Neurodevelopmental disorders
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During the past decade, significant advances have been made in the field of neurodevelopmental disorders, resulting in a considerable impact on conceptualization, diagnostics, and practice. The second edition of Child neuropsychology: Assessment and interventions for neurodevelopmental disorders brings readers up to speed clearly and authoritatively, offering the latest information on neuroimaging technologies, individual disorders, and effective treatment of children and adolescents.
496p vimeyers 29-05-2024 2 2 Download
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This study aimed to evaluate the effect of online social support (OSS) on the psychological well-being (PWB) of caregivers of children with autism spectrum disorder (ASD). The role of gender as a moderator variable in the relationship between online social support and psychological well-being was also investigated.
20p viarnault 25-04-2024 1 1 Download
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Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor skills. High co-occurrence (comorbidity) of NDDs indicates a shared, underlying biological mechanism.
14p vibransone 28-03-2024 5 2 Download
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Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown.
15p vibransone 28-03-2024 5 2 Download
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Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families.
12p vibransone 28-03-2024 3 2 Download
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Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has been challenging. Here, we discuss papers that improve such detection.
5p vibransone 28-03-2024 5 2 Download
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes.
25p vibransone 28-03-2024 5 1 Download
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Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo mutations (DNMs) when compared to controls.
16p vioraclene 31-03-2024 6 2 Download
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Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), intellectual disability (ID), developmental disorders (DDs), and epilepsy (EPI). For schizophrenia (SCZ), however, while sets of genes have been implicated through the study of rare variation, only two risk genes have been identified.
22p vioraclene 31-03-2024 2 2 Download
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Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
20p vioraclene 31-03-2024 4 2 Download
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De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder.
9p vioraclene 31-03-2024 6 2 Download
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The next-generation sequencing revolution has substantially increased our understanding of the mutated genes that underlie complex neurodevelopmental disease. Exome sequencing has enabled us to estimate the number of genes involved in the etiology of neurodevelopmental disease, whereas targeted sequencing approaches have provided the means for quick and cost-effective sequencing of thousands of patient samples to assess the significance of individual genes.
9p vioraclene 31-03-2024 5 2 Download
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Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies.
11p vioraclene 31-03-2024 4 2 Download
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With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs.
26p vibransone 28-03-2024 4 2 Download
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Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic and phenotypic spectrum of KIS has yet to be described and the precise mechanism of disease fully understood.
19p viellison 28-03-2024 7 2 Download
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Previous large-scale studies of de novo variants identified a number of genes associated with neurode‑ velopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy number variants (CNVs), which have not been fully considered in previous studies, and increasing the sample size.
20p viellison 28-03-2024 2 2 Download
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Children with autism spectrum disorder “are people under the age of 16 with a distinct symptom of neurodevelopmental disorder caused by impairments in social interaction and communication, express shaped behavior and have one of restricted functions in their lives”. Based on the list of children’s developmental behavioral disorders applied at the National Children’s Hospital, the article focuses on 3 main groups of difficulties of children with autism spectrum disorder, including emotion, cognitiveness - behavior and social communication.
8p cotieubac1004 14-03-2024 1 0 Download
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Part 1 book "Varcarolis’ foundations of psychiatric-mental health nursing - A clinical approach" includes content: Mental health and mental illness, theories and therapies, theories and therapies, treatment settings, cultural implications, legal and ethical considerations, the nursing process and standards of care, therapeutic relationships, therapeutic communication, stress responses and stress management, childhood and neurodevelopmental disorders.
398p muasambanhan08 01-03-2024 1 0 Download
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Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently estimated to be 1.1%, though the genetic architecture underlying ASD both in Qatar and the greater Middle East has been largely unexplored.
16p vicwell 29-02-2024 4 2 Download
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Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed.
24p vicwell 29-02-2024 1 1 Download