Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia

ConclusionsThe combined data suggest that missense variants inNRXN1 could be associated with phenotypes of neurodevelopmental disorders beyond the diagnosis of ASD and/or SCZ.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research

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CONCLUSIONS: The risk for major psychiatric disorders was consistently elevated across all types of FDRs of individuals with ASD. FDRs of individuals with ASD-ID are at further higher risk for ASD and schizophrenia. Our results provide leads for future investigation of shared etiologic pathways of ASD, ID and major psychiatric disorders and highlight the importance of mental health care delivered to at-risk families for early diagnoses and interventions. PMID: 32914742 [PubMed - as supplied by publisher]
Source: Psychological Medicine - Category: Psychiatry Authors: Tags: Psychol Med Source Type: research
Contributors : Benjamin Rein ; Tao Tan ; Fengwei Yang ; Wei Wang ; Jamal Williams ; Freddy Zhang ; Alea Mills ; Zhen YanSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusThe human 16p11.2 gene locus is a hot spot for copy number variations, which predispose carriers to a range of neuropsychiatric phenotypes. Microduplications of 16p11.2 are associated with autism spectrum disorder (ASD), intellectual disability (ID), and schizophrenia (SZ). Despite the debilitating nature of 16p11.2 duplications, the underlying molecular mechanisms remain poorly understood. Here we performed a comprehen...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of genetics will transform the classification and diagnosis of NDDs. In DSM-5, NDDs include intellectual disability (ID), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). Physicians in German-, French- and English-speaking countries (eg, Weikard, Georget, Esquirol, Down, Asperger, and Kanner) contributed to the phenomenological definitions of these disorders throughout the 18th and 20th centuries. These diagnostic categories show considerab...
Source: Dialogues in Clinical Neuroscience - Category: Neuroscience Tags: Dialogues Clin Neurosci Source Type: research
Abstract The human 15q13.3 microdeletion syndrome (DS) is caused by a heterozygous microdeletion (MD) affecting six genes: FAN1; MTMR10; TRPM1; KLF13; OTUD7A; and CHRNA7. Carriers are at risk for intellectual disability, epilepsy, autism spectrum disorder, and schizophrenia. Here we used the Df[h15q13]/+ mouse model with an orthologous deletion to further characterize molecular, neurophysiological, and behavioral parameters that are relevant to the 15q13.3 DS. First, we verified the expression and distribution of the α7 nicotinic acetylcholine receptor (nAChR), a gene product of the CHRNA7, in cortical and s...
Source: Brain Research - Category: Neurology Authors: Tags: Brain Res Source Type: research
Abstract Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single nucleotide genomic variants are among the most common known etiologies, with diagnostic yields approaching for some DBD cohorts. Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma. In the long-term, breakthroughs in the und...
Source: Current Opinion in Genetics and Development - Category: Genetics & Stem Cells Authors: Tags: Curr Opin Genet Dev Source Type: research
Psychiatric disorders, such as schizophrenia, depression, anxiety, and bipolar disorder, are common conditions that arise as a result of complex and heterogeneous combinations of genetic and environmental factors. In contrast to childhood neurodevelopmental conditions such as autism and intellectual disability, there are no clinical practice guidelines for applying genetic testing in the context of these conditions. But genetic counseling and genetic testing are not synonymous, and people who live with psychiatric disorders and their family members are often interested in what psychiatric genetic counseling can offer. Furt...
Source: Cold Spring Harbor perspectives in medicine - Category: Research Authors: Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research
Abstract Six articles in the June 2020 issue of the American Journal of Psychiatry address the overall construct of cognition. These articles have a broad connection to cognition, which is itself a broad concept. From the experimental psychology perspective, cognition is the set of processes associated with attending, learning, knowing, and remembering. From the clinical perspective, a number of neuropsychiatric conditions are defined by the presence of cognitive impairment, with onset ranging from childhood, such as attention deficit hyperactivity disorder and intellectual disability, to later life, such as demen...
Source: The American Journal of Psychiatry - Category: Psychiatry Authors: Tags: Am J Psychiatry Source Type: research
 When was the last time you simply enjoyed being in nature? Whether it’s a camping trip to the mountains, a walk in the park or just watching the squirrels from your backyard, being in nature is profoundly healing. In today’s Psych Central Podcast, our guest Richard Louv, a journalist, author and co-founder of the nonprofit Children &Nature Network, discusses the science behind nature’s healing powers. What counts as “nature?” Are pets included? What are some modern barriers to accessing nature, and how can we overcome them? Join us for the answers to these questions and more. SUBSCRIB...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Anxiety and Panic General Green and Environment Interview LifeHelper Mental Health and Wellness Podcast Stress The Psych Central Show Source Type: blogs
We report a case of schizophrenia in a male patient diagnosed with Fragile X syndrome. The patient has been followed up for a period of 3 years. The diagnostic and management challenges are discussed. This is a unique case of schizophrenia in Fragile X syndrome. We discuss the common molecular pathways to the expression of both schizophrenia and Fragile X syndrome. This is the first case report of schizophrenia in a patient with diagnosis of Fragile X syndrome in Australia.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: Brief Report Source Type: research
Deleterious mutations of MECP2 are responsible for Rett syndrome, a severe X-linked childhood neurodevelopmental disorder predominates in females, male patients are considered fatal. However, increasing reports indicate that some MECP2 mutations may also present various neuropsychiatric phenotypes, including intellectual disability, autism spectrum disorder, depression, cocaine addiction, and schizophrenia in both males and females, suggesting varied clinical expressivity in some MECP2 mutations. Most of the MECP2 mutations are private de novo mutations. To understand whether MECP2 mutations are associated with schizophren...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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