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Family
Kinds of Family Terms modified by Family Selected AbstractsFAMILY COURT REVIEW DEVELOPMENTSFAMILY COURT REVIEW, Issue 1 2005January 200 [source] FAMILY COURT REVIEW POLICY ON BOOK REVIEWSFAMILY COURT REVIEW, Issue 1 2005Article first published online: 18 FEB 200 [source] Factors associated with constructive staff,family relationships in the care of older adults in the institutional settingINTERNATIONAL JOURNAL OF EVIDENCE BASED HEALTHCARE, Issue 4 2006Emily Haesler BN PGradDipAdvNsg Abstract Background, Modern healthcare philosophy espouses the virtues of holistic care and acknowledges that family involvement is appropriate and something to be encouraged due to the role it plays in physical and emotional healing. In the aged care sector, the involvement of families is a strong guarantee of a resident's well-being. The important role family plays in the support and care of the older adult in the residential aged care environment has been enshrined in the Australian Commonwealth Charter of Residents' Rights and Responsibilities and the Aged Care Standards of Practice. Despite wide acknowledgement of the importance of family involvement in the healthcare of the older adult, many barriers to the implementation of participatory family care have been identified in past research. For older adults in the healthcare environment to benefit from the involvement of their family members, healthcare professionals need an understanding of the issues surrounding family presence in the healthcare environment and the strategies to best support it. Objectives, The objectives of the systematic review were to present the best available evidence on the strategies, practices and organisational characteristics that promote constructive staff,family relationships in the care of older adults in the healthcare setting. Specifically this review sought to investigate how staff and family members perceive their relationships with each other; staff characteristics that promote constructive relationships with the family; and interventions that support staff,family relationships. Search strategy, A literature search was performed using the following databases for the years 1990,2005: Ageline, APAIS Health, Australian Family and Society Abstracts (FAMILY), CINAHL, Cochrane Library, Dare, Dissertation Abstracts, Embase, MEDLINE, PsycINFO and Social Science Index. Personal communication from expert panel members was also used to identify studies for inclusion. A second search stage was conducted through review of reference lists of studies retrieved during the first search stage. The search was limited to published and unpublished material in English language. Selection criteria, The review was limited to studies involving residents and patients within acute, subacute, rehabilitation and residential settings, aged over 65 years, their family and healthcare staff. Papers addressing family members and healthcare staff perceptions of their relationships with each other were considered for this review. Studies in this review also included those relating to interventions to promote constructive staff,family relationships including organisational strategies, staff,family meetings, case conferencing, environmental approaches, etc. The review considered both quantitative and qualitative research and opinion papers for inclusion. Data collection and analysis, All retrieved papers were critically appraised for eligibility for inclusion and methodological quality independently by two reviewers, and the same reviewers collected details of eligible research. Appraisal forms and data extraction forms designed by the Joanna Briggs Institute as part of the QARI and NOTARI systematic review software packages were used for this review. Findings, Family members' perceptions of their relationships with staff showed that a strong focus was placed on opportunities for the family to be involved in the patient's care. Staff members also expressed a theoretical support for the collaborative process, however, this belief often did not translate to the staff members' clinical practice. In the studies included in the review staff were frequently found to rely on traditional medical models of care in their clinical practice and maintaining control over the environment, rather than fully collaborating with families. Four factors were found to be essential to interventions designed to support a collaborative partnership between family members and healthcare staff: communication, information, education and administrative support. Based on the evidence analysed in this systematic review, staff and family education on relationship development, power and control issues, communication skills and negotiating techniques is essential to promoting constructive staff,family relationships. Managerial support, such as addressing workloads and staffing issues; introducing care models focused on collaboration with families; and providing practical support for staff education, is essential to gaining sustained benefits from interventions designed to promote constructive family,staff relationships. [source] DEVELOPING CULTURALLY EFFECTIVE FAMILY-BASED RESEARCH PROGRAMS: IMPLICATIONS FOR FAMILY THERAPISTSJOURNAL OF MARITAL AND FAMILY THERAPY, Issue 3 2004William L. Turner Recently, some family scholars have developed greater sensitivity to the relative neglect of families of color in clinical and empirical research. Consequently, a proliferation of research elucidating many nuances of ethnic families has come to the forefront, containing a wealth of knowledge with useful implications for family therapists and other mental health providers. The findings of these studies hold enormously important implications for how family therapists can better engage and accommodate families of color in therapy: In this article we discuss some of the etiological and methodological issues associated with planning, conducting, and disseminating family-based prevention and intervention research programs with ethnic minority families. [source] ALL IN THE FAMILY: A BELATED RESPONSE TO KNUDSON-MARTIN'S FEMINIST REVISION OF BOWEN THEORYJOURNAL OF MARITAL AND FAMILY THERAPY, Issue 1 2002K. Blake Horne The first formal attempt at revising Bowen theory within the mariage and family therapy literature is represented in the work of Knudson-Martin (1994). Claiming that several of the theory's concepts are defined at odds with female development, Knudson-Martin (1994) reconceptualizes and expands Bowen theory to rectify these perceived shortcomings. In turn, we address several fundamental concerns with knudson-Martin's critique and revision of Bowen theory. An alternative representation of Bowen Theory, as well as its relationship to feminist thought, is put forth, Suggestions for the fields's future relationship to Bowen theory are also discussed. [source] LIFE TOGETHER: FAMILY, SEXUALITY AND COMMUNITY IN THE NEW TESTAMENT AND TODAYNEW BLACKFRIARS, Issue 1001 2005Adrian Edwards C.S.SP No abstract is available for this article. [source] A NEW MIDDLE JURASSIC APHID FAMILY (INSECTA: HEMIPTERA: STERNORRHYNCHA: SINOJURAPHIDIDAE FAM.PALAEONTOLOGY, Issue 3 2008CHINA, NOV.) FROM INNER MONGOLIA Abstract:, A new monotypic aphid family, Sinojuraphididae, is described from the Middle Jurassic of China. Its antennae and wing venation have very plesiomorphic structures, even more than in known Triassic taxa (e.g. 12 antennomeres, Cu with a very long stem, very narrow pterostigma), confirming the persistence of ancient, probably Triassic, lineages among Jurassic aphids. [source] THE FIRST FOSSIL PROSCOPIIDAE (INSECTA, ORTHOPTERA, EUMASTACOIDEA) WITH COMMENTS ON THE HISTORICAL BIOGEOGRAPHY AND EVOLUTION OF THE FAMILYPALAEONTOLOGY, Issue 2 2008SAM W. HEADSArticle first published online: 14 MAR 200 Abstract:,Eoproscopia martilli gen. et sp. nov. is described from the Early Cretaceous (Aptian) Crato Formation Lagerstätte of Ceará State, north-east Brazil. The new taxon is assigned to the extant family Proscopiidae and represents the first occurrence of the group in the fossil record. Eoproscopia is similar to crown group proscopiids in its stick-like habitus, elongate prothorax and absence of the cryptopleuron, but differs in the presence of well-developed wings, the short head with a small, simple fastigium, the prothoracic legs being inserted near the posterior margin of the prothorax, and the absence of spines on the metathoracic tibiae. The discovery of Eoproscopia extends the geological range of the family by approximately 110 myr and confirms the presence of stem-group proscopiids in the Atlantic rift zone of South America during the Early Cretaceous. [source] INSIDE/INTERIORS: CHARDIN'S IMAGES OF THE FAMILYART HISTORY, Issue 4 2005René Démoris This article examines afresh well-known paintings by Jean-Siméon Chardin that represent the domestic interior, and questions the extent to which they circumscribe a moral realm and invoke an ideal of ,happy families'. Chardin's families are rarely nuclear; rather they constitute complex and potentially dynamic households that include servants as well as parents and children. Through a close analysis of individual works, including still-life and figure subjects, this essay draws attention to the ambiguity of the domestic domain as a space of the presocial, of wild, untamed drives, and one in which social aspirations are occasionally played out. It reflects on the passions and desires of the domestic world, intimated by an artist usually associated with Enlightenment. [source] A NEW FAMILY OF DIVERGENCE MEASURES FOR TESTS OF FITAUSTRALIAN & NEW ZEALAND JOURNAL OF STATISTICS, Issue 2 2010K. Mattheou Summary The aim of this work is to investigate a new family of divergence measures based on the recently introduced Basu, Harris, Hjort and Jones (BHHJ) measure of divergence (Biometrika,85, 549,559). The new family is investigated in connection with hypothesis testing problems, and new test statistics are proposed. Simulations are performed to check the appropriateness of the proposed test statistics. [source] FUNCTIONAL DIVERSITY OF MAMMALIAN TYPE 2C PROTEIN PHOSPHATASE ISOFORMS: NEW TALES FROM AN OLD FAMILYCLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY, Issue 2 2008Gang Lu SUMMARY 1The Type 2C protein phosphatases (PP2C) represent a highly conserved gene family in the mammalian genome. Recent studies have revealed that PP2C isoforms possess unique patterns of tissue and subcellular distribution associated with diverse functionalities. 2The functional importance of PP2C isoforms has been shown in a plethora of signalling networks controlling cell differentiation, proliferation, growth, survival and metabolism. However, little is known about the regulatory mechanisms of PP2C at the molecular level. It is uncertain how PP2C isoforms are recruited, activated and inactivated during signalling transduction processes. 3In the present paper, an overview of the critical functions of individual PP2C isoforms in regulating cellular signalling events will be provided, along with our perspectives on the challenging issues to be addressed. It is clear that a better understanding of the complex biological effects elicited by specific signalling pathways involving PP2C isoforms has great potential for developing novel therapies for a variety of human diseases, including cancer, diabetes and neural disorders, as well as cardiovascular diseases. [source] Toward A Formalism for Conversation Protocols Using Joint Intention TheoryCOMPUTATIONAL INTELLIGENCE, Issue 2 2002Sanjeev Kumar Conversation protocols are used to achieve certain goals or to bring about certain states in the world. Therefore, one may identify the landmarks or the states that must be brought about during the goal,directed execution of a protocol. Accordingly, the landmarks, characterized by propositions that are true in the state represented by that landmark, are the most important aspect of a protocol. Families of conversation protocols can be expressed formally as partially ordered landmarks after the landmarks necessary to achieve a goal have been identified. Concrete protocols represented as joint action expressions can, then, be derived from the partially ordered landmarks and executed directly by joint intention interpreters. This approach of applying Joint Intention theory to protocols also supports flexibility in the actions used to get to landmarks, shortcutting protocol execution, automatic exception handling, and correctness criterion for protocols and protocol compositions. [source] The Sieve Model: An innovative process for identifying alternatives to custody evaluationsCONFLICT RESOLUTION QUARTERLY, Issue 3 2009Robert B. Silver This article reviews the development of the Sieve Model, conceived from dissatisfaction with adversarial processes that encouraged endless destructive fighting and depletion of financial and emotional family resources. Adversarial approaches discourage constructive problem solving and cooperation and are very hard on children. Rather than a piecemeal approach toward divorce, a systemic model was conceived. The Sieve Model is being implemented in the 20th Judicial Circuit of the State of Florida through differentiated case management, after a study revealed that protracted cases primarily involved disputes over children. Families are invited to use pertinent elements in an individualized fashion. Family law professionals are challenged to develop other solution-based efforts akin to mediation to assist families of divorce. The Sieve Model encourages participants to practice solving problems rather than creating them, decreasing divorce brutality and postjudgment conflicts. [source] The targets of violence committed by young offenders with alcohol dependence, marijuana dependence and schizophrenia-spectrum disorders: findings from a birth cohortCRIMINAL BEHAVIOUR AND MENTAL HEALTH, Issue 2 2002Louise Arseneault Background: Estimates of who is most at risk from violence by people with mental illness rest mainly on identified patient samples. This study, without such selection bias, examined the targets of violence committed by young adults with as-yet untreated alcohol dependence, marijuana dependence, or schizophrenia-spectrum disorders, to determine the extent to which their victims were co-residents or non-household members. Methods: In a total birth cohort of 21-year-olds (n = 956), past-year prevalence of alcohol dependence, marijuana dependence and schizophrenia-spectrum disorders were diagnosed using standardized DSM-III-R interviews. None of the people with schizophrenia-spectrum disorder has been hospitalized in the past year. Past-year violence and victim targets were measured using self-reports. Results: Compared with controls, cohort members with substance dependence or schizophrenia-spectrum disorders had higher prevalence and frequency rates of assault against co-residents, against non-household members, and also robbery and gang fights. Out of 39, five individuals with schizophrenia-spectrum disorder committed violent street crimes. Persons with substance dependence had similar proportions of violence against co-resident and non-household members, but persons with schizophrenia-spectrum disorders tended to victimize co-residents more than others. Conclusions: At the age when they are most likely to contribute to the community's violence burden, young untreated offenders with alcohol or marijuana dependence or with schizophrenia-spectrum disorders assault not only co-residents, but others as well, and commit violent street crimes. Families, schoolteachers and primary care physicians have an important potentially preventive role in early identification and treatment of the disorders. Copyright © 2002 Whurr Publishers Ltd. [source] Novel treatments for autistic spectrum disordersDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2005Susan E. Levy Abstract In no area of developmental pediatric practice is there more controversy regarding the choice of treatment than related to children with autistic spectrum disorders (ASD). Complementary and alternative medical therapies (CAM) are often elected because they are perceived as treating the cause of symptoms rather than the symptoms themselves. CAM used for autism can be divided by proposed mechanism: immune modulation, gastrointestinal, supplements that affect neurotransmitter function, and nonbiologic intervention. Secretin as a therapy for autism is discussed as an example of how a clinical observation rapidly grew to a widespread treatment before well-designed studies demonstrated absence of effect. The plausibility for behavioral effect was not substantiated by clinical studies. CAM used for treatment of autism is examined in terms of rationale, evidence of efficacy, side effects, and additional commentary. Families and clinicians need access to well-designed clinical evidence to assist them in choice of therapies. © 2005 Wiley-Liss, Inc. MRDD Research Reviews 2005;11:131,142. [source] Families and children with hearing loss: Grief and copingDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2003Ellen Kurtzer-White Abstract Parental coping with the diagnosis of their child's hearing impairment has not received a great deal of research attention, despite the evident importance of it. Parental coping has been changing with the inception of newborn screening as we move from a parent-initiated model of diagnosis to an institution-initiated model. Coping now begins without any preparation, and without any time for parents to "enjoy" their child as "normal." The grief models, based on the death experience, usually employed to describe parental reactions to the diagnosis may also be inappropriate. Death grief is terminable whereas parental grief is chronic. There is not sufficient research on the long-term effects of chronic grief and how that impacts on parent-child bonding. There is evidence that our screening endeavors have far outstripped our habilitation efforts, leaving parents with a diagnosis but without support. This gap must be closed. MRDD Research Reviews 2003;9:232,235. © 2003 Wiley-Liss, Inc. [source] Complementary and alternative medicine use in families of children with cerebral palsyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2003Edward A Hurvitz MD In order to assess patterns of usage of complementary and alternative medicine (CAM) in families of children with cerebral palsy (CP), 213 families with a child (0 to 18 years) with CP were recruited at the university medical center in Ann Arbor, MI, USA as part of a descriptive survey. Two hundred and thirty-five surveys were distributed. Mean age of the child was 8 years 6 months (SD 4y: 9mo) and 56% of the sample was male with 35% full-time independent ambulators, while the rest used an assistive device or a wheelchair. Fifty-four percent were in special education classrooms. Families were given a survey on functional status of the child with CP, CAM usage of the child and the parent, factors influencing the decision to use CAM, demographics, and clinical information. Of the families, 56%, used one or more CAM techniques. Massage therapy (25%) and aquatherapy (25%) were the most common. Children of families that used CAM were significantly younger (7y: 9mo, SD 4y: 7mo) than non-users (9y: 6mo, SD 4y: 6mo: t -test p < 0.01 two-tailed). Children with quadriplegic CP, with spasticity, and those who could not walk independently were more commonly exposed to CAM (Pearson's X2 [PX2] p=0.01 two-tailed; for mobility, odds ratio [OR] of 2.5 with regression). Mothers with a college degree had a greater tendency to use CAM for their child than those without (PX2p=0.01 two-tailed). Fathers of children who used CAM were older than fathers of those who did not (37y: 9mo versus 33y: 2mo, p=0.04 two-tailed). There was no significant difference between groups for mother's age, father's education, income, or for population of home town. Parents who used CAM for themselves were more likely to try CAM for their child (70% versus 47%, OR 2.1), and were much more likely to be pleased with the outcome (71% versus 42%, OR 3.5). Child's age (younger), lack of independent mobility, and parental use of CAM were the most significant predictive factors identified via logistic regression. [source] An Emergency Department Intervention to Increase Booster Seat Use for Lower Socioeconomic FamiliesACADEMIC EMERGENCY MEDICINE, Issue 4 2006Michael A. Gittelman MD Abstract Objectives: To evaluate the effectiveness of booster seat education within an emergency department (ED) setting for families residing in lower socioeconomic neighborhoods. Methods: This was a prospective, randomized study of families with children aged 4 to 7 years and weighing 40 to 80 lb who presented to a pediatric ED without a booster seat and resided in lower socioeconomic communities. Subjects were randomly assigned to one of three groups: 1) received standard discharge instructions, 2) received five-minute booster seat training, and 3) received five-minute booster seat training and free booster seat with installation. Automobile restraint practices were obtained initially and by telephone at one month. Results: A total of 225 children were enrolled. Before randomization in the study, 79.6% of parents reported that their child was usually positioned in the car with a lap/shoulder belt and 13.3% with a lap belt alone. Some parents (16.4%) had never heard of a booster seat, and 44.9% believed a lap belt was sufficient restraint. A total of 147 parents (65.3%) were contacted for follow-up at one month. Only one parent (1.3%) in the control group and four parents (5.3%) in the education group purchased and used a booster seat after their ED visit, while 55 parents (98.2%) in the education and installation group reported using the booster seat; 42 (75.0%) of these parents reported using the seat 100% of the time. Conclusions: Education in a pediatric ED did not convince parents to purchase and use booster seats; however, the combination of education with installation significantly increased booster seat use in this population. [source] European perspectives: a carer's viewACTA PSYCHIATRICA SCANDINAVICA, Issue 2001Ursula Brand Objective:,To present the work of the European Federation of Associations of Families of Mentally Ill People (EUFAMI) and discuss issues of concern to family carers. Method:,The problem areas identified and discussed by family carers are presented on the basis of questionnaire surveys organized by EUFAMI. Addresses of national organisations of family carers are included. Results:,A range of problem areas are identified; they include subsistence and welfare payments for the severely mentally ill, some shortage of general hospital units, problems of care co-ordination, issues of respect for family carers and family involvement. Conclusion:,The aim of best practice in mental health care throughout Europe has not yet been reached. Key activities of EUFAMI are aimed at empowerment of families and best practice in psychiatry in Europe. [source] Sex differences in schizophrenia, a review of the literatureACTA PSYCHIATRICA SCANDINAVICA, Issue 401 2000Dr. Alice Leung M.D. Objective: To comprehensively and critically review the literature on gender differences in schizophrenia. Method: An initial search of MEDLINE abstracts (1966,1999) was conducted using the terms sex or gender and schizophrenia, followed by systematic search of all relevant articles. Results: Males have consistently an earlier onset, poorer premorbid functioning and different premorbid behavioral predictors. Males show more negative symptoms and cognitive deficits, with greater structural brain and neurophysiological abnormalities. Females display more affective symptoms, auditory hallucinations and persecutory delusions with more rapid and greater responsivity to antipsychotics in the pre-menopausal period but increased side effects. Course of illness is more favorable in females in the short- and middle-term, with less smoking and substance abuse. Families of males are more critical, and expressed emotion has a greater negative impact on males. There are no clear sex differences in family history, obstetric complications, minor physical anomalies and neurological soft signs. Conclusion: This review supports the presence of significant differences between schizophrenic males and females arising from the interplay of sex hormones, neurodevelopmental and psychosocial sex differences. [source] Community Resilience and Volcano Hazard: The Eruption of Tungurahua and Evacuation of the Faldas in EcuadorDISASTERS, Issue 1 2002Graham A. Tobin Official response to explosive volcano hazards usually involves evacuation of local inhabitants to safe shelters. Enforcement is often difficult and problems can be exacerbated when major eruptions do not ensue. Families are deprived of livelihoods and pressure to return to hazardous areas builds. Concomitantly, prevailing socioeconomic and political conditions limit activities and can influence vulnerability. This paper addresses these issues, examining an ongoing volcano hazard (Tungurahua) in Ecuador where contextual realities significantly constrain responses. Fieldwork involved interviewing government officials, selecting focus groups and conducting surveys of evacuees in four locations: a temporary shelter, a permanent resettlement, with returnees and with a control group. Differences in perceptions of risk and health conditions, and in the potential for economic recovery were found among groups with different evacuation experiences. The long-term goal is to develop a model of community resilience in long-term stress environments. [source] Feuding Families: When Conflict Does a Family Firm GoodENTREPRENEURSHIP THEORY AND PRACTICE, Issue 3 2004Franz W. Kellermanns Using the conflict theory lens and insights from the family business literature, we develop a theoretical model concerning the effects of task, process, and relationship conflict in family firms. Family firms are characterized by different control structures and generational involvement. Accordingly, we discuss the expected effect control concentration has on task, process, and relationship conflict, and propose that generational involvement affects the importance of task and process conflict to a family firm's performance. Furthermore, our model suggests that relationship conflict moderates the outcomes of task and process conflict. The degree of relationship conflict in family firms is in turn influenced by altruism, which characterizes interactions among family members. [source] High Risk of Reading Disability and Speech Sound Disorder in Rolandic Epilepsy Families: Case,Control StudyEPILEPSIA, Issue 12 2007Tara Clarke Summary Purpose: Associations between rolandic epilepsy (RE) with reading disability (RD) and speech sound disorder (SSD) have not been tested in a controlled study. We conducted a case,control study to determine whether (1) RD and SSD odds are higher in RE probands than controls and (2) an RE proband predicts a family member with RD or SSD, hence suggesting a shared genetic etiology for RE, RD, and SSD. Methods: Unmatched case,control study with 55 stringently defined RE cases, 150 controls in the same age range lacking a primary brain disorder diagnosis, and their siblings and parents. Odds ratios (OR) were calculated by multiple logistic regression, adjusted for sex and age, and for relatives, also adjusted for comorbidity of RD and SSD in the proband. Results: RD was strongly associated with RE after adjustment for sex and age: OR 5.78 (95% CI: 2.86,11.69). An RE proband predicts RD in family members: OR 2.84 (95% CI: 1.38,5.84), but not independently of the RE proband's RD status: OR 1.30 (95% CI: 0.55,12.79). SSD was also comorbid with RE: adjusted OR 2.47 (95%CI: 1.22,4.97). An RE proband predicts SSD in relatives, even after controlling for sex, age and proband SSD comorbidity: OR 4.44 (95% CI: 1.93,10.22). Conclusions: RE is strongly comorbid with RD and SSD. Both RD and SSD are likely to be genetically influenced and may contribute to the complex genetic etiology of the RE syndrome. Siblings of RE patients are at high risk of RD and SSD and both RE patients and their younger siblings should be screened early. [source] Autosomal Dominant Inheritance of Centrotemporal Sharp Waves in Rolandic Epilepsy FamiliesEPILEPSIA, Issue 12 2007Bhavna Bali Summary Purpose: Centrotemporal sharp (CTS) waves, the electroencephalogram (EEG) hallmark of rolandic epilepsy, are found in approximately 4% of the childhood population. The inheritance of CTS is presumed autosomal dominant but this is controversial. Previous studies have varied considerably in methodology, especially in the control of bias and confounding. We aimed to test the hypothesis of autosomal dominant inheritance of CTS in a well-designed family segregation analysis study. Methods: Probands with rolandic epilepsy were collected through unambiguous single ascertainment. Siblings in the age range 4,16 years underwent sleep-deprived EEG; observations from those who remained awake were omitted. CTS were rated as present or absent by two independent observers blinded to the study hypothesis and subject identities. We computed the segregation ratio of CTS, corrected for ascertainment. We tested the segregation ratio estimate for consistency with dominant and recessive modes of inheritance, and compared the observed sex ratio of those affected with CTS for consistency with sex linkage. Results: Thirty siblings from 23 families underwent EEG examination. Twenty-three showed evidence of sleep in their EEG recordings. Eleven of 23 recordings demonstrated CTS, yielding a corrected segregation ratio of 0.48 (95% CI: 0.27,0.69). The male to female ratio of CTS affectedness was approximately equal. Conclusions: The segregation ratio of CTS in rolandic epilepsy families is consistent with a highly penetrant autosomal dominant inheritance, with equal sex ratio. Autosomal recessive and X-linked inheritance are rejected. The CTS locus might act in combination with one or more loci to produce the phenotype of rolandic epilepsy. [source] Coexistence of Idiopathic Rolandic Epilepsy and CSWS in Two FamiliesEPILEPSIA, Issue 10 2006Xavier De Tiège Summary:,Purpose: To report two families combining benign childhood epilepsy with centrotemporal spikes (BCECS) and cryptogenic epilepsy with continuous spike,waves during sleep (CSWS) in first-degree relatives. Methods: Clinical, EEG, and cerebral imaging data are described. Results: Family 1: The proband was 3 years old at epilepsy onset. First seizures were convulsive, with centrotemporal spikes on EEG. At age 5 years, he had complex partial seizures, psychomotor regression, and centrotemporal CSWS. [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET) showed left parietal hypermetabolism. After several antiepileptic drug (AED) trials, valproate (VPA) and ethosuximide (ESM) induced seizure remission, CSWS disappearance, and psychomotor improvement. Learning disabilities, however, persisted. Family history was remarkable for BCECS in his father. Family 2: The proband was 2 years old at epilepsy onset. First seizures were convulsive, with centrotemporal CSWS on EEG. Despite several AED trials including corticosteroids, focal negative myoclonia, atypical absences, and psychomotor regression occurred, leading to severe mental retardation. FDG-PET showed bilateral parietal hypermetabolism. Vagus nerve stimulator was implanted. Her family history was remarkable for BCECS in her father and febrile convulsions in infancy in her mother. Conclusions: These data suggest the existence of a common genetic basis between BCECS and cryptogenic epilepsies with CSWS. The higher expression in patients with CSWS could be related to other genetic or acquired factors. These data suggest that these epileptic syndromes constitute edges of a continuum. [source] Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex FamiliesEPILEPSIA, Issue 5 2004Carla Marini Summary: Purpose: In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur. We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance. Methods: Clinical and genealogic data were obtained on probands with IGE and family members with a history of seizures. Families were grouped according to the probands' IGE subsyndrome: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and IGE with tonic,clonic seizures only (IGE-TCS). The subsyndromes in the relatives were analyzed. Mutations in genes encoding ,1 and ,2 ,-aminobutyric acid (GABA)-receptor subunits, ,1 and ,1 sodium channel subunits, and the chloride channel CLC-2 were sought. Results: Fifty-five families were studied. 122 (13%) of 937 first- and second-degree relatives had seizures. Phenotypic concordance within families of CAE and JME probands was 28 and 27%, respectively. JAE and IGE-TCS families had a much lower concordance (10 and 13%), and in the JAE group, 31% of relatives had CAE. JME was rare among affected relatives of CAE and JAE probands and vice versa. Mothers were more frequently affected than fathers. No GABA-receptor or sodium or chloride channel gene mutations were identified. Conclusions: The clinical genetic analysis of this set of families suggests that CAE and JAE share a close genetic relation, whereas JME is a more distinct entity. Febrile seizures and epilepsy with unclassified tonic,clonic seizures were frequent in affected relatives of all IGE individuals, perhaps representing a nonspecific susceptibility to seizures. A maternal effect also was seen. Our findings are consistent with an oligogenic model of inheritance. [source] Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe EpilepsyEPILEPSIA, Issue 4 2003Ailsa McLellan Summary: ,Purpose: Mutations in genes coding for the ,4 and ,2 subunits of the neuronal nicotinic acetylcholine receptor receptor (CHRN) are known to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Here we examined the phenotypes in two families, from the same ethnic and geographic backgrounds, with ADNFLE as a result of mutations in these two different subunits of CHRN. Methods: All affected family members underwent a detailed clinical evaluation and review of available EEG, neuroimaging, and videotapes of seizures. The molecular study of family D is reported here; family S has a previously reported mutation in the ,2 subunit of CHRN. Results: A total of 16 individuals with ADNFLE were identified in the two families. In both families, seizure semiology, age at seizure onset, and the natural history of the seizure disorder was similar. Intrafamilial variation in terms of severity of epilepsy syndrome was present in both families. A significant number of individuals from each family had a history of psychological problems. The molecular study of family D revealed a Ser248Phe mutation in the ,4 subunit of CHRN. Conclusions: The epilepsy phenotype is not distinguishable in the two families who have ADNFLE as a result of mutations in genes coding for different CHRN subunits. This is likely to be due to the similar functional consequences of each mutation on the CHRN receptor. [source] Four New Families with Autosomal Dominant Partial Epilepsy with Auditory Features: Clinical Description and Linkage to Chromosome 10q24EPILEPSIA, Issue 1 2002Melodie R. Winawer Summary: ,Purpose: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of nonprogressive lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. The gene predisposing to this syndrome was localized to a 10-cM region on chromosome 10q24. We assessed clinical features and linkage evidence in four newly ascertained families with ADPEAF, to refine the clinical phenotype and confirm the genetic localization. Methods: We genotyped 41 individuals at seven microsatellite markers spanning the previously defined 10-cM minimal genetic region. We conducted two-point linkage analysis with the ANALYZE computer package, and multipoint parametric and nonparametric linkage analyses as implemented in GENEHUNTER2. Results: In the four families, the number of individuals with idiopathic epilepsy ranged from three to nine. Epilepsy was focal in all of those with idiopathic epilepsy who could be classified. The proportion with auditory symptoms ranged from 67 to 100%. Other ictal symptoms also were reported; of these, sensory symptoms were most common. Linkage analysis showed a maximum 2-point LOD score of 1.86 at (, = 0.0 for marker D10S603, and a maximum multipoint LOD score of 2.93. Conclusions: These findings provide strong confirmation of linkage of a gene causing ADPEAF to chromosome 10q24. The results suggest that the susceptibility gene has a differential effect on the lateral temporal lobe, thereby producing the characteristic clinical features described here. Molecular studies aimed at the identification of the causative gene are underway. [source] Experiences with a group intervention for adolescents with type 1 diabetes and their parentsEUROPEAN DIABETES NURSING, Issue 1 2008RN Løding RN Registered Nurse Abstract Background: Increased adolescent-parent engagement in diabetes-related tasks appears to decrease diabetes-related family conflict. Group intervention may be a good approach when caring for adolescents with chronic conditions, including diabetes. Aim: This article aims to describe how group intervention may be useful in the treatment of adolescents with type 1 diabetes. When these children enter puberty and become adolescents, it can become difficult. In many cases, family-related conflict has a negative impact on an adolescent's blood sugar levels and self-care behaviour. Method: 19 adolescents (age 13,17 years) and their parents participated in group intervention. Families were recruited from outpatient clinics in two centres in Middle-Norway. Separate groups met once a month for 1 year. All adolescents and parents completed a battery of self-report measures. In addition, HbA1c values were obtained five times from the adolescents' medical records. Results: In terms of metabolic control there was a significant decrease in HbA1c values in the girls studied. In adolescents of both sexes, the process of deterioration was stopped. Conclusion: The development of efficient interventions for this group of patients is highly needed. Our intervention was peer-oriented and psycho-educative. Although the sample size in this study was small, one may still consider that group intervention may improve parent-adolescent relationships. Results from the study also demonstrate that group intervention may improve metabolic control in girls, without deterioration in health-related quality-of-life. Copyright © 2008 FEND [source] Orbital Splitting and Pairing Energy in Open-Shell Organometallics: A Study of Two Families of 16-Electron Complexes [Cp2M] (M = Cr, Mo, W) and [CpM(PH3)] (M = Co, Rh, Ir)EUROPEAN JOURNAL OF INORGANIC CHEMISTRY, Issue 12 2005Rinaldo Poli Abstract The singlet,triplet gap for two families of 16-electron organometallic complexes has been examined in detail by DFT calculations at the B3LYP level with polarized basis sets on both metal and ligands. For the first family, the group 6 metallocenes (Cp2M with Cp = ,5 -C5H5 and M = Cr, Mo, W), the singlet,triplet gap (ES , ET) is always positive and decreases continuously on going from Cr to Mo to W. For the family of group 9 CpM(PH3), on the other hand, there is a decrease on going from Co to Rh, followed by a slight increase on going further to Ir. These trends have been analyzed in qualitative monoelectronic terms as a function of the competition between the pairing energy and the orbital gap. While the pairing energy decreases as expected in the order 3d >> 4d > 5d, the orbital gap varies in a different way for the two families and, though quantitatively less important, is responsible for the different trends. It is argued that changes in orbital gap are system-dependent for open-shell organometallic systems, thus it is not possible to establish a universal trend of singlet,triplet gaps for a homologous series of complexes with a group of transition metals. (© Wiley-VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2005) [source] | |||||||||||||||||||||||||||||||||||||||||||