Résilience familiale : revue systématique des écrits qualitatifs sur le combat familial face au cancer pédiatrique

Essai doctoral présenté à la Faculté des arts et des sciences en vue de l’obtention du grade de doctorat en psychologie, option clinique

"Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure"

Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10–15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LODmax of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.

The Autoimmune Tautology: From Polyautoimmunity and Familial Autoimmunity to the Autoimmune Genes

Autoimmune diseases (ADs) are chronic conditions initiated by the loss of immunological tolerance to self-antigens and represent a heterogeneous group of disorders that afflict specific target organs ormultiple organ systems [1]. The chronic nature of these diseases places a significant burden on the utilization of medical care, direct and indirect economic costs, and quality of life. The fact that ADs share several clinical signs and symptoms (i.e., subphenotypes), physiopathological mechanisms, and genetic factors has been called autoimmune tautology and indicates that they have common mechanisms

La pedagogía hospitalaria frente a un niño con pronóstico fatal : reflexiones en torno a la necesidad de una formación profesional específica.

Resumen basado en el del autor

Students’ perception of the safety and value of a herbal vs. a conventional medicine for treating insomnia

University students suffer from variable sleep patterns including insomnia;[1] furthermore, the highest incidence of herbal use appears to be among college graduates.[2] Our objective was to test the perception of safety and value of herbal against conventional medicine for the treatment of insomnia in a non-pharmacy student population. We used an experimental design and bespoke vignettes that relayed the same effectiveness information to test our hypothesis that students would give higher ratings of safety and value to herbal product compared to conventional medicine. We tested another hypothesis that the addition of side-effect information would lower people’s perception of the safety and value of the herbal product to a greater extent than it would with the conventional medicine.

Neural processing of reward and punishment in young people at increased familial risk of depression

Background Abnormalities in the neural representation of rewarding and aversive stimuli have been well-described in patients with acute depression, and we previously found abnormal neural responses to rewarding and aversive sight and taste stimuli in recovered depressed patients. The aim of the present study was to determine whether similar abnormalities might be present in young people at increased familial risk of depression but with no personal history of mood disorder. Methods We therefore used functional magnetic resonance imaging to examine the neural responses to pleasant and aversive sights and tastes in 25 young people (16–21 years of age) with a biological parent with depression and 25 age- and gender-matched control subjects. Results We found that, relative to the control subjects, participants with a parental history of depression showed diminished responses in the orbitofrontal cortex to rewarding stimuli, whereas activations to aversive stimuli were increased in the lateral orbitofrontal cortex and insula. In anterior cingulate cortex the at-risk group showed blunted neural responses to both rewarding and aversive stimuli. Conclusions Our findings suggest that young people at increased familial risk of depression have altered neural representation of reward and punishment, particularly in cortical regions linked to the use of positive and negative feedback to guide adaptive behavior.

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Population and Computational Analysis of the MGEA6 P521A Variation as a Risk Factor for Familial Idiopathic Basal Ganglia Calcification (Fahr`s Disease)

Familial idiopathic basal ganglia calcification, also known as ""Fahr`s disease"" (FD), is a neuropsychiatric disorder with autosomal dominant pattern of inheritance and characterized by symmetric basal ganglia calcifications and, occasionally, other brain regions. Currently, there are three loci linked to this devastating disease. The first one (IBGC1) is located in 14q11.2-21.3 and the other two have been identified in 2q37 (IBGC2) and 8p21.1-q11.13 (IBGC3). Further studies identified a heterozygous variation (rs36060072) which consists in the change of the cytosine to guanine located at MGEA6/CTAGE5 gene, present in all of the affected large American family linked to IBGC1. This missense substitution, which induces changes of a proline to alanine at the 521 position (P521A), in a proline-rich and highly conserved protein domain was considered a rare variation, with a minor allele frequency (MAF) of 0.0058 at the US population. Considering that the population frequency of a given variation is an indirect indicative of potential pathogenicity, we screened 200 chromosomes in a random control set of Brazilian samples and in two nuclear families, comparing with our previous analysis in a US population. In addition, we accomplished analyses through bioinformatics programs to predict the pathogenicity of such variation. Our genetic screen found no P521A carriers. Polling these data together with the previous study in the USA, we have now a MAF of 0.0036, showing that this mutation is very rare. On the other hand, the bioinformatics analysis provided conflicting findings. There are currently various candidate genes and loci that could be involved with the underlying molecular basis of FD etiology, and other groups suggested the possible role played by genes in 2q37, related to calcium metabolism, and at chromosome 8 (NRG1 and SNTG1). Additional mutagenesis and in vivo studies are necessary to confirm the pathogenicity for variation in the P521A MGEA6.

Women's perceptions of familial aspects of breast cancer

Women’s understanding of familial aspects of breast cancer was examined using both focus groups and interviews. The studies covered issues related to perceptions of breast cancer risk factors, perceived breast cancer risk, understanding of risk information, and family history of breast cancer as a risk factor. Study 1 consisted of four focus group discussions with women from the general community. Study 2 comprised ten face-to-face interviews with women who had a family history of breast cancer. The results in combination indicate a fairly high level of awareness of family history as a risk factor for breast cancer. However, the definition of a familial history of breast cancer differed between the groups, with those without a family history being more inclusive than those with such a history. The paper concludes with suggestions for use by those developing resources materials for those with a familial history of breast cancer.

The prevalence and selected characteristics of non-fatal opioid overdoses attended by ambulance in Australia

Key Points
1. Ambulance attendance at non-fatal opioid overdose is a common event in mainland Australia (among heroin users in particular).
2. The monthly rate of non-fatal opioid overdose attended by ambulance was generally highest in Victoria (Melbourne) followed by NSW with the rates substantially lower in the remaining mainland states over the period Jan  1999 - Feb 2001.
3. Non-fatal opioid overdose victims were most likely to be male in all states with the proportion of males highest in Victoria (77%).
4. Non-fatal opioid overdose victims were aged around 28 years with ages lowest in WA (26) and highest in NSW (30).
5. The rates of transportation varied according to ambulance service practice across the states with around 94% of cases transported in WA and around 19% and 30% of cases transported in Melbourne and NSW respectively.

Multi-type maltreatment : relationships between familial characteristics, maltreatment and adjustment of children and adults

This thesis examines the nature, extent and impact of multiple forms of maltreatment (multi-type maltreatment) from within a developmental victimological framework. The interrelationships between sexual abuse, physical abuse, psychological maltreatment, neglect, and witnessing family violence are assessed. The role of family variables in predicting maltreatment and the relative contribution of child maltreatment and family variables to adjustment are evaluated. Risk factors for multi-type maltreatment, and the relationship between multi-type maltreatment and adjustment are explored. The major theories of child development are reviewed. As well as exploring the relevance of developmental theories to understanding the impact of child maltreatment, factors influencing the emergence of child psychopathology are reviewed from a developmental psychopathology perspective. Ecological and developmental perspectives on how child maltreatment translates into the behavioural and emotional adjustment problems of children are integrated in the Child Maltreatment: Risk and Protection Model. After exploring some of the relevant conceptual issues, the literature on the prevalence and impact of each maltreatment type is reviewed, and the literature on multi-type maltreatment critiqued. Methodological and ethical concerns with the conduct of research in the field of child maltreatment using direct assessment of children led to the need for an instrument to assess parent perceptions of each of the types of abuse and neglect, as well as adult retrospective reports. Data are presented from two cross-sectional questionnaire-based studies using the Parent and Adult versions of the Family and Life Experiences Questionnaire which was designed to assess perceptions of children's experiences of sexual abuse, physical abuse, psychological maltreatment, neglect and witnessing family violence. Problems with the isolated focus of research on single forms of child maltreatment are addressed by the inclusion of each of these forms of child maltreatment within a single research design. Respondents for both studies were volunteers recruited from counselling agencies, medical, community health, child care and fitness centres and a first year psychology course. Parents (N=50) described their perceptions of primary school children's family characteristics, experiences of maltreatment and adjustment. Children's behavioural adjustment (internalising and externalising), sexual behaviours, emotions, self-esteem, gender identity, family adaptability and cohesion, parental traditionality, parental sexual punitiveness, interparental relationship satisfaction, and demographic characteristics are assessed in the study of Parents' perceptions. A large degree of overlap between the different types of abuse and neglect was found, with a high proportion of parents describing children's experiences of multiple forms of child maltreatment. Using both maltreatment and family characteristics to predict internalising behaviour problems, neglect and family cohesion were the only unique predictors. Family adaptability and cohesion were the only unique predictors of externalising behaviour problems. Physical and sexual abuse were not predicted from family characteristics; neglect was predicted, but no variables provided unique prediction. Unique predictors of psychological maltreatment were family cohesion, parental sexual punitiveness and divorce. Divorce was the only variable with significant unique prediction of the child witnessing family violence. Family background and family functioning were found to predict some forms of maltreatment, but to also be important factors mediating the adjustment of children, independent of maltreatment. The results are interpreted within an ecological framework, integrating risk factors for maltreatment with experiences of abuse and neglect and subsequent adjustment in childhood. Retrospective reports of adults' (N=175) own childhood family characteristics, experiences of maltreatment, and reports of their current adjustment are also studied. Included with the adult version of the FLEQ were the Trauma Symptom Checklist-40, Rosenberg's Self-esteem Scale, and the Family and Adaptability and Cohesion Evaluation Scale-II. Similar results were found in the in the Adult Study. As hypothesised, adult retrospective reports of the five different types of child maltreatment were found to be highly intercorrelated. Family characteristics predicted maltreatment and adjustment scores and discriminated between single and multi-type maltreatment. Maltreatment scores also predicted adult adjustment. As the number of maltreatment types increased, there was an increase in the number of adjustment problems reported. Alternate hypotheses regarding the possible operation of mediating and moderating processes in the relationships between family characteristics, maltreatment and the adjustment of adults were assessed. Finally, the results of these investigations are discussed and interpreted in the light of extant findings previously reviewed. Data from the two major empirical studies are used to demonstrate the overlap between different child maltreatment categories, and the extent and impact of multi-type maltreatment. The results show that children are vulnerable to more than one type of maltreatment. Individuals who experience a number of different forms of maltreatment had greater adjustment problems than those experiencing only one or two different types of abuse or neglect. Dysfunctional families place children at risk of child maltreatment. Negative family characteristics lead to adjustment problems in children and adults. The type of maltreatment having the most damaging effect on children was neglect, and in the long-term, sexual abuse. A multi-dimensional approach to prevention and intervention needs to be adopted, based on the co-morbidity of maltreatment types, and the likelihood of children experiencing further abuse or neglect of a different type. Dysfunctional family dynamics which place children at risk of multi-type maltreatment, and mediate the effects of maltreatment on adjustment, need to be specifically targeted with support and family intervention strategies. Risk-assessment measures used by Child Protection workers must include adequate knowledge of the inter-relationships between maltreatment types, and the particularly negative impact on adjustment of experiencing many forms of abuse or neglect. Suggestions for future clinical and research work in the area of child maltreatment are developed. The importance of assessing all forms of maltreatment when examining the relationships of maltreatment to adjustment is emphasised. It is recommended that prevention and intervention strategies acknowledge the interrelationships between maltreatment types.