5 research outputs found
Pediatric sleep difficulties after moderateāsevere traumatic brain injury
The objective of this study is to systematically investigate sleep following moderateāsevere pediatric traumatic brain injury (TBI). School-aged children with moderateāsevere TBI identified via hospital records were invited to participate, along with a school-age sibling. Subjective reports and objective actigraphy correlates of sleep were recorded: Children's Sleep Habits Questionnaire (CSHQ), Sleep Self-Report questionnaire (SSR), and 5-night actigraphy. TBI participants (n = 15) and their siblings (n = 15) participated. Significantly more sleep problems were parent-reported (CSHQ: p = 0.003; d = 1.57), self-reported (SSR: p = 0.003; d = 1.40), and actigraph-recorded in the TBI group (sleep efficiency: p = 0.003; d = 1.23; sleep latency: p = 0.018; d = 0.94). There was no evidence of circadian rhythm disorders, and daytime napping was not prevalent. Moderateāsevere pediatric TBI was associated with sleep inefficiency in the form of sleep onset and maintenance problems. This preliminary study indicates that clinicians should be aware of sleep difficulties following pediatric TBI, and their potential associations with cognitive and behavioral problems in a group already at educational and psychosocial risk
A Polynesian-specific missense CETP variant alters the lipid profile
Summary: Identifying population-specific genetic variants associated with disease and disease-predisposing traits is important to provide insights into the genetic determinants of health and disease between populations, as well as furthering genomic justice. Various common pan-population polymorphisms at CETP associate with serum lipid profiles and cardiovascular disease. Here, sequencing of CETP identified a missense variant rs1597000001 (p.Pro177Leu) specific to MÄori and Pacific people that associates with higher HDL-C and lower LDL-C levels. Each copy of the minor allele associated with higher HDL-C by 0.236Ā mmol/L and lower LDL-C by 0.133Ā mmol/L. The rs1597000001 effect on HDL-C is comparable with CETP Mendelian loss-of-function mutations that result in CETP deficiency, consistent with our data, which shows that rs1597000001 lowers CETP activity by 27.9%. This study highlights the potential of population-specific genetic analyses for improving equity in genomics and health outcomes for population groups underrepresented in genomic studies