Introduction Griscelli syndrome type 2 is a rare disorder charecterised by pigment dilution (silvery hair), variable immune deficiency, and tendency to develop a life threatening hemophagocytic ...syndrome. Presentation in neonatal life is even more rare. Materials and Methods These are three siblings to first cousin parents who presented with Griscelli syndrome in the neonatal life with dessimel outcome. Results J, A, S, are three siblings, two sisters and one brother born to first cousin parents. All had normal vaginal full term delivery. All presented on day one of life with pallor, silvery hair, and hepatosplenomegaly. Investigations revealed variable degrees of anemia & thrombocytopenia. BM revealed hemophagocytic syndrome. There was no HLA matched BM donor so they were treated conservatively. They had repeated admissions for infections and received several blood and platalet transfusion. They had stoem courses and died by two months of age. Conclusion This is probablly the largest series of Griscelli syndrome presenting in neonatal life. BM is the only hope fore this syndrome. Athorough family history is always helpfull in diagnosing difficult cases.
The role expectations of cross siblings varies across culture. Such expectations, while not rigidly prescribing actual behaviors nevertheless influences relations between brothers and sisters in ...observable ways. In South Asia, a cultural rhetoric of sororal sacrifice and support coupled with fraternal protection are commonplace. While such noble sibling roles are regularly transgressed they remain powerful idioms of the relationship and transgressions require appropriate cultural justification. In contrast, Japanese rhetorical roles lack such explicit sacrifice-protection expectations between cross sibling interactions and instead include more competitive and conflictual idealized models of cross sibling behaviors. Looking at narrative accounts of cross siblings in ancient texts in South Asia and Japan as well as contemporary rituals and observed sibling interactions, this paper argues that the cross sibling relationship must be understood as part of an assemblage of cultural idea systems which inform behaviors, beliefs and attitudes in individuals.
The primary purpose of this study was to examine whether social relationship factors are associated with trajectories of depressive symptoms from adolescence into emerging adulthood. Specifically, ...adolescent-parent communication with mothers and fathers, peer support, and sibling warmth and hostility were examined in relation to depressive symptoms for girls and boys. Adolescents (N = 372; Mage = 16.09; SD = .69; 55% female) from the Mid-Atlantic United States completed surveys in the spring of 2007, 2008, and 2009 and again in the fall of 2014 when they were emerging adults. Growth curve modeling results suggested that communication with mothers and fathers and peer support predicted lower levels of depressive symptoms in adolescence for girls. For boys, peer support predicted lower whereas sibling hostility predicted higher levels of depressive symptoms in adolescence. Further, adolescent-mother communication for girls and adolescent-father communication for boys predicted the decline in depressive symptoms into emerging adulthood. Both sibling warmth and hostility for girls, whereas only sibling hostility for boys, predicted less steep declines in depressive symptoms over time. Findings draw attention to differences in experiences with depressive symptoms by sex and the importance of social relationship factors in the lives of adolescents and emerging adults. Implications for intervention and prevention are discussed.
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CEKLJ, FFLJ, NUK, ODKLJ, PEFLJ, UPUK
Although sibling sexual abuse (SSA) is one of the most common forms of sexual abuse, it has been particularly neglected in previous research. Hence, characteristics of this form of abuse and its ...longer term implications are not well understood. The aims of the current review were to precisely characterize the phenomenon of SSA and to condense the implications known to date of SSA on survivors. We included 15 studies with a total sample size of 14,680 individuals. Our results indicate that SSA has some unequivocal features such as an early onset, an extended duration and frequency, and a particularly high intensity (i.e., involvement of coercion, force, superiority, and manipulation). Our findings also revealed that SSA is linked to later depression, anxiety, impaired self-esteem, and sexual functioning. The findings of the current review suggest that (1) SSA is common, (2) SSA has various negative effects on survivors’ mental health, and that (3) SSA and its implications have been and to date are marginalized in research and practice. Results are discussed with a special focus on clinical implications.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
En la anglosajona, sin embargo, no tuvo éxito. La primera razón que aduce ya implica que según Alberca le ha llegado la hora: "La autoficción simboliza, para bien y para mal, con basbastante ...exactitud el espíritu de una época, el de las cuatro posmodernas décadas (del post-68 a 2007), que acaban con la crisis económica de 2008, cuyo hito inaugural lo puso la quiebra de Lehman&Brothers" (p. 152). Mientras que Alberca caracteriza la autoficción como frívola, Domingo Ródenas de Moya sale en su defensa: "La autoficción no es un género "poco serio" (Darrieusecq 1996: 369-380), y menos una forma de escritura frívola sino todo lo contrario: es un modo de intensificar en el lector la sensación de que se enfrenta con los aspectos oscuros, perturbadores, conflictivos de la realidad ..." En la última contribución a la segunda parte, Daniel Mesa Gancedo presenta un corpus exhaustivo de lo que llama el "diario autoficcional" latinoamericano (con excepción de lo argentino).
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Background
There has been increasing interest in the potential for pre‐emptive interventions in the prodrome of autism, but little investigation as to their effect.
Methods
A two‐site, two‐arm ...assessor‐blinded randomised controlled trial (RCT) of a 12‐session parent‐mediated social communication intervention delivered between 9 and 14 months of age (Intervention in the British Autism Study of Infant Siblings‐Video Interaction for Promoting Positive Parenting), against no intervention. Fifty‐four infants (28 intervention, 26 nonintervention) at familial risk of autism but not otherwise selected for developmental atypicality were assessed at 9‐month baseline, 15‐month treatment endpoint, and 27‐ and 39‐month follow‐up. Primary outcome: severity of autism prodromal symptoms, blind‐rated on Autism Observation Schedule for Infants or Autism Diagnostic Observation Schedule 2nd Edition across the four assessment points. Secondary outcomes: blind‐rated parent–child interaction and child language; nonblind parent‐rated communication and socialisation. Prespecified intention‐to‐treat analysis combined estimates from repeated measures within correlated regressions to estimate the overall effect of the infancy intervention over time.
Results
Effect estimates in favour of intervention on autism prodromal symptoms, maximal at 27 months, had confidence intervals (CIs) at each separate time point including the null, but showed a significant overall effect over the course of the intervention and follow‐up period (effect size ES = 0.32; 95% CI 0.04, 0.60; p = .026). Effects on proximal intervention targets of parent nondirectiveness/synchrony (ES = 0.33; CI 0.04, 0.63; p = .013) and child attentiveness/communication initiation (ES = 0.36; 95% CI 0.04, 0.68; p = .015) showed similar results. There was no effect on categorical diagnostic outcome or formal language measures.
Conclusions
Follow‐up to 3 years of the first RCT of a very early social communication intervention for infants at familial risk of developing autism has shown a treatment effect, extending 24 months after intervention end, to reduce the overall severity of autism prodromal symptoms and enhance parent–child dyadic social communication over this period. We highlight the value of extended follow‐up and repeat assessment for early intervention trials.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UILJ, UKNU, UL, UM, UPUK
The objectives of this review are to highlight the impact of the first decade of high-risk (HR) infant sibling work in autism spectrum disorder (ASD) and to identify potential areas of translational ...focus for the next decade of research.
A group of clinicians and researchers in ASD working both inside and outside of the HR design met on a regular basis to review the infant sibling research, and came to an agreement on areas that had changed clinical practice and areas that had the potential to change practice with further research. The group then outlined several methodological and translational challenges that must be addressed in the next decade of research if the field is to reach its potential.
The review concluded that the HR design has yielded an understanding that ASD often, but not always, begins to emerge between 6 and 18 months, with early signs affecting social communication. Research using the HR design has also allowed a better understanding of the sibling recurrence risk (between 10% and 20%). Emerging areas of interest include the developmental trajectories of social communications skills in the early years, the expression of a milder phenotype in siblings not affected with ASD, and the possibility that early intervention with infant siblings may improve outcomes for those with ASD. Important challenges for the future include linking screening to intervention, collecting large sample sizes while ensuring cross-site reliability, and building in capacity for replication.
Although there are significant methodological and translational challenges for high-risk infant sibling research, the potential of this design to improve long-term outcomes of all children with ASD is substantial.
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