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Adaptive Morphing and Coping with Social Threat in Autism: An Autistic Perspective
Lawson, W. B.
Abstract
This paper highlights the role of terminology, such as camouflage and masking, commonly used in autism research.
The author suggests researchers question assumptions around language commonly used to check it is fully representative of the autistic position.
Being autistic often means being very literal. This literality means it is very important for researchers – particularly non-autistic researchers – to design research questions in a way that will gather accurate information often underlying autistic understanding. Words are powerful tools and lead to beliefs and positions held.
Adaptive morphing in autism (currently referred to as camouflage or masking) infers a response, not of deceit, but one that is biological and not necessarily chosen.
The author of this paper suggests masking, as a choice to deceive, is quite different from adaptive morphing for safety.
Pre-menstrual Dysphoric Disorder: A Review
Dahuja Malvika and Agarwal Supriya
Abstract
Introduction:
Premenstrual dysphoric disorder (PMDD) is a distressing disorder amongst women of reproductive age group with significant implication in the productivity and quality of life of women who suffer from it. It is generally neglected as it is mostly undifferentiated from premenstrual symptoms—milder presentation of the same spectrum of problem but of lesser intensity and impairment.
Objective:
Here, in this article, we aim to highlight various studies and the research done on PMDD in the context of Indian women.
Method:
Reviewing the last 40 years’ database including Medline (PUBMED), Cochrane Library, EMBASE, Trip, Psych INFO, CINAHL, the Allied and Complementary Medicine Database (AMED), and the British Nursing Index.
Results: PMDD is a troublesome disorder, often underdiagnosed. A thorough history including menstrual and sexual history, conducting a thorough physical examination, assessing the comorbidities, and finally using a proper and structured treatment protocol for managing the condition are recommended. Sertraline is the most widely studied drug which is found to be effective in PMDD.
Extreme ‘pathological’ demand avoidance: an overview
Elizabeth O'Nions, Judith Eaton
Abstract
Pathological demand avoidance (PDA) was coined in the 1980s to describe children on the spectrum of pervasive developmental disorders who show an obsessive resistance to everyday demands, an extreme need for control, and an apparently poor sense of social identity, pride, or shame.
The term PDA has since attracted considerable interest and controversy.
Here, we provide an overview of PDA, discuss the clinical presentation of individuals with a PDA profile, and differences compared to children with documented attachment difficulties.
We then discuss empirical work describing how anxiety-driven avoidance of routine demands can emerge in children with ASD.
We provide recommendations for strategies that aim to avoid strengthening habitual avoidance behaviours, and instead, allow new mutually rewarding routines to develop, which may provide opportunities to gradually increase the child's tolerance of demands.
We argue that using the PDA profile, or describing relevant behaviours, as part of a clinical formulation can be helpful in alerting caregivers and educational professionals to particular challenges surrounding compliance with everyday requests in some children with ASD.
Autism and associated disorders: cannabis as a potential therapy.
Mariana Babayeva, Haregewein Assefa,Paramita Basu, Zvi Loewy
Abstract
Autism spectrum disorder (ASD) is a group of disabilities with impairments in physical, verbal, and behavior areas.
Regardless the growing frequency of autism, no medicine has been formed for the management of the ASD primary symptoms. The most frequently prescribed drugs are off-label. Therefore, there is necessity for an advance tactic for the treatment of autism.
The endocannabinoid system has a central role in ruling emotion and social behaviors.
Dysfunctions of the system donate to the behavioral deficits in autism. Therefore, the endocannabinoid system represents a potential target for the development of a novel autism therapy.
Cannabis and associated compounds have produced substantial research attention as a capable therapy in neurobehavioral and neurological syndromes.
In this review we examine the potential benefits of medical cannabis and related compounds in the treatment of ASD and concurrent disorders.
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease
Cinzia Carrozza, Laura Foca, Elisa De Paolis, and Paola Concolino
Abstract
Copy Number Variations (CNVs) account for a large proportion of human genome and are a primary contributor to human phenotypic variation, in addition to being the molecular basis of a wide spectrum of disease.
Multiallelic CNVs represent a considerable fraction of large CNVs and are strictly related to segmental duplications according to their prevalent duplicate alleles.
RCCX CNV is a complex, multiallelic and tandem CNV located in the major histocompatibility complex (MHC) class III region.
RCCX structure is typically defined by the copy number of a DNA segment containing a series of genes – the serine/threonine kinase 19 (STK19), the complement 4 (C4), the steroid 21-hydroxylase (CYP21), and the tenascin-X (TNX) – lie close to each other.
In the Caucasian population, the most common RCCX haplotype (69%) consists of two segments containing the genes STK19-C4A-CYP21A1P-TNXA-STK19B-C4B-CYP21A2-TNXB, with a telomere-to-centromere orientation.
Nonallelic homologous recombination (NAHR) plays a key role into the RCCX genetic diversity: unequal crossover facilitates large structural rearrangements and copy number changes, whereas gene conversion mediates relatively short sequence transfers.
The results of these events increased the RCCX genetic diversity and are responsible of specific human diseases.
This review provides an overview on RCCX complexity pointing out the molecular bases of Congenital Adrenal Hyperplasia (CAH) due to CYP21A2 deficiency, CAH-X Syndrome and disorders related to CNV of complement component C4.
Estimating the Prevalence and Genetic Risk Mechanisms of ARFID in a Large Autism Cohort
Koomar, T., Thomas, T.R., Pottschmidt, N.R., Lutter, M. and Michaelson, J.J.
Abstract
This study is the first genetically-informed investigation of avoidant/restrictive food intake disorder (ARFID), an eating disorder that profoundly impacts quality of life for those affected.
ARFID is highly comorbid with autism, and we provide the first estimate of its prevalence in a large and phenotypically diverse autism cohort (a subsample of the SPARK study, N = 5,157 probands).
This estimate, 21% (at a balanced accuracy 80%), is at the upper end of previous estimates from studies based on clinical samples, suggesting under-diagnosis and potentially lack of awareness among caretakers and clinicians.
Although some studies suggest a decrease of disordered eating symptoms by age 6, our estimates indicate that up to 17% (at a balanced accuracy 87%) of parents of autistic children are also at heightened risk for ARFID, suggesting a lifelong risk for disordered eating.
We were also able to provide the first estimates of narrow-sense heritability (h2) for ARFID risk, at 0.45.
Genome-wide association revealed a single hit near ZSWIM6, a gene previously implicated in neurodevelopmental conditions.
While, the current sample was not well-powered for GWAS, effect size and heritability estimates allowed us to project the sample sizes necessary to more robustly discover ARFID-linked loci via common variants.
Further genetic analysis using polygenic risk scores (PRS) affirmed genetic links to autism as well as neuroticism and metabolic syndrome.
Exploring the Potential of Cannabinoids in the Treatment of Tourette’s Syndrome
F Cunha, I Santos, N Castro, R Andrade, E Almeida, J Abreu, J Martins, R Vaz, S Borges
Abstract
Introduction Tourette’s syndrome (TS) is a disorder characterized by repetitive, involuntary movements, and vocalizations known as tics. While there are existing treatment options, there is a growing need for novel pharmacological approaches to manage the symptoms of TS effectively.
This study delves into the emerging field of using cannabinoids as a potential treatment for Tourette’s syndrome.
Objectives
The primary objectives of this review are to examine the current evidence base for the use of cannabinoids in the treatment of Tourette’s syndrome, to assess the biological rationale supporting the use of cannabinoids in managing tic severity, to provide insights into the results of existing clinical trials involving cannabinoids and Tourette’s syndrome, and to draw conclusions regarding the potential efficacy and safety of cannabinoid-based treatments for TS.
Methods
Narrative review of the available scientific literature.
Results
There is a strong biological rationale for how cannabinoids could impact tic severity.
The endocannabinoid system plays a crucial role in regulating various physiological processes, including motor control and neurotransmitter release.
Activation of cannabinoid receptors in the brain may modulate these processes, potentially reducing tics. While limited, two small randomized, placebo-controlled trials of THC have been conducted in TS patients.
These trials suggested potential benefits of cannabis-derived agents in reducing tic frequency and severity.
Self-report and examiner rating scales demonstrated significant improvements in tic symptoms.
The trials indicated that THC treatment did not result in significant adverse effects in TS patients.
Conclusions
The exploration of cannabinoids as a treatment option for Tourette’s syndrome is promising but requires further investigation.
The biological mechanisms through which cannabinoids may affect tic severity in TS are sound, suggesting their potential as a therapeutic option.
Existing trials with THC have shown encouraging results, demonstrating a reduction in tics without significant adverse effects.
However, the limited number of trials warrants caution in drawing definitive conclusions.
Despite the promising findings, the overall efficacy and safety of cannabinoid-based treatments remain largely unknown.
Further trials are essential to address dosing, active ingredients, optimal administration, and potential long-term effects.
Clinical use should be approached with caution.
While early evidence is encouraging, additional rigorous studies are needed to establish the safety and efficacy of cannabinoid-based treatments for this disorder.
Demand avoidance - pathological, extreme or oppositional?
Ozsivadjian, A.
Abstract
Since its inception in 1980, the term PDA has generated much debate, indeed, arguably few subjects have generated such controversy in the neurodevelopmental literature.
However research in the area is moving into more practical arenas, including trying to understand why some children present with problematic demand avoidant behaviour, in order to provide practical support to families.
In this special edition of Child and Adolescent Mental Health, data from two studies are presented which begin to look for underlying factors contributing to an anxious need for control.
Commentaries then follow, highlighting inherent nosological and methodological difficulties in investigating PDA.
In this lively debate, while the controversy continues, some headway is made in terms of understanding why some young people might present with such a rigid and maladaptive response to everyday demands, including an aversion to intolerance of uncertainty leading to controlling behaviour.
It will be crucial for both health and education to develop a robust evidence base to understand the driving mechanisms for demand avoidant behaviour, and develop specific strategies for managing what can be very challenging behaviours.
Does Learning You Are Autistic at a Younger Age Lead to Better Adult Outcomes? A Participatory Exploration of the Perspectives of Autistic University Students
Oredipe, T., Kofner, B., Riccio, A., Cage, E., Vincent, J., Kapp, S.K., Dwyer, P. and Gillespie-Lynch, K.
Abstract
People learn they are autistic at different ages. We wanted to know if telling kids they are autistic earlier helps them feel better about their lives when they grow up.
We are a team of autistic and non-autistic students and professors. Seventy-eight autistic university students did our online survey. They shared how they found out they were autistic and how they felt about being autistic. They also shared how they feel about their lives now. Around the same number of students learned they were autistic from doctors and parents. Students who learned they were autistic when they were younger felt happier about their lives than people who learned they were autistic when they were older. Students who learned they were autistic when they were older felt happier about being autistic when they first found out than people who did not have to wait as long.
Our study shows that it is probably best to tell people they are autistic as soon as possible. The students who did our study did not think it was a good idea to wait until children are adults to tell them they are autistic. They said that parents should tell their children they are autistic in ways that help them understand and feel good about who they are.
Inhibition in developmental disorders: A comparison of inhibition profiles between children with autism spectrum disorder, attention-deficit/hyperactivity disorder, and comorbid symptom presentation
Amanda Cremone-Caira, Katherine Trier, Victoria Sanchez, Brooke Kohn, Rachel Gilbert, Susan Faja
Abstract
Thirty to 80% of children with autism spectrum disorder (ASD) also have symptoms of attention-deficit hyperactivity disorder (ADHD).
Many children with ASD and ADHD experience difficulties carrying out goal directed behaviors, particularly when it comes to inhibiting responses.
The aim of the current study was to better understand the relative strengths and weaknesses across different measures of inhibition in children with ASD, ADHD, ASD+ADHD, and children who are typically developing (TD).
Inhibition of distracting information, motor responses, response speed, and selections with the potential for greater loss was measured in 155 school-aged children across these four groups.
Results indicate that, for children with ASD+ADHD, inhibition varied across the different outcomes assessed.
Relative to TD children, children with ASD+ADHD showed greater difficulty inhibiting behavioral responses.
Conversely, inhibition of distracting information and strategic slowing of response speed differed between the children with ASD+ADHD and those with either ASD or ADHD.
Avoidance of potential losses did not significantly differ between the four groups.
The unique pattern of inhibition abilities shown in the ASD+ADHD group suggests the need for special consideration in the context of targeted intervention.
Unraveling Neurodiversity: Insights from Neuroscientific Perspectives
Hagar Goldberg
Abstract
Neurodiversity is a concept and a social movement that addresses and normalizes human neurocognitive heterogeneity to promote acceptance and inclusion of neuro-minorities (e.g., learning disabilities, attention disorders, psychiatric disorders, and more) in contemporary society. Neurodiversity is attributed to nature and nurture factors, and about a fifth of the human population is considered neurodivergent. What does neurodiversity mean neuroscientifically? This question forms the foundation of the present entry, which focuses on existing scientific evidence on neurodiversity including neurodiversity between and within individuals, and the evolutional perspective of neurodiversity. Furthermore, the neuroscientific view will be synergistically integrated with social approaches, particularly in the context of the normalization of neurodiversity and its association with the medical and social models of disability. This multidimensional analysis offers a cohesive and comprehensive understanding of neurodiversity, drawing insights from various vantage points, such as social, psychological, clinical, and neuroscientific viewpoints. This integrated approach fosters a nuanced and holistic discussion on the topic of human diversity.
The positive impact of identity-affirming mental health treatment for neurodivergent individuals
Kroll, E., Lederman, M., Kohlmeier, J., Kumar, K., Ballard, J., Zant, I. and Fenkel, C.
Abstract
Introduction:
The medical and social definitions of neurodivergence have become a common topic of discussion in recent years, and the ways that we define, measure and report on conditions within the neurodivergent umbrella are changing. The objective of this study was to analyze differences in mental health symptom presentation at intake and compare treatment outcomes among three groups: clients with an affirming neurodivergent diagnosis, clients without an affirming diagnosis, and neurotypical clients.
Methods:
Data were collected at intake and discharge. Clients self-reported neurodivergent identity, neurodivergent diagnoses, as well as the severity of depression symptoms, anxiety symptoms and self-harm frequency. One-way multivariate analysis of variance tests were run to assess differences in mental health symptoms at intake and discharge based on neurodivergent identity and corresponding diagnosis. When MANOVAs indicated significant differences, follow-up univariate one-way ANOVAs were conducted for each dependent variable.
Results:
Neurodivergent clients reported significantly worse mental health symptoms at intake than neurotypical clients, regardless of diagnosis status. Additionally, clients who identified as neurodivergent but did not report an affirming medical diagnosis reported significantly worse mental health symptoms than those who did report an affirming medical diagnosis. By discharge from IOP treatment, no significant differences were found in symptom change scores between neurodivergent and neurotypical individuals, or neurodivergent individuals with an affirming diagnosis and those without.
Discussion:
These findings highlight the importance of acknowledging client identity as a key component of mental health treatment. The act of validating symptoms and experiences, allowing accommodations when requested, and exploring identity formation regardless of diagnosis, allowed all clients who identified as neurodivergent to benefit from treatment.
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