Childhood Maltreatment and Early Alcohol Use Among High-Risk Adolescents

Objective: Child maltreatment (CM) is prevalent among U.S. youth and has been associated with subsequent maladaptive behaviors, including substance use. The current study examines the associations between early child maltreatment and (1) preteen alcohol-use initiation and (2) heavy episodic drinking among students in a large study of adolescents. Method: The Youth Violence Survey is a cross-sectional survey of public school students enrolled in Grades 7,9, 11, and 12 in a school district in a high-risk community. The analysis sample was limited to students who provided complete data on all relevant variables (N = 3,559). Fifty-two percent of the analysis sample was female. Early child maltreatment was defined as witnessing domestic violence and experiencing physical and/or sexual abuse before the age of 10 years. Outcome variables include ever drinking alcohol, preteen alcohol-use initiation, and heavy episodic drinking. Results: Witnessing domestic violence, experiencing physical abuse, and experiencing sexual abuse were significantly associated with preteen alcohol-use initiation (adjusted odds ratio [AOR] = 1.55, 95% confidence interval [CI]: 1.26-1.91; AOR = 2.10, 95% CI: 1.69-2.63; AOR = 1.57, 95% CI: 1.16-2.14, respectively). Students who experienced one or more types of maltreatment were 1.5-3 times more likely to report preteen alcohol-use initiation. Heavy episodic drinking was associated only with childhood sexual abuse in boys (AOR = 2.62, 95% CI: 1.52-4.50). Conclusions: Prevention and treatment of the negative impact of early child maltreatment may delay and reduce alcohol use

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies

Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone and is hypothesized to be a recessive trait. A genome wide association study (GWAS), utilizing the Affymetrix 670K array (MNEc670k) and a single locus mixed linear model analysis (EMMAX), identified a locus on ECA7 for further investigation (Pcorrected = 2.08 × 10−10). This locus contained a 3 Mb run of homozygosity in the 12 mushroom ponies tested. Analysis of high throughput Illumina sequencing data from one mushroom Shetland pony compared to 87 genomes from horses of various breeds, uncovered a frameshift variant, p.Asp201fs, in the MFSD12 gene encoding the major facilitator superfamily domain containing 12 protein. This variant was perfectly concordant with phenotype in 96 Shetland Ponies (P = 1.15 × 10−22), was identified in the closely related Miniature Horse for which the mushroom phenotype is suspected to occur (fmu = 0.02), and was absent in 252 individuals from seven additional breeds not reported to have the mushroom phenotype. MFSD12 is highly expressed in melanocytes and variants in this gene in humans, mice, and dogs impact pigmentation. Given the role of MFSD12 in melanogenesis, we propose that p.Asp201fs is causal for the dilution observed in mushroom ponies

Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse

Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ²=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.Rebecca R. Bellone … David L. Adelson, Sim Lin Lim … et al

Mutual gaze behavior

The presence of a sex difference in mutual eye-to-eye contact in dyadic interaction is well documented from late infancy through adulthood with females making more mutual eye contact than males. Only one study (Hittelman & Dickes, 1979) found evidence for this behavior pattern in newborns, but no research has been done to follow-up these findings. Systematic examination of the development of sex differences in mutual gaze behavior can aid in unraveling the differential effects of biological and social influences on the development of gendered social behavior.This project was a longitudinal, within participants replication and extension of Hittelman and Dickes study: Seventy neonates (32 female, 38 male) age 13--112 hours postpartum and their parents participated in the Time 1 data collection, and 23 (9 female, 14 male) infants and their parents were seen a second time at 13--18 weeks postpartum (Time 2). Mutual gaze between the infant and two interacters (1 female, 1 male) was measured, and parents completed the Parental Sex-Typing of Newborns (Paston) Rating Scale to measure their sex-typed perceptions of newborns and young infants.Results indicated: (a) No empirical evidence for sex differences at Time 1; (b) Strong evidence for sex differences in mutual gaze behavior at Time 2 indicating development of this sex-typed pattern in early infancy; (c) The emergence of sex differences in mutual gaze behavior from Time 1 to Time 2 is entirely accounted for by a radical change in female infants' gaze behavior; and (d) Empirical evidence linking mothers' sex-typed beliefs about their infants and infants' sex-typed gaze behavior.Results are discussed within the theoretical contexts of the social learning and biological perspectives. This study demonstrates that infants' sex-typed behavior and mothers' gender-typed perceptions begin early in life. It is concluded that sex differences in mutual gaze behavior are a complex interplay of biological or social forces acting in concert. Subsequent research in this area should focus on the specific forces involved in bringing sex differences in mutual gaze behavior to fruition

Commentary - Child maltreatment surveillance: enumeration, monitoring, evaluation and insight

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Commentaire - Surveillance de la maltraitance des enfants : recension, suivi, évaluation et aperçu

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