scholarly journals Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

2021 ◽  
Vol Volume 14 ◽  
pp. 4511-4515
Author(s):  
Diana Miclea ◽  
Adriana Szucs ◽  
Andreea Mirea ◽  
Delia-Maria Stefan ◽  
Florina Nazarie ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Copy Number ◽  
Copy Number Variants ◽  
Global Developmental Delay ◽  
Diagnostic Usefulness

Genomic Syndromes in Schizophrenia

2013 ◽  
pp. 247-255
Author(s):  
George Kirov ◽  
Michael C. O’Donovan ◽  
Michael J. Owen
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Individual Risk ◽  
Genomic Deletions ◽  
Pathogenic Cnvs ◽  
Cognition And Learning

Several submicroscopic genomic deletions and duplications known as copy number variants (CNVs) have been reported to increase susceptibility to schizophrenia. Those for which the evidence is particularly strong include deletions at chromosomal segments 1q21.1, 3q29, 15q11.2, 15q13.3, 17q12 and 22q11.2, duplications at 15q11.2-q13.1, 16p13.1, and 16p11.2, and deletions atthe gene NRXN1. The effect of each on individual risk is relatively large, but it does not appear that any of them is alone sufficient to cause disorder in carriers. These CNVs often arise as new mutations(de novo). Analyses of genes enriched among schizophrenia implicated CNVs highlight the involvement in the disorder of post-synaptic processes relevant to glutamatergicsignalling, cognition and learning. CNVs that contribute to schizophrenia risk also contribute to other neurodevelopmental disorders, including intellectual disability, developmental delay and autism. As a result of selection, all known pathogenic CNVs are rare, and none makes a sizeable contribution to overall population risk of schizophrenia, although the study of these mutations is nevertheless providing important insights into the origins of the disorder.

scholarly journals Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

2021 ◽  
Author(s):  
Diana Miclea ◽  
Sergiu Osan ◽  
Simona Bucerzan ◽  
Delia Stefan ◽  
Radu Popp ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Copy Number ◽  
Clinical Phenotype ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Global Developmental Delay ◽  
Chromosome 15 ◽  
Metabolic Evaluation ◽  
Pathogenic Cnvs

Abstract Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population and more and more often the genetic etiology is proven. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the technology SNP array. Material and methods. We analyzed 189 patients diagnosed with GDD//ID, presented in Clinical Emergency Hospital for Children Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic evaluation, internal malformation evaluation, psychiatric and neuropsychological examinations, metabolic evaluation, standard karyotyping. Genomic analysis was done using SNP array technique. Results. 50/189 patients (26.45%) presented pathogenic CNVs and uniparental disomy (32/189 patients, 16.93%) or VOUS (variants of unknown significance) (18/189 patients, 9.52%). Two patients presented uniparental disomy of chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. The recurrent pathogenic CNVs were seen in 18/32 patients (56%) with pathogenic findings (CNVs or uniparental disomy). Conclusions. These data encouraged to continue using a microarray genetic testing as useful test for the diagnostic performance together with other new tools as exome or genome sequencing for a global genome view in diseases which have not a specific phenotype, such as intellectual disability.

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

2016 ◽  
Vol 170 (4) ◽  
pp. 986-991 ◽  
Author(s):  
Karen G. Scheps ◽  
Liliana Francipane ◽  
Julián Nevado ◽  
Nora Basack ◽  
Myriam Attie ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Pediatric Patient ◽  
Copy Number ◽  
Copy Number Variants ◽  
Multiple Copy ◽  
Hb H Disease

scholarly journals Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

2021 ◽  
Author(s):  
Uirá Souto Melo ◽  
Devon Bonner ◽  
Kevin C. Kent Lloyd ◽  
Ala Moshiri ◽  
Brandon Willis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Global Developmental Delay ◽  
Loss Of Function

scholarly journals Characteristics of seizure frequency among Malaysian children diagnosed with structural– metabolic epilepsy

2012 ◽  
Vol 03 (03) ◽  
pp. 244-250 ◽  
Author(s):  
Muhannad RM Salih ◽  
Mohd Baidi Bahari ◽  
Mohamed Azmi Ahmad Hassali ◽  
Asrul Akmal Shafie ◽  
Omer Qutaiba B Al-lela ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Seizure Frequency ◽  
Substantial Reduction ◽  
Focal Seizure ◽  
Global Developmental Delay ◽  
Neurology Clinic ◽  
Collection Form ◽  
Metabolic Epilepsy

ABSTRACT Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient’s demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural–metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.

scholarly journals Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Ying Qiao ◽  
Eloi Mercier ◽  
Jila Dastan ◽  
Jane Hurlburt ◽  
Barbara McGillivray ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Copy Number Variants
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