The 2D:4D digit ratio is commonly used as a surrogate possibly reflecting prenatal testosterone levels. Indirect evidence comes from studies investigating the association between 2D:4D and human characteristics that likely relate to prenatal testosterone. In children, sex-typed play reveals large sex differences early in development and an influence of prenatal testosterone is likely. Findings on the association between 2D:4D and children\'s sex-typed play are heterogeneous and other influences on the development of sex-typed play have been suggested, most of all social influences like siblings, their sex and birth order. The current study examined the association between right and left 2D:4D, a proposed surrogate for prenatal testosterone exposure, which was assessed in right and left hands of N = 505 6-month-old children, and sex-typed play behavior, which was evaluated 3.5 years later using the Pre-School Activities Inventory (PSAI), and the influence of siblings. To capture differential effects of siblings\' sex and birth order, dummy-coded variables were used reflecting having no siblings as well as older or younger sisters or brothers. Multiple regression models were used to investigate the association between PSAI scores and sex, right and left 2D:4D, being a singleton as well as having an older or younger sister or brother. It was shown that sex and having an older brother were significant predictors for sex-typed play. Effects were further disentangled by conducting separate regression analyses in boys and girls. In boys, a significant association between PSAI scores and having an older brother was revealed, in girls, no significant associations were found. Results are discussed highlighting the non-significant association between 2D:4D and children\'s sex-typed play, which weakens the applicability of 2D:4D as a surrogate reflecting influences of prenatal T. Further, the importance of social factors like siblings on children\'s sex-typed play is discussed.

This study investigates the direct and indirect effects of maternal and sibling relational intimacy on adolescents\' volunteering behaviors via their social responsibility values. Participants included two adolescents (50% female; M age = 14 years) and one parent (85% female; M age = 45 years) from 682 families (N = 2,046) from an ongoing longitudinal study. Adolescents self-reported their intimacy with mothers and siblings (Time 1), social responsibility values (Time 1), and volunteering (Times 1 and 2); parents reported on sociodemographic characteristics (i.e., gender, birth order, family income). Results from a structural equation model indicated that after accounting for adolescents\' earlier volunteering, both maternal and sibling intimacy were indirectly related to greater volunteering via social responsibility values. There were no significant direct effects from maternal or sibling intimacy to adolescents\' volunteering. Results indicate that both mothers and siblings are important in socializing prosocial and civic values and behaviors during adolescence.

Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the predictors of family quality of life (FQOL) is crucial for developing effective support systems and interventions.
OBJECTIVE: This study investigated the predictors that might influence the perception of families having a member with a disability regarding their quality of life (FQOL).
METHODS: The sample consisted of 320 family members from the Riyadh region of Saudi Arabia.
RESULTS: The overall results showed that participants\' satisfaction with FQOL was at a moderate level. Further results indicated that variables associated with severity, type of disability, and the mother\'s age and education were significant predictors of the FQOL.
CONCLUSIONS: These results emphasize the importance of considering the variables that impact FQOL, such as the severity and type of disability, and mother\'s related variables, when directing support to families with a member with a disability. The recommendations and limitations of the study were discussed.

BACKGROUND: While the literature has highlighted the immense challenges in caring for family members, it is still unclear what the needs of family carers of persons with intellectual disability and challenging behaviours are and what has worked for them. This study aims to examine 60 parents\' and siblings\' experiences in managing the challenging behaviours of their adult family member with intellectual disability whilst living at home.
METHODS: A qualitative grounded theory approach using semi-structured interviews will be adopted. Purposive sampling will be used to recruit family carers who live with adult persons with intellectual disability and use one community service in Hong Kong. Three special schools for persons with intellectual disability from northern China will be approached.
RESULTS: This study will aim to provide an in-depth understanding of the experiences of family carers and compare the different circumstances they face when managing the challenging behaviours of their adult relatives with intellectual disability in their family home.
CONCLUSIONS: Although this study targets adults with intellectual disability, the findings will provide a point of reference for adolescents and younger persons who exhibit demanding and challenging behaviours and live with their families. Recommendations can guide the development of appropriate strategies to strengthen services for family carers.

UNASSIGNED: This study investigates how social categories work and intersect in siblings bereaved by drug-related deaths\' (DRDs) stories about their relationships to their deceased brother or sister. The sociocultural embedded process of making meaning of the relationship with the deceased individual is essential in adapting to the loss. However, insight into such experiences of siblings bereaved by a DRD is scarce. Previous research has suggested that DRDs may be stigmatized life experiences for bereaved family members, and this paper furthers understanding of the experiences and issues involved in losing a sibling in a stigmatized death.
UNASSIGNED: An intersectional analysis is applied to interviews with 14 bereaved siblings. By investigating and displaying how different categories intertwine, various positionings are identified.
UNASSIGNED: Categorization of the deceased siblings as \"addicts\" constructs a troubled position. However, when \"addict\" intersects with the categories \"unique,\" \"sibling,\" and \"uncle,\" the troubled subject\'s position as an \"addict\" can be concealed.
UNASSIGNED: Normative conceptions of addiction and DRDs produce troubled subject positions. By intermingling the category of \"addict\" with other categories, less problematic positions are created. Still, intersections of categories can also construct further complexities of remorse and self-blame for the bereaved siblings.

A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high neurodevelopmental and psychiatric risk (ND-CNVs). Irritability is frequently observed in childhood neurodevelopmental conditions, yet its aetiology is largely unknown. Genetic variation may play a role, but there is a sparsity of studies investigating the presentation of irritability in young people with ND-CNVs. This study aimed to investigate whether there is a difference in irritability in young people with rare ND-CNVs compared to those without ND-CNVs, and to what extent irritability is associated with psychiatric diagnoses and cognitive ability (IQ). Irritability and broader psychopathology were assessed in 485 young people with ND-CNVs and 164 sibling controls, using the child and adolescent psychiatric assessment. Autism was assessed using the social communication questionnaire, and intelligence quotient (IQ) by the Wechsler abbreviated scale of intelligence. Fifty four percent of young people with ND-CNVs met the threshold for irritability; significantly more than controls (OR = 3.77, CI = 3.07-7.90, p = 5.31 × 10-11). When controlling for the presence of other psychiatric comorbidities, ND-CNV status was still associated with irritability. There was no evidence for a relationship between irritability and IQ. Irritability is an important aspect of the clinical picture in young people with ND-CNVs. This work shows that genetic variation is associated with irritability in young people with ND-CNVs, independent of psychiatric comorbidities or IQ impairment. Clinicians should be aware of this increased risk to inform management and interventions.

BACKGROUND: The Triggering Receptor Expressed on Myeloid Cells 2 protein (TREM2) plays a crucial role in various biological processes, including osteoclast differentiation, and disease-associated microglia (DAM) activation to regulate neuroinflammation, and phagocytosis in the brain. Genetic variations in TREM2 are implicated in neurodegenerative disorders, such as Nasu-hakola disease (NHD), characterized by bone lesions, neuropsychiatric disorders, and early-onset dementia.
METHODS: We studied 3 siblings with suspected NHD. Whole-exome sequencing was conducted on the proband to identify the possible genetic cause(s) and by Sanger sequencing to validate the identified variants in the two other affected siblings, a healthy sister, and the parents.
RESULTS: We identified a novel homozygous deletion (c.549del; p.(Leu184Serfs*5)) in TREM2. Our literature review reveals 16 TREM2 mutations causing early-onset dementia and bone lesions.
CONCLUSIONS: These findings, alongside previous research, elucidate the clinical spectrum of TREM2-related diseases, aiding accurate diagnosis and patient care. This knowledge is vital for understanding TREM2-dependent DAM and its involvement in the pathogenesis of neurodevelopmental disorders which can help to develop targeted therapies and improve outcomes for TREM2-affected individuals.

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Background: Research on bereavement after terrorism is limited and primarily aiming on short-term consequences.Objective: To better understand the long-term health consequences of terrorism, we studied bereaved parents and siblings eight years after the Utøya terrorist attack in Norway. We examined the participants\' symptom levels of prolonged grief (PG) and post-traumatic stress (PTS), as well as their psychosocial functioning and employment status.Method: Bereaved parents (n = 88) and siblings (n = 34) aged 19 and above (mean age  = 49.7 years, SD = 13.8 years, 59.8% female) completed the Inventory of Complicated Grief (ICG), the Impact of Event Scale-Revised (IES-R), and the Work and Social Adjustment Scale (WSAS) to assess PG, PTS, and functional impairment, respectively. In addition, information about employment status was obtained. The proportion of participants scoring above recommended thresholds on the ICG, IES-R, and WSAS was calculated. Differences between parents and siblings and gender differences on these measures were examined.Results: In total, 62.3% of the participants had scores on the ICG indicating a risk for prolonged grief, while 45.9% scored over cutoff on the IES. There was a high overlap between symptoms of PG and PTS. Females had significantly higher scores on both the ICG and the IES compared to males. There were no differences between parents and siblings regarding PG and PTS symptoms. One out of three showed severe functional impairment on the WSAS. Approximately 30% of all the bereaved were outside the labour force, and one third of the parents had become unable to work after the terrorist attack.Conclusion: Many bereaved parents and siblings, following the Utøya terror attack, report long-lasting health consequences with symptoms of PG and PTS and functional impairment. The results suggest a need for follow up of bereaved after a terror attack and identify family members in need of health services.
Eight years after the Utøya terrorist attack bereaved parents and siblings still report high levels of prolonged grief and post-traumatic stress symptoms.There were no differences between parents and siblings regarding prolonged grief and post-traumatic stress symptoms.Many bereaved are still suffering functional impairments. Post-traumatic stress symptoms are found to be an important predictor for functional impairments.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases. Notably, HED forms associated with variants in the EDA, EDAR, or EDARADD genes may exhibit similar phenotypes due to defects in a common signaling pathway. Proper interaction among the products of these genes is crucial for the activation of the nuclear factor (NF-κB) signaling pathway, which subsequently regulates the transcription of targeted genes. The EDARADD gene, in particular, harbors one of the rarest reported variants associated with HED.
METHODS: Five-and two-years-old brothers born into consanguineous parents were examined at our outpatient medical genetics clinic at Sanliurfa Training and Research Hospital, Turkey. Both displayed the same classical phenotypic features of HED. The elder had a very sparse dark and brittle hair, sparse eyebrows and eyelashes, conical upper and lower premolar teeth with hypodontia, widely spaced teeth, very dry skin, mildly prominent forehead, and periorbital wrinkles. The younger one showed the same, but less severe, clinical features. After thorough examination and patient history evaluation, targeted next-generation sequencing analysis yielded the novel homozygous insertion variant c.322_323insCGGGC p.(Arg108ProfsTer7) in EDARADD. The mutation has not been reported to date in the literature.
CONCLUSIONS: In this report, we present two siblings exhibiting classical HED symptoms and a novel insertion variant of the EDARADD gene, which leads to a frameshift introducing a stop codon. Both brothers inherited such mutation from their parents, who were heterozygous carriers of the same variant. The present study may shed light about the pathogenic mechanisms underlying HED, and expand the spectrum of EDARADD gene variants associated with this condition.