Psychiatry: Recent submissions
Now showing items 21-40 of 438
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The Molecular Mechanisms of rhIGF1 in the Treatment of Rett Syndrome and Related Disorders: Studies in Patients, Mouse and Cellular Models
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2022)Recombinant human Insulin-like Growth Factor 1 (rhIGF1) is an approved treatment for growth failure and IGF1 deficiency. IGF1 has multiple functions in the body including growth, cell survival, metabolism, ageing and ... -
Ancestral Legacies of an Insular Archipelago: A genomic exploration of prehistoric Japan and mainland Asia
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2022)The objective of this thesis is to use ancient genomic data and a variety of bioinformatic approaches to explore human evolutionary history in the Japanese archipelago and mainland Asia. This thesis presents a dense genomic ... -
Perinatal Depression and Children's Developmental Outcomes at 2 and 3 Years Postpartum
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2022)Depression is the most common perinatal psychiatric disorder and has been associated with a range of adverse outcomes for children, parents and overall family functioning. The current thesis sought to build on existing ... -
India's Mental Healthcare Act, 2017 Evaluation of the Act, its Context and Initial Implementation
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2022)The United Nations has initiated a paradigmatic shift in mental healthcare through the United Nations Convention on the Rights of Persons with Disabilities (CRPD), in addition to this the WHO has identified legislation as ... -
Autism spectrum disorder genomics: The progress and potential of genomic technologies
(2020)Genomic technologies have accelerated research progress in autism spectrum disorder (ASD) genomics and promises to further transform our understanding of the genetic basis of this neurodevelopmental disorder. Here we review ... -
Methyl-CpG2-binding protein 2 mediates overlapping mechanisms across brain disorders
(2020)MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional evidence suggests that MECP2 may underlie other ... -
Functional network mapping reveals state-dependent response to IGF-1 treatment in Rett Syndrome
(2020)Rett Syndrome (RTT) is a neurodevelopmental disorder associated with mutations in thegeneMeCP2, which is involved in the development and function of cortical networks. The clinical presentation of RTT is generally severe ... -
Derivation of iPSC lines from three young healthy donors of Caucasian origin (NUIGi035-A; NUIGi036-A; NUIGi037-A)
(2020)The induced pluripotent stem cell (iPSC) technology has offered an unprecedented opportunity for disease modelling and drug discovery. Here we used non-integrating Sendai viral method and derived iPSCs from three young ... -
Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation
(2020)Autism Spectrum Disorder (ASD) is a heterogeneous disorder that is often accompanied with many co-morbidities. Recent genetic studies have identified various pathways from hundreds of candidate risk genes with varying ... -
A framework for an evidence-based gene list relevant to autism spectrum disorder
(2020)Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in ... -
Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study.
(2020)Background: Copy number variants (CNVs) play a significant role in disease pathogenesis in a small subset of individuals with schizophrenia (~2.5%). Chromosomal microarray testing is a first-tier genetic test for many ... -
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
(2020)We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, ... -
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)
(2021)NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism ... -
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders:A Review of the Literature
(2020)Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are ... -
The role of rare compound heterozygous events in autism spectrum disorder.
(2020)The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity ... -
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
(2020)Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug ... -
Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure
(2020)Neuroimaging has been extensively used to study brain structure and function in individuals with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) over the past decades. Two of the main ... -
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)
(2021)NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different ... -
PICLS Staff Manual
(Prison Inreach & Court Liaison Service, NFMHS Central Mental Hospital, 2017) -
Investigating clinically relevant phenotypes of neurodevelopmental copy number variants in Children and Adults
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2021)Background: Neurodevelopmental copy number variants (ND CNVs) present with clinically pleiotropic effects, transcending psychiatric diagnostic borders. Gaining clarity on the neurodevelopmental and psychiatric phenotypic ...
