Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations

2016 ◽  
Vol 32 (3) ◽  
pp. 271-285 ◽  
Author(s):  
Nancy K. Rollins ◽  
Timothy N. Booth ◽  
Maria H. Chahrour
Keyword(s):  
Diffusion Tensor Imaging ◽  
Genetic Testing ◽  
Diffusion Tensor ◽  
Cortical Development ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Malformations Of Cortical Development ◽  
Callosal Agenesis ◽  
Institutional Review ◽  
Brain Malformations

To describe pontine axonal anomalies across diverse brain malformations. Institutional review board–approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development. Heterotopic and hypoplastic corticospinal tracts were seen in callosal agenesis and in focal malformations of cortical development. There were no patterns by chromosomal microarray analysis in the non-lissencephalic brains. In lissencephaly, there was no relationship between severity, deletion size, or appearance of the pontocerebellar tract. Pontine axonal anomalies may relate to defects in precerebellar neuronal migration, chemotactic signaling of the pontine neurons, and/or corticospinal tract pathfinding and collateral branching not detectable with routine genetic testing.

scholarly journals Diffusion tensor imaging in patients with epilepsy and malformations of cortical development

Brain ◽  
2001 ◽  
Vol 124 (3) ◽  
pp. 617-626 ◽  
Author(s):  
S. H. Eriksson ◽  
F. J. Rugg-Gunn ◽  
M. R. Symms ◽  
G. J. Barker ◽  
J. S. Duncan
Keyword(s):  
Diffusion Tensor Imaging ◽  
Diffusion Tensor ◽  
Cortical Development ◽  
Malformations Of Cortical Development ◽  
Patients With Epilepsy

scholarly journals Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia

2021 ◽  
Vol 12 ◽  
Author(s):  
Chia-Hsiang Chen ◽  
Min-Chih Cheng ◽  
Tsung-Ming Hu ◽  
Lieh-Yung Ping
Keyword(s):  
Genetic Testing ◽  
Microarray Analysis ◽  
Copy Number ◽  
Genetic Test ◽  
Molecular Genetic ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Settings ◽  
Schizophrenia Spectrum ◽  
Spectrum Disorders

Schizophrenia is a chronic, devastating mental disorder with complex genetic components. Given the advancements in the molecular genetic research of schizophrenia in recent years, there is still a lack of genetic tests that can be used in clinical settings. Chromosomal microarray analysis (CMA) has been used as first-tier genetic testing for congenital abnormalities, developmental delay, and autism spectrum disorders. This study attempted to gain some experience in applying chromosomal microarray analysis as a first-tier genetic test for patients with schizophrenia. We consecutively enrolled patients with schizophrenia spectrum disorder from a clinical setting and conducted genome-wide copy number variation (CNV) analysis using a chromosomal microarray platform. We followed the 2020 “Technical Standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” to interpret the clinical significance of CNVs detected from patients. We recruited a total of 60 patients (36 females and 24 males) into this study. We detected three pathogenic CNVs and one likely pathogenic CNV in four patients, respectively. The detection rate was 6.7% (4/60, 95% CI: 0.004–0.13), comparable with previous studies in the literature. Also, we detected thirteen CNVs classified as uncertain clinical significance in nine patients. Detecting these CNVs can help establish the molecular genetic diagnosis of schizophrenia patients and provide helpful information for genetic counseling and clinical management. Also, it can increase our understanding of the pathogenesis of schizophrenia. Hence, we suggest CMA is a valuable genetic tool and considered first-tier genetic testing for schizophrenia spectrum disorders in clinical settings.

scholarly journals Definitions and classification of malformations of cortical development: practical guidelines

Brain ◽  
2020 ◽  
Vol 143 (10) ◽  
pp. 2874-2894 ◽  
Author(s):  
Mariasavina Severino ◽  
Ana Filipa Geraldo ◽  
Norbert Utz ◽  
Domenico Tortora ◽  
Ivana Pogledic ◽  
...  
Keyword(s):  
Consensus Statement ◽  
Cortical Development ◽  
Malformations Of Cortical Development ◽  
Rare Disorders ◽  
Brain Malformations ◽  
Literature Reviews ◽  
Practical Guidelines ◽  
International Experts ◽  
Practical Recommendations

Abstract Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.

Diffusion Tensor Imaging for Brain Malformations

2014 ◽  
Vol 24 (4) ◽  
pp. 619-637 ◽  
Author(s):  
Thierry A.G.M. Huisman ◽  
Thangamadhan Bosemani ◽  
Andrea Poretti
Keyword(s):  
Diffusion Tensor Imaging ◽  
Diffusion Tensor ◽  
Brain Malformations

scholarly journals Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders

2015 ◽  
Vol 2 ◽  
pp. 2333794X1562371 ◽  
Author(s):  
John Peabody ◽  
Lisa DeMaria ◽  
Diana Tamandong-LaChica ◽  
Jhiedon Florentino ◽  
Maria Czarina Acelajado ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Primary Diagnosis ◽  
Simulated Patients ◽  
Chromosomal Microarray ◽  
Specific Gene ◽  
Chromosomal Microarray Analysis ◽  
Spectrum Disorders ◽  
Effective Use

To explore the routine and effective use of genetic testing for patients with intellectual disability and developmental delay (ID/DD), we conducted a prospective, randomized observational study of 231 general pediatricians (40%) and specialists (60%), using simulated patients with 9 rare pediatric genetic illnesses. Participants cared for 3 randomly assigned simulated patients, and care responses were scored against explicit evidence-based criteria. Scores were calculated as a percentage of criteria completed. Care varied widely, with a median overall score of 44.7% and interquartile range of 36.6% to 53.7%. Diagnostic accuracy was low: 27.4% of physicians identified the correct primary diagnosis. Physicians ordered chromosomal microarray analysis in 55.7% of cases. Specific gene sequence testing was used in 1.4% to 30.3% of cases. This study demonstrates that genetic testing is underutilized, even for widely available tests. Further efforts to educate physicians on the clinical utility of genetic testing may improve diagnosis and care in these patients.

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

2019 ◽  
Vol 266 (5) ◽  
pp. 1167-1181 ◽  
Author(s):  
Sara Uccella ◽  
Andrea Accogli ◽  
Domenico Tortora ◽  
Maria Margherita Mancardi ◽  
Lino Nobili ◽  
...  
Keyword(s):  
Cortical Development ◽  
Malformations Of Cortical Development ◽  
Callosal Agenesis ◽  
Neurological Phenotype

Diffusion Tensor Imaging of Brain Malformations

2019 ◽  
Vol 29 (3) ◽  
pp. 423-434 ◽  
Author(s):  
Avner Meoded ◽  
Thierry A.G.M. Huisman
Keyword(s):  
Diffusion Tensor Imaging ◽  
Diffusion Tensor ◽  
Brain Malformations

scholarly journals What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Lei Xu ◽  
Linda Crane Mitchell ◽  
Alice R. Richman ◽  
Kaitlyn Clawson
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Testing ◽  
Copy Number Variants ◽  
Cultural Influences ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Eastern Region ◽  
Children With Asd ◽  
Spectrum Disorders

Background. Chromosomal Microarray Analysis (CMA) is increasingly utilized to detect copy number variants among children and families affected with autism spectrum disorders (ASD). However, CMA is controversial due to possible ambiguous test findings, uncertain clinical implications, and other social and legal issues related to the test.Methods. Participants were parents of children with ASD residing in the North Eastern region of North Carolina, USA. We conducted individual, face-to-face interviews with 45 parents and inquired about their perceptions of CMA.Results. Three major themes dominated parents’ perceptions of CMA. None of the parents had ever heard of the test before and the majority of the parents postulated positive attitudes toward the test. Parents’ motivations in undergoing the test were attributed to finding a potential cause of ASD, to being better prepared for having another affected child, and to helping with future reproductive decisions. Perceived barriers included the cost of testing, risk/pain of CMA testing, and fear of test results.Conclusion. This study contributes to the understanding of psychosocial aspects and cultural influences towards adoption of genetic testing for ASD in clinical practice. Genetic education can aid informed decision-making related to CMA genetic testing among parents of children with ASD.

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