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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#2
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29147839/screening-accuracy-of-the-brief-infant-toddler-social-emotional-assessment-to-identify-autism-spectrum-disorder-in-toddlers-born-at-less-than-30%C3%A2-weeks-gestation
#3
Kelly M Boone, Anne K Brown, Sarah A Keim
Despite the higher prevalence of autism spectrum disorder (ASD) in children born preterm, valid screening tools for use in preterm populations are lacking. We aimed to evaluate the screening accuracy of the Brief Infant Toddler Social-Emotional Assessment (BITSEA) and to compare it to the Pervasive Developmental Disorders Screening Test-II, Stage 2, Developmental Clinic Screener (PDDST-II-DCS) in identifying ASD diagnosis in toddlers born at < 30 weeks' gestation. Caregivers (94% mothers) of 555 children completed questionnaires (BITSEA, PDDST-II-DCS, socio-demographics) when the children (58% male) were 18-36 months...
November 17, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/29145754/cortical-and-subcortical-brain-morphometry-differences-between-patients-with-autism-spectrum-disorder-and-healthy-individuals-across-the-lifespan-results-from-the-enigma-asd-working-group
#4
Daan van Rooij, Evdokia Anagnostou, Celso Arango, Guillaume Auzias, Marlene Behrmann, Geraldo F Busatto, Sara Calderoni, Eileen Daly, Christine Deruelle, Adriana Di Martino, Ilan Dinstein, Fabio Luis Souza Duran, Sarah Durston, Christine Ecker, Damien Fair, Jennifer Fedor, Jackie Fitzgerald, Christine M Freitag, Louise Gallagher, Ilaria Gori, Shlomi Haar, Liesbeth Hoekstra, Neda Jahanshad, Maria Jalbrzikowski, Joost Janssen, Jason Lerch, Beatriz Luna, Mauricio Moller Martinho, Jane McGrath, Filippo Muratori, Clodagh M Murphy, Declan G M Murphy, Kirsten O'Hearn, Bob Oranje, Mara Parellada, Alessandra Retico, Pedro Rossa, Katya Rubia, Devon Shook, Margot Taylor, Paul M Thompson, Michela Tosetti, Gregory L Wallace, Fengfeng Zhou, Jan K Buitelaar
OBJECTIVE: Neuroimaging studies show structural differences in both cortical and subcortical brain regions in children and adults with autism spectrum disorder (ASD) compared with healthy subjects. Findings are inconsistent, however, and it is unclear how differences develop across the lifespan. The authors investigated brain morphometry differences between individuals with ASD and healthy subjects, cross-sectionally across the lifespan, in a large multinational sample from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) ASD working group...
November 17, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29145013/parenting-and-family-adjustment-scales-pafas-validation-of-a-brief-parent-report-measure-for-use-with-families-who-have-a-child-with-a-developmental-disability
#5
Trevor G Mazzucchelli, Julie Hodges, Robert T Kane, Kate Sofronoff, Matthew R Sanders, Stewart Einfeld, Bruce Tonge, Kylie M Gray
BACKGROUND: Children with a developmental disability are three to four times more likely than their typically developing peers of developing significant emotional and behavioural problems. There is strong evidence to suggest that individual biological and psychological factors interact with family functioning to precipitate and perpetuate these problems. AIMS: This study examined the psychometric properties of a brief measure, the Parent and Family Adjustment Scales (PAFAS) for use with parents of children with a developmental disability...
November 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29143542/structure-longitudinal-invariance-and-stability-of-the-child-behavior-checklist-1%C3%A2-5-s-diagnostic-and-statistical-manual-of-mental-disorders-autism-spectrum-disorder-scale-findings-from-generation-r-rotterdam
#6
Leslie A Rescorla, Akhgar Ghassabian, Masha Y Ivanova, Vincent Wv Jaddoe, Frank C Verhulst, Henning Tiemeier
Although the Child Behavior Checklist 1½-5's 12-item Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale (formerly called Pervasive Developmental Problems scale) has been used in several studies as an autism spectrum disorder screener, the base rate and stability of its items and its measurement model have not been previously studied. We therefore examined the structure, longitudinal invariance, and stability of the Child Behavior Checklist 1½-5's Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale in the diverse Generation R (Rotterdam) sample based on mothers' ratings at 18 months ( n = 4695), 3 years ( n = 4571), and 5 years ( n = 5752)...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#7
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29138391/maternal-impulse-control-disability-and-developmental-disorder-traits-are-risk-factors-for-child-maltreatment
#8
Yoshiyuki Tachibana, Kenji Takehara, Naoko Kakee, Masashi Mikami, Eisuke Inoue, Rintaro Mori, Erika Ota, Tomoe Koizumi, Makiko Okuyama, Takahiko Kubo
Previous work has suggested that maternal developmental disorder traits related to autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are significantly associated with child maltreatment. However, there may be other important maternal characteristics that contribute to child maltreatment. We hypothesized that maternal impulse control disability may also affect child maltreatment in addition to maternal developmental disorder traits. We aimed to test this hypothesis via a cohort study performed in Tokyo (n = 1,260)...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29134693/microglia-from-offspring-of-dams-with-allergic-asthma-exhibit-epigenomic-alterations-in-genes-dysregulated-in-autism
#9
Annie Vogel Ciernia, Milo Careaga, Janine M LaSalle, Paul Ashwood
Dysregulation in immune responses during pregnancy increases the risk of a having a child with an autism spectrum disorder (ASD). Asthma is one of the most common chronic diseases among pregnant women, and symptoms often worsen during pregnancy. We recently developed a mouse model of maternal allergic asthma (MAA) that induces changes in sociability, repetitive, and perseverative behaviors in the offspring. Since epigenetic changes help a static genome adapt to the maternal environment, activation of the immune system may epigenetically alter fetal microglia, the brain's resident immune cells...
November 14, 2017: Glia
https://www.readbyqxmd.com/read/29128349/a-strategic-plan-to-identify-key-neurophysiological-mechanisms-and-brain-circuits-in-autism
#10
REVIEW
Frédérique Bonnet-Brilhault, Joëlle Malvy, Laurie Tuller, Philippe Prévost, Rasha Zebib, Sandrine Ferré, Christophe Dos Santos, Sylvie Roux, Emmanuelle Houy-Durand, Rémy Magné, Yassine Mofid, Marianne Latinus, Claire Wardak, Nadia Aguillon-Hernandez, Magali Batty, Marie Gomot
Autism and Autism Spectrum Disorder (ASD) cover a large variety of clinical profiles which share two main dimensions: social and communication impairment and repetitive behaviors or restricted interests, which are present during childhood. There is now no doubt that genetic factors are a major component in the etiology of autism but precise physiopathological pathways are still being investigated. Furthermore, developmental trajectories combined with compensatory mechanisms will lead to various clinical and neurophysiological profiles which together constitute this Autism Spectrum Disorder...
November 8, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/29126368/associations-between-cooperation-reactive-aggression-and-social-impairments-among-boys-with-autism-spectrum-disorder
#11
Miia Kaartinen, Kaija Puura, Päivi Pispa, Mika Helminen, Raili Salmelin, Erja Pelkonen, Petri Juujärvi, Esther B Kessler, David H Skuse
Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder-related social impairments. The participants performed a modified version of the Prisoner's Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29126347/language-profiles-in-young-children-with-autism-spectrum-disorder-a-community-sample-using-multiple-assessment-instruments
#12
Rose Nevill, Darren Hedley, Mirko Uljarević, Ensu Sahin, Johanna Zadek, Eric Butter, James A Mulick
This study investigated language profiles in a community-based sample of 104 children aged 1-3 years who had been diagnosed with autism spectrum disorder using Diagnostic and Statistical Manual of Mental Disorders (5th ed.) diagnostic criteria. Language was assessed with the Mullen scales, Preschool Language Scale, fifth edition, and Vineland-II parent-report. The study aimed to determine whether the receptive-to-expressive language profile is independent from the assessment instrument used, and whether nonverbal cognition, early communicative behaviors, and autism spectrum disorder symptoms predict language scores...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29119672/self-compassion-and-psychological-distress-in-parents-of-young-people-and-adults-with-intellectual-and-developmental-disabilities
#13
Suzanne Robinson, Richard P Hastings, Jonathan A Weiss, Jaffni Pagavathsing, Yona Lunsky
BACKGROUND: Parenting an individual with intellectual and developmental disabilities (IDD) can be challenging, particularly during adulthood. It is important to better understand ways of supporting families as individuals with IDD age. Self-compassion is a potential internal coping resource for parents, and is strongly linked to positive mental health outcomes, though research has yet to examine it in parents of adults with IDD. METHOD: The current study examines the association between self-compassion and measures of well-being for 56 parents of adults with IDD...
November 9, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29104681/association-between-beta-sympathomimetic-tocolysis-and-risk-of-autistic-spectrum-disorders-behavioural-and-developmental-outcome-in-toddlers
#14
Mengühan Araz Altay, Işık Görker, Rakhshanda Aslanova, Leyla Bozatlı, Nesrin Turan, Petek Balkanlı Kaplan
AIM: To investigate whether maternal intravenous beta-mimetic tocolytic therapy increases the risk of autistic spectrum disorders (ASD) and poorer behavioural and developmental outcomes. METHOD: Our study is a prospective case-control study among 90 children between 1.5 and three years old. Cases (n = 46) were toddlers with betamimetic tocolytic exposure; control group toddlers (n = 44) were tocolytic untreated. Treated and untreated groups were also divided into subgroups: term and preterm delivered...
October 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29104007/perinatal-exposure-to-concentrated-ambient-particulates-results-in-autism-like-behavioral-deficits-in-adult-mice
#15
Jamie S Church, Pamella B Tijerina, Felicity J Emerson, Morgan A Coburn, Jason L Blum, Judith T Zelikoff, Jared J Schwartzer
Exposure to fine ambient particulates (PM2.5) during gestation or neonatally has potent neurotoxic effects. While biological and behavioral data indicate a vulnerability to environmental pollutants across distinct neurodevelopmental windows, the behavioral consequences following exposure across the entire developmental period remain unknown. Moreover, several epidemiological studies support a link between developmental exposure to air pollution and an increased risk of later receiving a diagnosis of autism spectrum disorders (ASD), a neurodevelopmental disorder that persists throughout life...
November 2, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#16
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
November 3, 2017: Pediatrics
https://www.readbyqxmd.com/read/29100628/developmental-changes-within-the-genetic-architecture-of-social-communication-behavior-a-multivariate-study-of-genetic-variance-in-unrelated-individuals
#17
Beate St Pourcain, Lindon J Eaves, Susan M Ring, Simon E Fisher, Sarah Medland, David M Evans, George Davey Smith
BACKGROUND: Recent analyses of trait-disorder overlap suggest that psychiatric dimensions may relate to distinct sets of genes that exert maximum influence during different periods of development. This includes analyses of social communication difficulties that share, depending on their developmental stage, stronger genetic links with either autism spectrum disorder or schizophrenia. We developed a multivariate analysis framework in unrelated individuals to model directly the developmental profile of genetic influences contributing to complex traits, such as social communication difficulties, during an approximately 10-year period spanning childhood and adolescence...
September 28, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29100626/heritable-variation-with-little-or-no-maternal-effect-accounts-for-recurrence-risk-to-autism-spectrum-disorder-in-sweden
#18
Benjamin Hon Kei Yip, Dan Bai, Behrang Mahjani, Lambertus Klei, Yudi Pawitan, Christina M Hultman, Dorothy E Grice, Kathryn Roeder, Joseph D Buxbaum, Bernie Devlin, Abraham Reichenberg, Sven Sandin
BACKGROUND: Autism spectrum disorder (ASD) has both genetic and environmental origins, including potentially maternal effects. Maternal effects describe association of one or more maternal phenotypes with liability to ASD in progeny that are independent of maternally transmitted risk alleles. While maternal effects could play an important role, consistent with association to maternal traits such as immune status, no study has estimated maternal, additive genetic, and environmental effects in ASD...
September 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29100475/race-influences-parent-report-of-concerns-about-symptoms-of-autism-spectrum-disorder
#19
Meghan Rose Donohue, Amber W Childs, Megan Richards, Diana L Robins
Racial differences in parent report of concerns about their child's development to healthcare providers may contribute to delayed autism spectrum disorder diagnoses in Black children. We tested the hypotheses that compared to White parents, Black parents of children with autism spectrum disorder would report fewer concerns about autism symptoms and would be more likely to report concerns about disruptive behaviors. A sample of 18- to 40-month-old toddlers ( N = 174) with autism spectrum disorder and their parent participated...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29096641/acute-in-utero-exposure-to-lipopolysaccharide-induces-inflammation-in-the-pre-and-postnatal-brain-and-alters-the-glial-cytoarchitecture-in-the-developing-amygdala
#20
Elaine O'Loughlin, Janelle M P Pakan, Deniz Yilmazer-Hanke, Kieran W McDermott
BACKGROUND: Maternal immune activation (MIA) is a risk factor for neurodevelopmental disorders such as autism and schizophrenia, as well as seizure development. The amygdala is a brain region involved in the regulation of emotions, and amygdalar maldevelopment due to infection-induced MIA may lead to amygdala-related disorders. MIA priming of glial cells during development has been linked to abnormalities seen in later life; however, little is known about its effects on amygdalar biochemical and cytoarchitecture integrity...
November 2, 2017: Journal of Neuroinflammation
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