The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…

Previous research has attempted to understand why countries with relatively favorable conditions and high estimated average IQs (such as Finland and Japan) have a relatively low per capita number of scientific Nobel prizes. In the present study, we examine whether there is a relationship between national schizophrenia and left-handedness…

Mitochondrial dysfunction has been linked to many psychiatric disorders. Ketogenic diets have been shown to reduce mitochondrial dysfunction and thus may be helpful to patients who suffer from these disorders. In this article, we review the effects of a ketogenic diet in patients with psychiatric disorders such as autism, depression, anxiety, and…

Background: Mental health services for patients intellectual disabilities (ID) and additional mental illnesses are only sparsely studied. Objective: The objective was to describe a representative sample of patients with ID in a specialized psychiatric department. Methods: Data were collected from case files in a 7-year period. Of 143 invited…

Objective: The purpose of the present study was to discover the extent to which distinct "DSM" disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs. Method:…

It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number…

Examined autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD) symptoms in a clinically referred, non-ASD sample (N = 1160; ages 6-18) with and without oppositional defiant disorder (ODD). Mothers and teachers completed "DSM-IV"-referenced symptom checklists. Youth with ODD were subdivided into angry/irritable symptom (AIS) or…

We characterized a "t"(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a…

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism…

Childhood-onset psychiatric disorders, such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), mood disorders, obsessive compulsive spectrum disorders (OCSD), and schizophrenia (SZ), affect many school-age children, leading to a lower quality of life, including difficulties in school and personal relationships that…

As a parent of a son with an autism spectrum disorder (ASD), the author was aware of the various theories regarding genetic predictors, toxic and heavy metal exposure, and immunization after-effects. However, she had not seriously considered that genetics or a history of emotional and psychological challenges in her family line could have been…

Several recent studies have demonstrated a genetical overlap between autism and schizophrenia. However, at a behavioral level it remains unclear which features can validly distinguish adults with autism from an adult schizophrenia group. To this end, the present study compared 21 individuals with the autistic disorder and 21 individuals with…

Objective: To highlight recent discoveries in the area of genomic copy number variation in neuropsychiatric disorders including intellectual disability, autism, and schizophrenia. To emphasize new principles emerging from this area, involving the genetic architecture of disease, pathophysiology, and diagnosis. Method: Review of studies published…

Objective: This review considers the impact of chromosomal studies on the understanding of childhood neuropsychiatric syndromes, highlighting key discoveries, advances in technology, and new challenges faced by clinicians trying to interpret recent findings. Method: We review the literature on the genetics of child psychiatric disorders, including…

Until recently, the dominant view was that schizophrenia patients have limited, if any, neuropsychological impairments, and those that are observed are only secondary to the florid symptoms of the disorder. This view has dramatically changed. This review integrates recent evidence demonstrating the severity and profile of neuropsychological…