Strachan’s syndrome in the UK population Kramarz Caroline; S Carr Aisling; Gosal, David ...
Journal of neurology, neurosurgery and psychiatry,
11/2023, Letnik:
94, Številka:
Suppl 1
Journal Article
Recenzirano
IntroductionStrachan’s syndrome was originally described in Jamaican plantation workers in 1887. Affected individuals exhibit sensory, optic and auditory neuropathy. A nutritional cause has been ...suggested, and supported given its similarities to other endemic neuropathies, including in Cuba, Tanzania and Somalia. It is commonly seen in British Black African and Caribbean individuals, including siblings, following dietary restriction or acute illness leading to catabolic stress.MethodsThis study aims to characterise the clinical features and genetic profiles of a cohort of UK patients with Strachan’s syndrome and to increase recognition of the syndrome amongst UK neurologists.ResultsThirty patients including two sets of unrelated siblings were identified with a clinical diagnosis of Strachan’s syndrome. Plasma acylcarnitine and urine organic acid profiles measured acutely revealed elevated short, medium and long chain acyl carnitines. Muscle biopsies revealed a reduction in mito- chondrial DNA copy number and ragged red fibres in some individuals. Perivascular inflammatory cell infiltrate was evident in sural nerve biopsies.ConclusionStrachan’s syndrome may result from riboflavin deficiency. The occurrence of the syndrome in siblings and high prevalence in the UK Jamaican community suggests a genetic predisposition. We propose a low index of suspicion and early treatment with high dose B vitamins and riboflavin.
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.
Objectives Sickness absence (SA) is an important measure of work-related health. Early family factors are important determinants of SA, though little is known about how siblings influence risk of SA. ...We assessed whether the risk of SA is associated with sibling's SA. We also explored underlying causes by examining sibling SA associations in sibling pairs of varying degrees of similarity. Methods The study population was all individuals born in Norway between 1967 and 1976. We identified 215 106 employed individuals with at least one sibling. Our study outcome was first SA during 2001–2003. The main study determinant was sibling SA during 2000, and covariates were gender, type of sibship, type of SA, and both siblings' educational level. We examined the association of a sibling having an SA during 2001 with the index person's likelihood of SA during the following 3 years. Results The 3-year risk of at least one absence was 31.8% (N=65 718). The presence of sibling SA conferred a RR for index person's SA of 1.41 for men (95% CI 1.37 to 1.45) and 1.22 for women (95% CI 1.19 to 1.25). Higher RRs were seen when siblings were more similar. RRs were higher when siblings had the same educational level than if siblings had different educational level. RRs were higher for twins than full siblings, which again were higher than for half siblings. Conclusions Risk of SA is associated with sibling SA, and there is a pattern suggesting that the association is stronger when siblings are more similar.
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.
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.
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).
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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