scholarly journals Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gabriela Marchisio Giordani ◽  
Fabrício Diniz ◽  
Helena Fussiger ◽  
Carelis Gonzalez-Salazar ◽  
Karina Carvalho Donis ◽  
...  
Keyword(s):  
Rating Scale ◽  
Clinical Epidemiology ◽  
Genetic Diagnosis ◽  
Molecular Data ◽  
Large Cohort ◽  
Childhood Onset ◽  
Cross Sectional ◽  
Historical Cohort ◽  
Hereditary Spastic Paraplegias ◽  
Pathogenic Variants

AbstractThe present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from consecutive families with childhood-onset HSP (onset < 12 years-old) were reviewed from 2011 to 2020. One hundred and six individuals (83 families) with suspicion of childhood-onset HSP were evaluated, being 68 (50 families) with solved genetic diagnosis, 6 (5 families) with candidate variants in HSP-related genes and 32 (28 families) with unsolved genetic diagnosis. The most common childhood-onset subtype was SPG4, 11/50 (22%) families with solved genetic diagnosis; followed by SPG3A, 8/50 (16%). Missense pathogenic variants in SPAST were found in 54.5% of probands, favoring the association of this type of variant to childhood-onset SPG4. Survival curves to major handicap and cross-sectional Spastic Paraplegia Rating Scale progressions confirmed the slow neurological deterioration in SPG4 and SPG3A. Most common complicating features and twenty variants not previously described in HSP-related genes were reported. These results are fundamental to understand the molecular and clinical epidemiology of childhood-onset HSP, which might help on differential diagnosis, patient care and guiding future collaborative trials for these rare diseases.

scholarly journals Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Mei Yao ◽  
Yu Xia ◽  
Yijie Feng ◽  
Ying Ma ◽  
Yi Hong ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Rating Scale ◽  
Muscular Atrophy ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Anxiety And Depression ◽  
Type I ◽  
School Age ◽  
Sectional Study ◽  
Cross Sectional

Abstract Background Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA. Methods We conducted a cross-sectional study on school-age SMA patients in China. Patients aged 8–18 years with a genetic diagnosis of 5qSMA were invited to answer a questionnaire composed of sociodemographic and clinical questions, then to complete the Screen for Child Anxiety-Related Emotional Disorders and Depression Self-Rating Scale for depression and anxiety level evaluation. At the end of the questionnaire, further questions assessed the subjective anxiety and subjective depression of patients’ caregivers and their expectations for their child’s future. Results Complete data were available for 155 patients. The sample included 45.8% boys and 54.2% girls; 65.2% were type II, 27.1% were type III, and the remainder were type I SMA. Rates of anxiety and depression in these school-age SMA patients were 40.0% and 25.2%, respectively. Gender, age, and disease type were not associated with anxiety or depression, but respiratory system dysfunction, digestive system dysfunction, skeletal deformity, rehabilitation exercise, academic delay, specialized support from school, household income level, caregivers’ subjective anxiety, and caregivers’ expectations were significantly related to both anxiety and depression. Conclusions There was a high prevalence of anxiety and depression in school-age SMA patients in China. Professional psychological care maybe included in the standard of care. These results also call for possible targets for intervention such as reducing complications, improving drug accessibility, retaining normal schooling, strengthening school support, and enhancing the ability of the caregivers of SMA patients to assist in the diagnosis and treatment of the disease, so improving the mental health of SMA patients.

scholarly journals Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism

2020 ◽  
Vol 105 (4) ◽  
pp. e1686-e1694
Author(s):  
Jonna M E Männistö ◽  
Maleeha Maria ◽  
Joose Raivo ◽  
Teemu Kuulasmaa ◽  
Timo Otonkoski ◽  
...  
Keyword(s):  
Glucose Metabolism ◽  
Katp Channel ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Congenital Hyperinsulinism ◽  
Inadequate Response ◽  
Phenotypic Data ◽  
Cross Sectional ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants

Abstract Context Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI). Objective To examine the genetics and clinical characteristics of patients with persistent and transient CHI. Design A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism. Patients Genetic and phenotypic data were collected from 153 patients with persistent (n = 95) and transient (n = 58) CHI diagnosed between 1972 and 2015. Of these, 86 patients with persistent and 58 with transient CHI participated in the analysis of the selected 104 genes affecting glucose metabolism, including 10 CHI-associated genes, and 9 patients with persistent CHI were included because of their previously confirmed genetic diagnosis. Main outcome measures Targeted next-generation sequencing results and genotype–phenotype associations. Results Five novel and 21 previously reported pathogenic or likely pathogenic variants in ABCC8, KCNJ11, GLUD1, GCK, HNF4A, and SLC16A1 genes were found in 68% (n = 65) and 0% of the patients with persistent and transient CHI, respectively. KATP channel mutations explained 82% of the mutation positive cases. Conclusions The genetic variants found in this nationwide CHI cohort are in agreement with previous studies, mutations in the KATP channel genes being the major causes of the disease. Pathogenic CHI-associated variants were not identified in patients who were both diazoxide responsive and able to discontinue medication within the first 4 months. Therefore, our results support the notion that genetic testing should be focused on patients with inadequate response or prolonged need for medication.

scholarly journals Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Irene Perea-Romero ◽  
◽  
Gema Gordo ◽  
Ionut F. Iancu ◽  
Marta Del Pozo-Valero ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Molecular Techniques ◽  
Cross Sectional ◽  
Autonomous Communities ◽  
Inherited Retinal Dystrophies ◽  
Pathogenic Variants ◽  
Retinal Dystrophies ◽  
Family Pedigree ◽  
Genetic Landscape

AbstractInherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.

scholarly journals Anxiety and Depression in School-age Patients With Spinal Muscular Atrophy: a Cross-sectional Study

2021 ◽  
Author(s):  
Mei Yao ◽  
Yu Xia ◽  
Yijie Feng ◽  
Ying Ma ◽  
Yi Hong ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Rating Scale ◽  
Muscular Atrophy ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Anxiety And Depression ◽  
Type I ◽  
School Age ◽  
Sectional Study ◽  
Cross Sectional

Abstract Background: Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA.Methods: We conducted a cross-sectional study on school-age SMA patients in China. Patients aged 8–18 years with a genetic diagnosis of 5qSMA were invited to answer a questionnaire composed of sociodemographic and clinical questions, then to complete the Screen for Child Anxiety-Related Emotional Disorders and Depression Self-Rating Scale for depression and anxiety level evaluation. At the end of the questionnaire, further questions assessed the subjective anxiety and subjective depression of patients’ caregivers and their expectations for their child’s future. Results: Complete data were available for 155 patients. The sample included 45.8% boys and 54.2% girls; 65.2% were type II, 27.1% were type III, and the remainder were type I SMA. Rates of anxiety and depression in these school-age SMA patients were 40.0% and 25.2%, respectively. Gender, age, and disease type were not associated with anxiety or depression, but respiratory system dysfunction, digestive system dysfunction, skeletal deformity, rehabilitation exercise, academic delay, specialized support from school, household income level, caregivers’ subjective anxiety, and caregivers’ expectations were significantly related to both anxiety and depression. Conclusions: There was a high prevalence of anxiety and depression in school-age SMA patients in China. Professional psychological care maybe included in the standard of care. These results also call for possible targets for intervention such as reducing complications, improving drug accessibility, retaining normal schooling, strengthening school support, and enhancing the ability of the caregivers of SMA patients to assist in the diagnosis and treatment of the disease, so improving the mental health of SMA patients.

Prevalence of ADHD in Primary School Children in Belagavi City, India

2018 ◽  
Vol 25 (2) ◽  
pp. 154-160 ◽  
Author(s):  
Himani Mahesh Joshi ◽  
Mubashir Angolkar
Keyword(s):  
Primary School ◽  
School Children ◽  
Rating Scale ◽  
Cross Sectional Study ◽  
Primary School Children ◽  
Early Age ◽  
Childhood Onset ◽  
Cross Sectional ◽  
Global Consensus ◽  
Indian Scenario

Background: ADHD is one of the most common childhood-onset psychiatric disorders. Even though there is no global consensus on ADHD prevalence, the estimated prevalence of ADHD worldwide ranges between 5.29% and 7.1%. In the Indian scenario, the prevalence of ADHD falls in range of 2% to 17%. Objective: The objective of the study is to determine the prevalence of ADHD in primary school children of Belagavi, India. Method: A cross-sectional study was done among 156 children aged between 6 to 11 years (Grade 1 to 5). Data were collected using Swanson, Nolan and Pelham-IV rating scale (SNAP-IV) Questionnaire after obtaining informed consent from respective parents and principals of their school. Result: Prevalence rate of ADHD was 5.76% with 3.8% among girls and 1.9% among boys. Conclusion: These findings highlight the significance of detecting ADHD in pupils at an early age to plan interventions for treating such cases.

EARLY RECOGNIZATION OF THE CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER BY VANDERBILT ADHD RATING SCALE FOR TEACHERS AND PARENTS

2019 ◽  
pp. 85-91
Author(s):  
Dinh Duong Le ◽  
Van Thang Vo ◽  
Thi Mai Nguyen ◽  
Thi Han Vo ◽  
Huu Chau Duc Nguyen ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
High Risk ◽  
Attention Deficit ◽  
Primary Schools ◽  
Rating Scale ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Hyperactivity Disorder ◽  
Teachers And Parents ◽  
Key Words Adhd

Objectives: The study aims to explore the prevalence of attention deficit hyperactivity disorder and to examine the associated factors with ADHD among primary students by Vanderbilt ADHD rating scale for teacher and parents. Methods: A cross-sectional study design was conducted in 564 students who selected randomly in 4 primary schools in Hue city. Vanderbilt ADHD rating scale for parents and teachers were applied to evaluate the ADHD of children over 6 months ago. Results: The overall prevalence of children who had high risk with ADHD was 4.1% (95%CI: 2.44 - 5.72), including 4.6% and 4.8% in the rating of teachers and parents, respectively. Male was more likely to have ADHD than female (OR adj: 4.64 (95%CI: 1.53 - 14.05) and lack of closely friend (OR adj: 5.11 (95% CI: 2.13 - 12.24). Conclusion: Vanderbilt ADHD diagnosis rating scale for teachers and parents can be used to early recognization children with a high risk of ADHD. Key words: ADHD, Vanderbilt, ratings scale, teacher, parent, children

scholarly journals Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Do Hyeon Cha ◽  
Heon Yung Gee ◽  
Raul Cachau ◽  
Jong Mun Choi ◽  
Daeui Park ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Kidney Injury ◽  
Genetic Identification ◽  
Diagnostic Screening ◽  
Renal Hypouricemia ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Causal Variants ◽  
Coding Variants ◽  
Independent Cohort

Abstract Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic diagnosis using two founder variants in primary screening. We selected all cases (N = 31) with extreme hypouricemia (<1.3 mg/dl) from a Korean urban cohort of 179,381 subjects without underlying conditions. WES and corresponding downstream analyses were performed for the discovery of rare causal variants for hypouricemia. Two known recessive variants within SLC22A12 (p.Trp258*, pArg90His) were identified in 24 out of 31 subjects (77.4%). In an independent cohort, we identified 50 individuals with hypouricemia and genotyped the p.Trp258* and p.Arg90His variants; 47 of the 50 (94%) hypouricemia cases were explained by only two mutations. Four novel coding variants in SLC22A12, p.Asn136Lys, p.Thr225Lys, p.Arg284Gln, and p.Glu429Lys, were additionally identified. In silico studies predict these as pathogenic variants. This is the first study to show the value of genetic diagnostic screening for hypouricemia in the clinical setting. Screening of just two ethnic-specific variants (p.Trp258* and p.Arg90His) identified 87.7% (71/81) of Korean patients with monogenic hypouricemia. Early genetic identification of constitutive hypouricemia may prevent acute kidney injury by avoidance of dehydration and excessive exercise.

scholarly journals How do delirium motor subtypes differ in phenomenology and contributory aetiology? a cross-sectional, multisite study of liaison psychiatry and palliative care patients

BMJ Open ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. e041214
Author(s):  
Kevin Glynn ◽  
Frank McKenna ◽  
Kevin Lally ◽  
Muireann O’Donnell ◽  
Sandeep Grover ◽  
...  
Keyword(s):  
Palliative Care ◽  
Rating Scale ◽  
Symptom Burden ◽  
Systemic Infection ◽  
International Study ◽  
Cross Sectional Study ◽  
Secondary Outcome ◽  
Liaison Psychiatry ◽  
Cross Sectional ◽  
Hypoactive Delirium

ObjectivesTo investigate whether delirium motor subtypes differ in terms of phenomenology and contributory aetiology.DesignCross-sectional study.SettingInternational study incorporating data from Ireland and India across palliative care, old age liaison psychiatry and general adult liaison psychiatry settings.Participants1757 patients diagnosed with delirium using criteria from the Diagnostic and Statistical Manual of Mental Disorders, Fourth edition (DSM IV).Primary and secondary outcome measuresHyperactive, mixed and hypoactive delirium subtypes were identified using the abbreviated version of the Delirium Motor Subtype Scale. Phenomenology was assessed using the Delirium Rating Scale Revised. Contributory aetiologies were assessed using the Delirium Aetiology Checklist (DEC), with a score >2 indicating that the aetiology was likely or definitely contributory.ResultsHypoactive delirium was associated with dementia, cerebrovascular and systemic infection aetiologies (p<0.001) and had a lower overall burden of delirium symptoms than the other motor subtypes. Hyperactive delirium was associated with younger age, drug withdrawal and the DEC category other systemic aetiologies (p<0.001). Mixed delirium showed the greatest symptom burden and was more often associated with drug intoxication and metabolic disturbance (p<0.001). All three delirium motor subtypes had similar levels of impairment in attention and visuospatial functioning but differed significantly when compared with no subtype (p<0.001).ConclusionsThis study indicates a pattern of aetiology and symptomatology of delirium motor subtypes across a large international sample that had previously been lacking. It serves to improve our understanding of this complex condition and has implications in terms of early detection and management of delirium.

scholarly journals The Association Between Personality and Homebound Status in Older Adults: Results From the NHATS

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 233-233
Author(s):  
Xiaocao Sun ◽  
Minhui Liu ◽  
Christina E Miyawaki ◽  
Yuxiao Li ◽  
Tianxue Hou ◽  
...  
Keyword(s):  
Older Adults ◽  
Personality Traits ◽  
Personality Assessment ◽  
Rating Scale ◽  
Community Dwelling ◽  
Cross Sectional ◽  
Health Related ◽  
Community Dwelling Older Adults ◽  
Ordinal Logistic Regression Model ◽  
Hispanic White

Abstract Personality is associated with predictors of homebound status like frailty, incident falls, and depression. It has been rarely investigated whether personality predicts homebound status among older adults. Using the combining cross-sectional data of the Year 2013 and Year 2014 data from the National Health and Aging Trends Study (NHATS), this study examined the association between personality traits and homebound status in a sample of community-dwelling older adults aged 65 years and older (N=2,788). Homebound status (non-homebound, semi-homebound, and homebound) was determined by the frequency, difficulty, and help of outdoor mobility. Personality traits, including conscientiousness, agreeableness, openness, extraversion, and neuroticism were assessed using the 10-item Midlife Development Inventory on a rating scale from 1 (not at all) to 4 (a lot). Each personality trait was included as a predictor in an ordinal logistic regression model to examine its association with homebound status after adjusting demographic and health-related covariates. The sample was on average 79±7.53 years old, non-Hispanic White (72.0%), female (58.6%), living alone (35.4%) or with spouse/partner only (37.4%). Seventy-four percent, 18%, and 8% of participants were non-homebound, semi-homebound, and homebound, respectively. Homebound participants tended to be less-educated older females. The average scores of conscientiousness, agreeableness, openness, extraversion, and neuroticism were 3.19±0.75, 3.57±0.56, 2.81±0.83, 3.13±0.75, and 2.22±0.86, respectively. Among these five personality traits, high conscientiousness (OR=1.34, p&lt;0.001) and extraversion (OR=1.16, p=.03) were associated with a reduced likelihood of being homebound. These findings provided a basis for potential personality assessment to identify and protect individuals with high homebound risk.

scholarly journals Perceived Loneliness and Severe Sleep Disorders in Adult Women during the Covid-19 Quarantine: A Cross-Sectional Study in Colombia

2021 ◽  
Vol 12 ◽  
pp. 215013272110251
Author(s):  
Álvaro Monterrosa-Castro ◽  
Angélica Monterrosa-Blanco ◽  
Andrea González-Sequeda
Keyword(s):  
Sleep Disorders ◽  
Rating Scale ◽  
Statistical Significance ◽  
Cross Sectional Study ◽  
Bivariate Analysis ◽  
Adult Women ◽  
Sectional Study ◽  
Cross Sectional ◽  
Emotional Loneliness ◽  
Social Loneliness

Background: Quarantine is a measure to control COVID-19 spread, resulting in an increased perception of loneliness. In turn, sleep disorders (SD) may be more frequently reported in uncertain circumstances. Objectives: To identify the association between loneliness and severe SD, in women quarantined due to the COVID-19 pandemic. Methods: A cross-sectional study carried out in women, between 40 and 79 years and living in Colombia. The women were invited through social network to complete 5 digital instruments: de Jong Gierveld Loneliness Scale, Menopause Rating Scale, Fear of COVID-19 Five-item Version, Coronavirus Anxiety Scale, and Francis Religion Scale. Bivariate analysis and adjusted logistic regression between loneliness and SD were performed. Results: 1133 women participated, half of them under 50 years old. 43.1% had emotional loneliness, 39.9% social loneliness and 43.3% general loneliness. SD were identified in 6 out of 10 women, those with mild SD presented an OR of 1.84, 1.85, and 1.64, for emotional, social and general loneliness, respectively. Loneliness was associated twice with moderate SD, and more than twice with severe SD. Very severe SD reached OR:5.81 for emotional loneliness, OR:4.38 social loneliness and OR:4.02 general loneliness. In the presence of religiosity, fear and anxiety due to COVID-19, statistical significance was retained for associations, except intense SD with general loneliness. Conclusions: SD were significantly associated with loneliness in our study population. It is important to assess sleep quality and perception of loneliness in middle-aged women, especially during periods of quarantine due to a pandemic to avoid health implications.

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