Publications by authors named "Scharf J"

Objectives: To analyze sex differences in outcomes in Tourette syndrome (TS) and Persistent Motor or Vocal tic disorders (PMVT) in the Tourette Association of America International Consortium for Genetics (TAAICG) dataset.

Methods: The relationship between sex and clinical measures was explored in 2,403 participants (N = 2,109 with TS; N = 294 with PMVT) from the TAAICG dataset using generalized estimating equation regression models, and adjusted for age and family relationships.

Results: Female (vs male) participants with TS (25.

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The detailed sonographic assessment of the fetal neuroanatomy plays a crucial role in prenatal diagnosis, providing valuable insights into timely, well-coordinated fetal brain development and detecting even subtle anomalies that may impact neurodevelopmental outcomes. With recent advancements in artificial intelligence (AI) in general and medical imaging in particular, there has been growing interest in leveraging AI techniques to enhance the accuracy, efficiency, and clinical utility of fetal neurosonography. The paramount objective of this focusing review is to discuss the latest developments in AI applications in this field, focusing on image analysis, the automation of measurements, prediction models of neurodevelopmental outcomes, visualization techniques, and their integration into clinical routine.

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Background: The Adolescent Brain Cognitive Development (ABCD) study is a longitudinal study of US adolescents with a wide breadth of psychiatric, neuroimaging and genetic data that can be leveraged to better understand psychiatric diseases. The reliability and validity of the psychiatric data collected have not yet been examined. This study aims to explore and optimize the reliability/validity of psychiatric diagnostic constructs in the ABCD study.

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Background: As an indigestible component of human breast milk, Human Milk Oligosaccharides (HMOs) play an important role as a substrate for the establishing microbiome of the newborn. They have further been shown to have beneficial effects on the immune system, lung and brain development. For preterm infants HMO composition of human breast milk may be of particular relevance since the establishment of a healthy microbiome is challenged by multiple disruptive factors associated with preterm birth, such as cesarean section, hospital environment and perinatal antibiotic exposure.

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Tics are a common feature of early-onset neurodevelopmental disorders, characterized by involuntary and repetitive movements or sounds. Despite affecting up to 2% of children and having a genetic contribution, the underlying causes remain poorly understood. In this study, we leverage dense phenotype information to identify features (i.

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Background: Prenatal echocardiographic assessment of fetal cardiac function has become increasingly important. Fetal two-dimensional speckle-tracking echocardiography (2D-STE) allows the determination of global and segmental functional cardiac parameters. Prenatal diagnostics is relying increasingly on artificial intelligence, whose algorithms transform the way clinicians use ultrasound in their daily workflow.

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Article Synopsis
  • Obsessive-compulsive disorder (OCD) affects about 1% of people and has a strong genetic component, but previous studies have not fully explained its genetic causes or biological mechanisms.
  • A large genome-wide association study (GWAS) analyzed data from over 53,000 OCD cases and over 2 million control participants, identifying 30 significant genetic markers related to OCD and suggesting a 6.7% heritability from SNPs.
  • The research also found 249 candidate risk genes linked to OCD, particularly in specific brain regions, and showed genetic correlations with various psychiatric disorders, laying the groundwork for further studies and potential treatments.
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Background: Functional tic disorders are among the least common functional movement disorders, but their prevalence rose during the coronavirus disease 2019 (COVID-19) pandemic. Although female adolescents develop functional neurological disorders at higher rates than males, investigations into sexual orientation and gender identity (SOGI) status of these patients are limited.

Methods: We completed a retrospective, cross-sectional time series examining the incidence of new-onset functional tic disorders in youth presenting to the Massachusetts General Hospital Movement Disorder clinics before and during the COVID-19 pandemic.

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Background: To examine the association between race, ethnicity, and parental educational attainment on tic-related outcomes among Tourette Syndrome (TS) participants in the Tourette Association of America International Consortium for Genetics (TAAICG) database.

Methods: 723 participants in the TAAICG dataset aged ≤21 years were included. The relationships between tic-related outcomes and race and ethnicity were examined using linear and logistic regressions.

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Background And Objective: Tourette Syndrome (TS) and Persistent Motor or Vocal Tic Disorders (PMVT) are more prevalent in males (vs. females). Females with TS may have a delay in diagnosis, and more complex tic features (vs.

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Background: Universities increasingly offer mindfulness-based programs (MBPs) to improve student health and reduce their impact on overburdened psychological services. It is critical for evidence-based policy to determine for what health outcomes mindfulness programs are effective and under what conditions. Objectives were to: (a) perform a comprehensive analysis of the effects of mindfulness interventions on physical, mental, and behavioral health outcomes in college undergraduate students, and (b) examine moderators of intervention effects to identify factors that may help improve existing university mindfulness programs and guide the design of new programs.

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Article Synopsis
  • Telehealth and telemedicine have rapidly expanded during the COVID-19 pandemic, enhancing patient access to care, especially for those far from medical facilities.
  • Clinicians in behavioral neurology & neuropsychiatry at Massachusetts General Hospital (MGH) have begun using telemedicine for cognitive exams, which were traditionally done in person, outlining their methods and experiences.
  • The article discusses the goals, benefits, and limitations of telemedicine exams, highlighting issues such as technology access for patients, limitations on clinician technology, and the need for in-person assessments when necessary.
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(1) Objective: We aimed to evaluate the accuracy and efficacy of AI-assisted biometric measurements of the fetal central nervous system (CNS) by comparing two semiautomatic postprocessing tools. We further aimed to discuss the additional value of semiautomatically generated sagittal and coronal planes of the CNS. (2) Methods: Three-dimensional (3D) volumes were analyzed with two semiautomatic software tools, 5DCNS+™ and SonoCNS™.

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Gilles de la Tourette syndrome (GTS) is a neuropsychiatric movement disorder with reported abnormalities in various neurotransmitter systems. Considering the integral role of iron in neurotransmitter synthesis and transport, it is hypothesized that iron exhibits a role in GTS pathophysiology. As a surrogate measure of brain iron, quantitative susceptibility mapping (QSM) was performed in 28 patients with GTS and 26 matched controls.

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Gilles de la Tourette syndrome (GTS) is a neuropsychiatric movement disorder with reported abnormalities in various neurotransmitter systems. Considering the integral role of iron in neurotransmitter synthesis and transport, it is hypothesized that iron exhibits a role in GTS pathophysiology. As a surrogate measure of brain iron, quantitative susceptibility mapping (QSM) was performed in 28 patients with GTS and 26 matched controls.

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(1) Objectives: In utero functional cardiac assessments using echocardiography have become increasingly important. The myocardial performance index (MPI, Tei index) is currently used to evaluate fetal cardiac anatomy, hemodynamics and function. An ultrasound examination is highly examiner-dependent, and training is of enormous significance in terms of proper application and subsequent interpretation.

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Objective: To assess the performance of fetal intelligent navigation echocardiography (FINE, 5D Heart™) for automated volumetric investigation of the fetal heart in twin pregnancies.

Methods: Three hundred twenty-eight twin fetuses underwent fetal echocardiography in the second and third trimesters. Spatiotemporal image correlation (STIC) volumes were obtained for a volumetric investigation.

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Objective: To inform the development of a combined sleep and mind-body integrative health (MBIH) intervention, we explored urban adolescents' sleep experiences and perceptions of MBIH techniques.

Methods: We conducted eight focus groups with school-based health center patients in New York City, exploring sleep experiences; mindfulness, body awareness, tapping, acupressure, and self-hypnosis; and intervention delivery preferences. We recorded, transcribed, and analyzed the discussions applying methods from grounded theory.

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Importance: Tics are a common feature of early-onset neurodevelopmental disorders, characterized by involuntary and repetitive movements or sounds. Despite affecting up to 2% of young children and having a genetic contribution, the underlying causes remain poorly understood, likely due to the complex phenotypic and genetic heterogeneity among affected individuals.

Objective: In this study, we leverage dense phenotype information from electronic health records to identify the disease features associated with tic disorders within the context of a clinical biobank.

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Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date.

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Article Synopsis
  • Tourette syndrome (TS) is a neurodevelopmental disorder that typically begins in childhood, characterized by persistent motor and vocal tics lasting over a year.
  • A genome-wide meta-analysis was conducted with a total of 6,133 TS individuals and 13,565 controls, revealing a significant genetic locus on chromosome 5q15 linked to the NR2F1 gene.
  • The study found connections between genetic markers and brain tissue, particularly implicating brain volume differences in areas such as the thalamus and putamen, paving the way for further research into TS neurobiology.
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Research partnerships between institutions in the Global North and institutions in the Global South have many potential benefits, including sharing of knowledge and resources. However, such partnerships are traditionally exploitative to varying degrees. In order to promote equity in South-North research partnerships, it is necessary to learn from the experiences of researchers collaborating internationally.

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Childhood adversity is associated with the development or expression of many neuropsychiatric disorders, including those with strong genetic underpinnings. Despite reported associations between perceived stress and tic severity, the relationship between potentially traumatic events in childhood and Tourette Syndrome (TS), a highly heritable neuropsychiatric disorder, is unknown. This study aimed to assess whether exposure to eight categories of adverse childhood experiences (ACEs) is associated with TS severity and impairment, and whether TS genetic risk modifies this association.

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