Psychiatr Clin North Am
· 2025 Jun · PMID 40348425
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Posttraumatic Stress Disorder (PTSD) is a prevalent psychiatric condition characterized by intrusive thoughts, hyperarousal, avoidance, and negative cognitive alterations following traumatic events. While a significant p...Posttraumatic Stress Disorder (PTSD) is a prevalent psychiatric condition characterized by intrusive thoughts, hyperarousal, avoidance, and negative cognitive alterations following traumatic events. While a significant portion of individuals experience trauma, only 5% to 30% develop PTSD, with certain groups at higher risk. Research indicates that PTSD's pathophysiology involves altered fear processing, neuroendocrine dysfunction, and immune system changes. Genetic studies, particularly twin studies, suggest a heritability estimate of 30% to 40% for PTSD. Initially focused on gene-environment interactions, recent advancements in genome-wide association studies have identified significant genetic markers enhancing understanding of PTSD's genetic underpinnings.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348424
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Anxiety disorders are the most prevalent psychiatric conditions in the general population. Despite the early observation of family aggregation of anxiety disorders with a heritability of 30% to 50%, their exact genetic s...Anxiety disorders are the most prevalent psychiatric conditions in the general population. Despite the early observation of family aggregation of anxiety disorders with a heritability of 30% to 50%, their exact genetic structure is not yet determined. Evidence suggests a composition of common and rare genetic factors contributing to the etiology of anxiety disorders. Recent hypothesis-free genome-wide association studies in mega cohorts mostly with a broad anxiety phenotype rendered an increasing number of novel genetic loci. Epigenetic research is still in its infancy with first evidence showing dynamic changes in response to environmental influences and during the therapy course.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348423
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This report provides an update on current knowledge and applications of genomic research in attention deficit hyperactivity disorder (ADHD). The history, principles, and underlying assumptions for genetic studies on psyc...This report provides an update on current knowledge and applications of genomic research in attention deficit hyperactivity disorder (ADHD). The history, principles, and underlying assumptions for genetic studies on psychiatric disorders are reviewed. Recent DNA sequencing and genome-wide association studies have revealed common and rare genetic variants associated with ADHD. Communication of genetic knowledge in meetings with patients and their relatives and common misconceptions are addressed. The importance of recognizing genetic syndromes masquerading as ADHD or other common psychiatric disorders is emphasized and how genetic information can be used to improve diagnosis and therapy are discussed.
Ledbetter DH, Finucane B, Moreno-De-Luca D
… +1 more, Myers SM
Psychiatr Clin North Am
· 2025 Jun · PMID 40348422
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Autism Spectrum Disorder (ASD) is a neurodevelopmental psychiatric condition that shares significant clinical and genetic overlap with intellectualdisability (ID) and other neurodevelopmental disorders. Genetic testingin...Autism Spectrum Disorder (ASD) is a neurodevelopmental psychiatric condition that shares significant clinical and genetic overlap with intellectualdisability (ID) and other neurodevelopmental disorders. Genetic testingin ASD lags far behind that for ID, even though Professional Societiesrecommend genetic testing for all ASD individuals and insurance reimbursement is relatively good. The core competencies for child and adolescent psychiatrists include determining the etiology and diagnosisfor all childhood psychopathology, including ID and ASD. Child psychiatrists should recommend and order genetic testing by exomeor genome sequencing on all children with ASD.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348421
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Bipolar disorder (BD) affects approximately 2% of the global population, characterized by alternating episodes of mania or hypomania, and depression. It comprises two main types: bipolar I disorder, marked by severe mani...Bipolar disorder (BD) affects approximately 2% of the global population, characterized by alternating episodes of mania or hypomania, and depression. It comprises two main types: bipolar I disorder, marked by severe manic episodes, and bipolar II disorder, defined by milder hypomanic episodes. Individuals often experience rapid cycling and significant comorbidities, leading to decreased productivity and increased mortality rates. Early diagnosis and intervention are crucial for better outcomes. Both genetic and environmental factors contribute to BD's etiology, with genetic research promising improved diagnosis, novel therapeutic targets, and societal understanding that may help destigmatize the disorder.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348420
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The conceptualization of schizophrenia has evolved from Emil Kraepelin's identification of "dementia praecox" as a distinct illness characterized by cognitive and functional deficits to the modern understanding of its co...The conceptualization of schizophrenia has evolved from Emil Kraepelin's identification of "dementia praecox" as a distinct illness characterized by cognitive and functional deficits to the modern understanding of its complex nature. Recent research, including the "deficit syndrome," highlights enduring negative symptoms that correlate with poor functional outcomes. Genetic epidemiologic studies reveal a strong heritable basis (60%-80%) for schizophrenia, with its polygenic architecture overlapping with various mental health disorders. This complexity raises questions about targeted precision medicine. Recent advancements in biobanks and neurogenomics research are providing valuable insights that aim to improve patient outcomes through enhanced genomic understanding.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348419
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Anorexia nervosa (AN) is a debilitating and often refractory eating disorder that is unique among psychiatric disorders insofar as nutrition is key to recovery. Treatment options and efficacy are limited with no approved...Anorexia nervosa (AN) is a debilitating and often refractory eating disorder that is unique among psychiatric disorders insofar as nutrition is key to recovery. Treatment options and efficacy are limited with no approved medications for AN. Genetic studies are clarifying the etiology of AN, with the goal of eventually informing the development of innovative personalized pharmacologic, nutritional, microbial, and behavioral interventions. We present the current state of genome-wide and epigenome-wide association studies, gut microbiome research, and functional genomics investigations and discuss translating this knowledge into clinical practice.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348418
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Tourette syndrome (TS) and chronic tic disorder (CTD) are characterized by persistent verbal and motor tics of varying severity. We describe modern genetic studies of TS/CTD focused on common and rare variation, which qu...Tourette syndrome (TS) and chronic tic disorder (CTD) are characterized by persistent verbal and motor tics of varying severity. We describe modern genetic studies of TS/CTD focused on common and rare variation, which quantify genetic risk per patient and identify risk genes such as NRXN1 and CELSR3. In general, the burden of TS/CTD genetic risk correlates with tic severity and the likelihood of a case belonging to a multiplex family. These findings do not immediately alter patient treatment, though they may in some cases help better define sources of patient risk.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348417
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The ethics of psychiatric genetics and genomics is an emerging field, distinct from general genetics. Key ethical concerns include the implications for personhood and identity, the dual perception of psychiatric conditio...The ethics of psychiatric genetics and genomics is an emerging field, distinct from general genetics. Key ethical concerns include the implications for personhood and identity, the dual perception of psychiatric conditions as both afflictions and integral aspects of identity, and the unique vulnerabilities of affected populations regarding informed consent. The multifactorial nature of psychiatric disorders, characterized by complex genetic and environmental interactions, further complicates ethical considerations. This paper explores ethical issues in psychiatric genomic research, clinical applications, and prevention efforts, emphasizing the need for a multidisciplinary approach and the importance of context sensitivity, particularly in low-and-middle-income countries.
Brown LC, Zai G, Kennedy JL
… +4 more, Müller DJ, Tavakoli E, Bousman C, Maruf AA
Psychiatr Clin North Am
· 2025 Jun · PMID 40348416
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Pharmacogenomic (PGx) testing is an evidence-based strategy to optimize the selection and dosing of certain psychotropic medications. An individual's genetics play a role in medication response through pharmacokinetic an...Pharmacogenomic (PGx) testing is an evidence-based strategy to optimize the selection and dosing of certain psychotropic medications. An individual's genetics play a role in medication response through pharmacokinetic and pharmacodynamic mechanisms. The current evidence base of psychiatric PGx mainly focuses on the metabolism of psychotropics through the cytochrome P450 (CYP) system. PGx testing and decision support tools are not yet standardized, resulting in variations in interpretation and prescribing recommendations. Clinicians are encouraged to use PGx results as part of the clinical picture, in addition to the patient's overall clinical profile, in determining a personalized treatment plan for their patients.
Giusti-Rodríguez P, Okewole N, Jain S
… +2 more, Montalvo-Ortiz JL, Peterson RE
Psychiatr Clin North Am
· 2025 Jun · PMID 40348415
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The underrepresentation of non-European researchers, participants, and datasets in psychiatric genetics hinders the understanding of mental health conditions and perpetuates health inequities. Ancestral diversity in rese...The underrepresentation of non-European researchers, participants, and datasets in psychiatric genetics hinders the understanding of mental health conditions and perpetuates health inequities. Ancestral diversity in research is crucial for advancing insights into disease etiology and achieving equity in precision medicine. Key strategies include optimizing data use, fostering global collaboration for capacity building, and adopting best practices in research methods. Ensuring clinical impact, accountability, and multi-agency commitment is vital. A more inclusive approach will enhance understanding of genetic and environmental factors in mental health, leading to equitable and accessible health care outcomes for all populations.
Psychiatr Clin North Am
· 2025 Jun · PMID 40348414
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Psychiatric genetics has evolved from candidate-gene studies to whole-genome sequencing efforts. With hundreds of disease-associated loci now identified, functional interpretation of the associated loci becomes the criti...Psychiatric genetics has evolved from candidate-gene studies to whole-genome sequencing efforts. With hundreds of disease-associated loci now identified, functional interpretation of the associated loci becomes the critical next step toward translational applications. The article discusses achievements, challenges, and opportunities in psychiatric genomics associated with complexity and heterogeneity. Brain expression quantitative trait loci, single-cell ribonucleic acid-sequence, and functional genomics technologies are highlighted. It also covers newly developed techniques with improved spatiotemporal resolution, quality and sensitivity, coupled with advanced analytical methods and artificial intelligence. The power of collaborative research and inclusion of diverse populations will ensure a bright future for precision psychiatry.
Psychiatr Clin North Am
· 2025 Mar · PMID 39880518
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Tourette syndrome (TS) is associated with dysregulated cortico-striatal-thalamo-cortical neural circuitry, of which the primary implicated neurotransmitters include dopamine, glutamate, and gamma-aminobutyric acid. Pharm...Tourette syndrome (TS) is associated with dysregulated cortico-striatal-thalamo-cortical neural circuitry, of which the primary implicated neurotransmitters include dopamine, glutamate, and gamma-aminobutyric acid. Pharmacologic intervention for tics should be considered when tics are causing psychological, functional, or physical impairment, and behavioral treatment is either inaccessible or ineffective. Only 3 medications have Food and Drug Administration approval for TS, including 2 typical antipsychotics (pimozide and haloperidol) and 1 atypical antipsychotic (aripiprazole). As such, off-label pharmacologic interventions are frequently used. Though there is no hierarchical recommendation for medication in the treatment of TS, common first-line approaches often include alphaagonists, followed by atypical antipsychotics, followed by typical antipsychotics. Pharmacological treatment options utilizing novel mechanisms of action are emerging.
Psychiatr Clin North Am
· 2025 Mar · PMID 39880517
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This article provides an overview of evidence-based behavior therapy for Tourette syndrome (TS) in children, adolescents, and adults. First, this article describes evidence-based behavioral therapies for TS, examines the...This article provides an overview of evidence-based behavior therapy for Tourette syndrome (TS) in children, adolescents, and adults. First, this article describes evidence-based behavioral therapies for TS, examines their efficacy in randomized controlled trials, and identifies extant limitations. Second, based on the identified limitations, this article presents future directions for further research on behavioral therapies for TS. Finally, the article concludes with general recommendations for providing evidence-based behavior therapy for children, adolescents, and adults with TS.
Psychiatr Clin North Am
· 2025 Mar · PMID 39880516
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Tourette syndrome and persistent tic disorders (collectively, TS) are impairing childhood-onset neuropsychiatric conditions. Utilizing evidence-based assessments (EBA) is standard for effective and accurate screening, di...Tourette syndrome and persistent tic disorders (collectively, TS) are impairing childhood-onset neuropsychiatric conditions. Utilizing evidence-based assessments (EBA) is standard for effective and accurate screening, diagnosis, and monitoring of TS. EBAs consist of brief screening instruments, structured/semi-structured clinician-administered interviews, self-report, and parent-report and child-report. This article provides an overview of the quality, utility, and psychometric properties of available assessments to determine the presence of TS, evaluate symptom severity, and capture associated phenomenology (eg, premonitory urges, quality of life). The article concludes with considerations for best clinical practices and future directions for the EBA of TS.
Psychiatr Clin North Am
· 2025 Mar · PMID 39880515
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Individuals living with Tourette syndrome (TS) may benefit from cognitive assessment, as it may elucidate specific difficulties for which someone could receive accommodation and highlight relative strengths to build upon...Individuals living with Tourette syndrome (TS) may benefit from cognitive assessment, as it may elucidate specific difficulties for which someone could receive accommodation and highlight relative strengths to build upon. Eventually, cognitive assessment could help predicting symptom trajectory or treatment outcome. However, the literature on cognition in TS is often equivocal, which may be at least partly attributed to small samples, inconsistent consideration of co-occurring conditions, psychotropic medication, and developmental influence. Here, we aimed to provide a comprehensive overview of the literature on cognition in TS, to disentangle conflicting findings and make suggestions of how the findings can be applied to promote better outcomes.
Psychiatr Clin North Am
· 2025 Mar · PMID 39880514
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Tourette syndrome is defined by motor and vocal tics, yet our understanding of the pathophysiology of tics remains limited. Functional MRI (fMRI) can localize brain function related to the clinical phenomenology of tics....Tourette syndrome is defined by motor and vocal tics, yet our understanding of the pathophysiology of tics remains limited. Functional MRI (fMRI) can localize brain function related to the clinical phenomenology of tics. Here, we review extant fMRI studies examining brain activity during the premonitory urge, tic release, and tic suppression. Results are placed in the context of large-scale functional networks, given recent advancements in understanding the brain's functional network organization. During tic-related phenomena, brain activity follows consistent patterns involving specific networks, largely centered around the cingulo-opercular action mode network. This network-level framework provides a novel avenue for targeted-treatment methods.
Psychiatr Clin North Am
· 2025 Mar · PMID 39880513
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The pathophysiology of tic disorders involves an alteration in the transmission of messages through the cortico-basal ganglia-thalamo-cortical circuit. A major requirement for the passage of a message through this circui...The pathophysiology of tic disorders involves an alteration in the transmission of messages through the cortico-basal ganglia-thalamo-cortical circuit. A major requirement for the passage of a message through this circuit is an intact chemically mediated synaptic neurotransmitter system (ie, neurotransmitters and second messengers). This article reviews the scientific evidence supporting the involvement of a variety of neurotransmitters (ie, dopamine, glutamate, gamma-aminobutyric acid, serotonin, acetylcholine, and the opioid system). Although there are favored neurotransmitter abnormalities, their complex interactions suggest the likelihood that several are involved in the production of tics.