The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.

Objectives: For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE).

Web-Based Intervention (SunnysideFlex) to Promote Resilience to Posttraumatic Stress Disorder Symptoms During Pregnancy: Development and Pilot Study.

Background: Approximately 4% to 8% of pregnant individuals meet the criteria for current posttraumatic stress disorder (PTSD), a known risk factor for a multitude of adverse maternal and child health outcomes. However, PTSD is rarely detected or treated in obstetric settings. Moreover, available prenatal PTSD treatments require in-person services that are often inaccessible due to barriers to care.

Assessing Communication Impairments in a Rare Neurodevelopmental Disorder: The Clinical Trials Readiness Study.

Background And Objectives: -related disorders (-RDs) entail severe impairments in multiple domains that could serve as nonseizure outcomes in clinical trials. This study evaluated the fitness for purpose of several clinical instruments with both standardized and alternative scoring and with some measures used out of their intended age range for assessing communication in -affected participants.

Methods: Parents of -affected children were recruited through FamilieSCN2A Foundation outreach for a combined cross-sectional and longitudinal study.

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder.

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness. The purpose of this pilot study was to examine and compare the initial psychometric properties of a series of commonly used standardized and norm-referenced measures of cognition and adaptive functioning as well as alternative measures of neurobehavioral functioning designed to capture responsivity (i.e.

Empirically derived symptom profiles in adults with attention-Deficit/hyperactivity disorder: An unsupervised machine learning approach.

Background: Attention-deficit/hyperactivity disorder (ADHD) is associated with various cognitive, behavioral, and mood symptoms that complicate diagnosis and treatment. The heterogeneity of these symptoms may also vary depending on certain sociodemographic factors. It is therefore important to establish more homogenous symptom profiles in patients with ADHD and determine their association with the patient's sociodemographic makeup.

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel Nav1.2 are rare, with clinically heterogeneous expressions that include epilepsy, autism and multiple severe to profound impairments and other conditions. To advance understanding of the clinical phenotypes and their relationship to channel function, 81 patients (36 female, 44%, median age 5.

Negative urgency, PTSD symptoms, and alcohol risk in college students.

Theoretical models of trauma and alcohol use suggest that trauma-exposed individuals with higher levels of PTSD symptoms are at increased risk of problematic and coping-oriented alcohol use to alleviate unwanted internal states. The goal of the current study was to evaluate whether these associations are enhanced among young adults who report engaging in impulsive behavior in the context of negative affect (i.e.

Trauma and alcohol characteristics related to high intensity binge drinking during college.

High intensity (HI) binge drinking has emerged as a high-risk drinking phenotype in young adult drinkers, yet few studies have evaluated clinically meaningful correlates of HI binge drinking among young adults at risk for co-occurring psychopathologies, such as interpersonal trauma-exposed drinkers. The present study compared three groups (i.e.

The Influences of Posttraumatic Stress Disorder and Distress Tolerance on Trauma and Alcohol Cue Reactivity in a Sample of Trauma-Exposed College Students.

Objective: Models of comorbid posttraumatic stress disorder (PTSD) and alcohol use disorder (AUD) often emphasize negative reinforcement drinking (i.e., drinking to reduce negative affect) as a key etiological and maintenance factor.

Negative affect and alcohol craving in trauma-exposed young adult drinkers.

Background: Clinical research indicates that successful posttraumatic stress disorder (PTSD) treatment does not lead to improvements in alcohol use outcomes in comorbid PTSD and alcohol use disorder (AUD). Emerging theory suggests that treating PTSD may not disrupt an association between negative affect and alcohol craving, which underlies negative reinforcement drinking. The goal of the current study was to determine the respective influences of PTSD symptoms, coping motives, and negative affect on trauma and alcohol cue reactivity to inform theoretical models of co-occurring PTSD and AUD.

Cardiovascular risk as a moderator of associations among anxiety sensitivity, distress tolerance, PTSD and depression symptoms among trauma-exposed firefighters.

Background: Firefighters experience frequent and severe trauma exposure, which places them at elevated risk for posttraumatic stress disorder (PTSD) and major depression. Cardiovascular issues may exacerbate the effects of mental health risk factors, such as anxiety sensitivity (AS) and distress tolerance (DT), on PTSD and depression. The current study investigated cardiovascular risk as a moderator of associations between risk factors (AS and DT) and psychiatric symptoms (PTSD and depression) among firefighters.

Lifetime trauma endorsement, posttraumatic stress disorder, and alcohol dependence as a function of sexual minority status.

Objective: Posttraumatic stress disorder (PTSD) and alcohol use disorder (AUD) frequently co-occur, with elevated rates of both disorders in lesbian, gay, or bisexual (LGB) samples. Few studies have compared the strength of PTSD-AUD associations between LGB and heterosexual individuals or evaluated the role of nontraumatic LGB discrimination in these relationships among sexual minorities.

Method: The current study utilized nationally representative epidemiological data ( = 29,646) to (a) examine whether associations between lifetime trauma endorsement/PTSD and lifetime alcohol dependence (AD) differ as a function of sexual minority status and (b) evaluate the role of LGB-specific discrimination in trauma/PTSD and AD associations among LGB individuals.

Posttraumatic stress disorder symptoms, relationship quality, and risky alcohol use among trauma-exposed students.

Individuals with posttraumatic stress disorder (PTSD) are at increased risk for alcohol use disorder (AUD), in part due to the use of alcohol as a coping strategy. High quality romantic relationships can buffer individuals against risk for psychopathology; however, no studies have evaluated romantic relationship quality in risk for PTSD-AUD in non-clinical samples. The current study examined the main and interactive effects of PTSD symptoms and romantic relationship quality on alcohol consumption (i.