De novo damaging DNA coding mutations are associated with obsessive-compulsive disorder and overlap with Tourette ’s disorder and autism

Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Archival Report Source Type: research

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In this study, we pursue the mechanism of repetitive behaviors by performing stereological analyses and liquid chromatography/ mass spectrometry (LC-MS/MS) measurements of glutamate (Glut), GABA, 3,4-dihydroxyphenylacetic acid (DOPAC), dopamine (DA), leu-enkephalin (leu-enk), and dynorphin-A (dyn-A) in frontal cortex (FC), prefrontal cortex (PFC), and basal ganglia. The only significant stereological alteration was a negative correlation between repetitive behaviors and the cell count in the ventromedial striatum (VMS). Neurochemical analyses demonstrated a significant negative correlation between repetitive behaviors and ...
Source: Behavioural Brain Research - Category: Neurology Authors: Tags: Behav Brain Res Source Type: research
Becker muscular dystrophy (BMD) results in a decrease of dystrophin with potential implications for cognitive and psychiatric complications. To better understand these concerns, we conducted a retrospective study of the neuropsychological symptoms and respective pharmacotherapies of 74 BMD patients. Eight (10.8%) patients exhibited autistic features, 26 (35.1%) exhibited inattention/hyperactivity, 23 (31.1%) had learning difficulties, 27 (36.5%) had language delays, 9 (12.2%) had global intellectual delays, 4 (5.4%) had features of tics or Tourette's, 27 (36.5%) had emotion dysregulation, 14 (18.9%) had obsessive-compulsiv...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
(Elsevier) Results of a new study in the Journal of the American Academy of Child and Adolescent Psychiatry (JAACAP), published by Elsevier, reports that parental age is linked to the risk for the development of neuropsychiatric disorders in children, including autism spectrum disorder (ASD); attention-deficit/hyperactivity disorder (ADHD); obsessive-compulsive disorder (OCD); and Tourette's disorder/chronic tic disorder (TD/CT).
Source: EurekAlert! - Social and Behavioral Science - Category: International Medicine & Public Health Source Type: news
In conclusion, our study demonstrates that TS patients manifest “trait” abnormalities in the timing of sequential motor tasks, which are in keeping with the continuation phase of time processing, likely controlled by the sensorimotor loop of the cortico-basal ganglia network. We also show that the abnormal lateralization of fine motor control, previously reported in the context of the structural sequencing of fine motor tasks, extends also to motor timing accuracy. Finally, we highlight SMA connectivity as a potentially pivotal neural substrate of adaptive compensation of motor timing deficits in fine manual ta...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusions: Prefrontal gyrification is reduced in children with ADHD who also carry the DRD4 7R allele, and it relates to critical functional skills in the executive domain in carriers of the risk allele. More broadly, these effects highlight the importance of considering precise neurodevelopmental mechanisms through which risk alleles influence cortical neurogenesis and migration.IntroductionAttention deficit/hyperactivity disorder (ADHD) is a heterogeneous neuropsychiatric disorder characterized by developmentally inappropriate symptoms of inattention, impulsivity, and hyperactivity. The disorder is thought to affect ar...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
How old mothers and fathers are when their children are born may affect their children ’s risk of developing several neuropsychiatric disorders, according to astudy published this week in theJournal of the American Academy of Child&Adolescent Psychiatry.Magdalena Janecka, Ph.D., of the Icahn School of Medicine at Mount Sinai, N.Y., and colleagues analyzed data from the medical and psychiatric records of nearly 1.5 million people in Denmark who were born between 1980 and 2007. They looked at rates of autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OC...
Source: Psychiatr News - Category: Psychiatry Tags: ADHD autism chronic tic disorder Journal of the American Academy of Child & Adolescent Psychiatry Magdalena Janecka OCD paternal age pediatric disorders Tourette ’s syndrome Source Type: research
Parental age at birth has been shown to affect the rates of a range of neurodevelopmental disorders, but the understanding of the mechanisms through which it mediates different outcomes is still lacking. We used a population-based cohort to assess differential effects of parental age on estimates of risk across pediatric-onset neuropsychiatric disorders: autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD) and Tourette syndrome/chronic tic disorder (TS/CT).
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Tags: New Research Source Type: research
, Eating Disorder Working Group of the PGC, Major Depressive Disorder Working Group of the PGC, Obsessive Compulsive Disorders and Tourette Syndrome Working Group of the PGC, Schizophrenia CLOZUK, Substance Use Disorder Working Group of the PGC, Agrawal A, Børglum AD, Bulik CM, Daly MJ, Davis LK, Demontis D, Edenberg HJ, Grove J, Gelernter J, Neale BM, Pardiñas AF, Stahl E, Walters JTR, Walters R, Sullivan PF, Posthuma D, Polderman TJC PMID: 30334498 [PubMed - as supplied by publisher]
Source: Psychological Medicine - Category: Psychiatry Authors: Tags: Psychol Med Source Type: research
Publication date: 25 September 2018Source: Cell Reports, Volume 24, Issue 13Author(s): Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni CoppolaSummaryWe previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 tri...
Source: Cell Reports - Category: Cytology Source Type: research
Publication date: Available online 17 September 2018Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Dusan Hirjak, Andreas Meyer-Lindenberg, Stefan Fritze, Fabio Sambataro, Katharina M. Kubera, Robert C. WolfAbstractAlthough genuine motor abnormalities (GMA) are frequently found in schizophrenia, they are also considered as an intrinsic feature of bipolar, obsessive-compulsive, and neurodevelopmental disorders with early onset such as autism, ADHD, and Tourette syndrome. Such transnosological observations strongly suggest a common neural pathophysiology. This systematic review highlights the evidence on GMA and th...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
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