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https://www.readbyqxmd.com/read/28324901/pediatric-feeding-disorders-and-severe-developmental-disabilities
#1
Jane ORegan Kleinert
Children with severe developmental disabilities face numerous challenges to function and participate in activities of daily life. One of the most significant challenges to accomplishing this goal is that of oral feeding disorders. Indeed, it is estimated that among children with developmental disabilities, up to 80 to 90% present with some level of feeding disorders. In addition, it has been shown that as the level of severity of intellectual disability increases, so does the severity of the oral feeding disorders...
April 2017: Seminars in Speech and Language
https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#2
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28323454/interaction-behaviors-of-bilingual-parents-with-their-young-children-with-autism-spectrum-disorder
#3
Kristelle Hudry, Lisa Rumney, Nicole Pitt, Josephine Barbaro, Giacomo Vivanti
Given concerns that bilingual exposure might confuse children with disabilities-including autism spectrum disorder (ASD)-bilingual parents may restrict exposure to one language, often the community-dominant language. We investigated a potential consequence of this decision; the possibility that non-native language use might influence parental communicative behaviors during interaction with the child. We recruited 39 parent-child dyads, each with a young child with ASD (mostly boys) and parent/carer (mostly mothers)...
March 21, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28319814/time-specific-and-cumulative-effects-of-exposure-to-parental-externalizing-behavior-on-risk-for-young-adult-alcohol-use-disorder
#4
Alexis C Edwards, Sara L Lönn, Katherine J Karriker-Jaffe, Jan Sundquist, Kenneth S Kendler, Kristina Sundquist
BACKGROUND: Previous studies indicate that parental externalizing behavior (EB) is a robust risk factor for alcohol use disorder (AUD) in their children, and that this is due to both inherited genetic liability and environmental exposure. However, it remains unclear whether the effects of exposure to parental EB vary as a function of timing and/or chronicity. METHODS: We identified biological parents with an alcohol use disorder, drug abuse, or criminal behavior, during different periods of their child's upbringing, using Swedish national registries...
March 8, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28319202/evolving-notch-polyq-tracts-reveal-possible-solenoid-interference-elements
#5
Albert J Erives
Polyglutamine (polyQ) tracts in regulatory proteins are extremely polymorphic. As functional elements under selection for length, triplet repeats are prone to DNA replication slippage and indel mutations. Many polyQ tracts are also embedded within intrinsically disordered domains, which are less constrained, fast evolving, and difficult to characterize. To identify structural principles underlying polyQ tracts in disordered regulatory domains, here I analyze deep evolution of metazoan Notch polyQ tracts, which can generate alleles causing developmental and neurogenic defects...
2017: PloS One
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#6
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28318468/understanding-adolescent-personality-pathology-from-growth-trajectories-of-childhood-oddity
#7
Barbara De Clercq, Lize Verbeke, Elien De Caluwé, Tom Vercruysse, Joeri Hofmans
Research on developmental trajectories of early maladaptive features for understanding later personality disorders (PDs) is increasingly recognized as an important study area. The course of early odd features is highly relevant in this regard, as only a few researchers have addressed childhood oddity in the context of emerging PDs. Using latent growth modeling, the current study explores growth parameters of odd features in a mixed sample of Flemish community and referred children (N = 485) across three measurement waves with 1-year time intervals...
March 20, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28318454/infant-stranger-fear-trajectories-predict-anxious-behaviors-and-diurnal-cortisol-rhythm-during-childhood
#8
Carol A Van Hulle, Mollie N Moore, Kathryn Lemery-Chalfant, H Hill Goldsmith, Rebecca J Brooker
Although a robust literature has linked stable, high levels of fear across childhood to increased risk for anxiety problems, less is known about alternative pathways to anxiety. We tested two putatively normative developmental pathways of early fearfulness for their distinct associations with behavioral (anxiety-related behaviors and symptoms) and biological (diurnal cortisol) markers of anxiety risk in middle childhood in a community-based sample (n = 107). Steeper increases in fear from 6 to 36 months predicted more parent-reported anxiety symptoms at age 8 years...
March 20, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28318338/latent-class-profiles-of-anxiety-symptom-trajectories-from-preschool-through-school-age
#9
Sarah J Kertz, Chad Sylvester, Rebecca Tillman, Joan L Luby
Anxiety typically arises early in childhood and decreases during school age. However, little is known about the earlier developmental course of anxiety in preschool, especially in at risk children, posing a clinically important problem. Given that anxiety in youth has a chronic course for some and also predicts later development of other mental health problems, it is important to identify factors early in development that may predict chronic anxiety symptoms. At-risk children (oversampled for depression) and caregivers completed 6 assessment waves beginning at preschool age (between 3-5...
March 20, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28318282/altered-resting-state-eeg-complexity-in-children-with-tourette-syndrome-a-preliminary-study
#10
Wen-Chin Weng, Chi-Feng Chang, Lee Chin Wong, Jui-Hsiang Lin, Wang-Tso Lee, Jiann-Shing Shieh
OBJECTIVE: Tourette syndrome is a developmental neuropsychiatric disorder in children, and abnormal corticobasal ganglion connectivity is implied for the pathophysiology. Multiscale entropy, an entropy-based method to measure dynamic complexity at multiple temporal scales, is helpful to disclose the information of brain connectivity. This preliminary study investigated the complexity of resting-state electroencephalogram signals using multiscale entropy in children with Tourette syndrome...
March 20, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#11
Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#12
S E Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β-cell physiology. We sequenced the exome of a child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents...
March 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28317218/rodent-models-of-genetic-and-chromosomal-variations-in-psychiatric-disorders
#13
Jun Nomura, Geetha Kannan, Toru Takumi
Elucidating the molecular basis of complex human psychiatric disorders is challenging due to the multitude of factors that underpin these disorders. Genetic and chromosomal changes are two factors that have been suggested to be involved in psychiatric disorders. Indeed, numerous risk loci have been identified in autism spectrum disorders (ASD), schizophrenia, and related psychiatric disorders. Here, we introduce genetic animal models that disturb excitatory-inhibitory (E/I) balance in the brain and animal models mirroring human chromosomal abnormalities, both of which may be implicated in ASD pathophysiology...
March 20, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28317212/binge-drinking-and-family-history-of-alcoholism-are-associated-with-an-altered-developmental-trajectory-of-impulsive-choice-across-adolescence
#14
Scott A Jones, Joel S Steele, Bonnie J Nagel
AIMS: To test whether binge drinking, the density of familial alcoholism (FHD), and their interaction are associated with an altered developmental trajectory of impulsive choice across adolescence, and whether more lifetime drinks is associated with a greater change in impulsive choice across age. DESIGN: Alcohol-naïve adolescents, with varying degrees of FHD, were recruited as part of an ongoing longitudinal study on adolescent development, and were grouped based on whether they remained non-drinkers (n = 83) or initiated binge drinking (n = 33) during follow-up...
March 20, 2017: Addiction
https://www.readbyqxmd.com/read/28317113/temperamental-markers-in-toddlers-with-autism-spectrum-disorder
#15
Suzanne L Macari, Judah Koller, Daniel J Campbell, Katarzyna Chawarska
BACKGROUND: Although temperament has been recognized as an important contributor to childhood psychopathology, its role in emergent autism spectrum phenotypes is not well understood. This study examined whether toddlers with autism spectrum disorder (ASD) display temperamental vulnerabilities compared to toddlers with other developmental challenges, whether these characteristics are distinct from core autism symptoms, if they are stable over time, and if they contribute to social outcomes in preschool...
March 20, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28317068/predicting-adhd-symptoms-in-adolescence-from-early-childhood-temperament-traits
#16
Tzlil Einziger, Linoy Levi, Yael Zilberman-Hayun, Judith G Auerbach, Naama Atzaba-Poria, Shoshana Arbelle, Andrea Berger
Extreme levels of certain temperament traits can be early markers of different developmental pathways of attention-deficit/hyperactivity disorder (ADHD). However, the long-term utility of using these traits as predictors of ADHD is not fully known. This study includes 64 male adolescents (M age = 13.5), who have been followed since birth as part of a longitudinal study. The primary aim was to test effortful control (EC), activity level, and anger, measured in early childhood - both with mother's reports and laboratory assessments -as predictors of ADHD symptoms in adolescence...
March 20, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28315272/sigma-receptors-and-substance-use-disorders
#17
Valentina Sabino, Callum Hicks, Pietro Cottone
Thanks to advances in neuroscience, addiction is now recognized as a chronic brain disease with genetic, developmental, and cultural components. Drugs of abuse, including alcohol, are able to produce significant neuroplastic changes responsible for the profound disturbances shown by drug addicted individuals. The current lack of efficacious pharmacological treatments for substance use disorders has encouraged the search for novel and more effective pharmacotherapies. Growing evidence strongly suggests that Sigma Receptors are involved in the addictive and neurotoxic properties of abused drugs, including cocaine , methamphetamine , and alcohol...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28314447/developmental-psychopathology-risk-and-resilience-in-the-transition-to-young-adulthood
#18
REVIEW
Patricia K Leebens, Edwin D Williamson
The transition from adolescence to young adulthood is a challenging time for many young people, given the multiple simultaneous demands placed by biological, psychological, and social forces that affect an individual's development. There are additional challenges when one is coping with ongoing or evolving mental health disorders. This article focuses on the demographics of transitional age youth, ages 16 to 26 years, in the United States, the unique characteristics of this developmental period, and how risk and resilience factors may affect the course of development and an individual's pathway to adulthood...
April 2017: Child and Adolescent Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/28314228/untreated-perinatal-paternal-depression-effects-on-offspring
#19
REVIEW
Salvatore Gentile, Maria Luigia Fusco
Transition to parenthood represents an important life event which increases vulnerability to psychological disorders. Aim of this article is to analyze all studies which investigated the effects of untreated perinatal paternal depression in offspring. We searched pertinent, peer-reviewed articles published in English (January 1980 to April 2016) on MEDLINE, PsycINFO, and Science.gov. Twenty-three studies met the inclusion criteria. Most of the reviewed studies suffer from methodological limitations, including the small sample, the lack of a structured psychiatric diagnosis, and inclusion bias...
March 2, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28302394/the-relationship-between-level-of-cognitive-impairments-and-functional-outcome-trajectories-in-first-episode-schizophrenia
#20
Susie Fu, Nikolai Czajkowski, Bjørn Rishovd Rund, Anne-Kari Torgalsbøen
Although cognitive impairments are consistently linked to functional outcome in chronic schizophrenia, the relationship remains unclear for patients with first-episode schizophrenia. The objective of this present study was to determine whether there are distinct developmental trajectories for functional outcome in patients with different levels of baseline cognition. The present study has a multi-follow-up design, and includes data from six follow-ups over four years. Assessments were conducted yearly, apart from the first year where assessments were conducted every six months...
March 14, 2017: Schizophrenia Research
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