Early social deprivation (i.e., an insufficiency or lack of parental care) has been identified as a significant adverse early experience that may affect multiple facets of child development and cause long-term outcomes in physical and mental health, cognition and behavior. Current research provides growing evidence that epigenetic reprogramming may be a mechanism modulating these effects of early adversities. This work aimed to investigate the impact of early institutionalization—the immersion in an extreme socially depriving environment in humans—on the epigenome and adaptive behavior of young children up to 4 years of age. We conducted a cross-sectional study involving two comparison groups: 29 children raised in orphanages and 29 children raised in biological families. Genome-wide DNA methylation profiles of blood cells were obtained using the Illumina MethylationEPIC array; the level of child adaptive functioning was assessed using the Vineland Adaptive Behavior Scales-II. In comparison to children raised in families, children residing in orphanages had both statistically significant deficits in multiple adaptive behavior domains and statistically significant differences in DNA methylation states. Moreover, some of these methylation states may directly modulate the behavioral deficits; according to preliminary estimates, about 7–14% of the deviation of adaptive behavior between groups of children may be determined by their difference in DNA methylation profiles. The duration of institutionalization had a significant impact on both the adaptive level and DNA methylation status of institutionalized children.

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The research literature suggests that institutions for children left without parental care do not provide environments that adequately promote children's development, and that characteristics of orphanages should be considered as an environmental factor influencing developmental difficulties in children living in institutions and later in post-institutional families. This study aimed to analyze the structural characteristics of the caregiving environment in two St. Petersburg (RF) orphanages-baby homes for children from birth to 4-5 years of age (BH A and BH B), and the maintenance of the structural interventions that were implemented in BH A during 2000-05 (The St. Petersburg-USA Orphanage Research Team, 2008). Both institutions belong to the Ministry of Health and are managed under the same medical regulations, providing about the same quality of medical care and nutrition. The results of the study show that the number of children living in each ward (4 to 6 in BH A and 5 to 8 in BH B), and the child-caregiver ratio (2 to 3 for BH A and 2.5 to 4 for BH B) in the two baby homes are about the same, while BH A have fewer staff members who are assigned to the ward (6-8 vs. 9-14 in BH B). The ward assistant teachers in BH A are assigned as the primary caregivers, working 5 days a week (39 hrs) vs. about 25 hrs a week for assistant teachers in BH B. While living in the baby home, children in BH A are integrated by age and disability (vs. segregation by age and partial disability integration in BH B), and are assigned to one ward (meaning the same caregivers, peers, rooms, etc.), while in BH B the children change their ward when they reach a certain age or developmental milestone (number of wards children experienced M(SD) = 1.1 (0.2) in BH A and 2.7 (1.1) in BH B). Our results support the hypothesis that the structural characteristics of institutional environment in the two baby homes are different, and that in comparison with BH B, the structural characteristics of BH A show more caregiving stability and consistency. The results also show that the interventions implemented in BH A within the St. Petersburg-USA Orphanage Research Project were maintained for many years after the project was finished. The specific features of R. J. Muhamedrahimov, I. A. Arincina, M. Y. Solodunova et al. an institutional caregiving environment should be taken into consideration in studies of the mental health and bio-behavioral development of children in institutions and postinstitutional families.

This study, utilizing whole-exome sequencing (WES), reports on a previously detected disease-related variant in the androgen receptor gene AR [c.528C>A (p.Ser176Arg)] and novel candidate variants in the DHCR24, BMPR1B, NODAL, and WDR48 genes detected in the genome of a 15-month-old child diagnosed with MPH, manifested as partial androgen insensitivity syndrome (AIS). 46,XY disorder of sexual development (DSD)-or male pseudohermaphroditism according to formerly used nomenclature-is a condition defined by the presence of female-like or incompletely differentiated external genitalia in an individual with a Y chromosome. It is the most diverse type of DSD concerning to both clinical manifestations and etiology. The molecular etiology of 46,XY DSD is almost always attributed to genetic lesions that might be delineated as cytogenic alterations and gene mutations. 1 The former is usually manifested