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Affected Relatives (affected + relative)

Distribution by Scientific Domains

Medical Sciences	71%

Selected Abstracts

A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force

EUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2006
A. Albanese chairman
To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. Computerized MEDLINE and EMBASE literature reviews (1966,1967 February 2005) were conducted. The Cochrane Library was searched for relevant citations. Diagnosis and classification of dystonia are highly relevant for providing appropriate management and prognostic information, and genetic counselling. Expert observation is suggested. DYT-1 gene testing in conjunction with genetic counselling is recommended for patients with primary dystonia with onset before age 30 years and in those with an affected relative with early onset. Positive genetic testing for dystonia (e.g. DYT-1) is not sufficient to make diagnosis of dystonia. Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11). A levodopa trial is warranted in every patient with early onset dystonia without an alternative diagnosis. Brain imaging is not routinely required when there is a confident diagnosis of primary dystonia in adult patients, whereas it is necessary in the paediatric population. Botulinum toxin (BoNT) type A (or type B if there is resistance to type A) can be regarded as first line treatment for primary cranial (excluding oromandibular) or cervical dystonia and can be effective in writing dystonia. Actual evidence is lacking on direct comparison of the clinical efficacy and safety of BoNT-A vs. BoNT-B. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for generalized or cervical dystonia, after medication or BoNT have failed to provide adequate improvement. Selective peripheral denervation is a safe procedure that is indicated exclusively in cervical dystonia. Intrathecal baclofen can be indicated in patients where secondary dystonia is combined with spasticity. The absolute and comparative efficacy and tolerability of drugs in dystonia, including anticholinergic and antidopaminergic drugs, is poorly documented and no evidence-based recommendations can be made to guide prescribing. [source]

Sharing life with a gluten-intolerant person , the perspective of close relatives

JOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 5 2007
A. Sverker
Abstract Background, Several studies indicate the importance of social support in the case of chronic disease. Aim, The aim was to explore dilemmas experienced by close relatives living with a person suffering from coeliac disease, and to describe the strategies they used to deal with these dilemmas. Methods, Twenty-three informants were interviewed. A systematic inductive qualitative method, the critical incident technique was used. Results, Disease-related worries included having bad conscience about not being affected by the disease, experiencing anxiety and witnessing the vulnerability of the affected relative in social situations. Dilemmas related to manage daily life were connected with increased domestic work, restricted freedom of action and the diseased person's preferential right of interpretation of health risks associated with the coeliac disease and deviations from the diet restrictions. Dilemmas related to disturbances in social life, concerned lack of information, knowledge and understanding. Different strategies were described to manage daily life. Conclusions, Close relatives experienced a variety of dilemmas that affected the situation of the whole family. The role of relatives in handling the coeliac disease with the diseased person in the everyday life might be underestimated, and to provide relatives with better knowledge regarding the disease might improve the situation also for patients. [source]

Family history information on essential tremor: Potential biases related to the source of the cases

MOVEMENT DISORDERS, Issue 2 2001
Elan D. Louis MD
Abstract The proportion of essential tremor (ET) cases that can be attributed to genetic factors is unknown; estimates range from 17,100%. One possible reason for this variability is that clinic and community cases may differ with regard to family history of ET. This is because clinic patients are self-selected and represent as few as 0.5% of all ET cases. Our goal was to determine whether ET cases ascertained from a clinic differed from those ascertained from a community in terms of the family history information that they provided. Subjects (57 clinic, 64 community) underwent a family history interview. Clinic cases were 4.73 times more likely to report an affected relative than were community cases. We conclude that there was a substantial difference between our clinic and community ET cases in terms of the information they provided regarding their family history. Selection and reporting biases could have accounted for this difference. Because of these biases, the source of the cases must be taken into consideration when investigators are trying to synthesize the widely variable results of studies that have estimated the genetic contribution to ET. © 2001 Movement Disorder Society. [source]

Analysis of Genetically Complex Epilepsies

EPILEPSIA, Issue 2005
Ruth Ottman
Summary:, During the last decade, great progress has been made in the discovery of genes that influence risk for epilepsy. However, these gene discoveries have been in epilepsies with Mendelian modes of inheritance, which comprise only a tiny fraction of all epilepsy. Most people with epilepsy have no affected relatives, suggesting that the great majority of all epilepsies are genetically complex: multiple genes contribute to their etiology, none of which has a major effect on disease risk. Gene discovery in the genetically complex epilepsies is a formidable task. It is unclear which epilepsy phenotypes are most advantageous to study, and chromosomal localization and mutation detection are much more difficult than in Mendelian epilepsies. Association studies are very promising for the identification of complex epilepsy genes, but we are still in the earliest stages of their application in the epilepsies. Future studies should employ very large sample sizes to ensure adequate statistical power, clinical phenotyping methods of the highest quality, designs and analytic techniques that control for population stratification, and state-of-the-art molecular methods. Collaborative studies are essential to achieve these goals. [source]

Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families

EPILEPSIA, Issue 5 2004
Carla 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]

The genetics of anorexia nervosa collaborative study: Methods and sample description

INTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 4 2008
Walter H. Kaye MD
Abstract Objective: Supported by National Institute of Mental Health (NIMH), this 12-site international collaboration seeks to identify genetic variants that affect risk for anorexia nervosa (AN). Method: Four hundred families will be ascertained with two or more individuals affected with AN. The assessment battery produces a rich set of phenotypes comprising eating disorder diagnoses and psychological and personality features known to be associated with vulnerability to eating disorders. Results: We report attributes of the first 200 families, comprising 200 probands and 232 affected relatives. Conclusion: These results provide context for the genotyping of the first 200 families by the Center for Inherited Disease Research. We will analyze our first 200 families for linkage, complete recruitment of roughly 400 families, and then perform final linkage analyses on the complete cohort. DNA, genotypes, and phenotypes will form a national eating disorder repository maintained by NIMH and available to qualified investigators. © 2008 by Wiley Periodicals, Inc. Int J Eat Disord 2008 [source]

Estimating Disease Prevalence Using Relatives of Case and Control Probands

BIOMETRICS, Issue 1 2010
Kristin N. Javaras
Summary We introduce a method of estimating disease prevalence from case,control family study data. Case,control family studies are performed to investigate the familial aggregation of disease; families are sampled via either a case or a control proband, and the resulting data contain information on disease status and covariates for the probands and their relatives. Here, we introduce estimators for overall prevalence and for covariate-stratum-specific (e.g., sex-specific) prevalence. These estimators combine the proportion of affected relatives of control probands with the proportion of affected relatives of case probands and are designed to yield approximately unbiased estimates of their population counterparts under certain commonly made assumptions. We also introduce corresponding confidence intervals designed to have good coverage properties even for small prevalences. Next, we describe simulation experiments where our estimators and intervals were applied to case,control family data sampled from fictional populations with various levels of familial aggregation. At all aggregation levels, the resulting estimates varied closely and symmetrically around their population counterparts, and the resulting intervals had good coverage properties, even for small sample sizes. Finally, we discuss the assumptions required for our estimators to be approximately unbiased, highlighting situations where an alternative estimator based only on relatives of control probands may perform better. [source]