Newborn screening (NBS) is a public health service aimed at identifying infants with severe genetic disorders. Genetic testing is now commonly used for secondary or confirmatory testing after a positive result in some NBS programs. Recently, next-generation sequencing (NGS) has emerged as a robust tool that enables large panels of genes to be scanned together rapidly. Rapid advances in NGS emphasize the potential for genomic sequencing to improve NBS programs. Neonatal genetic screening represents a critical advancement within contemporary NBS frameworks, integrating NGS to enhance disease detection sensitivity and specificity.

Glutamate, an excitatory neurotransmitter in the central nervous system, plays a role in neurodevelopment, learning, and memory. It is thought to interact with the GABAergic system in the development of panic symptoms; however, the relationship between blood glutamate levels and panic disorder severity remains unclear. While research on miRNAs is increasing, studies on their role in panic disorder are limited. This study aimed to evaluate blood glutamate levels and the expression of miR-138-2-3p, which affects glutamate receptors, in panic disorder.

Patients with severe mental illness (SMI) experience increased cardiovascular risks, leading to reduced life expectancy. Polygenic risk scores (PRS) prediction is promising for assessing cardiovascular risks. This study evaluated the predictive utility of cardiovascular PRS and the impact from risk-reducing interventions among patients with SMI.

Mood swings and irritable bowel syndrome (IBS) are closely related. However, the reason for the clinical concurrence of this phenomenon is unknown, and maybe it is because the two share genetic underpinnings.

Developmental and epileptic encephalopathy 9 (DEE9) is an X-linked genetic disorder characterized by the onset of seizures during infancy. Mutations in protocadherin 19 (PCDH19) are the main cause of DEE9. Our study aims to demonstrate the diagnostic process and long-term follow-up of a female pediatric case presenting with recurrent seizures.

Deficits in social communication and social interaction are core features of autism spectrum disorder (ASD), and studies suggest that loneliness and social isolation are common. ASD has a strong genetic basis, but the genetic architecture and overlap with social phenotypes are not clear.

Epigenetic alterations, like DNA methylation, are increasingly recognised as integral to the development of both neurological and psychiatric disorders. Mutations in the DNA methyltransferase 1 ( DNMT1 ) gene have also been linked to specific neurodegenerative syndromes. Despite these advances, when and how these alterations influence disease expression remains to be understood. This report highlights a novel heterozygous missense mutation in exon 30 of the DNMT1 gene that was detected in a middle-aged lady who presented with early-onset dementia on a background of long-standing psychosis with depression and neuroleptic sensitivity. This case expands the phenotypic spectrum associated with DNMT1 mutations and highlights the potential value of genetic testing in evaluating atypical neuropsychiatric presentations. The phenotypic complexity highlights the critical need for further research to elucidate the mechanistic links between DNMT1 mutations and neuropsychiatric disease, paving the way for targeted therapeutic interventions.

Proximal 11p duplication is often derived from a balanced translocation in a parent or inherited from a carrier (father or mother) with normal phenotype, and part of this duplication is a de-novo mutation. The main clinical manifestations in carriers are: mental retardation, eye abnormalities such as abnormal optic nerve morphology, strabismus, hyperopia, nystagmus, and facial abnormalities such as wide nose bridge and tapered fingers.

Schizophrenia is a significant clinical problem. Unfortunately, there are currently no biomarkers available for accurately identifying patients with schizophrenia who may be vulnerable to suicide. Because genetic and environmental factors play a role in suicide, we attempted to determine the role of DNA methylation and polygenic risk scores in the relationship to suicidal ideation.

Schizophrenia is a chronic neuropsychiatric disorder characterised by a range of positive and negative symptoms. The genetic aspect of schizophrenia is highly pleiotropic, as the complete set of neurodevelopmental factors contributing to the onset of the disease has yet to be fully identified. The Notch signalling pathway is increasingly recognised as a key player in the neurodevelopmental processes, where disruptions in the signalling may be linked to the development of schizophrenia. This study aims to evaluate the expression pattern of NOTCH1 and NOTCH4 at gene and protein levels among schizophrenia cases while considering lifestyle parameters as potential risk factors.

Genome-wide association studies (GWAS) implicate psychiatric, metabolic, and anthropometric factors in anorexia nervosa. We developed an 'experiential genetics' design, layering qualitative methodology atop GWAS to capture the subjective experience of anorexia nervosa.

The target of this research was to explore the serum miR-195-5p expression in children with autism spectrum disorder (ASD) and its association with the disease severity.

Predictive genetic testing for major depressive disorder (MDD) has become a widespread technological advancement to aid the process of early diagnosis and treatment selection. Despite these tests' growing accessibility to the public, scant attention has been given to the behavioural changes that test-takers experience in response to undergoing the procedure and learning about their predisposition to MDD. The current paper aimed to be the first literature review to compile and evaluate the existing evidence demonstrating both the desirable and potentially harmful psychological responses following these tests. Studies portray a complicated picture, including desirable changes in the domains of felt stigma, lifestyle habits, and beliefs in treatment efficacy; as well as noteworthy deteriorations in perceived agency, fatalistic thoughts, and negativity bias in retrospective memory. In light of these findings, our review concludes that clear psychoeducation before testing is crucial to ensure that behavioural changes are predominantly beneficial for test-takers.

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA). Accumulation of sulfatide, substrate of ARSA, in the central and peripheral nervous system causes neurodegeneration, which leads to neurologic and psychiatric symptoms. Adult-onset MLD is the least frequent type of MLD and shows both genetic and clinical heterogeneity. The clinical presentation differs according to pathogenic variants in the ARSA gene. Therefore, establishing genotype-phenotype correlation is crucial for the diagnosis and management of patients with adult-onset MLD.

Schizophrenia is a long-term neurological condition that impacts the quality of life of patients. To explore the expression of miR-20b-5p in schizophrenia, to analyze the diagnostic role of miR-20b-5p in schizophrenia, and to demonstrate that miR-20b-5p affects the progression of schizophrenia.

Although psychotic symptoms have occasionally been associated with pathogenic CHD2 variants, few articles have provided phenotypic information in this respect or described treatment response. We describe an 18-year-old female with a 15q26.1 interstitial deletion that disrupts CHD2, who at age 12 developed a variety of psychotic symptoms that responded well to quetiapine therapy. She also exhibited improvement in her cognitive functioning, language skills, and social responsiveness, which coincided with the initiation of metformin. This is only the third report to characterize antipsychotic treatment response in an individual harboring a pathogenic CHD2 variant, and the first to do so in relation to quetiapine. Although anecdotal, psychotic symptoms that develop in relation to pathogenic CHD2 variants may respond to atypical antipsychotic therapy, and metformin may have additional benefits in this population with respect to behavioral/social deficits. However, more evidence is needed before any firm conclusions can be drawn.

The aim herein was to investigate mitochondrial cytochrome B (MT-CYB) mutations in individuals with bipolar disorder. Stanniocalcin-1 ( STC1 ) and uncoupling protein 2 ( UCP2 ) mRNA expressions and their relationship with clinical data and each other were also investigated.

Chromosome 19q13 microdeletion syndrome is a rare genetic disorder characterized by prenatal and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. We present a 20-year-old female with hypermetamorphosis, punding, and frangophilia, initially misdiagnosed as schizophrenia. A neuropsychiatric clinical reevaluation of the case led to a diagnosis of melancholic depression and severe intellectual developmental delay. Cerebral MRI revealed hypoplasia of the frontal lobes and cerebellar vermis. Genetic testing at the age of 6 years revealed a 46 XX karyotype with an interstitial deletion of the long arm of chromosome 19 - del(19)(q13.11q13.13). The specific genetic defect, together with the cerebral abnormalities, was considered to be the cause of the unusual psychopathology. Every case of psychosis requires a comprehensive medical workup, as schizophrenia is one of the most commonly mimicked syndromes in medicine.