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developmental disorder

Abdullah Turhan, Simone Onrust, Peter Ten Klooster, Marcel Pieterse
AIMS: To test effectiveness of the Healthy School and Drugs (HSD) program on tobacco and alcohol use in Dutch secondary special education (SE) schools, and whether this depends on subtypes of SE-schools and the level of implementation. DESIGN: In a quasi-experimental design with baseline and post-treatment follow-up 35 classes (N = 363) were allocated arbitrarily or depending on teacher motivation to either intervention condition (N = 205) or usual curriculum (N = 158)...
October 21, 2016: Addiction
Marijn Bart Martens, Monica Frega, Jessica Classen, Lisa Epping, Elske Bijvank, Marco Benevento, Hans van Bokhoven, Paul Tiesinga, Dirk Schubert, Nael Nadif Kasri
Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a neurodevelopmental disorder that is characterized by autistic-like features and severe intellectual disability (ID). Neurodevelopmental disorders including ID and autism may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks...
October 21, 2016: Scientific Reports
K Malkiewicz, E Malkiewicz, K A Eaton, E Widström
Poland is one of the largest European countries in terms of area and population. The country's economic situation does not allow for the allocation of sufficient public funds for healthcare in general and oral healthcare in particular. The health policy of the state focuses primarily on prophylaxis and treatment of diseases, directly threatening the health and lives of the inhabitants. Currently, expenditure on oral health accounts for only 2.7% of the public funds allocated to healthcare. In this context, providing oral care financed from public funds at an appropriate level constitutes a challenge for state institutions, centres providing medical and dental services and private practices...
October 21, 2016: British Dental Journal
Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M Alazami, Woodring E Wright, M Stephen Meyn, Fowzan S Alkuraya, Jerry W Shay
BACKGROUND: Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. METHODS: Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7)...
October 17, 2016: BMC Genomics
Ola Ozernov-Palchik, Xi Yu, Yingying Wang, Nadine Gaab
Dyslexia is a heritable reading disorder with an estimated prevalence of 5-17%. A multiple deficit model has been proposed that illustrates dyslexia as an outcome of multiple risks and protective factors interacting at the genetic, neural, cognitive, and environmental levels. Here we review the evidence on each of these levels and discuss possible underlying mechanisms and their reciprocal interactions along a developmental timeline. Current and potential implications of neuroscientific findings for contemporary challenges in the field of dyslexia, as well as for reading development and education in general, are then discussed...
August 2016: Current Opinion in Behavioral Sciences
Jillian Iafrati, Arnaud Malvache, Cecilia Gonzalez Campo, M Juliana Orejarena, Olivier Lassalle, Lamine Bouamrane, Pascale Chavis
The postnatal maturation of the prefrontal cortex (PFC) represents a period of increased vulnerability to risk factors and emergence of neuropsychiatric disorders. To disambiguate the pathophysiological mechanisms contributing to these disorders, we revisited the endophenotype approach from a developmental viewpoint. The extracellular matrix protein reelin which contributes to cellular and network plasticity, is a risk factor for several psychiatric diseases. We mapped the aggregate effect of the RELN risk allele on postnatal development of PFC functions by cross-sectional synaptic and behavioral analysis of reelin-haploinsufficient mice...
October 21, 2016: Scientific Reports
Marianne Ronovsky, Stefanie Berger, Alice Zambon, Sonali N Reisinger, Orsolya Horvath, Arnold Pollak, Claudia Lindtner, Angelika Berger, Daniela D Pollak
Gestational infection is increasingly being recognized for its involvement as causative mechanism in severe developmental brain abnormalities and its contribution to the pathogenesis of psychopathologies later in life. First observations in the widely accepted maternal immune activation (MIA) model based upon the systemic administration of the viral mimetic Polyinosinic:polycytidylic acid (poly(I:C)) have recently suggested a transmission of behavioral and transcriptional traits across generations. Although maternal care behavior (MCB) is known as essential mediator of the transgenerational effects of environmental challenges on offspring brain function and behavior, the possible propagation of alterations of MCB resulting from MIA to following generations has not yet been examined...
October 17, 2016: Brain, Behavior, and Immunity
Julio Fernandez-Mendoza
PURPOSE OF REVIEW: It was first proposed in the late 1990s that objective markers of sleep disturbance could serve as an index of the biological severity of insomnia. In 2013, a heuristic model of two insomnia phenotypes based on objective sleep duration was proposed. Herein, we review the studies conducted in the past 3 years on the insomnia with short sleep duration phenotype and its implications for a clinical research agenda. RECENT FINDINGS: Studies have shown that insomnia with objective short sleep duration is associated with physiologic hyperarousal and cardiometabolic and neurocognitive morbidity, whereas insomnia with normal sleep duration is not...
October 18, 2016: Current Opinion in Psychiatry
Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Matthew R Plunk, Dolphine Oda, Shawn E Parnell, Jason N Wright, Bonnie L Cole, Ramesh S Iyer
OBJECTIVE: Lucent lesions of the pediatric mandible may present variably. Cysts, neoplasms, and developmental and inflammatory conditions have a host of possible causes. There is also substantial overlap in the imaging appearance of cysts and that of benign but locally aggressive tumors that need to undergo resection. CONCLUSION: The purpose of this article is to present common and uncommon lucent lesions of the mandible in children, with an emphasis on benign abnormalities...
October 20, 2016: AJR. American Journal of Roentgenology
Colin Crist
Skeletal muscle is the most abundant tissue in our body, is responsible for generating the force required for movement and is also an important thermogenic organ. Skeletal muscle is an enigmatic tissue because, while on one hand, skeletal muscle regeneration after injury is arguably one of the best studied stem cell dependent regenerative processes, on the other hand, skeletal muscle is still subject to many degenerative disorders with few therapeutic options in the clinic. It is important to develop new regenerative medicine based therapies for skeletal muscle...
October 20, 2016: Journal of Pathology
Christine N El Ouardani
Based on 9 months of ethnographic fieldwork in a U.S. mental health clinic focused on the treatment of preschool-aged children who exhibited extremely disruptive behavior, this article examines the contradictions clinicians faced when trying to identify and attribute "intentionality" to very young children. Disruptive, aggressive behavior is one of the central symptoms involved in a wide-range of childhood psychopathology and the number one reason young children are referred to mental health clinics in the United States...
October 19, 2016: Culture, Medicine and Psychiatry
Matthew T Whitehead, Guy Helman, Andrea L Gropman
Xp21.2 duplication syndrome is a rare genetic disorder of undetermined prevalence and clinical relevance. As the use of chromosomal microarray has become first line for the work-up of childhood developmental delay, more gene deletions and duplications have been recognized. To the best of our knowledge, the imaging findings of Xp21.2 duplication syndrome have not been reported. We report a case of a 33 month-old male referred for developmental delay that was found to have an Xp21.2 duplication containing IL1RAPL1 and multiple midline brain malformations...
May 2016: Journal of Radiology Case Reports
John Cairney, Scott Veldhuizen, Sara King-Dowling, Brent E Faught, John Hay
OBJECTIVES: Previous research has shown children with Developmental Coordination Disorder (DCD) have lower cardiorespiratory fitness (CRF) than typically developing (TD) children. This has been hypothesized to be due to an activity deficit, whereby poor motor functioning discourages children from participating in physical activities, but this hypothesis has not been directly tested. In this study, we use longitudinal data to measure the extent to which physical activity explains differences in CRF between children with and without motor coordination deficits...
September 29, 2016: Journal of Science and Medicine in Sport
Joanna Granich, Alena Dass, Margherita Busacca, Dennis Moore, Angelika Anderson, Svetha Venkatesh, Thi Duong, Pratibha Vellanki, Amanda Richdale, David Trembath, Darin Cairns, Wendy Marshall, Tania Rodwell, Madeleine Rayner, Andrew J O Whitehouse
BACKGROUND: Evidence for early intensive behavioural interventions (EIBI) by therapists as an effective treatment for children with an Autism Spectrum Disorder (ASD) is growing. High-intensity and sustained delivery of quality EIBI is expensive. The TOBY (Therapy Outcomes by You) Playpad is an App-based platform delivering EIBI to facilitate learning for young children with ASD, while enabling parents to become co-therapists. Intervention targets include increasing joint attention, imitation and communication of children with ASD...
October 19, 2016: BMC Pediatrics
Julie Reygner, Lydia Lichtenberger, Ghada Elmhiri, Samir Dou, Narges Bahi-Jaber, Larbi Rhazi, Flore Depeint, Veronique Bach, Hafida Khorsi-Cauet, Latifa Abdennebi-Najar
Increasing evidence indicates that chlorpyrifos (CPF), an organophosphorus insecticide, is involved in metabolic disorders. We assess the hypothesis whether supplementation with prebiotics from gestation to adulthood, through a modulation of microbiota composition and fermentative activity, alleviates CPF induced metabolic disorders of 60 days old offspring. 5 groups of Wistar rats, from gestation until weaning, received two doses of CPF pesticide: 1 mg/kg/day (CPF1) or 3.5 mg/kg/day (CPF3.5) with free access to inulin (10g/L in drinking water)...
2016: PloS One
Mikhail Kissine, Elise Clin, Jessica de Villiers
Autism spectrum disorder (ASD) is characterized by primary pragmatic difficulties, out of step with verbal and non-verbal developmental level. This selective survey paper addresses three recent domains of research on pragmatic functions in autism. First, we provide an up-to-date discussion of how lack of sensitivity to social cues impacts early acquisition of words. Second, we review recent findings on the comprehension of non-literal language, pointing to a more refined clinical reality. Third, we describe recent developments in the study of conversation skills in autism...
October 2016: Médecine Sciences: M/S
Mark O'Driscoll
Accurate and efficient replication of the human genome occurs in the context of an array of constitutional barriers including regional topological constraints imposed by chromatin architecture and processes such as transcription, catenation of the helical polymer and spontaneously generated DNA lesions including base modifications and strand breaks. DNA replication is fundamentally important for tissue development and homeostasis; differentiation programmes are intimately linked with stem cell division. Unsurprisingly, impairments of the DNA replication machinery can have catastrophic consequences for genome stability and cell division...
October 18, 2016: Journal of Pathology
John D Haltigan, Glenn I Roisman, Elizabeth Cauffman, Cathryn Booth-LaForce
In light of its associations with child and adolescent health and well-being, there remains a need to better understand the etiological underpinnings and developmental course of internalizing symptomatology in children and adolescents. This study leveraged intensive longitudinal data (N = 959; 49.6 % females) to test the hypothesis that internalizing symptoms in childhood may be driven more strongly by family experiences whereas internalizing symptoms in adolescence may derive more uniquely from familial loading for affective disorders (i...
October 18, 2016: Journal of Youth and Adolescence
Sungjin Im, Sang-Gu Lee, Jeonghwan Lee, Siekyeong Kim, Chul-Jin Shin, Jeong-Woo Son, Gawon Ju, Sang-Ick Lee
OBJECTIVE: The structural alteration of brain shown in patients with alcohol use disorder (AUD) can originate from both alcohol effects and genetic or developmental processes. We compared surface-based parameters of patients with AUD with healthy controls to prove the applicability of surface-based morphometry with head size correction and to determine the areas that were sensitive to brain alteration related to AUD. METHODS: Twenty-six abstinent male patients with AUD (alcohol group, mean abstinence=13...
September 2016: Psychiatry Investigation
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