Family History Research Research Articles

J36 Juvenile Huntington Disease In Voronezh Families

Juvenile Huntington disease (JHD) amounts 10% of all Huntington disease (HD) cases and characterised by the manifests before 20, with a predominance akinesia and rigidity and progressive course of the disease. Although HD has an autosomal dominant pattern of inheritance, JHD in most cases is paternal inheritance with anticipation and the expansion of CAG trinucleotide repeats >60 in the IT15 gene located on chromosome 4p16.3; however, atypical cases exist, and maternal inheritance is possible. We present 6 (4 women and 2 men) JHD cases confirmed by DNA, where the number of CAG repeats varied from 60 till 66. All the patients had MRI which showed varying degrees of severity substitution hydrocephalus. Family nature of the disease was found in four cases (three maternal and one paternal inheritance). Two cases were not familial, but it is known that the mother did not have HD, and the father of one patient died at 46, and the other does not have information about his father. Four patients had akinetic-rigid form with onset between 12–19, three of them with cognitive decline. Two patients had a hyperkinetic form and cognitive decline. Diagnosis in 4 familial cases did not cause problems, although three of them had atypical maternal inheritance. Two isolated JHD cases were supposed 3 and 10 years after its onset that may indicate underestimation of JHD in practice. JHD probability should be kept in mind, even in cases with no family history, progressive akinetic-rigidy, choreic movements and cognitive decline DNA research on HD should be included.

Association between parental psychopathology and suicidal behavior among adult offspring: results from the cross-sectional South African Stress and Health survey

BackgroundPrior studies have demonstrated a link between parental psychopathology and offspring suicidal behavior. However, it remains unclear what aspects of suicidal behavior among adult offspring are predicted by specific parental mental disorders, especially in Africa. This study set out to investigate the association between parental psychopathology and suicidal behavior among their adult offspring in a South African general population sample.MethodParental psychopathology and suicidal behavior in offspring were assessed using structured interviews among 4,315 respondents from across South Africa. The WHO CIDI was used to collect data on suicidal behavior, while the Family History Research Diagnostic Criteria Interview was used to assess prior parental psychopathology. Bivariate and multivariate survival models tested the associations between the type and number parental mental disorders (including suicide) and lifetime suicidal behavior in the offspring. Associations between a range of parental disorders and the onset of subsequent suicidal behavior (suicidal ideation, plans, and attempts) among adult offspring were tested.ResultsThe presence of parental psychopathology significantly increased the odds of suicidal behavior among their adult offspring. More specifically, parental panic disorder was associated with offspring suicidal ideation, while parental panic disorder, generalized anxiety disorder and suicide were significantly associated with offspring suicide attempts. Among those with suicidal ideation, none of the tested forms of parental psychopathology was associated with having suicide plans or attempts. There was a dose–response relationship between the number of parental disorders and odds of suicidal ideation.ConclusionsParental psychopathology increases the odds of suicidal behavior among their adult offspring in the South African context, replicating results found in other regions. Specific parental disorders predicted the onset and persistence of suicidal ideation or attempts in their offspring. Further research into these associations is recommended in order to determine the mechanisms through which parent psychopathology increases the odds of suicidal behavior among offspring.

Supporting the Genealogical Document Transcription Process

Lately, genealogy has been becoming a new popular activity and has increasing interest due to the easy access to heritage documentation on internet and digital documentation. The main interesting information sources for genealogy research are different kinds of genealogical documents (census, church vital records, wills, …). In Spain, several projects to digitalize heritage and genealogical documentation have developed recently, in order to improve its access and to preserve its conservation state. Such digital information is useful, but it would be even more useful to have its transcription in a persistent and searchable support like databases or web repositories. However, there not exist any standard proposal of what must be the contents of these database repositories. In this paper the authors describe main characteristics of a tool to support the transcription process of genealogical documentation. This tool allows for easy, intuitive and fast transcription of genealogical documentation, in agreement with the contents of each different kind of genealogical documents. Given an model describing a genealogical document structure and contents, our tool supports the user to transcribe the document contents. The authors also propose a conceptual schema to model and to describe, in a generic and uniform way, the main contents of such genealogical documentation of interest for genealogy and family history research. This model should be a first step to have a reference model to describe heritage documents, to facilitate the transcription process and to share transcribed data among different researchers and databases.

The Genealogy Craze: Authoring an Authentic Identity through Family History Research

As the second most popular use of the internet, genealogy or family history research has become and is continuing to grow as a widespread, investigative life-writing practice. More than a benign hobby practised in the dusty basements of public archives and libraries, genealogy research is engaged in asking provocative questions about identity, authenticity, history, responsibility, and belonging. However, despite the significant interest in popular genealogy research there has been little academic writing devoted to exploring and analysing the pursuit. Julia Watson's 1996 call to question whether genealogy and autobiography are ‘incompatible frames of reference’ has gone mostly unheard (316). Surveying texts such as Tom Hayden's memoir Irish on the Inside: In Search of the Soul of Irish America (2001) and Bryan Sykes' history/mythology Blood of the Isles: Exploring the Genetic Roots of our Tribal History (2006), this interdisciplinary essay seeks to remedy such an absence, by framing genealogical research as an identity-forming intervention into the political present.

Investigating the information-seeking behaviour of genealogists and family historians

People are increasingly investigating their family history (or genealogy) as part of their everyday information-seeking activities. This paper provides insight into this behaviour and presents a new conceptual model that captures the stages of activity carried out during people’s lifelong family history research. The model offers a multi-phase view of the research process, intended to illustrate: (a) the different research phases themselves; (b) the inter-relationship between phases; (c) distinct phase-specific behaviours; and (d) phase-specific resource preferences. Data collected from amateur family historians by interview and questionnaire has helped to validate the model and provide insights into the information resources used. The findings complement existing knowledge about family history research and will benefit: family historians as they seek to navigate within the research process; providers of genealogical resources as they seek to better support users; and academics as they study information-seeking behaviours in various contexts.

Parent psychopathology and offspring mental disorders: Results from the WHO World Mental Health Surveys

Associations between specific parent and offspring mental disorders are likely to have been overestimated in studies that have failed to control for parent comorbidity. To examine the associations of parent with respondent disorders. Data come from the World Health Organization (WHO) World Mental Health Surveys (n = 51 507). Respondent disorders were assessed with the Composite International Diagnostic Interview and parent disorders with informant-based Family History Research Diagnostic Criteria interviews. Although virtually all parent disorders examined (major depressive, generalised anxiety, panic, substance and antisocial behaviour disorders and suicidality) were significantly associated with offspring disorders in multivariate analyses, little specificity was found. Comorbid parent disorders had significant sub-additive associations with offspring disorders. Population-attributable risk proportions for parent disorders were 12.4% across all offspring disorders, generally higher in high- and upper-middle- than low-/lower-middle-income countries, and consistently higher for behaviour (11.0-19.9%) than other (7.1-14.0%) disorders. Parent psychopathology is a robust non-specific predictor associated with a substantial proportion of offspring disorders.

Are atypical depression, borderline personality disorder and bipolar II disorder overlapping manifestations of a common cyclothymic diathesis?

The constructs of atypical depression, bipolar II disorder and borderline personality disorder (BPD) overlap. We explored the relationships between these constructs and their temperamental underpinnings. We examined 107 consecutive patients who met DSM-IV criteria for major depressive episode with atypical features. Those who also met the DSM-IV criteria for BPD (BPD+), compared with those who did not (BPD-), had a significantly higher lifetime comorbidity for body dysmorphic disorder, bulimia nervosa, narcissistic, dependent and avoidant personality disorders, and cyclothymia. BPD+ also scored higher on the Atypical Depression Diagnostic Scale items of mood reactivity, interpersonal sensitivity, functional impairment, avoidance of relationships, other rejection avoidance, and on the Hopkins Symptoms Check List obsessive-compulsive, interpersonal sensitivity, anxiety, anger-hostility, paranoid ideation and psychoticism factors. Logistic regression revealed that cyclothymic temperament accounted for much of the relationship between atypical depression and BPD, predicting 6 of 9 of the defining DSM-IV attributes of the latter. Trait mood lability (among BPD patients) and interpersonal sensitivity (among atypical depressive patients) appear to be related as part of an underlying cyclothymic temperamental matrix.

The Aboriginal Biographical Index in the Library of the Australian Institute of Aboriginal and Torres Strait Islander Studies: A Research Aid

In 1982 Laurie Parkes and Diane Barwick announced the beginning of a national Aboriginal biographical register at the Australian Institute of Aboriginal Studies.' The register (to become known later as the Aboriginal Biographical Index) was intended to he an important record of the achievements of Aboriginal and Torres Strait Islander people, and a much needed resource for family and community history research. In 1982 the Index comprised 1,100 card entries recording biographical information about individuals and families.

Affective instability, family history of mood disorders, and neurodevelopmental disturbance.

The association between affective instability and both family history of mood disorders and signs of neurodevelopmental disturbance was examined in a sample of 303 adults. Affective instability was measured using the borderline personality disorder "affective instability due to a marked reactivity of mood" diagnostic criterion as assessed dimensionally using the Personality Disorder Interview--IV. Participants were interviewed concerning family history of mood disorders, with family history coded using the Family History Research Diagnostic Criteria. Minor physical anomalies, inconsistent hand use, and dermatoglyphic asymmetries were used to index neurodevelopmental disturbance. Affective instability was associated with elevated rates of family history of mood disorders, particularly among individuals who exhibited inconsistent hand use and greater minor physical anomalies. These associations could not be accounted for by shared variance with age, gender, negative affect, or personal history of mood disorders.

Early- and late-onset depression in the older: no differences found within the melancholic subtype

Several studies have reported clinical and biological differences between early- and late-onset(EO and LO) depression, which suggest different underlying aetiological processes. The aim of the present study is to examine whether there are differences between EO and LO depressed patients with melancholy, controlling for current age, with regard to clinical variables, vascular risk factors and family history of affective disorders or suicide. One hundred and twenty-one melancholic patients were divided into three groups: patients with current age and onset earlier than 60 (N = 60), patients aged 60 or over and with onset at 60 or later(N = 30) and patients aged 60 or over and with onset before the age of 60 (N = 31). Systematic clinical data were collected with the structured interview ’The Schedule for Affective Disorders and Schizophrenia’. Symptom ratings at admission and at discharge were assessed by means of the 21-item Hamilton Depression Rating Scale, the Hamilton Anxiety Scale and the Widlöcher Depression Retardation Scale. Family history of affective disorders or suicide was obtained using the Family History Research Diagnostic Criteria. Vascular risk factors were also recorded. The only symptoms that differed across the groups were feelings of anger and irritability, which scored lower in the LO older group. No other significant differences were found in the variables studied. According to this study, LO depression with melancholia should not be considered as a distinct entity. Further studies on EO and LO-depression should consider this diagnostic subtype, among others, as a key variable.

A Comparison of Depressed Patients with and Without Borderline Personality Disorder: Implications for Interpreting Studies of the Validity of the Bipolar Spectrum

The nosological status of borderline personality disorder as it relates to the bipolar disorder spectrum has been controversial. Studies have supported, in part, the validity of the bipolar spectrum by demonstrating that these patients, compared to patients with nonbipolar depression, are characterized by earlier age of onset of depression, recurrent depressive episodes, comorbid anxiety and substance use disorders and increased suicidality. However, all of these factors have likewise been found to distinguish depressed patients with and without borderline personality disorder. A family history of bipolar disorder is one of the few disorder specific validators. In the present study from the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project, we compared the demographic and clinical characteristics of depressed patients with and without borderline personality disorder. We hypothesized that many of the factors used to validate the bipolar spectrum will also distinguish depressed patients with and without borderline personality disorder except, however, a family history of bipolar disorder. Two thousand nine hundred psychiatric outpatients at Rhode Island Hospital were evaluated with the Structured Clinical Interview for DSM-IV (SCID) and Structured Interview for DSM-IV Personality Disorders (SIDP-IV). Family history information regarding first-degree relatives was obtained from the patient using the Family History Research Diagnostic Criteria. One hundred and one patients with borderline personality disorder plus major depressive disorder were compared to 947 patients with major depressive disorder alone on the prevalence of bipolar disorder validators. Compared to depressed patients without borderline personality disorder, depressed patients with borderline personality disorder had a younger age of onset, more depressive episodes, a greater likelihood of experiencing atypical symptoms and had a higher prevalence of comorbid anxiety disorders, substance use disorders, and number of previous suicide attempts. The depressed patients with borderline personality disorder did not significantly differ from the patients without borderline personality disorder on morbid risk for bipolar disorder in first degree relatives. In addition, patients with a diagnosis of bipolar disorder had a significantly higher morbid risk of bipolar disorder in first degree relatives than the borderline personality disorder group. The findings indicate that many factors used to validate the bipolar spectrum are not disorder specific. These results raise questions about studies of the validity of the broad bipolar spectrum that do not assess borderline personality disorder. Our results do not support inclusion of borderline personality disorder as part of the bipolar spectrum.

Labour Recruitment on the Audley End Estate in the Late 19th Century

AbstractThis article explores patterns of labour recruitment associated with the Audley End estate in Essex during the early 1900s drawing on evidence from estate records, the census and oral and family history research. Whereas a distinction has often been drawn between the high turnover of nationally recruited indoor servants, and the long service of locally-recruited estate workers, this paper shows that even amongst outdoor staff there were differences between specialists and general labourers. The former generally came from further afield, served for short periods and were recruited through more formal channels, whereas the latter were more local to the estate, hired through family and friendship connections and often served for many years. It is argued that the continued reliance on labour recruited locally helped maintain the close bonds between the estate and neighbouring villages at a time when the population as a whole was becoming increasingly mobile and urbanised. This in turn helps to explain...

Genealogylinks.net: Your Online Resource for Family History Research2009245Genealogylinks.net: Your Online Resource for Family History Research. Last Visited February 2009. Gratis URL: www.genealogylinks.net

Genealogylinks.net: Your Online Resource for Family History Research2009245<i>Genealogylinks.net: Your Online Resource for Family History Research</i>. Last Visited February 2009. Gratis URL: www.genealogylinks.net

Race, memory and family history

Attempts to grapple with the complicated tangle of race and memory are more prominent than ever in the public discourse of the United States. In 2006, public intellectual Henry Louis Gates sought to popularize the search for roots and meaning with his project African American Lives, and in 2007 the black and white descendants of the landmark Plessy v. Ferguson case met in New Orleans to discuss the past and present significance of their ancestors’ lives. As the crafting of identities around increasingly fluid notions of ‘race’ proceeds apace, the activities of family historians provide a useful entrée into struggles over race, identity, and collective memory in the United States. The research reported here illustrates how the shared history of the multi-racial descendants of eighteenth and nineteenth century St Domingue/Haiti in Louisiana is encountered in racially distinct ways. Participant observation is used to examine how race is dealt with in the activities of two groups: 1) a mainly European American genealogical society, called the St Domingue Special Interest Group; and 2) the LA Creole cultural and genealogy group, made up primarily of Louisiana creoles of color. Preliminary findings indicate that while the process of engaging in family history research provides an opening for some participants to better understand others across racial and ethnic divides, this kind of cross-racial dialogue was limited by the organization of family history activities into racially distinct social networks. As the popularity of genealogy increases, the findings here point to the need to recognize the public significance of these private histories.

Relationships Between Adult Women’s Mental Health Problems and their Childhood Experiences of Parental Violence and Psychological Aggression

We used the Parent-Child Conflict Tactics Scales (M. A. Straus, S. L. Hamby, D. Finkelhor, D. W. Moore, & D. Runyan, 1998) to assess retrospectively women’s childhood experiences of both mother and father physical abuse and psychological aggression, and assessed mother and father alcohol problems based on criteria derived from the Family History Research Diagnostic Criteria (N. C. Andreasen, J. Endicott, R. L. Spitzer, & G. Winokur, 1977). Data were collected from 447 women (age 18 or higher) from seven domestic violence programs and five substance use disorder treatment programs in a midwestern state. Using OLS regression with backward elimination (p < .10 as criterion for removal from the equation) we found that higher levels of mother physical abuse, father psychological aggression, and presence of mother alcohol problems predicted higher scores on the Beck Anxiety Inventory and Trauma Symptom Checklist. Higher levels of mother physical abuse and father psychological aggression predicted higher scores on the Beck Depression Inventory. Implications for research and practice are discussed.

Diagnosing Major Depressive Disorder VII

Eliciting information about a patient's family history is a component of a standard diagnostic evaluation. Since depression runs in families, a question arises as to whether family history information should be considered when diagnosing depression. The text of DSM-IV indicates that a family history of a mood disorder should sometimes be considered when trying to distinguish between major depressive disorder and other conditions such as catatonic schizophrenia. The questions posed herein are how well family history of depression performs as a diagnostic criterion, and how its performance compares with the DSM-IV symptom criteria. One thousand eight hundred psychiatric outpatients were evaluated with a semistructured diagnostic interview as part of a research assessment infrastructure that has been embedded in the Rhode Island Hospital Department of Psychiatry outpatient practice. Family history diagnoses were based on information provided by the patient. The interview followed the guide provided in the Family History Research Diagnostic Criteria. We constructed a continuum of family history morbidity based on the number of first-degree family members with a history of depression and whether the family member was treated for their depression. Thus, we determined the presence or absence of the family history diagnostic criterion in different ways. Family history information was collected on 9763 first-degree relatives of 1776 patients. The sensitivity of the family history criterion was lower than each of the symptoms. Based on the broadest definition of the family history variable, the specificity was also lower than all other symptoms. Based on the narrowest definition (two or more family members who were treated for depression), the specificity was higher than all of the symptom criteria though sensitivity dropped to 15%. Overall, as a diagnostic criterion, a family history of depression did not perform as well as the DSM-IV symptom criteria. Consistent with the familial nature of depression, the family history variable performed better as a diagnostic criterion when considering diagnosis from a lifetime, rather than a current, perspective. This has implications for the future consideration of genetic markers as diagnostic criteria.

The arithmetic of cuckoldry in family trees

Family history research has become a very popular hobby during the last few years due to the ready access to records of births and marriages. Many people have rigorously traced their ancestors back to 1700 and earlier, corresponding to some 12 generations. The principal motivation of most amateur genealogists is to learn about the lives of their forebears and they trust these ‘legal’ records without question and do not usually acknowledge that cuckoldry may have occurred and that their true ancestors may not have been the ones recorded.

Familial aggregation of schizophrenia‐spectrum disorders and obsessive‐compulsive associated disorders in schizophrenia probands with and without OCD

A substantial proportion of schizophrenia patients also has obsessive-compulsive disorder (OCD). To further validate the clinical validity of a schizo-obsessive diagnostic entity, we assessed morbid risks for schizophrenia-spectrum disorders and OC-associated disorders in first-degree relatives of schizophrenia probands with and without OCD. Two groups of schizophrenia probands [with OCD (n = 57) and without OCD (n = 60)] and community-based controls (n = 50) were recruited. One hundred eighty two first-degree relatives of probands with OCD-schizophrenia, 210 relatives of non-OCD schizophrenia probands, and 165 relatives of community subjects were interviewed directly [59.3% (108/182), 51.9% (109/210), and 54.5% (90/165), respectively], using the Structured Clinical Interview for Axis-I DSM-IV Disorders and Axis II DSM-III-R Personality Disorders and the remaining relatives were interviewed indirectly, using the Family History Research Diagnostic Criteria. Relatives of OCD-schizophrenia probands had significantly higher morbid risks for OCD-schizophrenia (2.2% vs. 0%; P = 0.033) and OCPD (7.14% vs. 1.90%; P = 0.014), and a trend towards higher morbid risk for OCD (4.41% vs. 1.43%; P = 0.08) compared to relatives of non-OCD schizophrenia probands. When morbid risks for OCD, OCPD, and OCD-schizophrenia were pooled together, the significant between-group difference became robust (13.74% vs. 3.33%; P = 0.0002). In contrast, relatives of the two schizophrenia groups did not differ significantly in morbid risks for schizophrenia-spectrum disorders, mood disorders, or substance abuse disorders. A differential aggregation of OC-associated disorders in relatives of OCD-schizophrenia versus non-OCD schizophrenia probands, provides further support for the validity of a putative OCD-schizophrenia ("schizo-obsessive") diagnostic entity.

Primary fibromyalgia and depression: The role of relatives in fibromyalgia

Abstract Objective. To compare a group of patients suffering from fibromyalgia (FM) with patients having a lumbar disc hernia (LDH) and with a control group of healthy subjects. We investigate of the presence psychiatric disorders and their relationship with FM. Psychiatric disorders were also investigated in first and second degree relatives of patients with FM. Methods. Thirty-four patients suffering from FM according to the American College of Rheumatology criteria, 30 patients with lumbar disc hernia (LDH) without fibromyalgia and 43 healthy subjects were introduced into the study. All the groups were sex and age matched. All subjects were investigated by a structured clinical interview (Diagnostic and Statistical Manual of Mental Disorders, 4th edn), by Beck depression scale (BDS), and by Hamilton depression scale (HDS). Family history research diagnostic criteria were used. Results. The mean scores of BDS and of HDS were significantly higher in FM and LDH patients than in controls. In addition, ther...

Multiple dimensions of familial psychopathology affect risk of mood disorder in children of bipolar parents.

The aim of our study was to determine whether familial loading of unipolar disorder, bipolar disorder, and substance use disorder are associated with DSM-IV mood disorders in adolescents at risk for bipolar disorder. One hundred and forty adolescents aged 12-21 years of 86 bipolar parents participated in the study. Lifetime DSM-IV diagnoses of the bipolar offspring were assessed with the Schedule for Affective Disorders and Schizophrenia for School Age Children Kiddie-SADS-Present and Lifetime Version (SADS-PL). Parents were interviewed using the Family History Research Diagnostic Criteria (FH-RDC) which were used to calculate a continuous familial loading score (FL) for unipolar disorder, bipolar disorder, and for substance use disorder in first- and second-degree relatives of the adolescents. FL for unipolar disorder and substance use disorder were strong and independent predictors for lifetime mood disorders in the adolescents. The gender adjusted hazard ratios for mood disorders in the children were 1.5 (95% confidence interval (CI) = 1.2-2.0) for FL of unipolar disorder and 1.8 (95% CI = 1.3-2.4) for FL of substance use disorder. Expression of mood disorders in children of bipolar parents varies with the degree of additional FL of unipolar disorder and substance use disorder in the extended family.