Publications by authors named "Bellows S"

Article Synopsis
  • Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
  • The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
  • Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
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  • Cervical dystonia (CD) is a common neurological condition, with about one-third of patients also experiencing tremors in their head and hands, complicating diagnosis and treatment.
  • Researchers analyzed data from over 3,100 CD patients across various continents using machine learning to identify clinical features predicting the presence and nature of neck tremor.
  • Key findings revealed that increased severity of CD, longer disease duration, and older age were strong predictors of neck tremor, with notable differences in tremor characteristics based on gender and the involvement of other body parts.
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  • A large-scale genome-wide association study (GWAS) was conducted with over 6000 participants to investigate genetic risk factors for isolated dystonia, aiming to improve upon earlier studies that found no significant genetic links.
  • The study included 4303 dystonia patients and 2362 healthy controls, analyzing various factors like age of onset and affected body areas, but ultimately failed to identify any common genetic variants associated with dystonia.
  • The findings suggest that isolated dystonia may not be influenced by common genetic variations, highlighting the need for more extensive studies like whole-genome sequencing to uncover potential genetic contributions.
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The auxin signaling molecule controls a variety of growth and developmental processes in land plants. Auxin regulates gene expression through a nuclear auxin signaling pathway (NAP) consisting of the ubiquitin ligase auxin receptor TIR1/AFB, its Aux/IAA degradation substrate, and DNA-binding ARF transcription factors. Although extensive qualitative understanding of the pathway and its interactions has been obtained, mostly by studying the flowering plant Arabidopsis thaliana, it remains unknown how these translate to quantitative system behavior in vivo, a problem that is confounded by the large NAP gene families in most species.

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  • * The study involved a randomized controlled trial with 245 participants, comparing the intervention group (123 kids) to a usual treatment group (122 kids), assessing costs and quality-adjusted life-years (QALYs) over 6 months.
  • * Results showed that while the intervention had higher costs (mean difference of A$745 and A$1310 from two perspectives), it also led to better sleep outcomes (mean QALY difference of 0.038), indicating a 93.8% chance of being cost-effective
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  • - The study aimed to create and validate a patient-reported outcome scale (TETRAS PRO) for essential tremor, addressing a gap in existing assessments that rely on structured interviews and physical exams.
  • - The TETRAS PRO demonstrated strong correlations with established scales (TETRAS ADL, TETRAS-P, and QUEST) and showed good reliability, making it a useful tool for evaluating essential tremor impacts over time.
  • - The scale's effectiveness is influenced mainly by tremor severity and mood (specifically depression), with findings suggesting that it can detect clinically significant changes in patients' conditions.
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Models of acoustical systems commonly employ end corrections to represent the radiation impedance of a vibrating element. Although several analytic solutions appear in the literature, the end corrections of an infinitely baffled circular piston and an unbaffled semi-infinite circular pipe remain popular in modeling applications. This Letter compares the end correction of these two configurations to that of a radially vibrating cap on a sphere.

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Theoretical models based on spherical geometries have long provided essential insights into the directional behavior of sound sources such as loudspeakers and human speech. Because commonly applied models predict omnidirectional radiation at low frequencies and increasing directionality at higher frequencies, they fail to predict the directional characteristics of certain sources with different source geometries. These sources include violins and open-back guitar amplifiers that have openings or ports connecting a cavity or enclosure to the exterior domain.

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Auxin is a well-studied plant hormone, the spatial distribution of which remains incompletely understood. Here, we investigate the effects of cell growth and divisions on the dynamics of auxin patterning, using a combination of mathematical modelling and experimental observations. In contrast to most prior work, models are not designed or tuned with the aim to produce a specific auxin pattern.

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  • Dystonia can be categorized into focal, segmental, multifocal, and generalized types based on the body regions affected, with a focus on non-focal dystonia in this study.
  • The study analyzed 1,618 participants using a data-driven approach involving frequency tables and clustering methods to identify patterns in how different body regions are affected by dystonia.
  • Three major clusters were identified: cervical dystonia with nearby regions, bilateral hand dystonia, and cranial dystonia, indicating strong associations between certain body parts and the potential for new subtypes of dystonia.
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The distinctive geometry and structural characteristics of Balinese gamelan gongs lead to the instrument's unique sound and musical style. This work presents high-resolution directivity measurements of two types of gamelan gongs to quantify and better understand their acoustic behavior. The measured instruments' structural modes clearly impact their far-field directivity patterns, with the number of directional lobes corresponding to the associated structural mode shapes.

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Acousticians typically consider the acoustic center of a source to be the point from which sound waves appear to diverge spherically. Many applications require the center's accurate determination, but its deeper significance and means of assessment have often remained ambiguous. This work revisits the acoustic center and shows how a low-frequency sound radiator with omnidirectional far-field directivity has a center defined by its dipole-to-monopole moment ratio.

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Objective: To investigate the longitudinal associations between COVID-19 induced stress (related to COVID-19 restrictions/changes), attention-deficit/hyperactivity disorder (ADHD) symptoms, oppositional symptoms, and mental health outcomes (negative affect, anxiety, depression, and irritability) in children with ADHD during the COVID-19 pandemic.

Method: Parents of 140 Australian children with ADHD (aged 5-17 years) completed an online survey in May 2020 during stay-at-home restrictions and 12-months later.

Results: Baseline COVID-19 stress was associated with increased total ADHD symptom severity (β = .

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This study examined the sustained and moderating effects of a behavioural sleep intervention for autistic children in a randomised controlled trial. Autistic children (5-13 years) with sleep problems were randomised to the Sleeping Sound intervention or Treatment as Usual (TAU). At 12-month follow-up (n = 150), caregivers of children in the Sleeping Sound group reported greater reduction in child sleep problems compared to TAU (p < .

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Article Synopsis
  • The study aimed to better understand blepharospasm, a type of dystonia, by examining its various clinical features through a systematic literature review and analyzing a larger cohort of patients.
  • Findings revealed that blepharospasm typically appears in women during their 50s and can involve both motor symptoms like increased blinking as well as non-motor symptoms such as eye discomfort and psychiatric issues like anxiety and depression.
  • The research also noted that a significant number of patients experienced the spread of dystonia to other body regions, with various factors such as symptom severity and family history contributing to this spread.
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Objective: Deep brain stimulation (DBS) for Parkinson disease (PD) is traditionally performed with awake intraoperative testing and/or microelectrode recording. Recently, however, the procedure has been increasingly performed under general anesthesia with image-based verification. The authors sought to compare structural and functional networks engaged by awake and asleep PD-DBS of the subthalamic nucleus (STN) and correlate them with clinical outcomes.

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Although essential tremor is common, its underlying pathophysiology remains uncertain, and several hypotheses seek to explain the tremor mechanism. The GABA hypothesis states that disinhibition of deep cerebellar neurons due to reduced GABAergic input from Purkinje cells results in increased pacemaker activity, leading to rhythmic output to the thalamo-cortical circuit and resulting in tremor. However, some neuroimaging, spectroscopy, and pathology studies have not shown a clear or consistent GABA deficiency in essential tremor, and animal models have indicated that large reductions of Purkinje cell inhibition may improve tremor.

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Background: Behavioural sleep problems are common in children with autism spectrum disorder (ASD); however, evidence for the efficacy of behavioural sleep interventions is limited. This study examined the efficacy of a brief behavioural sleep intervention in autistic children. It was hypothesised that the intervention would reduce overall child sleep problems (primary outcome), in addition to improvements in children's social, emotional, cognitive, academic functioning, and quality of life, and parent/caregivers' stress, quality of life, and mental health (secondary outcomes).

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Tremor, the most common movement disorder, may occur in isolation or may co-exist with a variety of other neurologic and movement disorders including parkinsonism, dystonia, and ataxia. When associated with Parkinson's disease, tremor may be present at rest or as an action tremor overlapping in phenomenology with essential tremor. Essential tremor may be associated not only with parkinsonism but other neurological disorders, suggesting the possibility of essential tremor subtypes.

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Background: Patients with essential tremor were initially considered to have isolated tremor, but additional motor and non-motor features have been increasingly recognized. The term "essential tremor plus" was adopted by the Task Force on Tremor of the International Parkinson and Movement Disorder Society to describe essential tremor patients with additional neurologic signs.

Objectives: To characterize essential tremor patients and their phenotypes in a movement disorders clinic population in the context of the new tremor classification.

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Although human speech radiation has been a subject of considerable interest for decades, researchers have not previously measured its directivity over a complete sphere with high spatial and spectral resolution using live phonetically balanced passages. The research reported in this paper addresses this deficiency by employing a multiple-capture transfer function technique and spherical harmonic expansions. The work involved eight subjects and 2522 unique sampling positions over a 1.

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Objective: To examine the impact of COVID-19 restrictions among children with attention-deficit/hyperactivity disorder (ADHD).

Methods: Parents of 213 Australian children (5-17 years) with ADHD completed a survey in May 2020 when COVID-19 restrictions were in place (i.e.

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Article Synopsis
  • The regulation of signaling capacity and the distribution of developmental signals are crucial for developmental responses in plants and animals.
  • Auxin, a key hormone in plants, relies on AUXIN RESPONSE FACTOR (ARF) transcription factors for growth, with class A ARFs acting as activators for auxin-responsive genes.
  • Research shows that class A ARF gene loci remain open for transcription, and specific transcriptional regulators mostly repress these genes, suggesting a system where open chromatin facilitates regulation of auxin signaling throughout plant development.
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