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https://www.readbyqxmd.com/read/29454059/towards-a-regulatory-use-of-alternative-developmental-neurotoxicity-testing-dnt
#1
Andrea Terron, Susanne Hougaard Bennekou
There is a need for a more effective Developmental Neurotoxicity (DNT) screening which is scientifically driven by the fact that the developing nervous system might be more sensitive to exposures to some hazardous chemical. Additional concern comes from the recent societal concerns that toxic chemicals can contribute to the prevalence of neurodevelopment disabilities. Consequently, hazard identification and actions to reduce exposure to these chemicals is a priority in chemical risk assessment. To reach this goal a cost-efficient testing strategy based on a reliable in-vitro testing battery should be developed...
February 14, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29453235/a-workforce-survey-on-developmental-behavioral-pediatrics
#2
Carolyn Bridgemohan, Nerissa S Bauer, Britt A Nielsen, Anne DeBattista, Holly S Ruch-Ross, Linda B Paul, Nancy Roizen
BACKGROUND AND OBJECTIVES: Developmental-behavioral conditions are common, affecting ∼15% of US children. The prevalence and complexity of these conditions are increasing despite long wait times and a limited pipeline of new providers. We surveyed a convenience sample of the developmental-behavioral pediatric (DBP) workforce to determine current practices, workforce trends, and future needs. METHODS: An electronic survey was e-mailed to 1568 members of the American Academy of Pediatrics Section on Developmental and Behavioral Pediatrics and Council on Children with Disabilities, the Society for Developmental and Behavioral Pediatrics, and the National Association of Pediatric Nurse Practitioners Developmental and Behavioral Mental Health Special Interest Group...
February 16, 2018: Pediatrics
https://www.readbyqxmd.com/read/29449050/a-novel-truncating-mutation-in-flna-causes-periventricular-nodular-heterotopia-ehlers-danlos-like-collagenopathy-and-macrothrombocytopenia
#3
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi, Tsutomu Shinohara, Ayako Hattori, Takenori Kato, Sachiko Inukai, Katsumasa Kitamura, Tomoki Kawai, Osamu Ohara, Shinji Kunishima, Shinji Saitoh
INTRODUCTION: Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an attempt to establish a clearer correlation between clinical symptoms and genotype, we have investigated a phenotype that involves thrombocytopenia in a patient with a truncation of the FLNA gene...
February 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29447214/high-efficiency-classification-of-children-with-autism-spectrum-disorder
#4
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/29446091/an-evaluation-of-delay-to-reinforcement-and-mand-variability-during-functional-communication-training
#5
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
#6
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
https://www.readbyqxmd.com/read/29441708/loneliness-in-people-with-intellectual-and-developmental-disorders-across-the-lifespan-a-systematic-review-of-prevalence-and-interventions
#7
REVIEW
Petroutsou Alexandra, Hassiotis Angela, Afia Ali
BACKGROUND: The aim of the study was to conduct the first systematic review investigating the prevalence of loneliness in people with intellectual developmental disabilities (IDD) and the interventions targeting loneliness. METHOD: A search across five databases was conducted (May 2016-June 2016). One reviewer (A. P.) selected the articles for inclusion and assessed their risk of bias using a standardized tool. The second reviewer (A. H.) examined the list of included/excluded articles and the ratings of the studies...
February 14, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29441282/specific-learning-disability-in-mathematics-a-comprehensive-review
#8
REVIEW
Neelkamal Soares, Teresa Evans, Dilip R Patel
Math skills are necessary for success in the childhood educational and future adult work environment. This article reviews the changing terminology for specific learning disabilities (SLD) in math and describes the emerging genetics and neuroimaging studies that relate to individuals with math disability (MD). It is important to maintain a developmental perspective on MD, as presentation changes with age, instruction, and the different models (educational and medical) of identification. Intervention requires a systematic approach to screening and remediation that has evolved with more evidence-based literature...
January 2018: Translational Pediatrics
https://www.readbyqxmd.com/read/29437246/early-movement-restriction-leads-to-enduring-disorders-in-muscle-and-locomotion
#9
Maxime Delcour, Vicky S Massicotte, Michaël Russier, Hélène Bras, Julie Peyronnet, Marie-Hélène Canu, Florence Cayetanot, Mary F Barbe, Jacques-Olivier Coq
Motor control and body representation in the central nervous system (CNS) as well as musculoskeletal architecture and physiology are shaped during development by sensorimotor experience and feedback, but the emergence of locomotor disorders during maturation and their persistence over time remain a matter of debate in the absence of brain damage. By using transient immobilization of the hind limbs, we investigated the enduring impact of postnatal sensorimotor restriction (SMR) on gait and posture on treadmill, age-related changes in locomotion, musculoskeletal histopathology and Hoffmann reflex in adult rats without brain damage...
February 13, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29437050/motor-abnormalities-and-epilepsy-in-infants-and-children-with-evidence-of-congenital-zika-virus-infection
#10
André Pessoa, Vanessa van der Linden, Marshalyn Yeargin-Allsopp, Maria Durce Costa Gomes Carvalho, Erlane Marques Ribeiro, Kim Van Naarden Braun, Maureen S Durkin, Daniel M Pastula, Jazmyn T Moore, Cynthia A Moore
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; the phenotype has broadened to include microcephaly that develops after birth and neurodevelopmental sequelae. In this narrative review, we summarize medical literature describing motor abnormalities and epilepsy in infants with evidence of congenital ZIKV infection and provide information on the impact of these conditions. Specific scenarios are used to illustrate the complex clinical course in infants with abnormalities that are consistent with congenital Zika syndrome...
February 2018: Pediatrics
https://www.readbyqxmd.com/read/29435807/treatment-outcome-of-creatine-transporter-deficiency-international-retrospective-cohort-study
#11
Theodora U J Bruun, Sarah Sidky, Anabela O Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, Dwight D Koeberl, Diogo Luísa, Marie-Cecile Nassogne, Siobhan O'Sullivan, Katrin Õunap, Andreas Schulze, Lionel van Maldergem, Gajja S Salomons, Saadet Mercimek-Andrews
To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
February 12, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29433976/rate-of-deficit-accumulation-in-home-care-users-with-intellectual-and-developmental-disabilities
#12
Hélène Ouellette-Kuntz, Lynn Martin, Katherine McKenzie
PURPOSE: To identify factors associated with the rate of deficit accumulation in a population of adults with intellectual and developmental disabilities (IDD). METHODS: A longitudinal analysis of administratively held clinical data collected at routine home care assessments across Ontario (Canada) using the Resident Assessment Instrument for Home Care (RAI-HC) was conducted using a cohort comprised of 5074 adults with IDD 18-99 years of age who had at least two home care assessments between April 1, 2003 and March 31, 2015...
January 31, 2018: Annals of Epidemiology
https://www.readbyqxmd.com/read/29432245/evaluation-of-the-child-with-developmental-impairments
#13
Clara D M van Karnebeek
PURPOSE OF REVIEW: This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in children. RECENT FINDINGS: With a prevalence of 1% to 3% and substantial comorbidity, high lifetime costs, and emotional burden, intellectual developmental disorder is characterized by limitations in both intellectual functioning (IQ less than 70) and adaptive behavior starting before 18 years of age...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29432237/hypoxic-ischemic-encephalopathy-and-other-neonatal-encephalopathies
#14
Hannah C Glass
PURPOSE OF REVIEW: Neonatal encephalopathy is the most common condition in neonates encountered by child neurologists. The etiology is most often global hypoxia-ischemia due to failure of cerebral perfusion to the fetus caused by uterine, placental, or umbilical cord compromise prior to or during delivery. Other etiologies of neonatal encephalopathy include ischemic stroke and intracranial hemorrhage, infection, developmental anomalies, and inborn errors of metabolism. RECENT FINDINGS: Therapeutic hypothermia is standard of care for the treatment of neonatal encephalopathy presumed to be caused by hypoxia-ischemia...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29432115/the-pediatric-smartshoe-wearable-sensor-system-for-ambulatory-monitoring-of-physical-activity-and-gait
#15
Nagaraj Hegde, Ting Zhang, Gitendra Uswatte, Edward Taub, Joydip Barman, Staci McKay, Andrea Taylor, David M Morris, Angi Griffin, Edward S Sazonov
Cerebral palsy (CP) is a group of nonprogressive neuro-developmental conditions occurring in early childhood that causes movement disorders and physical disability. Measuring activity levels and gait patterns is an important aspect of CP rehabilitation programs. Traditionally, such programs utilize commercially available laboratory systems, which cannot to be utilized in community living. In this study, a novel, shoe-based, wearable sensor system (pediatric SmartShoe) was tested on 11 healthy children and 10 children with CP to validate its use for monitoring of physical activity and gait...
February 2018: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/29429572/mutations-in-the-baf-complex-subunit-dpf2-are-associated-with-coffin-siris-syndrome
#16
Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B Ekici, Marion Gerard, Nuria C Bramswig, Beate Albrecht, Jill Clayton-Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T Cho, Christian T Thiel, Hermann-Josef Lüdecke, Tim M Strom, Eduardo Calpena, Andrew O M Wilkie, Dagmar Wieczorek, Felix B Engel, André Reis
Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. Here, we report eight heterozygous de novo variants (one frameshift, two splice site, and five missense) in the gene encoding the BAF complex subunit double plant homeodomain finger 2 (DPF2)...
February 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29428363/psychometric-properties-of-the-inico-feaps-scale-in-a-danish-sample-with-autism-spectrum-disorders
#17
Ane Knüppel, Helle Jakobsen, Marlene Briciet Lauritsen, Gry Kjærsdam Telléus
BACKGROUND: There is a need to evaluate subjective perspectives of outcomes, such as quality of life (QoL), in individuals with autism spectrum disorders (ASD), but to date, there is no specific instrument available to assess this population. While the INICO-FEAPS scale is customized for studying QoL in adolescents and adults with intellectual and/or developmental disabilities, this scale has not been previously evaluated in an ASD population. AIMS: To examine the usability of the INICO-FEAPS scale in a Danish population of adolescents and adults with ASD...
February 8, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29428208/gender-differences-in-tobacco-use-among-u-s-special-olympics-athletes
#18
Elaine Eisenbaum, Diana M DiNitto, Lauren Bishop-Fitzpatrick
BACKGROUND: The rise in women's tobacco use and subsequent health complications has generated an increase in gender-related tobacco use research. However, no research has examined gender's influence on tobacco use among people with intellectual and developmental disabilities (IDD). OBJECTIVE: To examine 1) tobacco use prevalence rates among men and women with IDD, and 2) correlates of tobacco use among men and women with IDD. METHODS: This study examined gender differences in tobacco use among a sample of 3587 adult U...
February 1, 2018: Disability and Health Journal
https://www.readbyqxmd.com/read/29427860/health-care-expenditures-of-overweight-and-obese-u-s-adults-with-intellectual-and-developmental-disabilities
#19
Henan Li, Glenn Fujiura, Sandra Magaña, Susan Parish
BACKGROUND: U.S. adults with intellectual and developmental disabilities (IDD) have poorer health status and greater risks for being overweight and obese, which are major drivers of health care expenditures in the general population. Health care expenditures and IDD have not been studied using nationally representative samples, and the impact of overweight and obesity have not been examined. AIM: Using nationally representative data, we aimed to compare the health care expenditures of not-overweight, overweight and obese U...
February 7, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29427542/school-dysfunction-in-youth-with-autistic-spectrum-disorder-in-taiwan-the-effect-of-subtype-and-adhd
#20
Huey-Ling Chiang, Wei-Chih Kao, Mei-Chun Chou, Wen-June Chou, Yen-Nan Chiu, Yu-Yu Wu, Susan Shur-Fen Gau
School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths...
February 10, 2018: Autism Research: Official Journal of the International Society for Autism Research
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