Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

2017 ◽  
Vol 4 (4) ◽  
pp. 315-325 ◽  
Author(s):  
K. Vill ◽  
A. Blaschek ◽  
D. Gläser ◽  
M. Kuhn ◽  
T. Haack ◽  
...  
Keyword(s):  
Early Onset ◽  
Clinical Findings ◽  
Diagnostic Approach ◽  
Referral Center

scholarly journals A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

2021 ◽  
Vol 11 (5) ◽  
pp. 2333
Author(s):  
Claudia Ciaccio ◽  
Chiara Pantaleoni ◽  
Franco Taroni ◽  
Daniela Di Bella ◽  
Stefania Magri ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Single Gene ◽  
Brain Mri ◽  
Genetic Defect ◽  
Cerebellar Atrophy ◽  
Chain Complex ◽  
Clinical Findings ◽  
Diagnostic Workup ◽  
Diagnostic Approach ◽  
Disease Definition

Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic defect. Most of the papers proposing a diagnostic workup for pediatric ataxias are based on neuroradiology or on the literature and experimental knowledge, with a poor participation of clinics in the process of disease definition. Our study aims to offer a different perspective on the way we approach cerebellar atrophy in developmental age, building a clinical-based diagnostic workup to guide molecular diagnosis. Methods: we recruited 52 patients with pediatric-onset cerebellar atrophy and definite disease categorization. Children underwent brain MRI, neurophysiological exams, metabolic investigations, and muscle biopsy with respiratory chain complex study. Single-gene sequencing, next-generation sequencing NGS panels, whole-exome sequencing (WES), and disease-specific techniques have been used to reach genetic confirmation. Results: Brain MRI is the main method of diagnosis, followed by tests on muscle biopsy and peripheral nervous system study. Other exams (e.g., metabolic investigations or evoked potentials) may be useful to narrow the list of diagnostic possibilities. Conclusions: We propose a diagnostic approach to cerebellar atrophy in children based on clinical findings, and support the evidence that a precise phenotypic definition may lead to the formulation of a definite diagnosis or otherwise guide the back phenotyping process derived from large molecular data.

Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy

2019 ◽  
Vol 104 (7) ◽  
pp. 932-937 ◽  
Author(s):  
Ke Xu ◽  
Yue Xie ◽  
Tengyang Sun ◽  
Xiaohui Zhang ◽  
Chunjie Chen ◽  
...  
Keyword(s):  
Early Onset ◽  
Retinal Dystrophy ◽  
Case Series ◽  
Clinical Findings ◽  
Chinese Patients ◽  
Pcr Analysis ◽  
Common Mutation ◽  
Essential Information ◽  
Leber Congenital Amaurosis ◽  
Targeted Next Generation Sequencing

BackgroundLeber congenital amaurosis (LCA) and early onset severe retinal dystrophy (EOSRD) are clinically and genetically heterogeneous inherited retinal disorders that cause severe visual impairment in children. The objective of this study was to describe the mutation profile and phenotypic characteristics in Chinese patients with LCA or EOSRD.MethodsRetrospective consecutive case series (2010–2017) study was performed in 148 probands (91 with LCA and 57 with EOSRD). All patients underwent ophthalmic evaluation. Mutations were revealed using targeted next-generation sequencing, followed by Sanger DNA-sequencing and real-time quantitative PCR analysis.ResultsWe identified two diseasing-causing mutations in 88 unrelated patients, heterozygous autosomal dominant mutations in 11 probands and X-linked hemizygous mutations in 11 patients, for an overall mutation detection rate of 74.3% (110/148). We detected 158 different disease-causing mutations involving 14 LCA genes, 16 retinitis pigmentosa or cone-rod dystrophy genes and 3 syndromic retinal dystrophy genes. Of these 158 mutations, 98 were novel. The most common mutation was p.Q141X of AIPL1, with a gene-specific allele frequency of 60%. The first five most frequently mutated genes were AIPL1 (11.0%), RPGRIP1 (8.8%) and CEP290, GUCY2D and RPE65 (each 7.7%) in the patients with LCA and RPGR (12.3%), CRB1 (10.5%), RPE65 (10.5%), RDH12 (7.0%) and RP2 (5.3%) in the patients with EOSRD.ConclusionsOur results revealed that the mutation spectrum of patients with LCA differs from that of the patients with EOSRD and established the configuration of the mutation frequencies for each LCA gene in Chinese patients, thereby providing essential information for future genetic counselling and gene therapy.

P2-311: EARLY ONSET DEGENERATIVE DEMENTIAS: ETIOLOGICAL CLASSIFICATION AND DEMOGRAPHIC CHARACTERISTICS IN SERBIAN TERTIARY REFERRAL CENTER

2006 ◽  
Vol 14 (7S_Part_15) ◽  
pp. P801-P802
Author(s):  
Gorana Mandic Stojmenovic ◽  
Elka Stefanova ◽  
Tanja Stojkovic ◽  
Biljana Salak-Djokic ◽  
Vera Ilic ◽  
...  
Keyword(s):  
Early Onset ◽  
Demographic Characteristics ◽  
Tertiary Referral ◽  
Tertiary Referral Center ◽  
Referral Center

scholarly journals Current issues in child and adolescent psychopharmacology. Part 1: Attention-deficit hyperactivity and affective disorders

2003 ◽  
Vol 9 (2) ◽  
pp. 86-94 ◽  
Author(s):  
Dave Coghill
Keyword(s):  
Clinical Practice ◽  
Attention Deficit ◽  
Affective Disorders ◽  
Early Onset ◽  
Selective Serotonin Reuptake Inhibitors ◽  
Child And Adolescent ◽  
Clinical Findings ◽  
Adolescent Psychopharmacology ◽  
Drug Treatments ◽  
Research Findings

Drug treatments play an important role in the treatment of child and adolescent psychiatric disorders. However, there is often a long delay before research findings are translated into clinical practice; furthermore, changes in clinical practice outstrip the available evidence. This paper focuses on current issues and research findings on the pharmacological treatment of attention-deficit hyperactivity disorder (ADHD) and affective disorders. Clinical findings from a US study of the treatment of ADHD with extended-release stimulants and non-stimulants, and the development and use of clinical guidelines are discussed. Clinical trials of selective serotonin reuptake inhibitors for early-onset depression, approaches to managing treatment-resistant depression and guidance on the drug treatment of early-onset mania are considered.

scholarly journals P4-090: Frequency and causes of early-onset dementia in a tertiary referral center in Istanbul

2013 ◽  
Vol 9 ◽  
pp. P737-P737
Author(s):  
Baris Topcular ◽  
Neslihan Behrem ◽  
Mesude Ozerden ◽  
Ayca Altinkaya ◽  
Nazan Karagoz Sakalli ◽  
...  
Keyword(s):  
Early Onset ◽  
Tertiary Referral ◽  
Tertiary Referral Center ◽  
Early Onset Dementia ◽  
Referral Center

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience

2019 ◽  
Vol 26 (5) ◽  
pp. 720-727 ◽  
Author(s):  
Sara Lega ◽  
Alessia Pin ◽  
Serena Arrigo ◽  
Cristina Cifaldi ◽  
Martina Girardelli ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Next Generation Sequencing ◽  
Bowel Disease ◽  
Early Onset ◽  
Genetic Diagnosis ◽  
Diagnostic Approach ◽  
Next Generation ◽  
Monogenic Diseases ◽  
Inflammatory Bowel ◽  
Generation Sequencing

Abstract Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent a genetic workup were collected. Results Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P < 0.001), and had disease onset ≤1 month of life (25% vs 1%; P = 0.006). Genetic diagnosis impacted patient management in 11 patients (92%), 7 of whom underwent BMT. Conclusion A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD and has an impact on patients’ management. Candidate sequencing may be deployed when clinical findings orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes.

A diagnostic approach to pediatric early onset chorea

2017 ◽  
Vol 21 ◽  
pp. e215-e216
Author(s):  
Lubov Blumkin ◽  
Ayelet Zerem ◽  
Hilla Ben-Pazi ◽  
Esther Leshinsky-Silver ◽  
Dorit Lev ◽  
...  
Keyword(s):  
Early Onset ◽  
Diagnostic Approach
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