The Sibling Donor Cord Blood (SDCB) Program was initiated in 1998 as a resource to collect, characterize, and release cord blood units (CBUs) from families affected by malignant and nonmalignant disorders for transplantation. Families in the United States were recruited by telephone after referrals by community and academic physicians. Collection kits were mailed to prospective participants and family members were instructed about CBU procurement from community hospitals and shipping to a central laboratory. Data about the infant's delivery and CBU harvest, CBU processing, prethaw characteristics, sterility, and human leukocyte antigen (HLA) typing were collected. Standard outcome data were collected after CBU release for transplantation. Descriptive analyses of CBU collections, processing, release, and transplantation outcomes were performed. Currently, 1617 CBU collections have been processed from families with thalassemia (6%), sickle cell disease (28%), malignant disorders (49%), and other rare hematological disorders (17%). Thirty-two of 96 donor-recipient pairs with thalassemia major were HLA identical and 14 have received cord blood transplantation, either alone or in combination with bone marrow or peripheral blood progenitor cells (N = 4) from the same donor. Eleven of the 14 survive free of thalassemia after transplantation. These preliminary results confirm the feasibility and utility of remote-site sibling donor cord blood collection and subsequent transplantation for hematological disorders, with a very high rate of usage from a cord blood bank dedicated to performing these unique collections. It was concluded that cord blood transplantation from sibling donors represents a suitable alternative to bone marrow transplantation.

The offspring of parents with Huntington's disease (HD) are faced with substantial levels of chronic uncontrollable and unpredictable stress. These stressors may place them at heightened risk of psychological distress and negative effects on executive functioning. This study investigated working memory, secondary control coping strategies (e.g., cognitive reappraisal, acceptance, distraction), and symptoms of anxiety/depression in offspring at risk for HD. Method: Adolescent (ages 10 -19) and young adult (ages 20 -29) offspring (n ϭ 33; mean [M] age ϭ 19.12 years, standard deviation [SD] ϭ 6.01 years; 61% female) of parents with HD were recruited in a Huntington Disease Society of America Level 1 Center of Excellence. Participants completed self-report measures of coping and neuropsychiatric symptoms (i.e., anxiety, depression) and a standardized working memory assessment. Pearson correlations and path analyses were used to test associations. Results: Participant scores on the working memory assessment were significantly lower compared with normative data, and scores on a mixed anxiety/ depression scale revealed a significant elevation compared with normative data. Working memory, secondary control coping, and symptoms of anxiety/depression were significantly correlated. Analyses of the full model revealed that the total indirect effect of working memory on anxiety/depression through secondary control coping was significant (␤ ϭ Ϫ0.20). Conclusion: Secondary control coping skills are an important factor in understanding the relationship between working memory and symptoms of anxiety/depression in the offspring of parents with HD. Future longitudinal research is needed to establish the direction of these associations. Working memory and coping skills represent potential targets for intervention to reduce the risk of anxiety/depression in this population.

Background: Risky behaviors are common in Huntington’s disease (HD) and can lead to significant adverse consequences. However, the prevalence and scope of these symptoms have not been studied systematically, and no empirically validated measures are available to screen for them. Objective: To test a novel screening tool designed to assess risk-taking behaviors in HD. Methods: We administered the Risk Behavior Questionnaire (RBQ-HD) to HD patients and caregivers at Vanderbilt University Medical Center between 2018-2019. Patients completed the questionnaire based on self-report; caregivers provided collateral reports. Clinical and demographic information were obtained from the electronic medical record. Results: 60 patients and 60 caregivers completed the RBQ-HD. 80% of patients (n = 48) and 91.7% of caregivers (n = 60) reported at least one risky behavior. Adverse social behaviors, impulsive/compulsive behaviors, and reckless driving were the most common behavioral domains reported. Male patients were more likely to report risky behaviors than females (92.3% vs. 70.6%, p = 0.04). The number of risky behaviors reported by patients and caregivers was negatively correlated with patient age (r = –0.32, p = 0.01; r = –0.47, p = 0.0001, respectively). Patient and caregiver reports were highly correlated in matched pairs (n = 30; r = 0.63, p = 0.0002). Conclusion: These findings emphasize that risky behaviors are highly prevalent in HD and can be effectively identified through the use of a novel screening measure. We hypothesize that early pathological involvement of frontostriatal and mesolimbic networks may be important factors in the development of these behaviors.

Background: Safer-at-home orders during the COVID-19 pandemic altered the structure of clinical care for Huntington’s disease (HD) patients. This shift provided an opportunity to identify limitations in the current healthcare infrastructure and how these may impact the health and well-being of persons with HD. Objective: The study objectives were to assess the feasibility of remote healthcare delivery in HD patients, to identify socioeconomic factors which may explain differences in feasibility and to evaluate the impact of safer-at-home orders on HD patient stress levels. Methods: This observational study of a clinical HD population during the ‘safer-at-home’ orders asked patients or caregivers about their current access to healthcare resources and patient stress levels. A chart review allowed for an assessment of socioeconomic status and characterization of HD severity. Results: Two-hundred and twelve HD patients were contacted with 156 completing the survey. During safer-at-home orders, the majority of HD patients were able to obtain medications and see a physician; however, 25% of patients would not commit to regular telehealth visits, and less than 50% utilized an online healthcare platform. We found that 37% of participants were divorced/single, 39% had less than a high school diploma, and nearly 20% were uninsured or on low-income health insurance. Patient stress levels correlated with disease burden. Conclusion: A significant portion of HD participants were not willing to participate in telehealth services. Potential explanations for these limitations may include socioeconomic barriers and caregiving structure. These observations illustrate areas for clinical care improvement to address healthcare disparities in the HD community.

Background and objectivesThe clinical diagnosis of Huntington disease (HD) is typically made once motor symptoms and chorea are evident. Recent reports highlight the onset of cognitive and psychiatric symptoms before motor manifestations. These findings support further investigations of cognitive function across the lifespan of HD sufferers.MethodsTo assess cognitive symptoms in the developing brain, we administered assessments from the National Institutes of Health Toolbox Cognitive Battery, an age-appropriate cognitive assessment with population norms, to a cohort of children, adolescents and young adults with (gene-expanded; GE) and without (gene-not-expanded; GNE) the trinucleotide cytosine, adenine, guanine (CAG) expansion in the Huntingtin gene. These five assessments that focus on executive function are well validated and form a composite score, with population norms. We modelled these scores across age, and CAP score to estimate the slope of progression, comparing these results to motor symptoms.ResultsWe find significant deficits in the composite measure of executive function in GE compared with GNE participants. GE participant performance on working memory was significantly lower compared with GNE participants. Modelling these results over age suggests that these deficits occur as early as 18 years of age, long before motor manifestations of HD.ConclusionsThis work provides strong evidence that impairments in executive function occur as early as the second decade of life, well before anticipated motor onset. Future investigations should delineate whether these impairments in executive function are due to abnormalities in neurodevelopment or early sequelae of a neurodegenerative process.