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https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#1
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28555406/investigation-of-previously-implicated-genetic-variants-in-chronic-tic-disorders-a-transmission-disequilibrium-test-approach
#2
Mohamed Abdulkadir, Douglas Londono, Derek Gordon, Thomas V Fernandez, Lawrence W Brown, Keun-Ah Cheon, Barbara J Coffey, Lonneke Elzerman, Carolin Fremer, Odette Fründt, Blanca Garcia-Delgar, Donald L Gilbert, Dorothy E Grice, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Ewgeni Jakubovski, Young Key Kim, Young Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Andrea G Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Kirsten Müller-Vahl, Alexander Münchau, Tara L Murphy, Kerstin J Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H Zinner, Robert A King, Jay A Tischfield, Gary A Heiman, Pieter J Hoekstra, Andrea Dietrich
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort...
May 29, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28523977/the-application-of-deep-brain-stimulation-in-the-treatment-of-psychiatric-disorders
#3
Ilse Graat, Martijn Figee, Damiaan Denys
Deep brain stimulation (DBS) is a last-resort treatment for neurological and psychiatric disorders that are refractory to standard treatment. Over the last decades, the progress of DBS in psychiatry has been slower than in neurology, in part owing to the heterogenic symptomatology and complex neuroanatomy of psychiatric disorders. However, for obsessive-compulsive disorder (OCD) DBS is now an accepted treatment. This study first reviews clinical outcomes and mechanisms of DBS for OCD, and then discusses these results in an overview of current and future psychiatric applications, including DBS for mood disorders, Tourette's syndrome, addiction, anorexia nervosa, autism, schizophrenia, and anxiety disorders...
April 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28436342/comparison-of-neural-substrates-of-temporal-discounting-between-youth-with-autism-spectrum-disorder-and-with-obsessive-compulsive-disorder
#4
C O Carlisi, L Norman, C M Murphy, A Christakou, K Chantiluke, V Giampietro, A Simmons, M Brammer, D G Murphy, D Mataix-Cols, K Rubia
BACKGROUND: Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) share abnormalities in hot executive functions such as reward-based decision-making, as measured in the temporal discounting task (TD). No studies, however, have directly compared these disorders to investigate common/distinct neural profiles underlying such abnormalities. We wanted to test whether reward-based decision-making is a shared transdiagnostic feature of both disorders with similar neurofunctional substrates or whether it is a shared phenotype with disorder-differential neurofunctional underpinnings...
April 24, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28430672/lamotrigine-uses-in-psychiatric-practice-beyond-bipolar-prophylaxis-a-hope-or-hype
#5
Ahmed Naguy, Najah Al-Enezi
BACKGROUND: Lamotrigine (LAM), an antiepileptic, with panoply of indications and uses in neurology, is FDA approved, in psychiatry, for bipolar prophylaxis. Apart from this indication, trend of its use in psychiatry is on the rise addressing a multitude of disorders. STUDY QUESTION: LAM remains one of only few psychotropic drugs with antiglutamate activity. This might render LAM a potential therapeutic option in treatment-resistant major psychiatric disorders. We reviewed LAM pharmacology and its diverse indications while examining the extant evidence...
April 19, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#6
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28389841/an-initial-case-series-of-intensive-cognitive-behavioral-therapy-for-obsessive-compulsive-disorder-in-adolescents-with-autism-spectrum-disorder
#7
Marina Iniesta-Sepúlveda, Joshua M Nadeau, Amaya Ramos, Brian Kay, Bradley C Riemann, Eric A Storch
Obsessive-compulsive disorder (OCD) is prevalent among youth with autism spectrum disorder (ASD). Cognitive-behavioral therapy (CBT) with ASD-specific modifications has support for treating OCD in this population; however, use of intensive CBT in youth with ASD and severe OCD has not been tested. The current study examined the preliminary effectiveness of an individualized intensive CBT protocol for OCD in adolescents with ASD. Nine adolescents (aged 11-17 years) completed a regimen of intensive CBT (range 24-80 daily sessions) incorporating exposure with response prevention (ERP)...
April 7, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/28377698/striatal-cholinergic-interneurons-modulate-spike-timing-in-striosomes-and-matrix-by-an-amphetamine-sensitive-mechanism
#8
Jill R Crittenden, Carolyn J Lacey, Feng-Ju Weng, Catherine E Garrison, Daniel J Gibson, Yingxi Lin, Ann M Graybiel
The striatum is key for action-selection and the motivation to move. Dopamine and acetylcholine release sites are enriched in the striatum and are cross-regulated, possibly to achieve optimal behavior. Drugs of abuse, which promote abnormally high dopamine release, disrupt normal action-selection and drive restricted, repetitive behaviors (stereotypies). Stereotypies occur in a variety of disorders including obsessive-compulsive disorder, autism, schizophrenia and Huntington's disease, as well as in addictive states...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28343067/reading-problems-and-major-mental-disorders-co-occurrences-and-familial-overlaps-in-a-swedish-nationwide-cohort
#9
Martin Cederlöf, Barbara Maughan, Henrik Larsson, Brian M D'Onofrio, Robert Plomin
Reading problems often co-occur with ADHD and conduct disorder. However, the patterns of co-occurrence and familial overlap between reading problems and other psychiatric disorders have not been systematically explored. We conducted a register-based cohort study including 8719 individuals with reading problems and their siblings, along with matched comparison individuals. Conditional logistic regressions estimated risks for ADHD, autism, obsessive-compulsive disorder, anorexia nervosa, schizophrenia, bipolar disorder, depression, substance use disorder, and violent/non-violent criminality in individuals with reading problems and their siblings...
March 21, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28301091/shorter-sleep-duration-is-associated-with-social-impairment-and-comorbidities-in-asd
#10
Olivia J Veatch, James S Sutcliffe, Zachary E Warren, Brendan T Keenan, Melissa H Potter, Beth A Malow
Sleep disturbance, particularly insomnia, is common in children with autism spectrum disorders (ASD). Furthermore, disturbed sleep affects core symptoms and other related comorbidities. Understanding the causes and consequences of sleep disturbances in children with ASD is an important step toward mitigating these symptoms. To better understand the connection between sleep duration and ASD severity, we analyzed ASD-related symptoms using the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), IQ scores, and parent reports of the average amount of time slept per night that were available in the medical histories of 2,714 children with ASD in the Simons Simplex Collection (SSC)...
March 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28281020/restricted-repetitive-behaviors-in-autism-spectrum-disorder-and-obsessive-compulsive-disorder-a-comparative-review
#11
Marina Jiujias, Elizabeth Kelley, Layla Hall
This review paper critically examines literature regarding restricted and repetitive behaviors (RRBs) in Autism Spectrum Disorder (ASD) and Obsessive-Compulsive Disorder (OCD). The similar behavioral profiles of these disorders presents the potential for confusion regarding diagnoses and intervention efforts. As such, this review highlights the similarities and differences between RRBs in ASD and OCD. The developmental trajectories of RRBs are presented, followed by an exploration of three constructs implicated in RRB manifestation: anxiety, executive functioning, and sensory phenomena...
March 9, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/28236160/asd-traits-among-youth-with-obsessive-compulsive-disorder
#12
Donna L Griffiths, Lara J Farrell, Allison M Waters, Susan W White
Research has shown high rates of comorbid psychiatric disorders among samples of youth with obsessive-compulsive disorder (OCD) (Farrell et al., Psychiatry Res 199(2):115-123, 2012; Lewin et al., Psychiatry Res 178(2):317-322, 2010; POTS Team, J Am Med Assoc 292(16):1969-1976, 2004). Autism and autistic traits co-occur at high rates within clinical samples of youth with OCD (Ivarsson and Melin in J Anxiety Disord 22(6):969-978, 2008; Stewart et al. in Child Psychiatry Hum Dev 1-9, 2016). This study extends the literature by examining the relationship between ASD traits, family accommodation, and functional impairment in a sample of youth with OCD across a wide age range (n = 80; aged 7-17 years)...
February 24, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/28154539/temporal-association-of-certain-neuropsychiatric-disorders-following-vaccination-of-children-and-adolescents-a-pilot-case-control-study
#13
Douglas L Leslie, Robert A Kobre, Brian J Richmand, Selin Aktan Guloksuz, James F Leckman
BACKGROUND: Although the association of the measles, mumps, and rubella vaccine with autism spectrum disorder has been convincingly disproven, the onset of certain brain-related autoimmune and inflammatory disorders has been found to be temporally associated with the antecedent administration of various vaccines. This study examines whether antecedent vaccinations are associated with increased incidence of obsessive-compulsive disorder (OCD), anorexia nervosa (AN), anxiety disorder, chronic tic disorder, attention deficit hyperactivity disorder, major depressive disorder, and bipolar disorder in a national sample of privately insured children...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28135888/curcumin-for-neuropsychiatric-disorders-a-review-of-in-vitro-animal-and-human-studies
#14
Adrian L Lopresti
Turmeric has been used in traditional medicine for centuries to treat a range of ailments. Its primary active constituent curcumin, can influence an array of biological activities. Many of these, such as its anti-inflammatory, antioxidant, neuroprotective, and monoaminergic effects are dysregulated in several neuropsychiatric disorders. In this systematic review, in vitro, animal, and human studies investigating the potential of curcumin as a treatment for neuropsychiatric disorders such as major depressive disorder, post-traumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD), bipolar disorder, psychotic disorders, and autism are reviewed, and directions for future research are proposed...
March 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28117842/histamine-h3r-receptor-activation-in-the-dorsal-striatum-triggers-stereotypies-in-a-mouse-model-of-tic-disorders
#15
M Rapanelli, L Frick, V Pogorelov, H Ohtsu, H Bito, C Pittenger
Tic disorders affect ~5% of the population and are frequently comorbid with obsessive-compulsive disorder, autism, and attention deficit disorder. Histamine dysregulation has been identified as a rare genetic cause of tic disorders; mice with a knockout of the histidine decarboxylase (Hdc) gene represent a promising pathophysiologically grounded model. How alterations in the histamine system lead to tics and other neuropsychiatric pathology, however, remains unclear. We found elevated expression of the histamine H3 receptor in the striatum of Hdc knockout mice...
January 24, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28032202/pediatric-obsessive-compulsive-disorder-with-tic-symptoms-clinical-presentation-and-treatment-outcome
#16
Davíð R M A Højgaard, Gudmundur Skarphedinsson, Judith Becker Nissen, Katja A Hybel, Tord Ivarsson, Per Hove Thomsen
Some studies have shown that children and adolescents with obsessive-compulsive disorder (OCD) and co-morbid tics differ from those without co-morbid tics in terms of several demographic and clinical characteristics. However, not all studies have confirmed these differences. This study examined children and adolescents with OCD and with possible or definite tic specifiers according to the DSM-5 in order to see whether they differ from patients without any tic symptoms regarding clinical presentation and outcome of cognitive behavioral therapy (CBT)...
December 28, 2016: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28013441/pragmatic-competency-and-obsessive-compulsive-disorder-a-comparative-assessment-with-normal-controls
#17
Shima Ghahari, Hamidreza Hassani, Maryam Purmofrad
Unlike such cognitive impairments as autism and schizophrenia, the speech pattern in obsessive-compulsive disorder (OCD) has largely remained underrepresented. We examined the pragmatic competence of OCD-affected individuals under two variant modes: pragmatic recognition and pragmatic production. In the recognition phase, the informants completed a discourse completion test around two speech acts of request and apology (20 high power distance situations). The production phase was carried out through an interview during which the informants' communication behaviors were rated on the basis of the Orion's pragmatic language skills checklist (OPLS) subscales...
December 24, 2016: Journal of Psycholinguistic Research
https://www.readbyqxmd.com/read/27993229/development-of-two-dimensional-measures-of-restricted-and-repetitive-behavior-in-parents-and-children
#18
David W Evans, Mirko Uljarević, Laina G Lusk, Eva Loth, Thomas Frazier
OBJECTIVE: Restricted and repetitive behaviors (RRBs) are a heterogeneous set of behaviors common across a wide range of neurodevelopmental disorders (NDDs) and neuropsychiatric disorders (NPDs) that extend well into the general population. This study introduces 2 dimensional measurements of RRBs for use in typical and clinical populations from infancy to adulthood. METHOD: The Childhood Routines Inventory-Revised (CRI-R) and the Adult Routines Inventory (ARI) were created and administered online to a nationally representative cohort of 3,108 parents with 3,032 children (range 12 months to 17 years 11 months)...
January 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27887721/comparative-multimodal-meta-analysis-of-structural-and-functional-brain-abnormalities-in-autism-spectrum-disorder-and-obsessive-compulsive-disorder
#19
Christina O Carlisi, Luke J Norman, Steve S Lukito, Joaquim Radua, David Mataix-Cols, Katya Rubia
BACKGROUND: Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) share inhibitory control deficits possibly underlying poor control over stereotyped and repetitive and compulsive behaviors, respectively. However, it is unclear whether these symptom profiles are mediated by common or distinct neural profiles. This comparative multimodal meta-analysis assessed shared and disorder-specific neuroanatomy and neurofunction of inhibitory functions. METHODS: A comparative meta-analysis of 62 voxel-based morphometry and 26 functional magnetic resonance imaging (fMRI) studies of inhibitory control was conducted comparing gray matter volume and activation abnormalities between patients with ASD (structural MRI: 911; fMRI: 188) and OCD (structural MRI: 928; fMRI: 247) and control subjects...
October 13, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27871641/longitudinal-course-of-bipolar-disorder-in-youth-with-high-functioning-autism-spectrum-disorder
#20
Xenia Borue, Carla Mazefsky, Brian T Rooks, Michael Strober, Martin B Keller, Heather Hower, Shirley Yen, Mary Kay Gill, Rasim S Diler, David A Axelson, Benjamin I Goldstein, Tina R Goldstein, Neal Ryan, Fangzi Liao, Jeffrey I Hunt, Daniel P Dickstein, Boris Birmaher
OBJECTIVE: To provide the first longitudinal characterization of mood and psychosocial functioning in youth with comorbid bipolar (BD) and autism spectrum (ASD) disorders. METHOD: The Course and Outcome of Bipolar Youth study followed 368 youth (aged 7-17 years) with DSM-IV bipolar I (BP-I), BP-II, or Not Otherwise Specified (NOS) for, on average, 9 years using the Longitudinal Interval Follow-up Evaluation. This subgroup analysis compared youth with and without ASD on clinical presentation, percentage of time with mood symptomatology, and psychosocial functioning...
December 2016: Journal of the American Academy of Child and Adolescent Psychiatry
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