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https://www.readbyqxmd.com/read/29457425/-progress-on-research-of-madelung-s-deformity
#1
REVIEW
Yu-Xin Song, Zeng-Ping Wang, Lin Liu, Wen Xue, Zhong-Yu Hao, Qun-Li Zhang, Wei She, Li-Yang Cai, Hai-Tao Gou, Yao-Wen Qian
Madelung deformity is a rare deformity of forearm and wrist caused by growth disorders of distal radius ulnar and palmar epiphyseal. Current studies showed that its incidence mainly associated with trauma, epiphyseal developmental abnormalities, nutritional disorders and genetic deletion or mutation. The early clinical presentation is not typical, in middle and late time, wrist deformity and weak can appear. Plain film considered as the main means of diagnosis is often lack of early diagnosis significance. Although wrist joint magnetic resonance imaging showing early soft tissue and skeletal abnormalities were used for the early diagnosis of the disease, current domestic study in magnetic resonance imaging of this deformity is less...
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29456928/behavioural-and-emotional-disorders-in-childhood-a-brief-overview-for-paediatricians
#2
REVIEW
Michael O Ogundele
Mental health problems in children and adolescents include several types of emotional and behavioural disorders, including disruptive, depression, anxiety and pervasive developmental (autism) disorders, characterized as either internalizing or externalizing problems. Disruptive behavioural problems such as temper tantrums, attention deficit hyperactivity disorder, oppositional, defiant or conduct disorders are the commonest behavioural problems in preschool and school age children. The routine Paediatric clinic or Family Medicine/General Practitioner surgery presents with several desirable characteristics that make them ideal for providing effective mental health services to children and adolescents...
February 8, 2018: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/29456277/differential-attention-to-faces-in-infant-siblings-of-children-with-autism-spectrum-disorder-and-associations-with-later-social-and-language-ability
#3
Jennifer B Wagner, Rhiannon J Luyster, Hana Moustapha, Helen Tager-Flusberg, Charles A Nelson
A growing body of literature has begun to explore social attention in infant siblings of children with autism spectrum disorder (ASD) with hopes of identifying early differences that are associated with later ASD or other aspects of development. The present study used eye-tracking to familiar (mother) and unfamiliar (stranger) faces in two groups of 6-month-old infants: infants with no family history of ASD (low-risk controls; LRC), and infants at high risk for ASD (HRA), by virtue of having an older sibling with ASD...
2018: International Journal of Behavioral Development
https://www.readbyqxmd.com/read/29455716/how-collegiate-fraternity-and-sorority-involvement-relates-to-substance-use-during-young-adulthood-and-substance-use-disorders-in-early-midlife-a-national-longitudinal-study
#4
Sean Esteban McCabe, Philip Veliz, John E Schulenberg
PURPOSE: To assess how social fraternity involvement (i.e., membership and residence) in college relates to substance use behaviors and substance use disorder symptoms during young adulthood and early midlife in a national sample. METHODS: National multi-cohort probability samples of US high school seniors from the Monitoring the Future study were assessed at baseline (age 18) and followed longitudinally via self-administered surveys across seven follow-up waves to age 35...
March 2018: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/29454168/genetic-and-environmental-influences-on-pubertal-hormones-in-human-hair-across-development
#5
Andrew D Grotzinger, Daniel A Briley, Laura E Engelhardt, Frank D Mann, Megan W Patterson, Jennifer L Tackett, Elliot M Tucker-Drob, K Paige Harden
Puberty is a complex biopsychosocial process that can affect an array of psychiatric and medical disorders emerging in adolescence. Although the pubertal process is driven by neuroendocrine changes, few quantitative genetic studies have directly measured puberty-relevant hormones. Hair samples can now be assayed for accumulation of hormones over several months. In contrast to more conventional salivary measures, hair measures are not confounded by diurnal variation or hormonal reactivity. In an ethnically and socioeconomically diverse sample of 1286 child and adolescent twins and multiples from 672 unique families, we estimated genetic and environmental influences on hair concentrations of testosterone, DHEA, and progesterone across the period of 8-18 years of age...
February 12, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29453709/prediction-of-autism-at-3-years-from-behavioural-and-developmental-measures-in-high-risk-infants-a-longitudinal-cross-domain-classifier-analysis
#6
G Bussu, E J H Jones, T Charman, M H Johnson, J K Buitelaar
We integrated multiple behavioural and developmental measures from multiple time-points using machine learning to improve early prediction of individual Autism Spectrum Disorder (ASD) outcome. We examined Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales, and early ASD symptoms between 8 and 36 months in high-risk siblings (HR; n = 161) and low-risk controls (LR; n = 71). Longitudinally, LR and HR-Typical showed higher developmental level and functioning, and fewer ASD symptoms than HR-Atypical and HR-ASD...
February 16, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29452336/invited-commentary-male-reproductive-system-congenital-malformations-and-the-risk-of-autism-spectrum-disorder
#7
Laura A Schieve, Stuart K Shapira
Autism spectrum disorder (ASD) is a prevalent developmental disorder. Studies indicate that while ASD etiology has a genetic component, the risk is polygenic, with gene-environment interactions being likely. The prenatal period is a critical exposure window for nongenetic risk factors. Previous studies have found positive associations between congenital malformations (all types) and ASD; a few also found specific associations between genitourinary system malformations and ASD; and one study found an association between hypospadias and ASD...
February 14, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29452000/optimal-items-for-assessing-sluggish-cognitive-tempo-in-children-across-mother-father-and-teacher-ratings
#8
Belén Sáez, Mateu Servera, Stephen P Becker, G Leonard Burns
A recent meta-analysis identified optimal items for assessing sluggish cognitive tempo (SCT) as distinct from attention deficit/hyperactivity disorder inattention (ADHD-IN), and a preliminary study with teacher ratings of children in the United States found strong support for the convergent and discriminant validity of 15 SCT items. The current study evaluated whether the same 15 SCT items demonstrated convergent and discriminant validity from ADHD-IN in a large, community-based sample of children in Spain, and whether validity results were replicated across mother, father, and teacher ratings...
February 16, 2018: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/29451098/the-association-between-preaxial-polydactyly-and-radial-longitudinal-deficiency-in-syndromic-cases-a-report-on-nine-families
#9
Mohammad M Al-Qattan
Preaxial polydactyly and radial longitudinal deficiency are usually viewed as two different entities. We present nine families with different disorders in which both preaxial polydactyly and radial longitudinal deficiency were seen in the phenotype. This indicates that both entities may be caused by the same developmental error or insult. The pathogenesis is complex and may be related to the interactions of two signalling loops: the first loop (named as the radial longitudinal deficiency loop) contains genes/proteins responsible for the development of the radial ray; and the second loop (named as the preaxial polydactyly loop) contains the Sonic Hedgehog involved in the pathogenesis of preaxial polydactyly...
January 1, 2018: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/29451071/childhood-emotional-invalidation-and-right-hemispheric-mu-suppression-during-a-pain-empathy-task-an-eeg-study
#10
Kirsten Arnett, Alexandra Roach, Meredith Elzy, Laura Jelsone-Swain
Empathy is a critical aspect of social behavior, and impairment in empathic processing is linked to hindered social interactions and several disorders. Despite much interest in this topic, our understanding of the developmental and neural involvement for empathic processing is limited. Recent evidence suggests the Mirror Neuron System (MNS) may play a role in this behavior, and that mu rhythm suppression found over the sensorimotor cortices may be a proxy for the MNS. Therefore, we aimed to measure mu rhythm oscillations in response to empathic processing during observation of painful action-based situations using electroencephalogram (EEG)...
February 16, 2018: Social Neuroscience
https://www.readbyqxmd.com/read/29450839/characterizing-health-disparities-in-the-age-of-autism-diagnosis-in-a-study-of-8-year-old-children
#11
Chandni Parikh, Margaret Kurzius-Spencer, Ann M Mastergeorge, Sydney Pettygrove
The diagnosis of autism spectrum disorder (ASD) is often delayed from the time of noted concerns to the actual diagnosis. The current study used child- and family-level factors to identify homogeneous classes in a surveillance-based sample (n = 2303) of 8-year-old children with ASD. Using latent class analysis, a 5-class model emerged and the class memberships were examined in relation to the child's median age at ASD diagnosis. Class 3, with known language delays and a high advantage socioeconomically had the lowest age of ASD diagnosis (46...
February 15, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29450838/prevention-and-management-of-obesity-in-children-with-autism-spectrum-disorder-among-primary-care-pediatricians
#12
Morgan Walls, Sarabeth Broder-Fingert, Emily Feinberg, Mari-Lynn Drainoni, Megan Bair-Merritt
Children with autism spectrum disorder (ASD) are at high risk for being overweight and obese. Little is known about how obesity in children with ASD is being addressed in primary care. This article reports findings from a survey completed by 327 general pediatricians, which included a fictional clinical vignette and Likert-scales assessing attitudes, practices, self-efficacy, and barriers to obesity management. Although the majority of respondents agreed pediatricians should be the main providers to manage obesity in children with ASD, few reported receiving adequate training to do so...
February 15, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29450616/early-motor-signs-of-autism-spectrum-disorder-in-spontaneous-position-and-movement-of-the-head
#13
Hirotaka Gima, Hideki Kihara, Hama Watanabe, Hisako Nakano, Junji Nakano, Yukuo Konishi, Tomohiko Nakamura, Gentaro Taga
We examined the characteristics of spontaneous movements at 9-20 weeks postterm age in very low birth-weight infants who later developed autism spectrum disorder (ASD). We analyzed video recordings of spontaneous movements of 39 children who had no clinical issues [typically developing (TD) group], 21 children who showed developmental delay, and 14 children who were diagnosed with ASD (ASD group) at 6 years of age. Head position in each video frame was classified by visual inspection. The percentage of midline head position (PMHP) and number of changes in head position were calculated...
February 15, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29449373/tyrosine-hydroxylase-down-regulation-after-loss-of-abelson-helper-integration-site-1-ahi1-promotes-depression-via-the-circadian-clock-pathway-in-mice
#14
Dongkai Guo, Shun Zhang, Hongyang Sun, Xingyun Xu, Zongbing Hao, Chenchen Mu, Xingshun Xu, Guanghui Wang, Haigang Ren
Abelson helper integration site 1 (AHI1) is associated with several neuropsychiatric and brain developmental disorders such as schizophrenia, depression, autism, and Joubert syndrome. Ahi1 deficiency in mice leads to behaviors typical of depression. However, the mechanisms by which AHI1 regulates behavior remain to be elucidated. Here, we found that down-regulation of expression of the rate-limiting enzyme in dopamine biosynthesis, tyrosine hydroxylase (TH), in the midbrains of Ahi1 -knockout (KO) mice is responsible for Ahi1 -deficiency-mediated depressive symptoms...
February 15, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29447839/consensus-statement-on-the-need-for-innovation-transition-and-implementation-of-developmental-neurotoxicity-dnt-testing-for-regulatory-purposes
#15
Ellen Fritsche, Philippe Grandjean, Kevin M Crofton, Michael Aschner, Alan Goldberg, Tuula Heinonen, Ellen V S Hessel, Helena Hogberg, Susanne Hougaard Bennekou, Pamela J Lein, Marcel Leist, William R Mundy, Martin Paparella, Aldert H Piersma, Magdalini Sachana, Gabriele Schmuck, Roland Solecki, Andrea Terron, Florianne Monnet-Tschudi, Martin F Wilks, Hilda Witters, Marie-Gabrielle Zurich, Anna Bal-Price
This consensus statement voices the agreement of scientific stakeholders from regulatory agencies, academia and industry that a new framework needs adopting for assessment of chemicals with the potential to disrupt brain development. An increased prevalence of neurodevelopmental disorders in children has been observed that cannot solely be explained by genetics and recently pre- and postnatal exposure to environmental chemicals has been suspected as a causal factor. There is only very limited information on neurodevelopmental toxicity, leaving thousands of chemicals, that are present in the environment, with high uncertainty concerning their developmental neurotoxicity (DNT) potential...
February 12, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29447214/high-efficiency-classification-of-children-with-autism-spectrum-disorder
#16
Genyuan Li, Olivia Lee, Herschel Rabitz
Autism spectrum disorder (ASD) is a wide-ranging collection of developmental diseases with varying symptoms and degrees of disability. Currently, ASD is diagnosed mainly with psychometric tools, often unable to provide an early and reliable diagnosis. Recently, biochemical methods are being explored as a means to meet the latter need. For example, an increased predisposition to ASD has been associated with abnormalities of metabolites in folate-dependent one carbon metabolism (FOCM) and transsulfuration (TS)...
2018: PloS One
https://www.readbyqxmd.com/read/29446767/clapo-syndrome-identification-of-somatic-activating-pik3ca-mutations-and-delineation-of-the-natural-history-and-phenotype
#17
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela Del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C Lopez-Gutierrez, Victor Martinez-Glez
PurposeCLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.MethodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing...
February 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29446217/clinical-staging-model-in-offspring-of-parents-with-bipolar-disorder-a-systematic-review
#18
REVIEW
Aigli Raouna, Cemre Su Osam, Angus MacBeth
OBJECTIVE: We sought to systematically review the literature on the psychiatric risk of offspring of parents with bipolar disorder (OPBD) using a developmental psychopathology framework. The review also sought to establish the utility of clinical stage modelling as a framework for identifying precursor disorders to later onset of bipolar disorder (BD) in OPBD. METHODS: A systematic search was performed using EMBASE, PsychINFO and Medline. Reference lists of included studies and previous reviews were also searched...
February 15, 2018: Bipolar Disorders
https://www.readbyqxmd.com/read/29446091/an-evaluation-of-delay-to-reinforcement-and-mand-variability-during-functional-communication-training
#19
Colin S Muething, Terry S Falcomata, Raechal Ferguson, Samantha Swinnea, Cayenne Shpall
Children with autism spectrum disorder and other developmental disabilities often exhibit invariant responding (i.e., restricted behavioral repertoires), deficits in communication, and challenging behavior. Approaches demonstrated in the basic and applied literature to increase response variability include extinction, lag schedules of reinforcement, and percentile schedules of reinforcement. Results of basic studies have also indicated that delays to reinforcement often produce increases in response variability...
February 14, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29446032/attention-deficit-hyperactivity-disorder-joint-hypermobility-related-disorders-and-pain-expanding-body-mind-connections-to-the-developmental-age
#20
REVIEW
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
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