Following pediatric traumatic brain injury (TBI), post-concussion symptoms (PCS) and post-traumatic stress symptoms (PTSS) occur commonly; however, it is unknown to what degree they overlap. The study examined PCS and PTSS persisting 7 weeks after injury in children and adolescents ages 8-15 years with TBI (n = 89) or extracranial injury (EI; n = 40) after vehicle collisions. TBI was divided into mild, complicated-mild/moderate, and severe groups. Parents retrospectively rated children's pre-injury symptoms and behavior problems, and children completed self-report measures after injury. PCS and PTSS total scores were significantly correlated in TBI and EI groups, respectively, for child (rs = 0.75; rs = 0.44), and adolescent (rs = 0.61; rs = 0.67) cohorts. Generalized linear models examined whether injury type and severity, age, sex, and pre-injury symptom ratings predicted PCS and PTSS total scores and factor scores. Specific PCS and PTSS factor scores were elevated in different TBI severity groups, with most frequent problems following mild or severe TBI. PCS did not differ by age; however, girls had more emotional symptoms than boys. Only PTSS were predicted by pre-injury externalizing behavior. Significant age by sex interactions indicated that adolescent girls had more total, avoidance, and hyperarousal PTSS symptoms than younger girls or all boys. PCS and PTSS significantly overlapped in both TBI and EI groups, highlighting shared persistent symptoms after injury. Shared vulnerability factors included female sex, milder TBI, and poorer pre-injury adjustment. Older age was a unique vulnerability factor for PTSS. Psychological health interventions after injury should be customized to address comorbid symptoms.

The role of oxytocin (OT) in social cognition of patients with Huntington's disease (HD) has been studied, but its impact on executive functioning has not been explored yet. Healthy controls, premanifest HD, and manifest HD participants underwent executive functioning assessment and OT plasma measurement. There were no significant group differences in plasma OT levels. Higher OT levels were associated with better executive functioning in premanifest HD participants. Our findings revealed an association between OT levels and depressive symptoms in premanifest and manifest HD participants. The potential role of OT in HD deserves further investigation.

Background Huntington’s disease (HD) is diagnosed in 1 in 7300 individuals in Western populations but the frequency and penetrance of the causative CAG repeat expansion is unknown. Effects of population ageing, which may increase the rate of late-onset HD, remain unclear. Aims To directly estimate the frequency and penetrance of CAG repeat alleles associated with HD, and model changes in prevalence resulting from increased ascertainment of late-onset cases. Methods CAG repeat length was evaluated in 7315 individuals from three population-based cohorts in British Columbia, the United States, and Scotland. The frequency of CAG 36–38 repeat genotypes was compared to the prevalence of HD patients with genetically confirmed CAG 36–38 in a multisource clinical ascertainment in British Columbia, Canada. Penetrance of 36–38 CAG repeat alleles for HD was directly estimated for individuals ≥65 years of age. Age-specific prevalence rates were used to model change in prevalence as a function of population ageing and increased ascertainment of patients ≥65 years of age. Results 18 of 7315 individuals had ≥36 CAG, revealing that approximately 1 in 400 individuals in the general population have an expanded CAG repeat associated with HD (0.246%). Individuals with CAG 36–37 genotypes are the most common (36, 0.096%; 37, 0.082%; 38, 0.027%; 39, 0.000%; ≥40, 0.041%). The prevalence of HD is expected to increase as a result of both population ageing and increased ascertainment of late-onset cases. Conclusions The relatively infrequent diagnosis of HD at 36–38 CAG repeats suggests low penetrance in this range. Another contributing factor may be reduced ascertainment of HD in those of older age. Our data imply that population ageing will lead to higher prevalence rates of HD. Improved ascertainment of late-onset HD, particularly in the reduced penetrance range, may lead to further increases.

ABSTRACTThere is uncertainty surrounding the accuracy of prevalence estimates for Huntington's disease (HD). The aims of this study were to provide a best estimate of the prevalence and population at risk for HD in the province of British Columbia (BC), Canada, in 2012. HD patients with a clinical and/or genetic diagnosis of HD and individuals at risk for HD were ascertained from multiple sources. Clinical and genetic data were obtained from all available medical, social service, and genetic testing records. Six hundred and thirty‐one HD patients and 3,763 individuals at 25% or 50% risk for HD were identified. Prevalence of HD was estimated at 13.7 per 100,000 (95% confidence interval [CI]: 12.6–14.8 per 100,000) in the general population, and 17.2 per 100,000 (95% CI: 15.8–18.6 per 100,000) in the Caucasian population. The population at 25% to 50% risk was estimated at 81.6 per 100,000 (95% CI: 79.0–84.2 per 100,000) individuals. These figures suggest there may be up to 4,700 individuals affected with HD and 14,000 at 50% risk for HD in Canada as well as up to 43,000 individuals affected with HD and 123,000 at 50% risk for HD in the United States. This is the first direct assessment of HD epidemiology in Canada in over three decades. These findings suggest that underascertainment may have led to previous underestimates of prevalence, namely, in Caucasian populations, and will aid in the planning of appropriate resource allocation and service delivery for the HD community. © 2013 International Parkinson and Movement Disorder Society.

Mutations in NOTCH2 cause Hajdu‐Cheney syndrome, a disorder of severe and progressive bone loss Simpson et al. (2011) Nature Genetics 43 (4): 303–305

Dauwerse et al. (2011)Nature Genetics 43:20-22.