Anxiety Disorders in Athletes.

Athletes and non-athletes experience many anxiety-related symptoms and disorders at comparable rates. Contributory factors may include pressure to perform, public scrutiny, sporting career dissatisfaction, injury, and harassment and abuse in sport. Anxiety may negatively impact sport performance.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.

Methods: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.

Results: Biallelic variants in CRELD1 were found in 18 participants from 14 families.

Surveillance of athlete mental health symptoms and disorders: a supplement to the International Olympic Committee's consensus statement on injury and illness surveillance.

In 2019, the International Olympic Committee (IOC) published a consensus statement outlining the principles for recording and reporting injury and illness in elite sport. The authors encouraged sport federations to adapt the framework to their sport-specific context. Since this publication, several sports have published extensions to the IOC consensus statement.

Structural and social determinants of mental health inequities among collegiate athletes during the COVID-19 pandemic.

Objectives: To characterise psychological distress during the COVID-19 pandemic among collegiate athletes and assess whether racial and ethnic differences in psychological distress are attenuated when accounting for inequitable exposure to structural and social determinants of health.

Methods: Participants were collegiate athletes on teams competing in the National Collegiate Athletic Association (n=24 246). An electronic questionnaire was distributed by email, open for completion 6 October to 2 November 2020.

Improving inclusion and well-being of trans and gender nonconforming collegiate student-athletes: foundational concepts from the National Collegiate Athletic Association Summit on Gender Identity and Student-Athlete Participation.

The National Collegiate Athletic Association (NCAA) Summit on Gender Identity and Student-Athlete Participation was convened to identify institutional/athletic department strategies that may support the well-being of trans and gender nonconforming (TGNC) collegiate student-athletes in the USA. The Summit's purview did not include policy-level changes to eligibility rules. A modified Delphi consensus process was used to identify strategies for supporting collegiate TGNC student-athlete well-being.

Addressing mental health needs of NCAA student-athletes of colour: foundational concepts from the NCAA Summit on Diverse Student-Athlete Mental Health and Well-Being.

We sought to identify concepts that may facilitate National Collegiate Athletic Association efforts to assist member institutions in addressing the mental health needs of student-athletes of colour. A two-step process was followed to generate and refine concepts, guided by Delphi methodology. First, a scoping review was conducted, including original peer-reviewed research articles that quantified or qualitatively described determinant(s) of racial or ethnic differences in athlete mental health or mental healthcare.

Differences in career longevity before and after implementation of the Women's Tennis Association Tour Age Eligibility Rule and Player Development Programmes: a 25-year study.

Objectives: To assess differences in career longevity, as a potential marker of athlete well-being, before and after the 1995 implementation of the Women's Tennis Association (WTA) Age Eligibility Rule (AER) and Player Development Programmes (PDP), which focused on organisational, physical and psychosocial education, skill building and support for adolescent athletes (≤17 years).

Methods: Career longevity data were collected through 2019 on adolescent players who began professional tournament play between 1970 and 2014 and reached a WTA singles ranking of 1-150 for a minimum of 1 week during their careers. Players were separated into pre-AER/PDP and post-AER/PDP groups, consisting of those who played their first professional events (FPE) before or after 1 January 1995.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell growth and survival by targeting substrates including CYCLIN E1/2 and NOTCH for degradation via the ubiquitin proteasome system. We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants associated with a neurodevelopmental syndrome.

Do varsity college athletes have a greater likelihood of risky alcohol and cannabis use than non-athletes? Results from a National Survey in Brazil.

Objective: We examined the prevalence of risky alcohol and cannabis use among Brazilian varsity college athletes and whether this group had a greater likelihood of risky use than non-athletes.

Methods: In 2009, Brazilian college students (n=12,711) were recruited for a national stratified random survey. Their sociodemographic characteristics, mental health, substance use, and participation in varsity sports were assessed.

Participating in Two Video Concussion Education Programs Sequentially Improves Concussion-Reporting Intention.

Undiagnosed concussions increase the risk of additional concussion and persistent symptoms from concussion. Because there are no reliable objective markers of concussion, self-reporting of subjective and non-visible symptoms are critical to ensuring proper concussion management. For this reason, educational interventions target concussion reporting, but the majority of studies have examined the efficacy of single educational interventions or compared interventions to one another.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented with global developmental delay (GDD), dysmorphic features, ophthalmologic abnormalities, and neurological features. To assess the nature of these variants, functional studies were performed in Drosophila.

Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.

We present a 53-year-old male with nonketotic hyperglycinemia (NKH) who presented in decompensated state to our university hospital several months prior to a primary diagnosis of multifocal pneumonia accompanied by reports of seizure-like activity, altered mental status, tremors, and fever. He was initially diagnosed with NKH in his preschool years, over 40 years previously, along with his younger sister. At that time, he had developmental and physical delays (which his sister also experienced).

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene.

Methods: Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins.

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.

Background/aims: Neonatal onset Urea cycle disorders (UCDs) can be life threatening with severe hyperammonemia and poor neurological outcomes. Glycerol phenylbutyrate (GPB) is safe and effective in reducing ammonia levels in patients with UCD above 2 months of age. This study assesses safety, ammonia control and pharmacokinetics (PK) of GPB in UCD patients below 2 months of age.

Tennis-specific extension of the International Olympic Committee consensus statement: methods for recording and reporting of epidemiological data on injury and illness in sport 2020.

The IOC has proposed standard methods for recording and reporting of data for injury and illness in sport. The IOC consensus statement authors anticipated that sport-specific statements would provide further recommendations. This statement is the tennis-specific extension of the partner IOC statement.

Improving Concussion Education: Consensus From the NCAA-Department of Defense Mind Matters Research & Education Grand Challenge.

Early disclosure of possible concussive symptoms has the potential to improve concussion-related clinical outcomes. The objective of the present consensus process was to provide useful and feasible recommendations for collegiate athletic departments and military service academy leaders about how to increase concussion symptom disclosure in their setting. Consensus was obtained using a modified Delphi process.

Mental health management of elite athletes during COVID-19: a narrative review and recommendations.

Elite athletes suffer many mental health symptoms and disorders at rates equivalent to or exceeding those of the general population. COVID-19 has created new strains on elite athletes, thus potentially increasing their vulnerability to mental health symptoms. This manuscript serves as a narrative review of the impact of the pandemic on management of those symptoms in elite athletes and ensuing recommendations to guide that management.

International Olympic Committee (IOC) Sport Mental Health Assessment Tool 1 (SMHAT-1) and Sport Mental Health Recognition Tool 1 (SMHRT-1): towards better support of athletes' mental health.

Objectives: To develop an assessment and recognition tool to identify elite athletes at risk for mental health symptoms and disorders.

Methods: We conducted narrative and systematic reviews about mental health symptoms and disorders in active and former elite athletes. The views of active and former elite athletes (N=360) on mental health symptoms in elite sports were retrieved through an electronic questionnaire.

Improving concussion education: consensus from the NCAA-Department of Defense Mind Matters Research & Education Grand Challenge.

Early disclosure of possible concussive symptoms has the potential to improve concussion-related clinical outcomes. The objective of the present consensus process was to provide useful and feasible recommendations for collegiate athletic departments and military service academy leaders about how to increase concussion symptom disclosure in their setting. Consensus was obtained using a modified Delphi process.

Clinical manifestations and management of fatty acid oxidation disorders.

Fatty acid oxidation disorders (FAOD) are a group of rare, autosomal recessive, metabolic disorders caused by variants of the genes for the enzymes and proteins involved in the transport and metabolism of fatty acids in the mitochondria. Those affected by FAOD are unable to convert fatty acids into tricarboxylic acid cycle intermediates such as acetyl-coenzyme A, resulting in decreased adenosine triphosphate and glucose for use as energy in a variety of high-energy-requiring organ systems. Signs and symptoms may manifest in infants but often also appear in adolescents or adults during times of increased metabolic demand, such as fasting, physiologic stress, and prolonged exercise.

Consensus Recommendations on the Prehospital Care of the Injured Athlete With a Suspected Catastrophic Cervical Spine Injury.

Introduction: Sports participation is among the leading causes of catastrophic cervical spine injury (CSI) in the United States. Appropriate prehospital care for athletes with suspected CSIs should be available at all levels of sport. The goal of this project was to develop a set of best-practice recommendations appropriate for athletic trainers, emergency responders, sports medicine and emergency physicians, and others engaged in caring for athletes with suspected CSIs.