scholarly journals Putative protective neural mechanisms in pre-readers with a family history of dyslexia who subsequently develop typical reading skills

2019 ◽  
Author(s):  
Xi Yu ◽  
Jennifer Zuk ◽  
Meaghan V. Perdue ◽  
Ola Ozernov-Palchik ◽  
Talia Raney ◽  
...  
Keyword(s):  
Family History ◽  
Phonological Processing ◽  
Word Reading ◽  
Developmental Trajectories ◽  
Familial Risk ◽  
Structural Connectivity ◽  
Neural Mechanisms ◽  
Enabling Factors ◽  
Reading Abilities ◽  
History Of

AbstractDevelopmental dyslexia is a learning disability characterized by difficulties in word reading. While the prevalence in the general public is around 10-12%, an increased prevalence of 40-60% has been reported for children with a familial risk. Neural atypicalities in the reading network have been observed in children with (FHD+) compared to without (FHD-) a family history of dyslexia, even before reading onset. Despite the hereditary risk, about half of FHD+ children develop typical reading abilities (FHD+Typical) but the underlying neural characteristics and the developmental trajectories of these favorable reading outcomes remain unknown. Utilizing a retrospective, longitudinal approach, this is the first study to examine whether potential protective neural mechanisms are present before reading onset in FHD+Typical. Functional and structural brain characteristics were examined in 69 pre-readers who subsequently developed typical reading abilities (35 FHD+Typical/34 FHD-Typical) using MRI/fMRI. Searchlight-based multivariate pattern analyses identified distinct activation patterns during phonological processing between FHD+Typical and FHD-Typical in right inferior frontal (RIFG) and left temporo-parietal (LTPC) regions. Hypoactivation in LTPC was further demonstrated in FHD+Typical compared to FHD-Typical, suggesting that this previously reported neural characteristic of dyslexia is primarily associated with familial risk. Importantly, FHD+Typical pre-readers exhibited higher activation in RIFG than FHD-Typical, which was associated with increased interhemispheric functional and structural connectivity. These results suggest that putative protective neural mechanisms are already established in FHD+Typical pre-readers and may therefore support their successful reading development. Further studies are needed to investigate the functional significance and developmental trajectories of these neural mechanisms as well as their enabling factors, which has the potential to inform the design of early preventative/remediation strategies.

scholarly journals Putative protective neural mechanisms in prereaders with a family history of dyslexia who subsequently develop typical reading skills

2020 ◽  
Vol 41 (10) ◽  
pp. 2827-2845
Author(s):  
Xi Yu ◽  
Jennifer Zuk ◽  
Meaghan V. Perdue ◽  
Ola Ozernov‐Palchik ◽  
Talia Raney ◽  
...  
Keyword(s):  
Family History ◽  
Reading Skills ◽  
Neural Mechanisms ◽  
History Of

scholarly journals Delineating genetic and familial risk for psychopathology in the ABCD study

2020 ◽  
Author(s):  
Clare E Palmer ◽  
Robert John Loughnan ◽  
Carolina Makowski ◽  
Wesley Thompson ◽  
Deanna Barch ◽  
...  
Keyword(s):  
Family History ◽  
Psychiatric Disorders ◽  
Genetic Risk ◽  
Familial Risk ◽  
Risk Scores ◽  
Typically Developing ◽  
Polygenic Risk ◽  
Hyperactivity Disorder ◽  
History Of ◽  
Risk Predictors

Psychiatric disorders place a huge burden on those affected and their families, as well as society. Nearly all psychiatric disorders have a heritable component and lifetime prevalence rates of several disorders are higher among first degree biological relatives of individuals with a diagnosis. Given that many psychiatric disorders have their onset in adolescence, estimating genetic risk during childhood may identify at-risk individuals for early intervention that can reduce this burden. Here we measured genetic risk for psychopathology using both polygenic risk scores (PRS) and family history in a large typically developing sample of 9-10 year old children from the Adolescent Brain and Cognitive Development (ABCD) StudySM and determined associations with a large battery of behavioural phenotypes. By including all genetic risk predictors in the same model, we were able to delineate unique behavioral associations across these measures. Polygenic risk for Attention Deficit Hyperactivity Disorder (ADHD) and depression (DEP) was associated with unique patterns of both externalizing and internalizing behaviors. Family history of conduct problems, depression and anxiety/stress additionally predicted unique behavioral variance across similar measures. These findings provide important insight into the potential predictive utility of PRS and family history in early adolescence and suggest that they may be signaling differential, additive information that could be useful for quantifying risk during development.

Semantic memory and reading abilities: A case report

1995 ◽  
Vol 1 (1) ◽  
pp. 104-110 ◽  
Author(s):  
Lisa Cipolotti ◽  
Elizabeth K. Warrington
Keyword(s):  
Semantic Memory ◽  
Phonological Processing ◽  
Reading Skills ◽  
Word Reading ◽  
Word Meaning ◽  
Frequency Effect ◽  
Word Frequency Effect ◽  
Word Comprehension ◽  
Reading Abilities ◽  
The Common

AbstractWe document the unexpected dissociation of preserved reading skills in a patient with severely impaired semantic memory. The common co-occurrence between impairment of word meaning and surface dyslexia has not been observed. The patient (hereafter called DRN) had marked naming and word comprehension difficulties. A strong word frequency effect was observed on tests of word comprehension but was absent in a test of word reading. DRN's ability to read both regular and exception words that he failed to comprehend was remarkably well preserved. We will argue that these findings provide further support for the independence of semantic and phonological processing. (JINS, 1995, I, 104–110.)

scholarly journals Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL

Blood ◽  
2011 ◽  
Vol 117 (6) ◽  
pp. 1911-1916 ◽  
Author(s):  
Susan L. Slager ◽  
Kari G. Rabe ◽  
Sara J. Achenbach ◽  
Celine M. Vachon ◽  
Lynn R. Goldin ◽  
...  
Keyword(s):  
Family History ◽  
Genome Wide Association Study ◽  
Statistical Significance ◽  
Familial Risk ◽  
Lymphocytic Leukemia ◽  
Genome Wide Association ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Genome Wide ◽  
History Of

Abstract Prior genome-wide association (GWA) studies have identified 10 susceptibility loci for risk of chronic lymphocytic leukemia (CLL). To identify additional loci, we performed a GWA study in 407 CLL cases (of which 102 had a family history of CLL) and 296 controls. Moreover, given the strong familial risk of CLL, we further subset our GWA analysis to the CLL cases with a family history of CLL to identify loci specific to these familial CLL cases. Our top hits from these analyses were evaluated in an additional sample of 252 familial CLL cases and 965 controls. Using all available data, we identified and confirmed an independent association of 4 single-nucleotide polymorphisms (SNPs) that met genome-wide statistical significance within the IRF8 (interferon regulatory factor 8) gene (combined P values ≤ 3.37 × 10−8), located in the previously identified 16q24.1 locus. Subsetting to familial CLL cases, we identified and confirmed a new locus on chromosome 6p21.3 (combined P value = 6.92 × 10−9). This novel region harbors the HLA-DQA1 and HLA-DRB5 genes. Finally, we evaluated the 10 previously reported SNPs in the overall sample and replicated 8 of them. Our findings support the hypothesis that familial CLL cases have additional genetic variants not seen in sporadic CLL. Additional loci among familial CLL cases may be identified through larger studies.

The Familial Risk of Endometriosis among the Female Relatives of Patients with Endometriosis in Greece

2017 ◽  
Vol 9 (3) ◽  
pp. 184-187 ◽  
Author(s):  
Michail Matalliotakis ◽  
George N. Goulielmos ◽  
Maria I. Zervou ◽  
Charoula Matalliotaki ◽  
Georgios Koumantakis ◽  
...  
Keyword(s):  
Family History ◽  
Genetic Factors ◽  
Demographic Variable ◽  
Positive Family History ◽  
Familial Risk ◽  
Control Group ◽  
Severe Stage ◽  
Medical Reports ◽  
History Of ◽  
Cause Of Pain

Introduction Endometriosis is a gynecologic disease affecting up to 10% of the women and a major cause of pain and infertility. It is a complex genetic disease with an overall heritability estimated at around 4%. We aimed to study the familial risk of endometriosis among the female relatives of patients with endometriosis. Furthermore, we compared the demographic variable characteristics of patients with and without family history of endometriosis. Methods We evaluated the medical reports of 400 women with endometriosis and 400 without, all of whom underwent consultation for infertility or pelvic pain and had surgery between 2002 and 2016. This retrospective study was conducted in the Obstetrics and Gynecology Department of Venizeleio General Hospital of Heraklion, Crete. Data were collected from patients' charts and analyzed by statistical methods including x2 and Mann-Whitney U test. Results The overall risk of first-degree relatives of endometriosis was 10.2% versus only 0.7% of controls p<0.001. Among 25 pairs of sisters we found one or more sisters with endometriosis. Additionally, we reported a family with six members with endometriosis within three generations. In women with positive family history of endometriosis we observed earlier menarche and more severe stage of endometriosis. Moreover, we did not notice any difference in the demographic characteristics between the endometriosis and the control group patients; similar clinical data was observed in both groups. Conclusions These data support the view that genetic factors play a role in the development of this condition.

scholarly journals University Students with a Significant Historyof Reading Difficulties:What Is and Is Not Compensated?

2007 ◽  
Vol 17 (2) ◽  
Author(s):  
Rauno Parrila ◽  
George Georgiou ◽  
Julie Corkett
Keyword(s):  
University Students ◽  
Reading Disability ◽  
Phonological Processing ◽  
Word Reading ◽  
Reading Acquisition ◽  
History Of Reading ◽  
The Status ◽  
History Of ◽  
Recent Diagnosis ◽  
Reading Decoding

This study examined the status of current reading, spelling, and phonological processing skills of 28 university students who reported a history of reading acquisition problems. The results indicated that 21 of these participants were currently able to comprehend text at a level expected for university students, although only 8 at a rate comparable to that of university students without a history of reading acquisition problems. In addition, all but two participants showed current problems in two or more of the additional areas examined, including word reading, decoding, spelling, and phonological processing. The performance of ten participants who had a recent diagnosis of reading disability was mostly indistinguishable from the performance of participants without such diagnosis, except on the phonological processing tasks.

scholarly journals A Structural Connectivity Disruption One Decade before the Typical Age for Dementia: A Study in Healthy Subjects with Family History of Alzheimer’s Disease

2021 ◽  
Author(s):  
F Ramírez-Toraño ◽  
Kausar Abbas ◽  
Ricardo Bruña ◽  
Silvia Marcos de Pedro ◽  
Natividad Gómez-Ruiz ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Family History ◽  
Fractional Anisotropy ◽  
Diffusion Tensor ◽  
Structural Connectivity ◽  
Network Failure ◽  
Structural Connectome ◽  
The Family ◽  
History Of

Abstract The concept of the brain has shifted to a complex system where different subnetworks support the human cognitive functions. Neurodegenerative diseases would affect the interactions among these subnetworks and, the evolution of impairment and the subnetworks involved would be unique for each neurodegenerative disease. In this study, we seek for structural connectivity traits associated with the family history of Alzheimer’s disease, i.e., early signs of subnetworks impairment due to Alzheimer’s disease.3. The sample in this study consisted of 123 first-degree Alzheimer’s disease relatives and 61 non-relatives. For each subject, structural connectomes were obtained using classical diffusion tensor imaging measures and different resolutions of cortical parcellation. For the whole sample, independent structural-connectome-traits were obtained under the framework of connICA. Finally, we tested the association of the structural-connectome-traits with different factors of relevance for Alzheimer’s disease by means of a multiple linear regression. The analysis revealed a structural-connectome-trait obtained from fractional anisotropy associated with the family history of Alzheimer’s disease. The structural-connectome-trait presents a reduced fractional anisotropy pattern in first-degree relatives in the tracts connecting posterior areas and temporal areas. The family history of Alzheimer’s disease structural-connectome-trait presents a posterior–posterior and posterior-temporal pattern, supplying new evidences to the cascading network failure model.

scholarly journals Family History of Psychiatric Disorders and Clinical Factors Associated With a Schizophrenia Diagnosis

2021 ◽  
Vol 58 ◽  
pp. 004695802110607
Author(s):  
Lina Díaz-Castro ◽  
Kurt Hoffman ◽  
Héctor Cabello-Rangel ◽  
Armando Arredondo ◽  
Miguel Ángel Herrera-Estrella
Keyword(s):  
Risk Factors ◽  
Mental Illness ◽  
Family History ◽  
Clinical Characteristics ◽  
Reference Group ◽  
Familial Risk ◽  
Psychotic Symptoms ◽  
City Hospital ◽  
Obstetric Trauma ◽  
History Of

Background Schizophrenia (SCH) and bipolar disorder (BD) have both shared and unique genetic risk factors and clinical characteristics. The aim of the present study was to identify potential risk factors significantly associated with SCH, relative to a BD reference group. Methods Data were obtained from medical records of patients that entered a major Mexico City hospital during 2009–2010 presenting psychotic symptoms (n = 1132; 830 cases of SCH, 302 cases of BD; 714 men and 418 women). SCH and BD diagnoses were compared with respect to a number of family and clinical characteristics. Logistic and linear regression analyses were used to respectively identify factors selectively associated with the SCH diagnosis relative to the BD diagnosis and explore the relationship between PANSS scores and parental age at time of birth to the age of SCH onset. Results Patients with SCH showed greater functional impairment than those with BD. Family history of mental illness, premorbid schizoid-like personality, and obstetric trauma were significantly associated with the SCH diagnosis. The association of obstetric trauma with SCH was greatest in male patients with a family history of mental illness. In women, increased paternal and decreased maternal age at time of the patient’s birth were associated with an earlier age of SCH onset. Conclusion Male gender, showing premorbid schizoid-like personality, familial SCH, and obstetric trauma are risk factors that distinguish SCH from BD. Additionally, our results suggest that risk for SCH relative to BD may be importantly influenced by interactions between familial risk, gender, and obstetric trauma.

scholarly journals Endoscopic screening of relatives of patients with colorectal cancer

Gut ◽  
1998 ◽  
Vol 42 (1) ◽  
pp. 71-75 ◽  
Author(s):  
L M Hunt ◽  
P S Rooney ◽  
J D Hardcastle ◽  
N C Armitage
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Lower Risk ◽  
Flexible Sigmoidoscopy ◽  
Familial Risk ◽  
Endoscopic Screening ◽  
First Degree Relatives ◽  
The Family ◽  
Satisfactory Method ◽  
History Of

Background—The risk of colorectal cancer is higher among relatives of those affected. The neoplastic yield reported from screening such individuals varies enormously between studies and depends on the age and strength of the family history of those screened.Aims—To ascertain the neoplastic yield of endoscopic screening of first degree relatives of patients with colorectal cancer by age and familial risk.Subjects—A total of 330 individuals with a family history of colorectal cancer.Method—Endoscopic screening conducted according to a protocol.Results—Adenomas were found in 12%, and adenomas larger than 1 cm in 8%, of “high risk” individuals screened primarily by colonoscopy. Of those with neoplasia, 26% had lesions at or proximal to the splenic flexure. Neoplasia was found in 9.5% of individuals at lower familial risk, screened primarily by 60 cm flexible sigmoidoscopy, 4% of whom had neoplasia larger than 1 cm in size or cancer. Neoplastic yield was greatest in the fourth and fifth decades in those at highest risk, but increased with age in those at lower risk.Conclusions—For individuals with two or more first degree relatives, or relatives who have developed colorectal cancer at a young age, colonoscopy appears to be the only satisfactory method of screening, but 60 cm flexible sigmoidoscopy may be useful in those at lower levels of risk.

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