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https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#1
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28645041/behavioral-and-neural-concordance-in-parent-child-dyadic-sleep-patterns
#2
Tae-Ho Lee, Michelle E Miernicki, Eva H Telzer
Sleep habits developed in adolescence shape long-term trajectories of psychological, educational, and physiological well-being. Adolescents' sleep behaviors are shaped by their parents' sleep at both the behavioral and biological levels. In the current study, we sought to examine how neural concordance in resting-state functional connectivity between parent-child dyads is associated with dyadic concordance in sleep duration and adolescents' sleep quality. To this end, we scanned both parents and their child (N=28 parent-child dyads; parent Mage=42...
June 15, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28644796/design-of-an-autonomous-social-orienting-training-system-asots-for-young-children-with-autism
#3
Zhi Zheng, Qiang Fu, Huan Zhao, Amy R Swanson, Amy S Weitlauf, Zachary E Warren, Nilanjan Sarkar
Social communication is among the core areas of impairment for children with Autism Spectrum Disorders (ASD). The training of social orientation is important for improving social communication of children with ASD. In recent years, technology-assisted ASD intervention had gained momentum due to its potential advantages in terms of precision, sustainability, flexibility and cost. In this paper, we propose a closed-loop autonomous computer system, named ASOTS, for training social orientation skills to young children with ASD...
June 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28644729/promoting-prenatal-exercise-from-a-sociocultural-and-life-course-perspective-an-embodied-conceptual-framework
#4
Shannon Jette, Julie Maier, Katelyn Esmonde, Cherise Davis
PURPOSE: Prenatal exercise is a health behavior that is receiving growing attention amid concern that women in Western societies are gaining excess weight during pregnancy and contributing to future obesity in both the mother and child. In this article, we draw on insights from the fields of social epidemiology and social theory of the body to examine existing prenatal exercise interventions and to propose a multidimensional framework intended to guide future theorizing and intervention design...
June 23, 2017: Research Quarterly for Exercise and Sport
https://www.readbyqxmd.com/read/28643164/how-to-keep-a-child-healthy
#5
B D Gupta, Adarsh Purohit
Keeping a child healthy is the most important priority of every parent. The child can be kept healthy by ensuring exclusive breastfeeding for first 6 mo of life, maintaining healthy weight throughout the childhood, providing adequate and balanced diet, promoting regular physical activity and adequate sleep, keeping a watch on all the parameters of development and referring the child to the specialist whenever deviation from normal is suspected. Proper and timely immunization as per the prevailing guidelines must be done to prevent serious infections...
June 23, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28642825/initial-development-of-the-early-intensive-behavioral-intervention-parental-self-efficacy-scale-a-pilot-study
#6
Aaron Blocher-Rubin, Paige Krabill
Early Intensive Behavioral Intervention (EIBI) is an effective treatment for children with autism. However, it is known that some parents struggle to fully implement the program, and providers are not always able to identify the specifics of each family's individualized challenges. The purpose of this pilot study was to begin the process of developing a new instrument, the EIBI Parental Self-Efficacy (EPSE) Scale, to help providers better assess and assist parents in regard to EIBI implementation. The methodology included four phases: scale construction, expert review, pretest administration, and a large sample pilot study (N = 192)...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28642548/hemodynamics-of-speech-production-an-fnirs-investigation-of-children-who-stutter
#7
B Walsh, F Tian, J A Tourville, M A Yücel, T Kuczek, A J Bostian
Stuttering affects nearly 1% of the population worldwide and often has life-altering negative consequences, including poorer mental health and emotional well-being, and reduced educational and employment achievements. Over two decades of neuroimaging research reveals clear anatomical and physiological differences in the speech neural networks of adults who stutter. However, there have been few neurophysiological investigations of speech production in children who stutter. Using functional near-infrared spectroscopy (fNIRS), we examined hemodynamic responses over neural regions integral to fluent speech production including inferior frontal gyrus, premotor cortex, and superior temporal gyrus during a picture description task...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28642374/behavioral-patterns-in-adolescents-born-at-23-to-25-weeks-of-gestation
#8
Maria Samuelsson, Antti Holsti, Marie Adamsson, Fredrik Serenius, Bruno Hägglöf, Aijaz Farooqi
BACKGROUND: This study examined mental health outcomes in extremely preterm children (EPT) born at 23 to 25 weeks of gestation between 1992 and 1998 at 2 Swedish tertiary care centers that offered regional and active perinatal care to all live-born EPT infants. METHODS: We assessed 132 (98%) of the 134 EPT survivors at 10 to 15 years of age alongside term-born controls. Behavioral and emotional problems were evaluated by using Achenbach's Child Behavior Checklist and Teacher Report Form and Conners' Parent and Teacher scales for attention-deficit/hyperactivity disorder...
June 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28641572/a-child-with-hypertension-and-ambiguous-genitalia-an-uncommon-variant-of-congenital-adrenal-hyperplasia-a-case-report
#9
Vivek Pant, Suman Baral, Bishal Shrestha, Arjun Tumbapo
BACKGROUND: Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child. CASE PRESENTATION: A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level...
June 23, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28641122/working-with-parents-to-treat-anxiety-disordered-children-a-proof-of-concept-rct-evaluating-fear-less-triple-p
#10
Vanessa E Cobham, Ania Filus, Matthew R Sanders
Little is known about the efficacy of parent-only interventions and the maintenance of gains over time with anxiety-disordered children and adolescents. The current study aimed to evaluate the efficacy of a 6-session parent-focused intervention (Fear-less Triple P) in reducing children's anxiety symptomatology. The parents of 61 anxiety-disordered children (7-14 years) were randomly assigned to either the 6-session parent-only group CBT intervention or a wait-list control (WL) group. Diagnostic and questionnaire measures were administered at post-treatment; as well as 3-, 6- and 12 months following the completion of treatment...
June 15, 2017: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/28641066/free-to-love-the-role-of-intrusive-parenting-for-young-adult-children-s-romantic-relationship-quality
#11
Miriam Parise, Claudia Manzi, Silvia Donato, Raffaella Iafrate
Intrusive parenting is a form of boundary disturbance in the parent-child relationship which has been consistently associated with children's maladjustment. The present study examines the role of intrusive parenting for young adult children's romantic relationship quality. Relying on data from a two-wave longitudinal study among young couples in transition to marriage in Italy, we investigated the link between young adults' perceived intrusive parenting and change in their romantic relationship quality from 6 months before marriage to 18 months after marriage, as well as the mediating role of change in the capacity to include the partner in the self...
July 2017: Journal of Prevention & Intervention in the Community
https://www.readbyqxmd.com/read/28640907/accelerometer-measured-levels-of-moderate-to-vigorous-intensity-physical-activity-and-sedentary-time-in-children-and-adolescents-with-chronic-disease-a-systematic-review-and-meta-analysis
#12
Rabha Elmesmari, John J Reilly, Anne Martin, James Y Paton
CONTEXT: Moderate-to-vigorous physical activity (MVPA) and sedentary time (ST) are important for child and adolescent health. OBJECTIVE: To examine habitual levels of accelerometer measured MVPA and ST in children and adolescents with chronic disease, and how these levels compare with healthy peers. METHODS: Data sources: An extensive search was carried out in Medline, Cochrane library, EMBASE, SPORTDiscus and CINAHL from 2000-2017. Study selection: Studies with accelerometer-measured MVPA and/or ST (at least 3 days and 6 hours/day to provide estimates of habitual levels) in children 0-19 years of age with chronic diseases but without co-morbidities that would present major impediments to physical activity...
2017: PloS One
https://www.readbyqxmd.com/read/28640510/paediatric-intensive-care-nurses-decision-making-around-gastric-residual-volume-measurement
#13
Lyvonne N Tume, Lynne Latten, Lindsay Kenworthy
BACKGROUND: Measuring gastric residual volume (GRV) to guide enteral feeding is a common nursing practice in intensive care units, yet little evidence supports this practice. In addition, this practice has been shown to potentially contribute to inadequate energy delivery in intensive care, which remains a problem in critically ill children. AIMS: We aimed to explore paediatric intensive care nurses' decision-making surrounding this practice. METHODS: This is a cross-sectional electronic survey in a single mixed general and cardiac surgical PICU in the UK...
June 22, 2017: Nursing in Critical Care
https://www.readbyqxmd.com/read/28639698/definitional-elasticity-in-the-measurement-of-intergenerational-continuity-in-substance-use
#14
Thomas A Loughran, Pilar Larroulet, Terence P Thornberry
Increasingly, three generation studies have investigated intergenerational (IG) continuity and discontinuity in substance use and related problem behaviors. However, surprisingly little attention has been paid to the conceptual definition of continuity or to different types of discontinuity (resilience and escalation) or to measurement sensitivity, which affects not only the magnitudes of observed continuity but also factors that correlate with this linkage. This study uses longitudinal data on 427 parent-child dyads from the Rochester IG Study to study continuity and discontinuity in substance use over ages 14-18...
June 22, 2017: Child Development
https://www.readbyqxmd.com/read/28639396/the-influence-of-parental-concern-on-the-utility-of-autism-diagnostic-instruments
#15
Karoline Alexandra Havdahl, Somer L Bishop, Pål Surén, Anne-Siri Øyen, Catherine Lord, Andrew Pickles, Stephen von Tetzchner, Synnve Schjølberg, Nina Gunnes, Mady Hornig, W Ian Lipkin, Ezra Susser, Michaeline Bresnahan, Per Magnus, Nina Stenberg, Ted Reichborn-Kjennerud, Camilla Stoltenberg
The parental report-based Autism Diagnostic Interview-Revised (ADI-R) and the clinician observation-based Autism Diagnostic Observation Schedule (ADOS) have been validated primarily in U.S. clinics specialized in autism spectrum disorder (ASD), in which most children are referred by their parents because of ASD concern. This study assessed diagnostic agreement of the ADOS-2 and ADI-R toddler algorithms in a more broadly based sample of 679 toddlers (age 35-47 months) from the Norwegian Mother and Child Cohort...
June 22, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28639319/diet-physical-activity-and-behavioural-interventions-for-the-treatment-of-overweight-or-obese-children-from-the-age-of-6-to-11-years
#16
REVIEW
Emma Mead, Tamara Brown, Karen Rees, Liane B Azevedo, Victoria Whittaker, Dan Jones, Joan Olajide, Giulia M Mainardi, Eva Corpeleijn, Claire O'Malley, Elizabeth Beardsmore, Lena Al-Khudairy, Louise Baur, Maria-Inti Metzendorf, Alessandro Demaio, Louisa J Ells
BACKGROUND: Child and adolescent overweight and obesity has increased globally, and can be associated with significant short- and long-term health consequences. This is an update of a Cochrane review published first in 2003, and updated previously in 2009. However, the update has now been split into six reviews addressing different childhood obesity treatments at different ages. OBJECTIVES: To assess the effects of diet, physical activity and behavioural interventions (behaviour-changing interventions) for the treatment of overweight or obese children aged 6 to 11 years...
June 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28639209/substance-use-and-misuse-among-children-and-youth-with-mental-illness-a%C3%A2-pilot-study
#17
V Herz, N Franzin, J Huemer, D Mairhofer, J Philipp, K Skala
OBJECTIVE: The aim of this study was to examine prevalence, patterns and predictors of substance use among a sample of adolescent psychiatric inpatients. METHODS: Participants included 25 minors aged 12-17 years admitted to an Austrian department of child and adolescent psychiatry. Lifetime use, initiation, frequency and quantity of substance use, sociodemographic, family and school-related data were collected by self-report measures. Substance use disorders were detected using CAGE (a screening instrument for problem drinking) and FTND (Fagerström Test For Nicotine Dependence)...
June 21, 2017: Neuropsychiatrie: Klinik, Diagnostik, Therapie und Rehabilitation
https://www.readbyqxmd.com/read/28637761/mother-to-child-hiv-transmission-bottleneck-selects-for-consensus-virus-with-lower-gag-protease-driven-replication-capacity
#18
Vanessa L Naidoo, Jaclyn K Mann, Christie Noble, Emily Adland, Jonathan M Carlson, Jake Thomas, Chanson J Brumme, Christina F Thobakgale-Tshabalala, Zabrina L Brumme, Mark A Brockman, Philip J R Goulder, Thumbi Ndung'u
HIV infection is in the large majority of cases established by a single variant and understanding the characteristics of successfully transmitted variants is relevant to prevention strategies. Few studies have investigated the viral determinants of mother-to-child transmission. To determine the impact of Gag-protease driven viral replication capacity on mother-to-child transmission, the replication capacities of 148 recombinant viruses encoding plasma derived Gag-protease from 53 non-transmitter mothers, 48 transmitter mothers and 47 infected infants were assayed in an HIV-1 inducible green fluorescent protein reporter cell line...
June 21, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28637654/implementation-of-instrument-based-vision-screening-for-preschool-age-children-in-primary-care
#19
Jonathan R Modest, Katherine M Majzoub, Bruce Moore, Vijeta Bhambhani, Sarah R McLaughlin, Louis Vernacchio
BACKGROUND: Vision screening is an essential element of well-child care for young children. Recently, several professional groups have recommended the use of instrument-based screening; however, studies demonstrating the effectiveness of this technique in pediatric primary care settings are lacking. METHODS: We designed a cluster randomized quality improvement project to test the implementation of instrument-based vision screening for 3- to 5-year-old children within a pediatric primary care network...
June 21, 2017: Pediatrics
https://www.readbyqxmd.com/read/28637529/predictors-of-adults-body-mass-index-and-the-association-with-index-child-s-infant-birth-weight-in-the-lifeways-cross-generation-cohort-study-of-a-thousand-families-in-the-republic-of-ireland
#20
S McKey, M Heinen, J Mehegan, R Somerville, H Khalil, R Segurado, C Murrin, C C Kelleher
The Lifeways study is novel in having information on three generations of the same families. It is well established that infant birth weight (IBW) predicts individuals' risk of adult chronic disease and more recently studies report cross-generation transmission of risk patterns. The aims of this analysis were to examine whether adults' birth weights were associated with measures of own health status or social position and to relate adults' birth weights to that of the index child's IBW. Finally, we assessed whether birth weight of either adults or children was associated with adult body mass index (BMI) of parents and grandparents...
June 22, 2017: Journal of Developmental Origins of Health and Disease
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