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Epidemiology and impact of headache disorders
Published in Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby, Headache in Clinical Practice, 2018
Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby
The recent population-based migraine family studies avoid many of the limitations of earlier studies. Russell and Olesen used IHS criteria and directly interviewed first-degree relatives by telephone to determine migraine status.95 First-degree relatives of probands who had migraine with aura had a fourfold increased risk of migraine with aura. The relatives of probands who had migraine without aura had a 1.9-fold increased risk of migraine without aura. Transmission of migraine type within families appears to be specific. In another population-based family study, the migraine probands with the greatest level of disability had the highest relative risk of family aggregation.96 In this study, genetic factors accounted for about half of the risk of migraine.96
Genetics and genomics of idiopathic pulmonary fibrosis
Published in Muhunthan Thillai, David R Moller, Keith C Meyer, Clinical Handbook of Interstitial Lung Disease, 2017
Susan K Mathai, David A Schwartz
Early studies investigating potential genetic influences in the development of IPF utilized subjects with familial pulmonary fibrosis (or, familial interstitial pneumonia, FIP), defined as pulmonary fibrosis in individuals with two or more relatives also affected by an IIP. Early studies utilized twins and family aggregation of cases (19) because investigators had observed that a family history of pulmonary fibrosis was a risk factor for an IPF diagnosis (20–22). These early observational studies suggested that there was a familial risk for the disease, and the first disease-associated gene variants were identified in surfactant protein genes among FIP patients (23–27). Specifically, studies of families with pulmonary fibrosis identified a heterozygous coding mutation in surfactant protein C (SFTPC) (23), numerous coding and noncoding variants in SFPTC (24) and two rare coding mutations in surfactant protein A that segregated with disease and that were not found in controls (26,27).
Genetics of Anxiety
Published in Siegfried Kasper, Johan A. den Boer, J. M. Ad Sitsen, Handbook of Depression and Anxiety, 2003
In summary, we can conclude that the family aggregation of anxiety disorders is mainly attributable to genetic factors but not to a common environment. Even without the specification of genes and environments in family and twin studies, these results contribute to the classic discussions on the origin of anxiety disorders; e.g., it was proposed that anxious behavior and particularly social anxiety were learned by modeling (model-learning hypothesis), and that children, in particular, learn this behavior from their parents. According to this hypothesis, children would be exposed to a common, shared risk factor emerging as shared variance from twin studies. Given the lack of evidence for shared nongenetic components in twin studies, the model-learning hypothesis cannot explain a substantial proportion of the variance.
Past-tense inflection of non-verbs: a potential clinical marker of developmental language disorder in Swedish children
Published in Logopedics Phoniatrics Vocology, 2022
Nelli Kalnak, Karolina Löwgren, Kristina Hansson
Family history data were collected from the parents of all 36 children with DLD and the parents of 29 of the controls. For the remaining 31 control children, no information about family history was available. The parents of the 36 children with DLD participated in a larger family history interview [39], in which the prevalence of several language-related diagnoses and problems was investigated in relatives of children with DLD (n = 61) and in a control group of 100 typically developing children (not the same controls as in the present study). The parents were asked if they had a history, or current difficulties within several categories, of language-related diagnoses and problems, such as e.g. autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), cleft palate, specific learning disorders, and social communication difficulties. In the present study, we classified family aggregation into two categories based on whether or not the child with DLD had a parent or parents with language and/or literacy problems. Information about family history in the 29 controls was collected in a questionnaire, in which the parents were asked if their child had any parents who had speech, language, and/or literacy difficulties.
Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study
Published in Scandinavian Journal of Gastroenterology, 2021
Ming Tan, Klaus Brusgaard, Anne-Marie Gerdes, Michael Bau Mortensen, Sönke Detlefsen, Ove B. Schaffalitzky de Muckadell, Maiken Thyregod Joergensen
The calculated heritability using ICC represents a narrow sense additive genetic model. The estimated heritability is a narrow sense because it captures only the proportion of genetic variations that are due to additive genetic effects (i.e. dominant or recessive inheritance was not taken into account). Multiple environmental exposures within families such as heavy smoking, alcohol, obesity, etc. have been reported as risk factors for early onset of precursor lesions of pancreatic cancer [23,24]. Environmental factors may be especially relevant to FPC as these patients develop more precursor lesions with differential gene expression patterns compared to pancreatic cancer patients without familial predisposition [25–27]. Accumulative environmental exposures such as drinking and smoking confer a strong risk of pancreatic inflammation (i.e. pancreatitis) [28], while inflammatory signals have been shown to implicate both development of precursor lesions and progression to PDAC [29]. This means that sharing of the risky environmental factors within families may also contribute to family aggregation of FPC. Hence, the ICC-based approach provides an upper bound estimate of heritability. Findings of the present study emphasize the genetic component in pancreatic cancer (PC) as reflected by reports of previous population-based studies – indicating an increased risk of PDAC among FDRs to patients with PC in general [5,30,31].
ADHD Symptoms, Academic and Social Difficulties in Parents of Children with ADHD
Published in Psychiatry, 2020
Inmaculada Insa Pineda, Anna Huguet Miguel, Marta Chamorro Fernández, Marta Espadas Tejerina, Cristina Luz Gómez González, José A. Alda
The main objective of this study was to evaluate the presence of retrospective and current ADHD symptoms among parents of children with ADHD compared to a group of parents of children without ADHD. Given that there is a high family aggregation of the disorder we expected to find a greater identification of symptoms among the parents of the patients. A secondary objective was to deepen the psychosocial factors comparing the education level, the perception of the unemployed aid and the situations of separations or divorce between the two groups.