Publications by authors named "Thom R"

Background: The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings.

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Prospective open-label trial. The objective of this study was to determine whether buspirone showed preliminary evidence of effectiveness, safety, and tolerability in individuals with Williams syndrome (WS). This is a 16-week, prospective, flexibly dosed, open-label trial of buspirone in 20 individuals with WS aged 5-65 years.

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Defined as the ability to adapt to adversity with a positive and stable mindset, resilience should be an important factor in coping with long-term evolving setbacks such as the COVID-19 pandemic. Although the negative mental health impacts of the pandemic are well-documented, the course of resilience during the pandemic and recovery periods remains understudied. This study examined resilience trajectories among respondents in the Canadian Personal Impacts of COVID-19 Survey (PICS) who provided data for at least two timepoints ( = 741).

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New and emerging pathogens, such as SARS-CoV2 have highlighted the requirement for threat agnostic therapies. Some antibiotics or antivirals can demonstrate broad-spectrum activity against pathogens in the same family or genus but efficacy can quickly reduce due to their specific mechanism of action and for the ability of the disease causing agent to evolve. This has led to the generation of antimicrobial resistant strains, making infectious diseases more difficult to treat.

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This study reports on uptake rates of cervical cancer prevention and screening in a clinically-referred cohort of adolescent and adult females with autism spectrum disorder (ASD). Females with ASD (11-65 years) were invited to participate in an online survey to report on uptake of the human papillomavirus (HPV) vaccination and cervical cancer screening. Participants also provided demographic and clinical information.

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Article Synopsis
  • Many adults with autism spectrum disorder (ASD) are not receiving genetic testing as recommended, with only 41% of the studied individuals having any recorded testing history.
  • The study included 630 adults with ASD, finding that testing was declined by 11% and remained unrecorded in 47% of cases; a majority of those who were tested qualified as having intellectual disabilities.
  • Among those tested, only 54% used recommended genetic testing methods, and a genetic cause of ASD was identified in 28% of instances where results were available.
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Article Synopsis
  • - Myhre syndrome is a rare genetic disorder linked to mutations in the SMAD4 gene, with recent studies from Massachusetts General Hospital highlighting its complexities through evaluations of 47 patients.
  • - The findings indicate that symptom progression occurs in all patients after at least 5 years of observation, with different SMAD4 variants associated with varying health outcomes, particularly regarding hearing loss and aortic hypoplasia.
  • - There is a call for more research and evidence-based guidelines to improve understanding and treatment of Myhre syndrome, especially given the serious complications observed, including deaths related to cardiovascular issues.
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  • The study investigates the differences in in vivo levels of translocator protein (TSPO) in adult females with autism spectrum disorder (ASD), a topic that hasn't been thoroughly explored before.
  • It involved twelve adult females with ASD and ten matched controls, using PET-MRI scans to measure TSPO levels in specific brain areas.
  • Results showed that females with ASD had higher TSPO levels in certain regions compared to controls, contrasting previous findings of lower TSPO in males with ASD, suggesting potential neuroimmuno-metabolic differences based on sex.
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Retrospective case series. The objective of this study was to provide naturalistic data on the use of guanfacine for the treatment of attention-deficit/hyperactivity disorder (ADHD) in a clinically referred sample of youth with Down syndrome (DS). The medical records of children and adolescents with DS who received guanfacine for the treatment of ADHD from a multidisciplinary neurodevelopmental disorder clinic between September 1, 2011, and September 10, 2021, were reviewed.

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Despite decades of clinical use and a large body of evidence, the WHO continues to exclude methylphenidate for attention-deficit/hyperactivity disorder (ADHD) from its EML. The exclusion of methylphenidate has dire implications for millions of individuals with ADHD worldwide, especially those living in low and low-middle income countries (LMIC), where governmental decisions to make medicines available are contingent on EML listing.

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Doping and extension of polycyclic aromatic hydrocarbons (PAHs) by simple and efficient synthetic methods is of increased demand for the development of novel and improved organic electronics. Diarylindolizino[6,5,4,3-]quinolino[2,3-][1,6]naphthyridines (quinolino-azaullazines) were prepared by combination of Pd catalyzed cross-coupling with Povarov and cycloisomerisation reactions. The products contain an electron-rich ullazine and an electron-poor quinoline moiety and show intramolecular charge transfer properties that can be tuned by the substitution pattern.

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Background: Williams syndrome (WS) is a rare genetic disorder associated with a high prevalence of anxiety disorders. Evidence-based pharmacologic treatments for anxiety in WS are lacking. The purpose of this study is to provide naturalistic data on the use of buspirone for the treatment of anxiety in WS.

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Purpose Of Review: The purpose of this review is to synthesize recent advances in the psychiatric and behavioral manifestations of Williams syndrome, a rare genetic syndrome. Recent advances have focused on more deeply characterizing the social phenotype and developing social skill interventions, improving the assessment and treatment of anxiety, and exploring eating behaviors.

Recent Findings: The social cognitive phenotype in Williams syndrome, which consists of both high social drive and social cognition deficits, is present cross-culturally and may be related to reduced eye gaze.

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This manuscript reports on a landmark symposium on the ethical, legal and technical challenges of xenotransplantation in the UK. King's College London, with endorsement from the British Transplantation Society (BTS), and the European Society of Organ Transplantation (ESOT), brought together a group of experts in xenotransplantation science, ethics and law to discuss the ethical, regulatory and technical challenges surrounding translating xenotransplantation into the clinical setting. The symposium was the first of its kind in the UK for 20 years.

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The field of regenerative medicine offers potential therapies for Type 1 Diabetes, whereby metabolically active cellular components are combined with synthetic medical devices. These therapies are sometimes referred to as "bioartificial pancreases." For these emerging and rapidly developing therapies to be clinically translated to patients, researchers must overcome not just scientific hurdles, but also navigate complex legal, ethical and psychosocial issues.

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Regenerative medicine solutions for type 1 diabetes are a rapidly developing field of medical technology. To date, these solutions have been principally cell-based treatments and at present, in Europe, these therapies are regulated under European Union regulations for advanced therapy medicinal products. But now, new emerging technology combining cellular therapy with medical devices is under development.

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Williams syndrome (WS) is a genetic disorder affecting multiple organ systems. Cardinal features include cardiovascular disease, distinct facies, and a unique cognitive profile characterized by intellectual disability, hypersociability, and visuospatial weaknesses. Here, we synthesize neuroimaging research in WS with a focus on how the current literature and future work may be leveraged to improve health and quality of life in WS.

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Purpose: This study describes participant diversity in Williams syndrome (WS) intervention studies.

Methods: A literature search was conducted to identify prospective treatment studies including participants with WS. Data was extracted on the reporting of and information provided on age, sex, cognitive ability, socioeconomic status, race, and ethnicity.

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Background: Catatonia is increasingly recognized in individuals with autism spectrum disorder (ASD). Empirical data on treating catatonia in this population are limited. The purpose of this study is to provide naturalistic data on the use of clozapine for the treatment of catatonia in patients with ASD.

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While cognitive behavioral therapy (CBT) is a first-line treatment for anxiety, it is not typically offered to those with intellectual disability (ID). In this article, we provide a historical perspective on the treatment of mental health concerns in adults with ID, describe an adapted CBT treatment for anxiety in adults with Williams syndrome (WS) and mild to moderate ID, and discuss general modifications to CBT for adults with ID. Strategies used to successfully adapt CBT for adults with WS that may generalize for adults with ID more broadly include: (a) using child-based CBT manuals as a framework; (b) involving a caregiver as a therapy partner; (c) incorporating a high level of repetition; (d) simplifying language; (e) slowing the pace of instruction; and (f) incorporating specific examples and adaptations for WS.

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Antimicrobial resistance continues to be a global issue. Pathogens, such as Burkholderia pseudomallei, have evolved mechanisms to efflux certain antibiotics and manipulate the host response. New treatment strategies are therefore required, such as a layered defense approach.

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While the core symptoms of autism spectrum disorder include repetitive thoughts and repetitive behaviors, repetitive phenomena also occur in many other psychiatric disorders. Types of repetitive thoughts include preoccupations, ruminations, obsessions, overvalued ideas, and delusions. Types of repetitive behaviors include tics, stereotypies, compulsions, extrapyramidal symptoms, and automatisms.

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Objectives: Delirium is an acute neuropsychiatric condition associated with increased morbidity and mortality. There is increasing recognition of delirium as a substantial health burden in younger patients, although few studies have characterized its occurrence. This study analyzes the occurrence of delirium diagnosis, its comorbidities, and cost among youth hospitalized in the United States.

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Article Synopsis
  • Anxiety disorders are very common and include various types such as panic disorder and social anxiety disorder, with treatment historically evolving from barbiturates and benzodiazepines to SSRIs.
  • While antipsychotics are not widely approved for anxiety treatment, there is off-label use of both first-generation and second-generation antipsychotics, particularly quetiapine, prompting systematic reviews on their effectiveness.
  • This study aims to evaluate the efficacy and safety of antipsychotics for anxiety when used alongside other treatments, compare their effectiveness as a standalone option, and assess associated risks and side effects as part of an overview of existing research.
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