scholarly journals Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Petrus J. de Vries ◽  
Loren Leclezio ◽  
Sugnet Gardner-Lubbe ◽  
Darcy Krueger ◽  
Mustafa Sahin ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Tuberous Sclerosis ◽  
Exploratory Factor Analysis ◽  
Internal Consistency ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Neuropsychiatric Disorders ◽  
Data Driven ◽  
Small Scale ◽  
Wide Range

Abstract Background Tuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND). Individuals have apparently unique TAND profiles, challenging diagnosis, psycho-education, and intervention planning. We proposed that identification of natural TAND clusters could lead to personalized identification and treatment of TAND. Two small-scale studies showed cluster and factor analysis could identify clinically meaningful natural TAND clusters. Here we set out to identify definitive natural TAND clusters in a large, international dataset. Method Cross-sectional, anonymized TAND Checklist data of 453 individuals with TSC were collected from six international sites. Data-driven methods were used to identify natural TAND clusters. Mean squared contingency coefficients were calculated to produce a correlation matrix, and various cluster analyses and exploratory factor analysis were examined. Statistical robustness of clusters was evaluated with 1000-fold bootstrapping, and internal consistency calculated with Cronbach’s alpha. Results Ward’s method rendered seven natural TAND clusters with good robustness on bootstrapping. Cluster analysis showed significant convergence with an exploratory factor analysis solution, and, with the exception of one cluster, internal consistency of the emerging clusters was good to excellent. Clusters showed good clinical face validity. Conclusions Our findings identified a data-driven set of natural TAND clusters from within highly variable TAND Checklist data. The seven natural TAND clusters could be used to train families and professionals and to develop tailored approaches to identification and treatment of TAND. Natural TAND clusters may also have differential aetiological underpinnings and responses to molecular and other treatments.

scholarly journals Multivariate Data Analysis Identifies Natural Clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)

2021 ◽  
Author(s):  
Petrus J de Vries ◽  
Loren Leclezio ◽  
Sugnet Gardner-Lubbe ◽  
Darcy Krueger ◽  
Mustafa Sahin ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Tuberous Sclerosis ◽  
Exploratory Factor Analysis ◽  
Internal Consistency ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Neuropsychiatric Disorders ◽  
Data Driven ◽  
Small Scale ◽  
Wide Range

Abstract BackgroundTuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND). Individuals have apparently unique TAND profiles, challenging diagnosis, psycho-education, and intervention planning. We proposed that identification of natural TAND clusters could lead to personalized identification and treatment of TAND. Two small-scale studies showed cluster and factor analysis could identify clinically meaningful natural TAND clusters. Here we set out to identify definitive natural TAND clusters in a large, international dataset.MethodCross-sectional, anonymized TAND Checklist data of 453 individuals with TSC were collected from six international sites. Data-driven methods were used to identify natural TAND clusters. Mean squared contingency coefficients were calculated to produce a correlation matrix, and various cluster analyses and exploratory factor analysis were examined. Statistical robustness of clusters was evaluated with 1000-fold bootstrapping, and internal consistency calculated with Cronbach’s alpha.ResultsWard’s method rendered seven natural TAND clusters with good robustness on bootstrapping. Cluster analysis showed significant convergence with an exploratory factor analysis solution, and, with the exception of one cluster, internal consistency of the emerging clusters was good to excellent. Clusters showed good clinical face validity.ConclusionsOur findings identified a data-driven set of natural TAND clusters from within highly variable TAND Checklist data. The seven natural TAND clusters could be used to train families and professionals and to develop tailored approaches to identification and treatment of TAND. Natural TAND clusters may also have differential aetiological underpinnings and responses to molecular and other treatments.

scholarly journals Behavioral Symptoms May Correlate With the Load and Spatial Location of Tubers and With Radial Migration Lines in Tuberous Sclerosis Complex

2021 ◽  
Vol 12 ◽  
Author(s):  
Rony Cohen ◽  
Jacob Genizi ◽  
Liora Korenrich
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Brain Mri ◽  
Spatial Location ◽  
Neuropsychiatric Disorders ◽  
Temporal Area ◽  
Radial Migration ◽  
Parietal Area

Objective: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous genetic disorder. The clinical manifestations are extensive and include neurological, dermatological, cardiac, ophthalmic, nephrological, and neuropsychiatric manifestations. The prediction and pathophysiology of neuropsychiatric disorders such as emotional symptoms, conduct problems, hyperactivity, and poor social behavior are poorly understood. The aim of the study was to diagnose neuropsychiatric symptoms in individuals with TSC, and to examine their possible correlations with quantity, magnitude, and spatial location of tubers and radial migration (RM) lines.Methods: The cohort comprised 16 individuals with TSC, aged 5–29 years, with normal or low normal intelligence. The participants or their parents were requested to fill Strengths and Difficulties Questionnaire (SDQ) and the TAND (TSC-associated neuropsychiatric disorders) Checklist for assessment of their neuropsychiatric symptoms. Correlations were examined between these symptoms and the magnitude, quantities, and locations of tubers and white matter RM lines, as identified in T2/FLAIR brain MRI scans.Results: The SDQ score for peer relationship problems showed correlation with the tuber load (r = 0.52, p < 0.05). Tuber load and learning difficulties correlated significantly in the temporal and parietal area. Mood swings correlated with tubers in the parietal area (r = 0.529, p < 0.05). RM lines in the temporal area correlated with abnormal total SDQ (r = 0.51, p < 0.05). Anxiety and extreme shyness were correlated with RM lines in the parietal area, r = 0.513, p < 0.05 and r = 0.593, p < 0.05, respectively. Hyperactive/inattention correlated negatively with RM lines in the parietal area (r = −707, p < 0.01).Conclusions: These observations may lead to future studies for precise localization of neuropsychiatric symptoms, thereby facilitating directed therapy.

Understanding Perception of Weight Stigma: Development and Validation of Perceived Weight Stigmatization Scale

2020 ◽  
Vol 34 (4) ◽  
pp. 869-897
Author(s):  
Atiqa Rafeh ◽  
Rubina Hanif
Keyword(s):  
Factor Analysis ◽  
Confirmatory Factor Analysis ◽  
University Students ◽  
Exploratory Factor Analysis ◽  
Internal Consistency ◽  
Weight Stigma ◽  
Principal Component Factor Analysis ◽  
Confirmatory Factor ◽  
Perceived Weight ◽  
Weight Stigmatization

The present study was intended to develop a scale to measure perceived weight stigmatization among people with obesity. The study was conducted in five steps. In first step, three focus group discussions were conducted with female obese university students to get the first-hand information related to weight stigmatization. Step two involved four interviews which were conducted with male obese university students to collect detailed information about weight stigmatization experiences of men. Step three included content analysis of qualitative data for item generation. In step four, judge’s opinion was taken, and a committee approach was carried out to select the items for the initial form of the scale. Items for final form of the scale were selected through exploratory factor analysis and confirmatory factor analysis in step five. For exploratory factor analysis, 150 university students (men = 61, women = 89) were included in the sample, whereas, for confirmatory factor analysis, another group of students (men = 78, women = 72) participated in the study. Principal Component Factor Analysis revealed three meaningful structures including Self-Perception, Perceived Social Rejection, and Perceived Impact containing 43 items. Confirmatory factor analysis confirmed this factor structure and all 43 items possessed factor loadings greater than .40. Moreover, results indicated that perceived weight stigmatization had high internal consistency (Cronbach’s alpha = .96) with three subscales having internal consistency .95, .83, and .92 respectively. Therefore, Perceived Weight Stigmatization Scale turned out to be a reliable and valid instrument for measuring perception of weight stigma in adults with obesity.

scholarly journals The development of a contextually appropriate measure of psychological distress in Sierra Leone

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Rebecca Horn ◽  
Kanykey Jailobaeva ◽  
Stella Arakelyan ◽  
Alastair Ager
Keyword(s):  
Mental Health ◽  
Factor Analysis ◽  
Psychological Distress ◽  
Sierra Leone ◽  
Exploratory Factor Analysis ◽  
Internal Consistency ◽  
Phase 1 ◽  
Cronbach’S Alpha ◽  
Cronbach's Alpha ◽  
Distress Scale

Abstract Background Studies of psychological distress in Sierra Leone have typically used measures which were developed for use in other contexts, and which often have not been adapted or validated for use in Sierra Leone. This has resulted in a lack of reliable information about the patterns of psychological distress within the population, which is a barrier to the development of effective and appropriate mental health services. The aim of the study was to develop a locally-appropriate measure of psychological distress for Sierra Leone. Methods The new measure consists of two instruments: the Sierra Leone Psychological Distress Scale (SLPDS) and a gendered measure of ability to carry out daily tasks—a Function scale—as an indication of the severity of distress. A three-phase mixed methods exploratory sequential study was conducted. Phase 1 was item generation and testing, leading to the development of a set of potential items for both instruments. Phase 2 was a small pilot study (N = 202) leading to the selection of the final set of items for both measures. Phase 3 was a validation phase where the SLPDS and the Function scale were administered with a larger sample of 904 respondents. Item analysis was used to assess the internal consistency of the scales, and Exploratory Factor Analysis to explore the properties of the SLPDS. Results Exploratory factor analysis using the principal axis factoring with an oblique rotation identified a three-factor structure for the 18-item SLPDS. Internal consistency for the SLPDS (Cronbach’s alpha = 0.89) and three subscales was good (Cronbach’s alpha > 0.73). The internal reliability of the male and female versions of the Function scale was also found to be acceptable (Cronbach’s alpha = 0.90 for the female scale and 0.79 for the male scale). Conclusions Together the SLPD and Function scales provide a locally-validated tool which will enable government bodies and local and international non-governmental organisations in Sierra Leone to assess mental health and psychosocial needs. This will support both effective service provision and the evaluation of initiatives designed to improve mental health and psychosocial wellbeing.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

A-196 The Texas Postconcussion Symptom Inventory (TPSI): An Exploratory Factor Analysis and Reliability Analysis

2021 ◽  
Vol 36 (6) ◽  
pp. 1251-1251
Author(s):  
Anthony J Longoria ◽  
Ben K Mokhtari ◽  
Tawny Meredith-Duliba ◽  
Mary A Hershberger ◽  
Patricia Champagne ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Exploratory Factor Analysis ◽  
Internal Consistency ◽  
Clinical Sample ◽  
Somatic Symptoms ◽  
Self Report ◽  
Future Research ◽  
Symptom Inventory ◽  
Multidimensional Measure ◽  
Three Factor

Abstract Objective Self-report scales are commonly used to evaluate non-specific symptoms following concussion. While several scales have been developed, few were created using a systematic process and most contain several ambiguous items that may be misinterpreted. To address this, a new theoretically-based, multidimensional measure was designed to assess Cognitive, Neuropsychiatric, and Somatic symptoms associated with concussion. This study used sophisticated psychometric techniques to develop the Texas Postconcussion Symptom Inventory (TPSI) and establish initial reliability and validity. Method Because concussion symptoms are non-specific, a pool of 76 potential items was developed and administered to a diverse clinical sample (N = 350) that included patients with concussion, epilepsy, and dementia. Polychoric correlations were utilized to remove items based on poor fit/multicollinearity and an exploratory factor analysis (EFA) with an Oblimin rotation was used to determine factor structure. Results A three-factor model best fit the data, and represented Cognitive, Neuropsychiatric, and Somatic domains as designed. Ten items were discarded, resulting in a total of 66 items. The model explained 48.5% of the total variance and contained adequate sampling (Kaiser-Meyer-Olkin measure =0.92) and sufficient item correlations (Bartlett’s Test of Sphericity, p < 0.05) for EFA. All three factor structures displayed high internal consistency (Cronbach’s α > 0.88). Conclusions The TPSI is a brief, multidimensional measure with evidence of strong internal consistency and reliability as well as distinct Cognitive, Neuropsychiatric, and Somatic symptoms associated with concussion. Future research will investigate its convergent and divergent validity in concussion as compared to existing popular symptom measures.

scholarly journals The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

2019 ◽  
Vol 30 (4) ◽  
pp. 2199-2214
Author(s):  
Benoit Scherrer ◽  
Anna K Prohl ◽  
Maxime Taquet ◽  
Kush Kapur ◽  
Jurriaan M Peters ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Face Processing ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Autism Spectrum ◽  
The Body ◽  
Fusiform Gyrus ◽  
Benign Tumors ◽  
Anatomical Connectivity

Abstract Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. We longitudinally imaged TSC patients at 1, 2, and 3 years of age with diffusion compartment imaging. We evaluated whether the anatomical connectivity fingerprint of the fusiform gyrus was associated with the risk of developing autism measured by the Autism Observation Scale for Infants (AOSI). Our findings suggest that the fusiform gyrus connectivity captures the risk of developing autism as early as 1 year of age and provides evidence that abnormal fusiform gyrus connectivity increases with age. Moreover, the identified connections that best capture the risk of developing autism involved the fusiform gyrus and limbic and paralimbic regions that were consistent with the ASD phenotype, involving an increased number of left-lateralized structures with increasing age.

scholarly journals Patients’ views on the implementation of artificial intelligence in radiology: development and validation of a standardized questionnaire

2019 ◽  
Vol 30 (2) ◽  
pp. 1033-1040 ◽  
Author(s):  
Yfke P. Ongena ◽  
Marieke Haan ◽  
Derya Yakar ◽  
Thomas C. Kwee
Keyword(s):  
Artificial Intelligence ◽  
Factor Analysis ◽  
Exploratory Factor Analysis ◽  
Internal Consistency ◽  
Latent Variables ◽  
Procedural Knowledge ◽  
Patient Questionnaire ◽  
Successful Implementation ◽  
Personal Interaction ◽  
Five Factors

Abstract Objectives The patients’ view on the implementation of artificial intelligence (AI) in radiology is still mainly unexplored territory. The aim of this article is to develop and validate a standardized patient questionnaire on the implementation of AI in radiology. Methods Six domains derived from a previous qualitative study were used to develop a questionnaire, and cognitive interviews were used as pretest method. One hundred fifty-five patients scheduled for CT, MRI, and/or conventional radiography filled out the questionnaire. To find underlying latent variables, we used exploratory factor analysis with principal axis factoring and oblique promax rotation. Internal consistency of the factors was measured with Cronbach’s alpha and composite reliability. Results The exploratory factor analysis revealed five factors on AI in radiology: (1) distrust and accountability (overall, patients were moderately negative on this subject), (2) procedural knowledge (patients generally indicated the need for their active engagement), (3) personal interaction (overall, patients preferred personal interaction), (4) efficiency (overall, patients were ambiguous on this subject), and (5) being informed (overall, scores on these items were not outspoken within this factor). Internal consistency was good for three factors (1, 2, and 3), and acceptable for two (4 and 5). Conclusions This study yielded a viable questionnaire to measure acceptance among patients of the implementation of AI in radiology. Additional data collection with confirmatory factor analysis may provide further refinement of the scale. Key Points • Although AI systems are increasingly developed, not much is known about patients’ views on AI in radiology. • Since it is important that newly developed questionnaires are adequately tested and validated, we did so for a questionnaire measuring patients’ views on AI in radiology, revealing five factors. • Successful implementation of AI in radiology requires assessment of social factors such as subjective norms towards the technology.

Tuberous sclerosis complex renal disease

2015 ◽  
Author(s):  
Bradley P. Dixon ◽  
J. Christopher Kingswood ◽  
John J. Bissler
Keyword(s):  
Renal Failure ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Mammalian Target Of Rapamycin ◽  
Cystic Disease ◽  
Pulmonary Lymphangioleiomyomatosis ◽  
Brain Involvement ◽  
Almost All

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting almost all organs. It has wider phenotypic variation than often appreciated, with less than half showing the combination of characteristic facial angiofibromas, epilepsy, and mental retardation. Renal angiomyolipomata or cysts are found in 90% and renal failure was historically a common mode of adult death from the disease. Pulmonary lymphangioleiomyomatosis is restricted to females. Angiomyolipomata or cystic disease, or both, may cause renal failure. Angiomyolipomata may also haemorrhage, especially from larger lesions. Manifestations of brain involvement substantially complicate management of many patients with TSC. The causative genes TSC1 and TSC2 encode tuberin and hamartin which are involved in control of the mammalian target of rapamycin pathway. Inhibitors of that pathway, such as sirolimus and everolimus, are therefore logical approaches to therapy and have been shown to be effective in reducing angiomyolipomata volume. It remains to be seen whether they can protect renal function.

Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex

2020 ◽  
Vol 58 (1) ◽  
pp. 25-31
Author(s):  
Pierre Pfirmann ◽  
Jerome Aupy ◽  
Eva Jambon ◽  
Laetitia Idier ◽  
Mathilde Prezelin-Reydit ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Multidisciplinary Approach ◽  
Genetic Disorder ◽  
Multidisciplinary Care ◽  
Adult Patients ◽  
Bone Lesions ◽  
Interdisciplinary Management ◽  
Cutaneous Lesions ◽  
High Level

BackgroundTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.ObjectivesOur study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model.MethodsData on each adult patient diagnosed with TSC, including disease manifestations, interventions and outcomes, were collected at baseline and updated annually. A multidisciplinary TSC approach with all the recommended explorations was carried out annually.Results90 patients were enrolled in Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Median age of patients at inclusion was 37 years (range, 27–47) and 20 years old at diagnosis of TSC. Regarding the occurrence of TSC manifestations, 97% of the patients had cutaneous lesions, 89% had neurological manifestations, 83% had renal manifestations and 100% had dental lesions with pits. More than half the patients had sclerotic bone lesions (68%), TSC-associated neuropsychiatric disorders (64%) and lymphangioleiomyomatosis (59%). A TSC multidisciplinary approach was developed including a global follow-up and an evaluation of TSC targeting organs, according to the recommendations. A satisfaction survey revealed global and entire satisfaction of patients with TSC.ConclusionWe obtained an accurate description of a cohort of adult patients with TSC. Our multidisciplinary approach model allowed us to provide optimal management of patients with TSC with a high level of patient satisfaction.

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