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Article Title: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling
Authors: Jodarski, Duncan, Torres, Gore, Raznahan, and Similuk
Date of Publication: January 7, 2023
“XYY syndrome is a diagnosis that has significant implications on not only the affected individual, but the family as well. It is therefore imperative that HCPs fully understand the range of lived experiences with XYY so that we can better counsel and care for affected individuals and their families.”
When visiting the above linked page, scroll down and you will see the tabs named “Sessions,” “Speakers,” and “Sponsors.” There you can search for sessions by keyword and/or filter them by date, X/Y variation, or target audience. Click/tap on a session for speaker information and a description. Please note that the agenda is still being updated and all agenda information is subject to change.
For those that have registered: from the conference lobby, go to the Sessions tab and bookmark sessions that interest you to build your own custom Agenda! You can do this by clicking the icon. Sessions that you bookmark will be added to the schedule that can be viewed by going to the Agenda tab. Click here for a video tutorial!
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“Across the full XYY group, we find a complex correlation between psychopathology and functioning such that the most severely impacted symptom domains are not necessarily those most predictive of adaptive functioning or caregiver strain. Finally, network modelling suggests 8 main axes of psychopathology in XYY syndrome, with core roles for overall symptom scores, inattention, and social difficulties.”
“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”
Article Title: What’s missing in sex chromosome aneuploidies? Representation and inclusion
Authors: Mehmet, McDonald, Saldarriaga, Pineros-Leano, and Dwyer
Date of Publication: January 2022
“Given that KS/TS happen by chance, theoretically, these rates should be similar across racial/ethnic groups. Namely, the rates of KS/TS should be similar among non-Hispanic Whites and Black, Indigenous, People of Color (BIPOC) communities. Currently, it is unknown to what extent HR-QoL has been examined in BIPOC communities affected by KS/TS. To provide culturally-informed care for all patients with KS/TS, it is critical to understand the experiences of BIPOC communities. We conducted a systematic review of the literature on HR-QoL in KS/TS to examine the extent that BIPOC communities have been included and represented in the literature to date.”
Article Title: Variegation of autism related traits across seven neurogenetic disorders
Authors: Lee, Niu, Zhang, Clasen, Kozel, Smith, Wallace, and Raznahan
Date of Publication: April 7, 2022
“Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs.”
Article Title: Patterns of psychopathology and cognition in sex chromosome aneuploidy
Authors: Rau, Whitman, Schauder, Gogate, Lee, Kenworthy, and Raznahan
Date of Publication: December 15, 2021
“There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.”
Article Title: Recommendations to improve the patient experience and avoid bias when prenatal screening/testing
Authors: Meredith, Brackett, Diaz, Freeman, Huggins, Khan, Leach, Levitz, Michie, Onufer, Skotko, Smith, White, Waller, and Ayers
Date of Publication: October 29, 2022
“While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.”
icon. Sessions that you bookmark will be added to the schedule that can be viewed by going to the Agenda tab.