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Unsettling the Homestead is a reflection on an art exhibit by the same name, showcased at Crossroads Gallery in April 2017. The exhibit investigated settler histories of the Stewiacke Valley by weaving personal stories, ancestral memories, and Indigenous histories into a multi-media installation. Unsettling the Homestead invited visitors to a recreated East Coast kitchen to step into the history of one settler family’s farm on the land known as Sipekne’katik, Mi’kma’ki. Often, settler genealogy is void of the histories of displacement and violence against Indigenous nations. This exhibit aimed to unsettle notions of the homestead by investigating and critiquing the personal positions within these narratives. By utilizing modern multi-media and traditional English art forms, Unsettling the Homestead braided stories and experiences from multiple generations to critique our ideas of what it means to clear land, homestead, and settle.

Background: Individuals experiencing homelessness have higher rates of cardiovascular disease than housed populations. Understanding cardiovascular health among unhoused individuals could inform health promoting programming and policies; however, this population is often difficult to reach and understudied. Methods: We partnered with Homeward—a regional coordinating agency for homelessness services—to assess cardiovascular health (CVH) via their semi-annual point-in-time (PIT) count. The PIT is a census of individuals experiencing homelessness in shelters and on the streets within the regional catchment on a pre-designated night. Trained staff administered a 10-minute electronic survey, which captured demographic information and cardiovascular health domains modeled after the American Heart Association’s “Life’s Essential 8”. Considering limited time and context, we used a pragmatic approach to define four behavioral health factors (sleep, food insecurity, physical activity, and smoking) and four self-reported health conditions (overweight/obesity, prediabetes/diabetes, high blood pressure, and high cholesterol). Each component earned 1 point for positive attributes (e.g., adequate sleep) or 0 for negative attributes (e.g., having high blood pressure). Components were summed to a score with a range of 0-8. We also assessed stress to create a broader measure ranging from 0-9 (with low stress earning an additional point). We performed a multivariable linear regression to understand correlates of cardiovascular health among individuals experiencing homelessness. Results: The PIT included 336 unhoused individuals currently sleeping in shelters or outdoors. The mean score for the 8-point measurement was 4.74 (SD=1.62), and the mean score for the 9-point measurement was 5.03 (SD=1.78). Neither the 8- nor 9-point score differed by gender, education, veteran status, length of homelessness, where the individual slept the night prior to the PIT count, or eviction history. In the adjusted model, increasing age was associated with a half point decrease in CVH score (β=-0.49; p =0.006). White unhoused respondents demonstrated a lower CVH score compared to Black respondents (β =-0.579; p =0.03) adjusting for other factors. Day laborers and part-time workers demonstrated approximately 1-point higher CVH scores (β =1.01; p=0.03; β =0.88; p=0.033, respectively) than unemployed individuals. Conclusion: Age, race, and employment status demonstrated associations with ideal cardiovascular health in this population of unhoused individuals in the southeastern US. Preliminary findings suggest that employment might be a target for cardiovascular health improvement among unhoused individuals.

Vibrio cholerae is a ubiquitously distributed human pathogen that naturally inhabits marine and estuarine ecosystems. Two serogroups are responsible for causing cholera epidemics, O1 and O139, but several non-O1 and non-O139 V. cholerae (NOVC) strains can induce cholera-like infections. Outbreaks of V. cholerae have previously been correlated with phytoplankton blooms; however, links to specific phytoplankton species have not been resolved. Here, the growth of a NOVC strain (S24) was measured in the presence of different phytoplankton species, alongside phytoplankton abundance and concentrations of dissolved organic carbon (DOC). During 14-day experiments, V. cholerae S24 was cocultured with strains of the axenic phytoplankton species Actinocyclus curvatulus, Cylindrotheca closterium, a Pseudoscourfieldia sp., and a Picochlorum sp. V. cholerae abundances significantly increased in the presence of A. curvatulus, C. closterium, and the Pseudoscourfieldia sp., whereas abundances significantly decreased in the Picochlorum sp. coculture. V. cholerae growth was significantly enhanced throughout the cogrowth experiment with A. curvatulus, whereas when grown with C. closterium and the Pseudoscourfieldia sp., growth only occurred during the late stationary phase of the phytoplankton growth cycle, potentially coinciding with a release of DOC from senescent phytoplankton cells. In each of these cases, significant correlations between phytoplankton-derived DOC and V. cholerae cell abundances occurred. Notably, the presence of V. cholerae also promoted the growth of A. curvatulus and Picochlorum spp., highlighting potential ecological interactions. Variations in abundances of NOVC identified here highlight the potential diversity in V. cholerae-phytoplankton ecological interactions, which may inform efforts to predict outbreaks of NOVC in coastal environments. IMPORTANCE Many environmental strains of V. cholerae do not cause cholera epidemics but remain a public health concern due to their roles in milder gastrointestinal illnesses. With emerging evidence that these infections are increasing due to climate change, determining the ecological drivers that enable outbreaks of V. cholerae in coastal environments is becoming critical. Links have been established between V. cholerae abundance and chlorophyll a levels, but the ecological relationships between V. cholerae and specific phytoplankton species are unclear. Our research demonstrated that an environmental strain of V. cholerae (serogroup 24) displays highly heterogenous interactions in the presence of different phytoplankton species with a relationship to the dissolved organic carbon released by the phytoplankton species. This research points toward the complexity of the interactions of environmental strains of V. cholerae with phytoplankton communities, which we argue should be considered in predicting outbreaks of this pathogen.

To characterize otologic and audiologic manifestations in our NF1 cohort and explore the relationship between otologic and audiologic findings in a subset of patients with ear-related plexiform neurofibromas (PNs).Audiologic and otologic clinical evaluations were conducted on 102 patients with NF1 in a natural history study (5-45 years; M = 14.4 years; Mdn = 14). Testing included pure tone and speech audiometry, middle ear function, neurodiagnostic auditory brainstem response (ABR), auditory processing, and MRIs of the head and neck region. Patients referred to this study had an overall higher incidence and burden of PNs than the overall NF1 population.The majority of subjects in this cohort had normal hearing sensitivity (81%) and normal middle ear function (78%). Nineteen participants had hearing loss that ranged in degree from mild to profound, with the majority in the mild range. Hearing loss was twice as likely to be conductive than sensorineural. In patients with ear-related PNs (n = 12), hearing loss was predominantly conductive (60%). Seventy-five percent of ears with PNs had atypical tympanometric tracings that could not be characterized by the classic categories. In all 20 patients with a PN in the temporal bone, the ear canal was affected, and the PNs often extended to the surrounding soft tissue regions.People with NF1-related PNs in the temporal bone and adjacent skull base should have audiometric and otologic monitoring. Addressing hearing concerns should be part of routine clinical evaluations in patients with NF1. Magnetic resonance imaging (MRI) should be performed in patients with NF1 who have hearing loss.3 Laryngoscope, 2022.

The COVID-19 pandemic has impacted the education of children around the world, forcing a large proportion of teaching to be carried out remotely. The implications of this disruption have yet to be fully elucidated, but initial assessments suggest that COVID-19-related school closures and reliance on virtual learning may have a long-term negative impact on educational attainment and future earnings as well as life expectancy of children in the United States. Among children with neurodegenerative disorders, such as neuronopathic mucopolysaccharidoses (MPS disorders), the effects of the pandemic are likely to be even greater. We aim to shine a spotlight on the impact of COVID-19 on the education, treatment and general wellbeing of children and families affected by MPS disorders by highlighting the important role that educators and therapists play in supporting the neurocognitive function and quality of life of children with neuronopathic MPS disorders. This article will serve as a resource that caregivers, educators, clinicians and therapists can use when considering how best to advocate for children with neuronopathic MPS disorders in circumstances where in-school teaching or in-clinic treatment is compromised or not possible. Given that the current pandemic is likely to have a prolonged course and impact and that similar epidemics and pandemics are a near certainty in the future, it is essential that steps are taken to support the learning and care of children with neuronopathic MPS disorders. We must prioritize strategies to safely resume this fragile community's access to in-person education and supportive care, and to address gaps that have emerged during prolonged pauses in access, whenever possible.

Older adults and racial minorities are overrepresented in homeless populations. Shelter and housing options for homeless older adults who have complex health and social needs are necessary, but not readily available. Older homeless adults that require, but do not receive, health-sensitive, age-sensitive, and racial equity housing, remain vulnerable to poor outcomes and premature mortality. Accordingly, this study examines the development of a coalition to better address older adult homelessness within a racial equity framework. A community coalition was established to better address older adult homelessness within the lens of age-sensitivity and racial equity, due to a disconnect between healthcare and senior housing placement programs, creating unaddressed multifaceted health issues/complications. The community coalition development is described, including the coalition process, activities, and outcomes. Local rehoused older adults are also interviewed and described to better understand their central life circumstances.

As mental health services are increasingly embracing the recovery model, we conducted a study to better understand how social adversity impacts recovery. We also examined how associations between social adversity and recovery are influenced (moderated or mediated) by symptom severity. Data on seven social adversity measures, eight recovery measures, and symptom severity were collected from 300 English-speaking participants, ages 18-65 years, with a diagnosis of a psychotic or mood disorder, from five community mental health agencies in diverse neighborhoods in Washington, D.C. We employed standard correlation, exploratory factor analyses, analysis of variance, and hierarchic regression procedures. Diagnostic category and gender impacted Home Environment Adversities (e.g., food insecurity, perceived neighborhood disorder), the diagnostic category-by-gender interaction influenced Social and Economic Adversities (e.g., years of education and income), and gender affected Recovery. Controlling for diagnostic category and gender, Social and Economic Adversities accounted for 1.7% of variance in Recovery, while Home Environment Adversities accounted for 8.6% (their joint influence was 3.4%). Although symptom severity did not moderate these associations, it partially mediated the effect of Social and Economic Adversities on Recovery, and substantially mediated the effect of Home Environment Adversities on Recovery. The extent to which patients with serious mental illnesses experience recovery may be meaningfully influenced not only by symptoms, but by their social and environmental circumstances.

ObjectivePrevious research suggests attention and white matter (WM) abnormalities in individuals with mucopolysaccharidosis type I (MPS I); this cross-sectional comparison is one of the first to examine the relationship of WM structural abnormalities as measured by corpus callosum (CC) volumes with attention scores to evaluate this relationship in a larger sample of patients with MPS I.MethodsVolumetric MRI data and performance on a computerized measure of sustained attention were compared for 18 participants with the severe form of MPS I (MPS IH), 18 participants with the attenuated form of MPS I (MPS IATT), and 60 typically developing age-matched controls.ResultsThe MPS I groups showed below-average mean attention scores (p < 0.001) and smaller CC volumes (p < 0.001) than controls. No significant associations were found between attention performance and CC volume for controls. Attention was associated with posterior CC volumes in the participants with MPS IH (p = 0.053) and total (p = 0.007) and anterior (p < 0.001) CC volumes in participants with MPS IATT.ConclusionsWe found that attention and CC volumes were reduced in participants with MPS I compared to typically developing controls. Smaller CC volumes in participants with MPS I were associated with decreased attention; such an association was not seen in controls. While hematopoietic cell transplantation used to treat MPS IH may compound these effects, attention difficulties were also seen in the MPS IATT group, suggesting that disease effects contribute substantially to the clinical attentional difficulties seen in this population.

e18548 Background: There are biological differences in the clinical outcomes of Black or Hispanic cancer patients compared with non-Hispanic Whites (NHWs); however minorities have disadvantages in social determinants of health (SDOH) that influence cancer outcomes too. The World Health Organization defines SODH as the conditions in which people are born, grow, live, work, age, and maintains that they are largely responsible for health inequities . Most the oncology professionals do not consider that this issue is necessarily part of their scope of practice and they rely on social workers and others to address these issues, and they are not aware that SDOH can impact clinical outcomes of cancer patients. Methods: Memorial Cancer Institute (MCI) part of the Memorial Healthcare System (MHS) is the 3rd largest Public Health Care System in the country. We found important disparities in immunotherapy outcomes in our MCI minority lung cancer patients ( Raez LE. Research Trends. 2021 Feb (20) 63–74 and Dickson F. JTO Vol. 16 (10) S904–5), some of these are related to SDOH. In order to increase awareness of SDOH and identify the impact of SDOH on cancer outcomes, our MHS value-based care team has been working to incorporate SDOH screening and follow-up as an important part of treatment plan development since 2018. At that time, MHS implemented an SDOH dashboard in our EPIC EMR to show the SDOH areas of risk. In 2021, MHS built a best practice alert in Epic to notify health care providers about SDOH issues that might impact treatment outcomes. Results: MHS has implemented a SDOH dashboard in the EPIC EMR that is accessible and easily noticed by the providers and updated constantly by our social workers and other health professionals screening for SDOH. Providers do not need to do extra work other than to be aware that the best cancer treatment that they are recommending for a patient might not have the desired outcome if some of these 13 SDOH are not considered during the planning phase of treatment. The SDOH dashboard uses color coding to indicate if any SDOH is at risk (red) or not at risk or low risk (green) allowing the provider to easily focus in on areas of concern when SDOH is reviewed. Conclusions: Using an easy to access and easy to read SDOH dashboard in the EMR allows oncology providers to address SDOH in the development of oncology treatment plans which we believe will lead to improved health care outcomes.[Table: see text]

Background Opioid overdose is a leading cause of death in the United States. Emergency medical services (EMS) encounters following overdose may serve as a critical linkage to care for people who use drugs (PWUD). However, many overdose survivors refuse EMS transport to hospitals, where they would presumably receive appropriate follow-up services and referrals. This study aims to (1) identify reasons for refusal of EMS transport after opioid overdose reversal; (2) identify conditions under which overdose survivors might be more likely to accept these services; and (3) describe solutions proposed by both PWUD and EMS providers to improve post-overdose care. Methods The study comprised 20 semi-structured, qualitative in-depth interviews with PWUD, followed by two semi-structured focus groups with eight EMS providers. Results PWUD cited intolerable withdrawal symptoms; anticipation of inadequate care upon arrival at the hospital; and stigmatizing treatment by EMS and hospital providers as main reasons for refusal to accept EMS transport. EMS providers corroborated these descriptions and offered solutions such as titration of naloxone to avoid harsh withdrawal symptoms; peer outreach or community paramedicine; and addressing provider burnout. PWUD stated they might accept EMS transport after overdose reversal if they were offered ease for withdrawal symptoms, at either a hospital or non-hospital facility, and treated with respect and empathy. Conclusion Standard of care by EMS and hospital providers following overdose reversal should include treatment for withdrawal symptoms, including buprenorphine induction; patient-centered communication; and effective linkage to prevention, treatment, and harm reduction services.

In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor the neurobehavioral symptoms have been measured comprehensively. We delineated these neurobehavioral characteristics and their impact on the caregiver using multiple approaches. Methods: As part of the initial phase of developing a Hunter-specific behavioral assessment tool, we used multiple methods to obtain data on patient behaviors and caregiver burden, with the intention of drafting item sets for the tool. We utilized 1) caregiver descriptions from focus groups and individual interviews, 2) observations from video-recorded play of affected children, 3) descriptions from historic chart review, 4) consultation with patient advocacy groups and international experts, 5) reports from a caregiver advisory board, and 6) literature review. Results: Neurobehavioral symptoms were diverse and categorized as focus/attention, impulsivity/heightened activity, sensation seeking, emotional/behavioral function, social interaction, and sleep. A significant reported challenge was susceptibility to misinterpretation of some behaviors as defiant or aggressive, particularly if physical. Caregiver burden involved social isolation, exhaustion, stress, and financial and vocational strain. These new descriptions will aid in developing quantitative measures of change in neurobehavioral symptoms and family burden. These descriptions will be the foundation of a neurobehavioral rating scale, which is very much needed to aid in patient management and assess interventions for individuals with neuronopathic Hunter syndrome. Keywords: Mucopolysaccharidosis II, Hunter syndrome, Neurobehavioral symptoms, Behavioral decline, Neuronopathic phenotype

Nonsuicidal self-injury (NSSI) affects a growing number of youth and transitional-aged youth. Nock's (2009) comprehensive model of NSSI engagement points to a range of factors that combine to predict who is at a heightened risk for self-injury. The present study examined the impact of specific interpersonal factors, family communication patterns (i.e., conversation and conformity orientations), and communication competence on five supported measures of self-injurious behaviors. We further tested whether alexithymia, or a person's inability to identify and describe their emotions, mediated family communication patterns and communication competence in predicting NSSI behavior. Family communication patterns, specifically conversation orientation, had a positive impact on lifetime NSSI behaviors. While communication competence positively related to both lifetime and current NSSI behaviors, alexithymia mediated these relationships. Implications for treatment are provided.

Objectives: Loss of estrogen and progesterone receptor expression has historically been associated with poor survival outcomes in women with uterine cancer, but the role of the remaining 46 nuclear hormone receptors remains unclear. Recently, data from The Cancer Genome Atlas demonstrated a novel association between loss of thyroid hormone receptor beta expression and increased survival in uterine cancer patients.1 The purpose of this study was to explore the association between clinical indices of thyroid function and survival outcomes in women diagnosed with uterine cancer. 1. Pique, D.G., Greally, J.M. & Mar, J.C. Identification of a novel subgroup of endometrial cancer patients with loss of thyroid hormone receptor beta expression and improved survival. BMC Cancer 20:857 (2020). Methods: A single-institution retrospective cohort study was performed examining all women diagnosed with uterine cancer from 2006-2016. Data regarding patient demographics, medical co-morbidities, histology, stage and treatment course were abstracted from the medical record. Historical records and thyroid function studies (TSH, T3, free T4) were used to identify patients who were euthyroid, hypothyroid, or hyperthyroid within 1 year prior to their cancer diagnosis until the end of the follow-up period. The primary outcome was time to death from cancer diagnosis. A Cox proportional hazards model was used to identify the association between thyroid dysfunction and survival by using thyroid status as a time-dependent covariate and adjusting for age, grade and stage of disease. Download : Download high-res image (177KB) Download : Download full-size image Results: A total of 1201 patients were included for analysis. One thousand thirty (86%) patients had no thyroid dysfunction at time of cancer diagnosis, 145 patients (12%) carried the baseline diagnosis of hypothyroidism and 26 patients (2%) had hyperthyroidism. Twenty three women with normal thyroid function at baseline developed thyroid dysfunction during follow-up (91% hypothyroid, 9% hyperthyroid). A total of 218 deaths were observed. There were no differences in survival among patients with hypothyroidism or hyperthyroidism compared to euthyroid patients [HR 0.72 (95% CI 0.47-1.12, p=0.15); HR 0.51 (95% CI 0.16-1.58, p=0.24) respectively]. Women diagnosed with thyroid dysfunction prior to cancer diagnosis were observed to have a 30% lower hazard of death compared to euthyroid women, although this did not achieve statistical significance [HR 0.70 (95% CI 0.46-1.07, p=0.10)]. Patients who developed thyroid dysfunction after cancer diagnosis were observed to have a 3.7 fold higher hazard of death compared to patients who remained euthyroid during followup [HR 3.70 (95% CI 1.60-8.30), p=0.01], but this did not maintain significance in models adjusting for age, grade and stage of disease. Conclusions: Thyroid dysfunction was not associated with a difference in survival in women with uterine cancer in our cohort. Timing of thyroid dysfunction relative to uterine cancer diagnosis may affect clinical outcomes. Additional studies are needed to explore the relationship of thyroid dysfunction and uterine cancer.

The present study relies on the voices of survivors of past abuse to describe the amount, type, and impact of costs related to their experience of intimate partner violence (IPV). We use a content analysis methodology to present common themes that survivors face regarding financial recovery from past IPV. Costs are conceptualized within the Triumph Process Model of Overcoming IPV with an emphasis on “embracing freedom and power” and “emotional and physical healing” dimensions. Implications for recovering from IPV and service provision are discussed.

The two hallmarks of addiction are continued use despite negative consequences and the loss of control (Goodman, 1993, 2001). Based on these features, both chemicals and behaviors can become addictive. Over the past several decades, there has been growing acceptance of the validity of behavioral addictions. The American Society of Addiction Medicine (2011) revised its definition of addiction to include addictive behaviors such as sex, food, gambling, and spending. The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5; American Psychiatric Association, 2013) contains a chapter for Substance-Related and Addictive Disorders, including criteria for substance use disorders as well as one behavioral addiction, namely, gambling disorder. Although Internet gaming disorder was included in Section III of the DSM-5, indicating a need for further research, other proposed addictive behaviors were not recognized in the fifth edition. Specifically, Kafka (2010,2013) proposed diagnostic criteria for hypersexual disorder (HD) with characteristics such as mental preoccupation with sexual urges, fantasies, and behaviors; the use of sexual acts to cope with emotional distress; and failed attempts to control the behavior. Despite several pivotal research projects examining the nature, prevalence, and treatment of sexual addiction or hypersexual behavior, including survey research with approximately 1,000 individuals with sexual addiction (Carnes, 1991) and a comprehensive field trial of the proposed HD criteria (Reid et al., 2012), the rationale for excluding HD included concerns regarding the need for more evidence and research and the effect of the diagnosis within forensic settings (Kafka, 2014). Specifically, DSM-5 reviewers had concerns about the misuse of an HD diagnosis in evaluations of sexually violent predators for civil commitments (Kafka, 2014). Thus, we sought to examine sexual addiction in a population reported to experience elevated levels--the college population (Cashwell, Giordano, Lewis, Wachtel, & Bartley, 2015; Giordano & Cecil, 2014; Seegers, 2003)--with the aim of continuing the research in the field of compulsive sexual behavior. * Collegiate Sexual Addiction Individuals with sexual addiction, much like those with chemical dependence, rely on sexual behaviors as their primary coping mechanism for emotional distress (Goodman, 1993). Both positive (pleasure) and negative (reduction of undesirable affect) reinforcement perpetuate the continuation of the sexual behavior. Beyond psychological and behavioral features of sexual addiction, researchers have also found that compulsive sexual behaviors affect the reward circuitry in the brain in similar fashion to drugs of abuse (Blum et al., 2012). Specifically, sexual behaviors trigger dopamine release in the brain activating the reward cascade, which can lead to neuroadaptations if chronically and excessively activated (Blum et al., 2012). In other words, what might begin as behavior to tolerate emotional distress results, over time, in changes in brain chemistry and functioning. Therefore, sexual addiction is a complex condition with biological, psychological, and behavioral elements. Additionally, the fact that many researchers have found sexual addiction to be more prevalent among specific subsets of the population suggests a sociocultural component. For example, Carnes (2005) posited that up to 6% of the general U.S. population has a sexual addiction, and Smith et al. (2014) reported that 16.7% of male veterans engaged in sexually compulsive behavior. Additionally, Stavro, Rizkallah, Dinh-Williams, Chiasson, and Potvin (2013) found that 25% of clients in treatment for substance abuse met the criteria for sexual addiction. College students are another population with elevated sexual addiction rates. For example, Giordano and Cecil (2014) found that 16.2% of college men were in the clinical range for hypersexuality. …

Central nervous system manifestations of mucopolysaccharidosis type I (MPS I) such as cognitive impairment, hydrocephalus, and spinal cord compression are inadequately treated by intravenously-administered enzyme replacement therapy with laronidase (recombinant human alpha-L-iduronidase). While hematopoietic stem cell transplantation treats neurological symptoms, this therapy is not generally offered to attenuated MPS I patients. This study is a randomized, open-label, controlled pilot study of intrathecal laronidase in eight attenuated MPS I patients with cognitive impairment. Subjects ranged between 12years and 50years old with a median age of 18years. All subjects had received intravenous laronidase prior to the study over a range of 4 to 10years, with a mean of 7.75years. Weekly intravenous laronidase was continued throughout the duration of the study. The randomization period was one year, during which control subjects attended all study visits and assessments, but did not receive any intrathecal laronidase. After the first year, all eight subjects received treatment for one additional year. There was no significant difference in neuropsychological assessment scores between control or treatment groups, either over the one-year randomized period or at 18 or 24months. However, there was no significant decline in scores in the control group either. Adverse events included pain (injection site, back, groin), headache, neck spasm, and transient blurry vision. There were seven serious adverse events, one judged as possibly related (headache requiring hospitalization). There was no significant effect of intrathecal laronidase on cognitive impairment in older, attenuated MPS I patients over a two-year treatment period. A five-year open-label extension study is underway.

Previous research has demonstrated the mutation, c.712T>A (p.L238Q) of the gene for α-L- iduronidase (IDUA) in patients with Hurler-Scheie syndrome is relatively severe when paired with a nonsense or deletion or splice-site mutation. This mutation was also found to be associated with psychiatric symptoms. This research presents longitudinal data and protein analysis to further investigate the severity and natural history of these unique patients. Methods: Six patients heterozygous for L238Q were compared to six patients with Hurler-Scheie without the L238Q mutations. Somatic burden of disease, IQ, memory, attention, adaptive functioning and behavioral measures were given yearly over 2 to 4 years from 2009 to 2014. The impact of L238Q on the IDUA enzyme was examined using 7 bioinformatics tools and a 3D structural analysis. Results: Similar to the cross sectional study, the L238Q patients had more severe abnormalities in IQ, attention, adaptive functioning, and behavioral functioning than the comparison group. There were no major differences between the two groups in change over time; IQ for both groups was stable with some behavioral areas showing improvement. Over time, both groups declined in visual spatial memory and, attention/visual processing. They also showed increased anxiety. Structural and bioinformatics analysis of the L238Q suggest that this mutation causes a significant reduction in the IDUA enzyme's potential catalytic activity, and this mutation may be more severe than other mutations contributing to the Hurler-Scheie syndrome phenotype, presumably causing the psychiatric disease. Conclusion: L238Q patients demonstrate severe neurocognitive and neurobehavioral deficits but are relatively stable. Like the comparison group, decreasing visual spatial memory and attention and increasing anxiety suggest more intervention in life skills and emotional social supports are needed. Keywords: Hurler-Scheie syndrome, α-L-iduronidase, Mucopolysaccharidosis (MPS), L238Q mutation, Neurocognition

Objectives: The behavioral, adaptive and quality of life characteristics of attenuated mucopolysaccharidosis type II (MPS II) have not been well studied. Understanding changes over time in the attenuated phenotype may assist in helping achieve better outcomes in long-term function. This longitudinal study investigates these outcomes in relation to age, somatic disease burden, and IQ. Specifically, somatic disease burden is a major challenge for these patients, even with treatment with enzyme replacement therapy. Methods: 15 patients, 10 between ages 6 and

Introduction The mucopolysaccharidoses (MPSs) are a group of rare genetic lysosomal disorders with progressive multisystem involvement. An MPS-specific physical symptom scale was developed and introduced a Physical Symptom Score (PSS) to quantify the somatic disease burden across MPS I, II and VI. Hypothesis Somatic burden of disease in patients with attenuated MPS I, II and VI as measured by the PSS will be positively associated with age and negatively associated with neuropsychological functions [i.e. full scale intelligence quotient (FSIQ) and attention]. Materials and methods Forty-eight patients with attenuated MPS I (n = 24), II (n = 14), and VI (n = 10) aged 6 to 32 years on enzyme replacement therapy who were enrolled in “Longitudinal Studies of Brain Structure and Functions in MPS Disorders” across seven centers. Somatic disease burden was measured by the PSS. Neuropsychological functions were measured by the Wechsler Abbreviated Scale of Intelligence (WASI) and Test of Variables of Attention (TOVA). Results PSS was positively associated with age in attenuated MPS I (P, Highlights • MPS-specific physical symptom scale introduced a Physical Symptom Score (PSS) by quantifying the somatic disease burden • PSS was significantly positively associated with age in attenuated MPS I, MPS II and MPS VI • PSS was significantly negatively associated with Full Scale IQ (FSIQ) in attenuated MPS I and in MPS VI • PSS was not statistically significantly associated with FSIQ in MPS II, but had similar direction as other two groups • • There were no previous studies that examined the association of PSS in MPS disorders with neuropsychological functions

For individuals with sexual addiction, sexual behaviors often are the primary means of regulating distressing or undesirable emotion. In this study, we sought to examine differences in aspects of emotion regulation between students in the clinical range of sexual addiction and those in the nonclinical range. Among a sample of 337 college students, 57 (16.9 %) scored in the clinical range of sexual addiction and students in the clinical range differed significantly from students in the nonclinical range on three aspects of emotion regulation: (a) nonacceptance of emotional responses, (b) limited engagement in goal-directed behaviors in response to negative affect, and (c) minimal emotion regulation strategies. Implications for interventions on college campuses are provided.

Objectives Our goal was to describe the neurobehavioral phenotype in mucopolysaccharidosis Type IIIB (MPS IIIB). Parents report that behavioral abnormalities are a major problem in MPS III posing serious challenges to parenting and quality-of-life for both patient and parent. Our previous research on MPS IIIA identified autistic symptoms, and a Klüver-Bucy-type syndrome as indicated by reduced startle and loss of fear associated with amygdala atrophy. We hypothesized that MPS IIIB would manifest similar attributes when assessed with the same neurobehavioral protocol. Methods Ten patients with MPS IIIB were compared with 9 MPS IIIA patients, all older than 6. 8 younger children with Hurler syndrome (1H) were chosen as a comparison group for the Risk Room procedure; MPS IH does not directly affect social/emotional function and these younger children were closer to the developmental level of the MPS IIIB group. To examine disease severity, cognitive ability was assessed. Four evaluations were used: the Risk Room procedure (to measure social-emotional characteristics, especially fear and startle responses), the Autism Diagnostic Observation Schedule (ADOS), the Sanfilippo Behavior Rating Scale (SBRS), and amygdala brain volumes calculated from manually-traced MRI images. Results The two groups are equivalent in severity and show severe cognitive impairment. On the ADOS, the MPS IIIB patients exhibited the same autistic features as IIIA. The IIIB means differed from MPS IH means on most measures. However, the IIIB group did not approach the Risk Room stranger, like the MPS IH group who kept their distance, but unlike the IIIA group who showed no fear of the stranger. On the SBRS, the MPS IIIB patients were described as more inattentive and more fearful, especially of new people than the MPS IIIA. Onsets of some disease characteristics appeared more closely spaced and slightly earlier in MPS IIIB than IIIA. Conclusions On most behavioral measures, MPS IIIB patients did not differ substantially from MPS IIIA patients over age six, demonstrating autistic features and a Klüver Bucy-like syndrome including lack of fear and poor attention. Delay in onset of behavioral symptoms was associated with later diagnosis in two patients. Lack of fear, poor attention, and autistic-like symptomatology are as characteristic of MPS IIIB as they are of MPS IIIA. A possible difference is that the some behavioral abnormalities develop more quickly in MPS IIIB. If this is so, these patients may become at risk for harm and present a challenge for parenting even earlier than do those with MPS IIIA. In future clinical trials of new treatments, especially with respect to quality of life and patient management, improvement of these behaviors will be an essential goal. Because very young patients were not studied, prospective natural history documentation of the early development of abnormal behaviors in MPS IIIB is needed., Highlights • MPS IIIB patients are significantly inattentive and hyperactive • Autistic-like symptoms of impaired social communication are present in MPS IIIB • MPS IIIB patients have a Klüver-Bucy-like loss of fear • MPS IIIB and MPSIIIA who are over six years of age show a similar behavioral phenotype

Background The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood forms. No treatments are currently approved for the gangliosidoses, and development of treatments is impaired by limited understanding of the natural history of these diseases. Objective The objective of this study is to improve understanding of the juvenile gangliosidoses phenotypes and the late-infantile phenotypic subtype. Methods Through a prospective natural history study of subjects with juvenile GM1- and GM2-gangliosidosis, a timeline of clinical changes was developed for the classic juvenile phenotypes and the late-infantile phenotypes and results of serial neurodevelopmental testing was analyzed. Results Several candidate ‘outcome measures’ were identified: changes in ambulation and verbalization skills, the communication domain from neurodevelopmental testing and the caregiver-reported socialization domain. Conclusions The most common symptoms leading caregivers to seek a genetic diagnosis were changes in ambulation and verbalization.