The Association of Quality of Life with Psychosocial Factors in Adolescents with Tourette Syndrome.

Individuals with Tourette syndrome (TS) have poorer quality of life (QoL) than their peers, yet factors contributing to poor QoL in this population remain unclear. Research to date has predominantly focused on the impact of tics and psychiatric symptoms on QoL in TS samples. The aim of this cross-sectional, multi-informant study was to identify psychosocial variables that may impact adolescent QoL in TS. Thirty-eight adolescents aged 13 to 17 with TS and 28 age-matched controls participated with a caregiver. No group differences were found on QoL, although the TS group reported reduced QoL compared to population normative data. In the TS group, reduced QoL was associated with lower self-esteem, poorer family functioning, higher stress, and greater depression and anxiety; QoL was unrelated to tic severity. In regression analyses, after adjusting for covariates, family functioning was the strongest predictor of QoL. These results emphasize the need to further explore the influence of psychosocial factors, particularly family functioning, on QoL in adolescents with TS.

Dimensional Assessment of Depression and Anxiety in a Clinical Sample of Adults With Chronic Tic Disorder.

OBJECTIVE: Among adults with Tourette syndrome, depression and anxiety symptoms are widely prevalent and consistently associated with poor quality of life. Important knowledge gaps remain regarding mood and anxiety dimensions of the adult Tourette syndrome phenotype. Taking a dimensional approach, this study sought to determine the prevalence, severity, and clinical correlates of depression and anxiety symptoms in a clinical sample of adults with Tourette syndrome and other chronic tic disorders. METHODS: A retrospective chart review was conducted of all adults with a chronic tic disorder presenting to a tertiary care Tourette syndrome clinic between December 2020 and July 2022. Information extracted during chart review included data from scales administered as part of routine care: Quality of Life in Neurological Disorders (Neuro-QoL) Depression Short Form, Neuro-QoL Anxiety Short Form, Adult Attention-Deficit/Hyperactivity Disorder Self-Report Screening Scale, Dimensional Obsessive-Compulsive Scale, and Yale Global Tic Severity Scale. Relationships between variables were examined by conducting between-group, correlation, and multivariable regression analyses. RESULTS: Data from 120 adult patients with a chronic tic disorder (77 men and 43 women) were analyzed. Neuro-QoL Anxiety scores were elevated in 66% of the cohort; Neuro-QoL Depression scores were elevated in 26%. Neuro-QoL Anxiety scores were significantly higher than general population norms, whereas Neuro-QoL Depression scores were not. After adjustment for covariates, depressive and anxiety symptom severity scores were significantly associated with each other and with obsessive-compulsive disorder symptom severity but not with tic severity. Sex-based differences emerged in the analyses. CONCLUSIONS: Among adults with chronic tic disorder, anxiety symptoms were more prevalent and severe than depressive symptoms, co-occurring psychiatric symptoms were more tightly linked with each other than with tic severity, and sex-based differences were evident.

Hematologic abnormalities in Aicardi Goutières Syndrome.

BACKGROUND: Because of the broad clinical spectrum, heritable autoinflammatory diseases present a management and therapeutic challenge. The most common genetic interferonopathy, Aicardi Goutières Syndrome (AGS), is associated with early onset neurologic disability and systemic inflammation. The chronic inflammation of AGS is the result of dysregulation of interferon (IFN) expression by one of nine genes within converging pathways. While each AGS subtype shares common features, distinct patterns of severity and potential for systemic complications amongst the genotypes are emerging. Multilineage cytopenias are a potentially serious, but poorly understood, complication of AGS. As immunomodulatory treatment options are developed, it is important to characterize the role of the disease versus treatment in hematologic abnormalities. This will allow for better understanding and management of cytopenia. METHODS: In total, 142 individuals with molecularly-confirmed AGS were included. Information on genotype, demographics, and all available hematologic laboratory values were collected from existing medical records. As part of a clinical trial, a subset of this cohort (n = 52) were treated with a janus kinase inhibitor (baricitinib), and both pre- and post-treatment values were included. Abnormal values were graded based on Common Terminology Criteria for Adverse Events (CTCAE v5.0), supplemented with grading definitions for thrombocytosis, and were compared across genotypes and baricitinib exposure. RESULTS: In total, 11,184 laboratory values were collected over a median of 2.54 years per subject (range 0-22.68 years). To reduce bias from repeated sampling within a limited timeframe, laboratory results were restricted to the most abnormal value within a month (n = 8485). The most common abnormalities were anemia (noted in 24% of subjects prior to baricitinib exposure), thrombocytopenia (9%), and neutropenia (30%). Neutropenia was most common in the SAMHD1 cohort and increased with baricitinib exposure (38/69 measurements on baricitinib versus 14/121 while not on baricitinib). Having an abnormality prior to treatment was associated with having an abnormality on treatment for neutropenia and thrombocytopenia. CONCLUSION: By collecting available laboratory data throughout the lifespan, we were able to identify novel patterns of hematologic abnormalities in AGS. We found that AGS results in multilineage cytopenias not limited to the neonatal period. Neutropenia, anemia, and thrombocytopenia were common. Moderate-severe graded events of neutropenia, anemia, and leukopenia were more common on baricitinib, but rarely of clinical consequence. Based on these results, we would recommend careful monitoring of hematologic parameters of children affected by AGS throughout the lifespan, especially while on therapy, and consideration of AGS as a potential differential diagnosis in children with neurologic impairment of unclear etiology with hematologic abnormalities. Trial registration ClinicalTrials.gov Identifier: NCT01724580 ClinicalTrials.gov Identifier: NCT03921554.

Cross-disorder comparison of sensory over-responsivity in chronic tic disorders and obsessive-compulsive disorder.

BACKGROUND: Sensory over-responsivity (SOR) refers to excessively intense and/or prolonged behavioral responses to environmental stimuli typically perceived as non-aversive. SOR is prevalent in several neurodevelopmental disorders, including chronic tic disorders (CTDs) and obsessive-compulsive disorder (OCD). Few studies have examined the extent and clinical correlates of SOR across disorders, limiting insights into the phenomenon's transdiagnostic clinical and biological relevance. Such cross-disorder comparisons are of particular interest for CTDs and OCD given their frequent co-occurrence. OBJECTIVE: We sought to compare the magnitude of SOR between adults with CTD and adults with OCD and to identify the clinical factors most strongly associated with SOR across these disorders. METHODS: We enrolled 207 age- and sex-matched participants across four diagnostic categories: CTD without OCD (designated "CTD/OCD-"; n = 37), CTD with OCD ("CTD/OCD+"; n = 32), OCD without tic disorder ("OCD"; n = 69), and healthy controls (n = 69). Participants completed a self-report battery of rating scales assessing SOR (Sensory Gating Inventory, SGI), obsessive-compulsive symptoms (Dimensional Obsessive-Compulsive Scale, DOCS), inattention and hyperactivity (Adult ADHD Self-Report Screening Scale for DSM-5, ASRS-5), anxiety (Generalized Anxiety Disorder-7), and depression (Patient Health Questionnaire-9). CTD participants were also administered the Yale Global Tic Severity Scale (YGTSS). To examine between-group differences in SOR, we compared SGI score across all groups and between pairs of groups. To examine the relationship of SOR with other clinical factors, we performed multivariable linear regression. RESULTS: CTD/OCD-, CTD/OCD+, and OCD participants were 86.7%, 87.6%, and 89.5%, respectively, more likely to have higher SGI total scores than healthy controls. SGI total score did not differ between CTD/OCD-, CTD/OCD+, and OCD groups. In the regression model of log-transformed SGI total score, OCD diagnosis, DOCS score, and ASRS-5 score each contributed significantly to model goodness-of-fit, whereas CTD diagnosis and YGTSS total tic score did not. CONCLUSION: SOR is prevalent in adults with CTD and in adults with OCD but does not significantly differ in magnitude between these disorders. Across CTD, OCD, and healthy control adult populations, SOR is independently associated with both obsessive-compulsive and ADHD symptoms, suggesting a transdiagnostic relationship between these sensory and psychiatric manifestations. Future cross-disorder, longitudinal, and translational research is needed to clarify the role and prognostic import of SOR in CTDs, OCD, and other neurodevelopmental disorders.

Anosognosia and Memory Encoding in Huntington Disease.

BACKGROUND: Anosognosia can manifest as an unawareness of neurobehavioral symptoms in individuals with Huntington disease (HD). Measurement of anosognosia is challenging, but the Anosognosia Scale (AS) represents a brief option with promising findings in small samples. OBJECTIVE: To replicate application of the AS in a larger HD sample than previous studies in order to assess psychometrics and demographic correlates and to investigate the genetic, motor, and neuropsychological correlates of the AS in individuals with HD. METHOD: We retrospectively reviewed the AS ratings of 74 genetically confirmed Huntington gene carriers, nearly all early motor manifest, who had been referred for clinical neuropsychological assessment. Concurrent clinical neurologic examination and neuropsychometric assessment data were compiled, where available (ns = 35-74). The severity of the anosognosia per AS ratings was characterized for the HD sample. RESULTS: The AS ratings did not correlate with demographic variables, genetic markers, or motor dysfunction severity. Correlation analyses revealed that higher AS ratings correlated with worse recognition-discrimination memory performance (r = 0.38, P < 0.05) but not cognitive control on executive functioning performance or on collateral-reported frontal-behavioral symptoms. Higher AS ratings also correlated with fewer patient-reported depressive symptoms (r = -0.38, P < 0.01) and diurnal hypersomnia symptoms (r = -0.44, P < 0.01). CONCLUSION: Anosognosia (per AS) is associated with recognition-discrimination deficits and fewer self-reported neuropsychiatric symptoms in individuals with pre-to-early manifest HD, though not with HD severity per genetic or motor markers, nor to executive dysfunction or collateral-reported frontal-behavioral symptoms.

Spondylodiscitis in children.

Paediatric spondylodiscitis (SD) (discitis) is a rare bacterial infection involving the inter-vertebral disc space and adjacent vertebrae. The non-specific manifestations of SD can lead to delayed diagnosis, which may ultimately result in spinal deformities and even devastating neurological complications. The main purpose of this review is to discuss the epidemiology, clinical, laboratory and radiological features, management and outcome of paediatric SD to help paediatricians recognise and treat this important condition.

Otitis media guidelines for Australian Aboriginal and Torres Strait Islander children: summary of recommendations.

INTRODUCTION: The 2001 Recommendations for clinical care guidelines on the management of otitis media in Aboriginal and Torres Islander populations were revised in 2010. This 2020 update by the Centre of Research Excellence in Ear and Hearing Health of Aboriginal and Torres Strait Islander Children used for the first time the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach. MAIN RECOMMENDATIONS: We performed systematic reviews of evidence across prevention, diagnosis, prognosis and management. We report ten algorithms to guide diagnosis and clinical management of all forms of otitis media. The guidelines include 14 prevention and 37 treatment strategies addressing 191 questions. CHANGES IN MANAGEMENT AS A RESULT OF THE GUIDELINES: A GRADE approach is used. Targeted recommendations for both high and low risk children. New tympanostomy tube otorrhoea section. New Priority 5 for health services: annual and catch-up ear health checks for at-risk children. Antibiotics are strongly recommended for persistent otitis media with effusion in high risk children. Azithromycin is strongly recommended for acute otitis media where adherence is difficult or there is no access to refrigeration. Concurrent audiology and surgical referrals are recommended where delays are likely. Surgical referral is recommended for chronic suppurative otitis media at the time of diagnosis. The use of autoinflation devices is recommended for some children with persistent otitis media with effusion. Definitions for mild (21-30 dB) and moderate (> 30 dB) hearing impairment have been updated. New "OMapp" enables free fast access to the guidelines, plus images, animations, and multiple Aboriginal and Torres Strait Islander language audio translations to aid communication with families.

The ethics of publishing in medical journals.

Ethics has been defined as the way we ought to behave. Medical publishing essentially exists to broadcast current and new medical knowledge to aid in the practice of medicine. In this review article we consider many of the aspects of medical publishing with regard to 'what we ought to do' and, equally, 'what we ought not to do' from the perspective of various ethical frameworks. Although ethics is not the law or a set of rules, nor a code of conduct, an ethical lens can be useful when developing good general guidelines for medical publishing.

What we have learnt about trauma, loss and grief for children in response to COVID-19.

The disruption of daily life resulting from COVID-19 and its precautions has taken an enormous emotional toll on children and families. The consequences of disrupted schooling, changed social interactions and altered family dynamics has had some unanticipated positives such as improved on-line educational upskilling and personal resilience. However, the potential longer term implications for educational outcomes, economic impacts of job loss and prolonged financial insecurity, physical wellbeing and mental health remain unclear. The potential for post-traumatic stress disorders from what is experienced by children with imposed isolation from friends and extended family, domestic violence and death of relatives remains concerning. Confronting images and stories relayed through social media and the popular press will challenge children's views of safety, security, trust and potentially rob them of much of the innocence of youth. In an overwhelming global response to the "adult" problems of the COVID-19 pandemic, this article reflects on the consequences of trauma, loss and grief through the perspective of children and how they may alter their view of the world.

A comparative evaluation of telehealth and direct assessment when screening for spasticity in residents of two long-term care facilities.

OBJECTIVE: To evaluate the performance of telehealth as a screening tool for spasticity compared to direct patient assessment in the long-term care setting. DESIGN: Cross-sectional, observational study. SETTING: Two long-term care facilities: a 140-bed veterans' home and a 44-bed state home for individuals with intellectual and developmental disabilities. SUBJECTS: Sixty-one adult residents of two long-term care facilities (aged 70.1 ± 16.2 years) were included in this analysis. Spasticity was identified in 43% of subjects (Modified Ashworth Scale rating mode = 2). Contributing diagnoses included traumatic brain injury, spinal cord injury, birth trauma, stroke, cerebral palsy, and multiple sclerosis. MAIN MEASURES: Movement disorders neurologists conducted in-person examinations to determine whether spasticity was present (reference standard) and also evaluated subjects with spasticity using the Modified Ashworth Scale. Telehealth screening examinations, facilitated by a bedside nurse, were conducted remotely by two teleneurologists using a three-question screening tool. Telehealth screening determinations of spasticity were compared to the reference standard determination to calculate sensitivity, specificity, and the area under the curve (AUC) in receiver operating characteristics. Teleneurologist agreement was evaluated using Cohen's kappa. RESULTS: Teleneurologist 1 had a specificity of 89% and sensitivity of 65% to identify the likely presence of spasticity (n = 61; AUC = 0.770). Teleneurologist 2 showed 100% specificity and 82% sensitivity (n = 16; AUC = 0.909). There was almost perfect agreement between the two examiners at 94% (kappa = 0.875, 95% CI: 0.640-1.000). CONCLUSION: Telehealth may provide a useful, efficient method of identifying residents of long-term care facilities that likely need referral for spasticity evaluation.

Under-explored 'third dimension' of medical ethics.

In this paper, we nominally propose three dimensions of medical ethics, using the term medical ethics rather than clinical ethics to focus on the professional obligation of paediatricians in and beyond the ward and clinic. We argue there exists a duty to children along the continuum of all three dimensions. In this taxonomy, the first dimension is the obligation of paediatricians to serve the best interests of their individual patients. The second dimension involves public health aspects and communitarian concerns with a focus on utilitarian principles, such as cost-effectiveness and just resource allocation. The third dimension of medical ethics is the obligation we hold in trust to support and respect the well-being of future generations. As our ecological footprint, characterised by climate change and biodiversity collapse, will adversely affect the health of today's children and those yet unborn, paediatricians have a contemporaneous moral obligation to speak out and act as both advocates and activists.

Ethical considerations regarding the effects of climate change and planetary health on children.

Climate change represents one of the most significant health challenges and global inequities of our generation. As a 'wicked' problem, climate change imposes an involuntary exposure on vulnerable individuals and societies that is regressive in its nature, with those least responsible for destroying planetary health at greatest risk of suffering the direct and indirect health consequences of unabated warming of the planet. The current and future generations of children are the most vulnerable population to suffer the effects of climate change. By 2030, there will be 131 000 additional child deaths each year if climate mitigation strategies are not enacted, driven by the synergy of an increasing burden of infectious diseases, food insecurity and political instability. Over half a billion of the world's children live in areas vulnerable to extreme weather events, and there is a pressing risk that our current lack of action to mitigate and adapt to climate change will result in today's children, and future generations, being the first to have poorer physical and mental health than previous generations - creating a significant intergenerational ethical dilemma. Child health-care professionals need to advocate for policies to address climate change that consider the complex health, planetary and ethical considerations necessary to solve the most significant risk to our children's health today. Without immediate action, the health of the current and future generations of children is perilous.

Lifetime neuropsychiatric symptoms in Huntington's disease: Implications for psychiatric nursing.

Neuropsychiatric manifestations of Huntington's disease (HD) can present years before motor symptoms. Nurses with specialized training provide superior care for HD patients, but HD exposure in nursing education is limited. Here we aimed to describe the historical neuropsychiatric burden in 50 HD patients and discuss implications for psychiatric nurses. Fifty patients with HD were assessed by a board-certified psychiatrist and completed surveys about symptoms, social history, medication use, and quality of life outcomes. Descriptive statistics were used to summarize patient characteristics, and correlation analyses assessed the relationships between neuropsychiatric symptoms and quality of life outcomes. Most patients (72%) reported a history of neuropsychiatric symptoms prior to their HD diagnosis. Prodromal anger/irritability was most common (52%), though few patients received treatment for this. Anxiety was the most common current symptom (78%), yet 40% of patients had never been prescribed an SSRI. Anxiety was associated with poorer patient-reported quality of life outcomes (p < .01). HD patients in this sample experienced frequent, early-onset neuropsychiatric symptoms. In coming years, psychiatric nurses in community settings will be more likely to encounter gene-positive HD patients before they develop motor symptoms. Psychiatric nurses can address identified gaps through enhanced screening and encouraging early intervention in those at risk.

Delayed versus Immediate Cord Clamping in Preterm Infants.

BACKGROUND: The preferred timing of umbilical-cord clamping in preterm infants is unclear. METHODS: We randomly assigned fetuses from women who were expected to deliver before 30 weeks of gestation to either immediate clamping of the umbilical cord (≤10 seconds after delivery) or delayed clamping (≥60 seconds after delivery). The primary composite outcome was death or major morbidity (defined as severe brain injury on postnatal ultrasonography, severe retinopathy of prematurity, necrotizing enterocolitis, or late-onset sepsis) by 36 weeks of postmenstrual age. Analyses were performed on an intention-to-treat basis, accounting for multiple births. RESULTS: Of 1634 fetuses that underwent randomization, 1566 were born alive before 30 weeks of gestation; of these, 782 were assigned to immediate cord clamping and 784 to delayed cord clamping. The median time between delivery and cord clamping was 5 seconds and 60 seconds in the respective groups. Complete data on the primary outcome were available for 1497 infants (95.6%). There was no significant difference in the incidence of the primary outcome between infants assigned to delayed clamping (37.0%) and those assigned to immediate clamping (37.2%) (relative risk, 1.00; 95% confidence interval, 0.88 to 1.13; P=0.96). The mortality was 6.4% in the delayed-clamping group and 9.0% in the immediate-clamping group (P=0.03 in unadjusted analyses; P=0.39 after post hoc adjustment for multiple secondary outcomes). There were no significant differences between the two groups in the incidences of chronic lung disease or other major morbidities. CONCLUSIONS: Among preterm infants, delayed cord clamping did not result in a lower incidence of the combined outcome of death or major morbidity at 36 weeks of gestation than immediate cord clamping. (Funded by the Australian National Health and Medical Research Council [NHMRC] and the NHMRC Clinical Trials Centre; APTS Australian and New Zealand Clinical Trials Registry number, ACTRN12610000633088 .).

Consequences of physical distancing emanating from the COVID-19 pandemic: An Australian perspective.

The sobering reality of the COVID-19 pandemic is that it has brought people together at home at a time when we want them apart in the community. This will bring both benefits and challenges. It will affect people differently based upon their age, health status, resilience, family support structures, and socio-economic background. This article will assess the impact in high income countries like Australia, where the initial wave of infection placed the elderly at the greatest risk of death whilst the protective measures of physical distancing, self-isolation, increased awareness of hygiene practices, and school closures with distance learning has had considerable impact on children and families acutely and may have ramifications for years to come.

Polio - The old foe and new challenges: An update for clinicians.

The Global Polio Eradication Initiative since 1988 has seen the impact of poliovirus decline from frequent global epidemics in the early 1900s to being now only endemic in two countries today. Global vaccination programmes and surveillance for the disease have resulted in the landmark eradication of two of the three poliovirus strains in the last 5 years. Australia continues to contribute to global surveillance efforts for the disease via the Australian Paediatric Surveillance Unit and the Paediatric Active Enhanced Disease Surveillance Network, which aim to detect cases of acute flaccid paralysis in children, the key clinical feature of poliomyelitis. Today, in the era of the polio 'endgame', there is growing recognition of non-polio enteroviruses causing paralytic diseases that are polio-like, particularly in children, with an increased need for awareness and vigilance by paediatric clinicians.

Latent tuberculosis may be missed by current screening practices: Analysis of interferon-gamma release assay results from a paediatric refugee clinic.

AIMS: (i) To determine the prevalence of latent tuberculosis infection (LTBI) and characteristics associated with LTBI in children attending a paediatric refugee clinic and (ii) to determine whether current New South Wales (NSW) Health screening practices could miss LTBI cases. METHODS: This was a retrospective analysis of tuberculosis (TB) screening data from refugee and asylum seeker children who attended a refugee clinic in a tertiary children's hospital during 2014 and 2015. We determined associations between LTBI and child characteristics at 5% significance levels. RESULTS: Of 358 children attending the clinic, 235 children (66%) received interferon-gamma release assay (IGRA) testing, of whom 28 (11.9%) had positive results. Of the 28 with positive IGRAs, 12 (42.9%) would have been missed using NSW Health screening guidelines: two because they were younger than 2 years old, one who was born in Australia and 10 because they were not born in high TB incidence countries. IGRA results were not significantly associated with any of the child characteristics examined, including age, gender, travel through transit countries, boat versus plane arrival into Australia, whether the child had been in a detention centre or TB incidence in the source country. CONCLUSIONS: We identified 12 children with LTBI who would have been missed using current NSW Health Department screening practices. These children are at risk of progression to active disease, particularly the two aged younger than 2 years old. We recommend universal screening.

Confined Thalamic Deep Brain Stimulation in Refractory Essential Tremor.

BACKGROUND: Thalamic ventral intermediate nucleus (VIM) deep brain stimulation (DBS) is an effective therapy for medication-refractory essential tremor (ET). However, 13-40% of patients with an initially robust tremor efficacy lose this benefit over time despite reprogramming attempts. At our institution, a cohort of ET patients with VIM DBS underwent implantation of a second anterior (ventralis oralis anterior; VOA) DBS lead to permit "confined stimulation." We sought to assess whether confined stimulation conferred additional tremor capture compared to VIM or VOA stimulation alone. METHODS: Seven patients participated in a protocol-based programming session during which a video-recorded Fahn-Tolosa-Marin Part A (FTM-A) tremor rating scale was used in the following 4 DBS states: off stimulation, VIM stimulation alone, VOA stimulation alone, and dual lead (confined) stimulation. RESULTS: The average (SD) baseline FTM-A off score was 17.6 (4.0). VIM stimulation alone lowered the average FTM-A total score to 6.9 (4.0). Confined stimulation further attenuated the tremor, reducing the total score to 5.7 (2.8). CONCLUSIONS: Confined thalamic DBS can provide additional symptomatic benefits in patients with unsatisfactory tremor control from VIM or VOA stimulation alone.