spectrum disorders (ASD), but reports have generally focused on single disorders and are limited to first-degree relatives. Objectives: To examine family history of mental and neurological disorders among first- to fourth-degree relatives and risk of ASD with and without intellectual disability (ID) in index persons. Design, Setting, and Participants: In this population-based cohort study, 567436 index persons were identified from the Stockholm Youth Cohort, an ongoing longitudinal register-linkage cohort study of the total population aged 0 to 17 years residing in Stockholm County, Sweden. Index persons were nonadopted singleton births born between 1984 and 2009 who were at least 2 years of age at the end of follow-up on December 31, 2011, had resided in Stockholm County for at least 2 years since birth, and could be linked to both biological parents. Data analysis was conducted from May 2017 to December 2018. Exposure: Mental and neurological diagnoses of relatives of the index persons. Main Outcomes and Measures: Diagnosis of ASD, with or without co-occurring ID, in the index persons. Results: The cohort included 567436 index persons (291191 [51.3%] male; mean [SD] age at the end of follow-up, 14.3 [7.5] years). The prevalence of ASD with and without ID was 0.4% and 1.5%, respectively. Positive family history of mental and neurological disorders was associated with higher odds of ASD in index persons; 6895 (63.1%) of index persons with ASD had a parent with history of mental and/or neurological disorders, compared with 252454 (45.4%) of index persons without ASD. Family history of multiple disorders was associated with higher odds of ASD in index persons, including history of ASD (odds ratio among first-degree relatives for ASD with and without ID: 14.2, 9.0), intellectual disability (7.6, 2.3), attention-deficit/hyperactivity disorder (3.3, 4.7), obsessive compulsive disorder (1.9, 2.1), schizophrenia and other nonaffective psychotic disorders (2.1, 1.8), depression (1.4, 2.0), bipolar disorder (1.4, 2.2), personality disorder (2.1, 2.6), cerebral palsy (2.2, 1.5), and epilepsy (2.0, 1.3). The more closely related the affected family member was, the higher the odds was of ASD for the index person. ASD without intellectual disability was associated with more disorders compared to ASD with intellectual disability. ASD with intellectual disability exhibited a weaker familial association with other mental disorder diagnoses but a stronger familial association with some neurological diagnoses as compared to ASD without intellectual disability. Conclusions and Relevance: This study suggests that family history of mental and neurological disorders is associated with increased risk of ASD. The familial component of ASD etiology may differ by presence or absence of co-occurring ID.
