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Developmental disorders

Emma Sumner, Samuel B Hutton, Gustav Kuhn, Elisabeth L Hill
Children with Developmental Coordination Disorder (DCD) fail to acquire adequate motor skill, yet surprisingly little is known about the oculomotor system in DCD. Successful completion of motor tasks is supported by accurate visual feedback. The purpose of this study was to determine whether any oculomotor differences can distinguish between children with and without a motor impairment. Using eye tracking technology, visual fixation, smooth pursuit, and pro- and anti-saccade performance were assessed in 77 children that formed three groups: children with DCD (aged 7-10), chronologically age (CA) matched peers, and a motor-match (MM) group (aged 4-7)...
October 17, 2016: Developmental Science
Joel Wells, Jeffrey J Nepple, Karla Crook, James R Ross, Asheesh Bedi, Perry Schoenecker, John C Clohisy
BACKGROUND: Hip dysplasia represents a spectrum of complex deformities on both sides of the joint. Although many studies have described the acetabular side of the deformity, to our knowledge, little is known about the three-dimensional (3-D) head and neck offset differences of the femora of dysplastic hips. A thorough knowledge of proximal femoral anatomy is important to prevent potential impingement and improve results after acetabular reorientation. QUESTIONS/PURPOSES: (1) Are there common proximal femoral characteristics in patients with symptomatic hip dysplasia undergoing periacetabular osteotomy (PAO)? (2) Where is the location of maximal femoral head and neck offset deformity in hip dysplasia? (3) Do certain subgroups of dysplastic hips more commonly have cam-type femoral morphology? (4) Is there a relationship between hip ROM as well as impingement testing and 3-D head and neck offset deformity? METHODS: Using our hip preservation database, 153 hips (148 patients) underwent PAO from October 2013 to July 2015...
October 17, 2016: Clinical Orthopaedics and related Research
Drew A Kingston, Franklyn J Graham, Raymond A Knight
Hypersexuality, or extreme normophilic sexual urges and behaviors, is a controversial construct that was recently considered as a candidate disorder for the DSM-5 and was rejected. It was also rejected for inclusion in Section III (Conditions for Further Study). Nonetheless, it has been found to be an important predictor of recidivism among sex offenders, and it continues to be discussed widely in the literature. In the present study, we investigated the developmental roots of this construct in a sample of 529 adult male sexual offenders, who were administered the Multidimensional Assessment of Sex and Aggression...
October 17, 2016: Archives of Sexual Behavior
Steve Majerus, Nelson Cowan
Verbal short-term memory (STM) impairment is one of the most consistent associated deficits observed in developmental reading disorders such as dyslexia. Few studies have addressed the nature of this STM impairment, especially as regards the ability to temporarily store serial order information. This question is important as studies in typically developing children have shown that serial order STM abilities are predictors of oral and written language development. Associated serial order STM deficits in dyslexia may therefore further increase the learning difficulties in these populations...
2016: Frontiers in Psychology
Anthony R Mawson, Nola T Radford, Binu Jacob
Stuttering affects about 1% of the general population and from 8 to 11% of children. The onset of persistent developmental stuttering (PDS) typically occurs between 2 and 4 years of age. The etiology of stuttering is unknown and a unifying hypothesis is lacking as of now. Clues to the pathogenesis of stuttering include the following observations: PDS is associated with adverse perinatal outcomes and birth-associated trauma; stuttering can recur or develop in adulthood following traumatic events such as brain injury and stroke; PDS is associated with structural and functional abnormalities in the brain associated with speech and language; and stuttering resolves spontaneously in a high percentage of affected children...
October 18, 2016: European Neurology
John G Conboy
The Rbfox genes encode an ancient family of sequence-specific RNA binding proteins (RBPs) that are critical developmental regulators in multiple tissues including skeletal muscle, cardiac muscle, and brain. The hallmark of Rbfox proteins is a single high-affinity RRM domain, highly conserved from insects to humans, that binds preferentially to UGCAUG motifs at diverse regulatory sites in pre-mRNA introns, mRNA 3'UTRs, and pre-miRNAs hairpin structures. Versatile regulatory circuits operate on Rbfox pre-mRNA and mRNA to ensure proper expression of Rbfox1 protein isoforms, which then act on the broader transcriptome to regulate alternative splicing networks, mRNA stability and translation, and microRNA processing...
October 17, 2016: Wiley Interdisciplinary Reviews. RNA
Kate Wilmut, Wenchong Du, Anna L Barnett
Passing through a narrow gap/aperture involves a perceptual judgement regarding the size of the gap and an action to pass through. Children with DCD are known to have difficulties with perceptual judgements in near space but whether this extends to far space is unknown. Furthermore, in a recent study it was found that adults with DCD do not scale movements when walking through an aperture in the same way as their peers. The current study, therefore, considered perceptual judgements and motor behaviour of children with DCD while looking at or walking through apertures...
October 16, 2016: Developmental Science
Ferhat Yaylaci, Suha Miral
Aim of this study was to compare children diagnosed with Pervasive Developmental Disorder (PDD) according to DSM-IV-TR and DSM-5 diagnostic systems. One hundred fifty children aged between 3 and 15 years diagnosed with PDD by DSM-IV-TR were included. PDD symptoms were reviewed through psychiatric assessment based on DSM-IV-TR and DSM-5 criteria. Clinical severity was determined using Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC). A statistically significant decrease (19.3 %) was detected in the diagnostic ratio with DSM-5...
October 17, 2016: Journal of Autism and Developmental Disorders
P Fourneret, H Desombre
INTRODUCTION: For a decade, the concept of irritability has known a renewed interest in infant and child psychopathology. Indeed, longitudinal follow-up studies clearly highlighted their predictive value - in the short, medium and long terms - of a broad field of behavioral disorders and emotion dysregulation. This dimensional and transnosographic approach of irritability, coupled with the latest neuroscience data, points out that irritability could be the equivalent of a psychopathological marker, covering both a neurobiological, cognitive and emotional component...
October 10, 2016: L'Encéphale
Odaro Huckstep, Adam J Lewandowski, Paul Leeson
Human clinical studies as well as laboratory animal studies demonstrate that offspring of pregnancies affected by common complications, such as preeclampsia and preterm birth, display developmental phenotypes that relate distinctly to the pregnancy disorder. Several studies have now found microvascular differences in offspring of hypertensive pregnancies, and there is interest in whether these may underlie epidemiologic associations between gestational hypertension and a higher risk of hypertension and stroke in the offspring...
October 15, 2016: American Journal of Epidemiology
Wanjie Tang, Jingdong Zhao, Yi Lu, Tingting Yan, Lijuan Wang, Jun Zhang, Jiuping Xu
OBJECTIVE: Millions of children were exposed to major earthquake in China, with serious psychological and developmental consequences. To obtain accurate rate of post-disaster related disorder and identify predictors may help inform post-disaster rescue and rehabilitation efforts. The present longitudinal study explored correlations of demographic and socioeconomic characteristics of juvenile survivors of the Ya'an and Wenchuan earthquakes in China with their trajectories of post-disaster related disorder...
September 13, 2016: Comprehensive Psychiatry
Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima, Noriyuki Akasaka, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement. Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy...
October 12, 2016: Brain & Development
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
Hongzheng Dai, Victor Wei Zhang, Ayman W El-Hattab, Can Ficicioglu, Marwan Shinawi, Matthew Lines, Andreas Schulze, Markey McNutt, Garret Gotway, Xia Tian, Stella Chen, Jing Wang, William J Craigen, Lee-Jun Wong
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early-onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in ten new subjects with a total of seven novel deleterious variants; five null and two missense substitutions...
October 15, 2016: Clinical Genetics
Ruken Yuksekkaya Celıkyay, Fatih Celikyay, Erkal Bilgic, Murat Ascı, Dogan Koseoglu
Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder characterized by osteocartilaginous overgrowth in one or more epiphyses. The disease usually involves a single limb or is hemimelic (lateral or medial compartment), and lower extremities are more frequently affected than upper extremities. Here we present clinical and radiological findings for a male DEH patient at 1.5 and 3.5 years of age. The radiographs obtained at first presentation showed minimal osseous overgrowth and irregularity at the epiphyses around the left knee and ankle joints, respectively...
October 14, 2016: Skeletal Radiology
Yves J R Menezo, Erica Silvestris, Brian Dale, Kay Elder
The negative effect of oxidative stress on the human reproductive process is no longer a matter for debate. Oxidative stress affects female and male gametes and the developmental capacity of embryos. Its effect can continue through late stages of pregnancy. Metabolic disorders and psychiatric problems can also be caued by DNA methylation and epigenetic errors. Age has a negative effect on oxidative stress and DNA methylation, and recent observations suggest that older men are at risk of transmitting epigenetic disorders to their offspring...
September 27, 2016: Reproductive Biomedicine Online
O Rapalino, E M Ratai
Magnetic resonance spectroscopy (MRS) is a magnetic resonance-based imaging modality that allows noninvasive sampling of metabolic changes in normal and abnormal brain parenchyma. MRS is particularly useful in the differentiation of developmental or non-neoplastic disorders from neoplastic processes. MRS is also useful during routine imaging follow-up after radiation treatment or during antiangiogenic treatment and for predicting outcomes and treatment response. The objective of this article is to provide a concise but thorough review of the basic physical principles, important applications of MRS in brain tumor imaging, and future directions...
November 2016: Magnetic Resonance Imaging Clinics of North America
T Y Brumback, Matthew Worley, Tam T Nguyen-Louie, Lindsay M Squeglia, Joanna Jacobus, Susan F Tapert
Adolescence is a period marked by increases in risk taking, sensation seeking, and emotion dysregulation. Neurobiological models of adolescent development propose that lagging development in brain regions associated with affect and behavior control compared to regions associated with reward and emotion processing may underlie these behavioral manifestations. Cross-sectional studies have identified several functional brain networks that may contribute to risk for substance use and psychopathology in adolescents...
November 2016: Development and Psychopathology
Ian R Gizer
Epidemiologic studies demonstrating high rates of co-occurrence among psychiatric disorders at the population level have contributed to large literatures focused on identifying the causal mechanisms underlying the patterns of co-occurrence among these disorders. Such efforts have long represented a core focus of developmental psychopathologists and have more recently been supported by the Research Domain Criteria initiative developed by the NIMH, which provides a further framework for how the hypothesized mechanisms can be studied at different levels of analysis...
November 2016: Development and Psychopathology
Benjamin L Hankin, Hannah R Snyder, Lauren D Gulley, Tina H Schweizer, Patricia Bijttebier, Sabine Nelis, Gim Toh, Michael W Vasey
It is well known that comorbidity is the rule, not the exception, for categorically defined psychiatric disorders, and this is also the case for internalizing disorders of depression and anxiety. This theoretical review paper addresses the ubiquity of comorbidity among internalizing disorders. Our central thesis is that progress in understanding this co-occurrence can be made by employing latent dimensional structural models that organize psychopathology as well as vulnerabilities and risk mechanisms and by connecting the multiple levels of risk and psychopathology outcomes together...
November 2016: Development and Psychopathology
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