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https://www.readbyqxmd.com/read/28334053/new-insights-of-altered-lipid-profile-in-fragile-x-syndrome
#1
Artuela Çaku, Nabil G Seidah, Audrey Lortie, Nancy Gagné, Patrice Perron, Jean Dubé, Francois Corbin
BACKGROUND: Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). Clinical picture is characterized by cognitive impairment associated with a broad spectrum of psychiatric comorbidities including autism spectrum disorders and attention-deficit/hyperactivity disorders. Some of these disorders have been associated with lipid abnormalities and lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate the lipid profile of French Canadian-FXS individuals and to identify the altered components of cholesterol metabolism as well as their association with clinical profile...
2017: PloS One
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#2
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28331380/classical-conditioning-for-preserving-the-effects-of-short-melatonin-treatment-in-children-with-delayed-sleep-a-pilot-study
#3
Annette van Maanen, Anne Marie Meijer, Marcel G Smits, Frans J Oort
Melatonin treatment is effective in treating sleep onset problems in children with delayed melatonin onset, but effects usually disappear when treatment is discontinued. In this pilot study, we investigated whether classical conditioning might help in preserving treatment effects of melatonin in children with sleep onset problems, with and without comorbid attention deficit hyperactivity disorder (ADHD) or autism. After a baseline week, 16 children (mean age: 9.92 years, 31% ADHD/autism) received melatonin treatment for 3 weeks and then gradually discontinued the treatment...
2017: Nature and Science of Sleep
https://www.readbyqxmd.com/read/28319054/association-of-attention-deficit-hyperactivity-disorder-and-autism-spectrum-disorders-with-mean-platelet-volume-and-vitamin-d
#4
Mesut Garipardic, Murat Doğan, Keziban Asli Bala, Tuba Mutluer, Sultan Kaba, Oktay Aslan, Lokman Üstyol
BACKGROUND The purpose of this study was to assess the values of the mean platelet volume (MPV) in children with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASDs) to determine the risk of cardiovascular disease in these 2 disorder groups. MATERIAL AND METHODS The study included a total of 79 patients with ADHD or ASDs and controls in the Van region of Turkey. The control group included subjects of matching age and sex with no ADHD, ASDs, or chronic disease and taking no vitamins...
March 20, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28317224/pharmacotherapy-for-the-treatment-of-aggression-in-pediatric-and-adolescent-patients-with-autism-spectrum-disorder-comorbid-attention-deficit-hyperactivity-disorder-a-questionnaire-survey-of-571-psychiatrists
#5
Kazuhiko Yamamuro, Noa Tsujii, Toyosaku Ota, Toshifumi Kishimoto, Junzo Iida
AIMS: Both attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are frequently accompanied by serious aggression that requires psychiatric treatment. However, little is known about the experiences psychiatrists have had using pharmacotherapy to treat aggression in patients who have both ASD and ADHD (ASD/ADHD). The purpose of this study was to examine the experiences of Japanese child and adolescent psychiatrists in prescribing medication for aggression in patients with ASD/ADHD...
March 20, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28315722/risk-mitigation-for-children-exposed-to-drugs-during-gestation-a-critical-role-for-animal-preclinical-behavioral-testing
#6
REVIEW
Irving Zucker
Many drugs with unknown safety profiles are administered to pregnant women, placing their offspring at risk. I assessed whether behavioral outcomes for children exposed during gestation to antidepressants, anxiolytics, anti-seizure, anti-nausea and sedative medications can be predicted by more extensive animal studies than are part of the FDA approval process. Human plus rodent data were available for only 8 of 33 CNS-active drugs examined. Similar behavioral and cognitive deficits, including autism and ADHD emerged in human offspring and in animal models of these disorders after exposure to fluoxetine, valproic acid, carbamazepine, phenytoin, phenobarbital, acetaminophen and ibuprofen...
March 15, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28299159/autism-spectrum-disorder-in-a-community-based-sample-with-neurodevelopmental-problems-in-lagos-nigeria
#7
Yewande O Oshodi, Andrew T Olagunju, Motunrayo A Oyelohunnu, Elizabeth A Campbell, Charles S Umeh, Olatunji F Aina, Wellington Oyibo, Folusho E A Lesi, Joseph D Adeyemi
Autism Spectrum Disorder (ASD) is a globally prevalent neurodevelopmental disorder for which early diagnosis and intervention is the mainstay of management. In the African continent, limited data is available regarding the non-clinic based samples. Lack of information available to caregivers and inadequate skilled manpower often limit early detection and access to the few available though under resourced services in the community. Community based screening can be an important drive to create awareness and improve information dissemination regarding services available for those living with this disorder...
December 31, 2016: Journal of Public Health in Africa
https://www.readbyqxmd.com/read/28289475/combined-genome-wide-linkage-and-targeted-association-analysis-of-head-circumference-in-autism-spectrum-disorder-families
#8
M Woodbury-Smith, D A Bilder, J Morgan, L Jerominski, T Darlington, T Dyer, A D Paterson, H Coon
BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28288114/disruption-of-the-atxn1-cic-complex-causes-a-spectrum-of-neurobehavioral-phenotypes-in-mice-and-humans
#9
Hsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, Wei Wang, Ji-Yoen Kim, Ronald Richman, Ying-Wooi Wan, Szu-Ying Yeh, Jay M Patel, Xiuyun Liu, Tao Lin, Yoontae Lee, John D Fryer, Jing Han, Maria Chahrour, Richard H Finnell, Yunping Lei, Maria E Zurita-Jimenez, Priyanka Ahimaz, Kwame Anyane-Yeboa, Lionel Van Maldergem, Daphne Lehalle, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Julien Thevenon, Margot A Cousin, Della E Bro, Brendan C Lanpher, Eric W Klee, Nora Alexander, Matthew N Bainbridge, Harry T Orr, Roy V Sillitoe, M Cecilia Ljungberg, Zhandong Liu, Christian P Schaaf, Huda Y Zoghbi
Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons...
March 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28285251/neurodevelopmental-disorders-in-young-violent-offenders-overlap-and-background-characteristics
#10
Eva Billstedt, Henrik Anckarsäter, Märta Wallinius, Björn Hofvander
Neurodevelopmental disorders (Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), tic disorder, intellectual disability (ID)), in prison populations have received increased attention but the focus has generally been on one single condition leaving out the global picture. This study assessed the prevalence and overlap of neurodevelopmental disorders (NDD) in a consecutive cohort (n=270) of young adult male offenders (age 18-25 years), sentenced for "hands-on" violent offences and serving prison time in Swedish prisons...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28283256/celiac-disease-is-associated-with-childhood-psychiatric-disorders-a-population-based-study
#11
Agnieszka Butwicka, Paul Lichtenstein, Louise Frisén, Catarina Almqvist, Henrik Larsson, Jonas F Ludvigsson
OBJECTIVES: To determine the risk of future childhood psychiatric disorders in celiac disease, assess the association between previous psychiatric disorders and celiac disease in children, and investigate the risk of childhood psychiatric disorders in siblings of celiac disease probands. STUDY DESIGN: This was a nationwide registry-based matched cohort study in Sweden with 10 903 children (aged <18 years) with celiac disease and 12 710 of their siblings. We assessed the risk of childhood psychiatric disorders (any psychiatric disorder, psychotic disorder, mood disorder, anxiety disorder, eating disorder, psychoactive substance misuse, behavioral disorder, attention-deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and intellectual disability)...
March 7, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28275544/polygenic-risk-for-five-psychiatric-disorders-and-cross-disorder-and-disorder-specific-neural-connectivity-in-two-independent-populations
#12
Tianqi Wang, Xiaolong Zhang, Ang Li, Meifang Zhu, Shu Liu, Wen Qin, Jin Li, Chunshui Yu, Tianzi Jiang, Bing Liu
Major psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), autism (AUT), bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SZ), are highly heritable and polygenic. Evidence suggests that these five disorders have both shared and distinct genetic risks and neural connectivity abnormalities. To measure aggregate genetic risks, the polygenic risk score (PGRS) was computed. Two independent general populations (N = 360 and N = 323) were separately examined to investigate whether the cross-disorder PGRS and PGRS for a specific disorder were associated with individual variability in functional connectivity...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28266803/aggressive-behaviors-and-treatable-risk-factors-of-preschool-children-with-autism-spectrum-disorder
#13
Chen Chen, Yi-Dong Shen, Guang-Lei Xun, Wei-Xiong Cai, Li-Juan Shi, Lu Xiao, Ren-Rong Wu, Jing-Ping Zhao, Jian-Jun Ou
Aggressive behaviors of children with autism spectrum disorder (ASD) are common. We conducted this study to describe the aggressive mode of preschool children with ASD and examine the associations between specific aggressive behaviors and two treatable factors: sleep problems and attention deficit hyperactivity disorder (ADHD) symptoms. In total, 577 typically developing (TD) children and 490 children with ASD were investigated in this study. The Institute for Basic Research - Modified Overt Aggression Scale (IBR-MOAS) was used to assess aggressive behaviors...
March 7, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28266790/short-report-symptom-overlap-on-the-srs-2-adult-self-report-between-adults-with-asd-and-adults-with-high-anxiety
#14
Mikle South, AnnaLisa W Carr, Kevin G Stephenson, Max E Maisel, Jonathan C Cox
Many people diagnosed with autism spectrum disorder (ASD) also experience significant symptoms of anxiety, while many people with anxiety disorders likewise experience social difficulties. These concerns can be difficult to tease apart in general clinical settings. The Social Responsiveness Scale (SRS) is one of the most frequently used measures of dimensional ASD symptoms. In order to investigate the overlap of autism and anxiety on the SRS, we compared three groups of adults (an ASD group, n = 40; a high anxious group, n = 56; and a typical comparison group, n = 29) using the new Adult Self Report version of the SRS-2nd Edition (SRS-2-ASR) alongside a battery of anxiety questionnaires...
March 7, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28265323/bladder-and-bowel-dysfunction-in-children-an-update-on-the-diagnosis-and-treatment-of-a-common-but-underdiagnosed-pediatric-problem
#15
REVIEW
Joana Dos Santos, Roberto I Lopes, Martin A Koyle
Bladder and bowel dysfunction (BBD) describes a spectrum of lower urinary symptoms (LUTS) accompanied by fecal elimination issues that manifest primarily by constipation and/or encopresis. This increasingly common entity is a potential cause of significant physical and psychosocial burden for children and families. BBD is commonly associated with vesicoureteral reflux (VUR) and recurrent urinary tract infections (UTIs), which at its extreme may lead to renal scarring and kidney failure. Additionally, BBD is frequently seen in children diagnosed with behavioural and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD)...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#16
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28256695/-attention-deficit-hyperactivity-disorder-from-a-neurodevelopmental-perspective
#17
A Fernandez-Jaen, S Lopez-Martin, J Albert, D Martin Fernandez-Mayoralas, A L Fernandez-Perrone, B Calleja-Perez, S Lopez-Arribas
INTRODUCTION: Neurodevelopmental disorders cover a heterogeneous group of disorders such as intellectual disability, autism spectrum disorders or specific learning difficulties, among others. The neurobiological and clinical variables seem to clearly justify the recent inclusion of attention deficit hyperactivity disorder (ADHD) as a neurodevelopmental disorder in the international classifications. DEVELOPMENT: Neurodevelopmental disorders are characterised by their dimensional nature and the distribution of the different symptoms in the population...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28256376/-autism-an-early-neurodevelopmental-disorder
#18
F Bonnet-Brilhault
With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i...
April 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28256072/perceived-social-support-in-adults-with-autism-spectrum-disorder-and-attention-deficit-hyperactivity-disorder
#19
Sonia Alvarez-Fernandez, Hallie R Brown, Yihong Zhao, Jessica A Raithel, Somer L Bishop, Sarah B Kern, Catherine Lord, Eva Petkova, Adriana Di Martino
Perceived social support (PSS) has been related to physical and mental well-being in typically developing individuals, but systematic characterizations of PSS in autism spectrum disorder (ASD) are limited. We compared self-report ratings of the multidimensional scale of PSS (MSPSS) among age- and IQ-matched groups of adults (18-58 years) with cognitively high-functioning ASD (N = 41), or attention-deficit/hyperactivity disorder (ADHD; N = 69), and neurotypical controls (NC; N = 69). Accompanying group comparisons, we used machine learning random forest (RF) analyses to explore predictors among a range of psychopathological and socio-emotional variables...
March 3, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28255761/a-causal-and-mediation-analysis-of-the-comorbidity-between-attention-deficit-hyperactivity-disorder-adhd-and-autism-spectrum-disorder-asd
#20
Elena Sokolova, Anoek M Oerlemans, Nanda N Rommelse, Perry Groot, Catharina A Hartman, Jeffrey C Glennon, Tom Claassen, Tom Heskes, Jan K Buitelaar
Autism spectrum disorder (ASD) and Attention-deficit/hyperactivity disorder (ADHD) are often comorbid. The purpose of this study is to explore the relationships between ASD and ADHD symptoms by applying causal modeling. We used a large phenotypic data set of 417 children with ASD and/or ADHD, 562 affected and unaffected siblings, and 414 controls, to infer a structural equation model using a causal discovery algorithm. Three distinct pathways between ASD and ADHD were identified: (1) from impulsivity to difficulties with understanding social information, (2) from hyperactivity to stereotypic, repetitive behavior, (3) a pairwise pathway between inattention, difficulties with understanding social information, and verbal IQ...
March 2, 2017: Journal of Autism and Developmental Disorders
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