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https://www.readbyqxmd.com/read/29204259/early-development-of-infants-with-neurofibromatosis-type-1-a-case-series
#1
Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg, Jonathan Green, Tony Charman, Mark Henry Johnson
Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29203503/multicentre-prospective-randomised-single-blind-controlled-study-protocol-of-the-effect-of-an-additional-parent-administered-sensorimotor-stimulation-on-neurological-development-of-preterm-infants-primebrain
#2
Karine Pelc, Irit Daniel, Bernard Wenderickx, Bernard Dan
INTRODUCTION: Preterm and very low birthweight infants are at increased risk for neurodevelopmental disorders, including cerebral palsy, sensory impairment and intellectual disability. Several early intervention approaches have been designed in the hope of optimising neurological development in this context. It seems important that the intervention takes into account parental mental health, focuses on parent-child interactions and lasts sufficiently long. This study aims to evaluate the effects of a stimulation programme administered by parents until 6 months post-term on motor and neurophysiological development of infants born preterm...
December 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/29193281/a-randomised-trial-of-enteral-glutamine-supplementation-for-very-preterm-children-showed-no-beneficial-or-adverse-long-term-neurodevelopmental-outcomes
#3
E Sabrina Twilhaar, Jorrit F de Kieviet, Jaap Oosterlaan, Ruurd M van Elburg
AIM: This study evaluated the long-term effects of enteral glutamine supplementation on neurodevelopmental outcomes of a Dutch cohort of very preterm children at 13 years of age. METHODS: The cohort was enrolled in a randomised placebo-controlled trial between 2001-2003 in which infants received glutamine- or alanine-supplemented enteral nutrition during the first month of life. Participants were invited for follow up at a mean age of 13.30 years. Motor, neurocognitive, academic and behavioural outcomes were assessed in 61 children...
November 28, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29191797/web-based-intervention-to-teach-developmentally-supportive-care-to-parents-of-preterm-infants-feasibility-and-acceptability-study
#4
Thuy Mai Luu, Li Feng Xie, Perrine Peckre, Sylvana Cote, Thierry Karsenti, Claire-Dominique Walker, Julie Gosselin
BACKGROUND: Preterm birth affects 8% to 11% of the population and conveys a significant risk of developmental delays. Intervention programs that support child development have been shown to have a positive impact on early motor and cognitive development and on parental well-being. However, these programs are often difficult to implement in a real-life setting due to lack of resources. Hence, our multidisciplinary team developed Mieux Agir au Quotidien (MAQ) to teach developmentally supportive care to parents of preterm infants with the goal of improving child development and parental outcomes...
November 30, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/29187847/a-multilayered-control-of-the-human-survival-motor-neuron-gene-expression-by-alu-elements
#5
REVIEW
Eric W Ottesen, Joonbae Seo, Natalia N Singh, Ravindra N Singh
Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Mutations or deletions of SMN1, which codes for SMN, cause spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Aberrant expression or localization of SMN has been also implicated in other pathological conditions, including male infertility, inclusion body myositis, amyotrophic lateral sclerosis and osteoarthritis. SMN2 fails to compensate for the loss of SMN1 due to skipping of exon 7, leading to the production of SMNΔ7, an unstable protein...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29181530/neurodevelopmental-and-behavioral-outcomes-in-extremely-premature-neonates-with-ventriculomegaly-in-the-absence-of-periventricular-intraventricular-hemorrhage
#6
Athina Pappas, Ira Adams-Chapman, Seetha Shankaran, Scott A McDonald, Barbara J Stoll, Abbot R Laptook, Waldemar A Carlo, Krisa P Van Meurs, Susan R Hintz, Martha D Carlson, Jane E Brumbaugh, Michele C Walsh, Myra H Wyckoff, Abhik Das, Rosemary D Higgins
Importance: Studies of cranial ultrasonography and early childhood outcomes among cohorts of extremely preterm neonates have linked periventricular-intraventricular hemorrhage and cystic periventricular leukomalacia with adverse neurodevelopmental outcomes. However, the association between nonhemorrhagic ventriculomegaly and neurodevelopmental and behavioral outcomes is not fully understood. Objective: To characterize the outcomes of extremely preterm neonates younger than 27 weeks' gestational age who experienced nonhemorrhagic ventriculomegaly that was detected prior to 36 weeks' postmenstrual age...
November 27, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29174411/gestational-intermittent-hypoxia-increases-susceptibility-to-neuroinflammation-and-alters-respiratory-motor-control-in-neonatal-rats
#7
REVIEW
Stephen M Johnson, Karanbir S Randhawa, Jenna J Epstein, Ellen Gustafson, Austin D Hocker, Adrianne G Huxtable, Tracy L Baker, Jyoti J Watters
Sleep disordered breathing (SDB) and obstructive sleep apnea (OSA) during pregnancy are growing health concerns because these conditions are associated with adverse outcomes for newborn infants. SDB/OSA during pregnancy exposes the mother and the fetus to intermittent hypoxia. Direct exposure of adults and neonates to IH causes neuroinflammation and neuronal apoptosis, and exposure to IH during gestation (GIH) causes long-term deficits in offspring respiratory function. However, the role of neuroinflammation in CNS respiratory control centers of GIH offspring has not been investigated...
November 22, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29173720/feeding-problems-in-infants-and-children-assessment-and-etiology
#8
REVIEW
Kathleen C Borowitz, Stephen M Borowitz
Feeding problems in infants and young children are common. In healthy children who are developing and growing normally, feeding problems are usually not serious and can be managed conservatively by reassuring the family and providing them with anticipatory guidance and follow-up. A majority of serious childhood feeding problems occur in children who have other medical, developmental, or behavioral problems. These are best evaluated and treated by an interprofessional team who can identify and address issues in the medical and/or developmental history, problems with oral motor control and function, problems with swallowing, and behavioral and/or sensory issues that may interfere with normal feeding...
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29173319/impact-of-the-neonatal-resuscitation-program-recommended-low-oxygen-strategy-on-outcomes-of-infants-born-preterm
#9
COMPARATIVE STUDY
Vishal S Kapadia, Charitharth V Lal, Venkat Kakkilaya, Roy Heyne, Rashmin C Savani, Myra H Wyckoff
OBJECTIVE: To evaluate the impact of the Neonatal Resuscitation Program (NRP)-recommended low oxygen strategy (LOX) on neonatal morbidities, mortality, and neurodevelopmental outcomes in neonates born preterm. STUDY DESIGN: In March 2011, Parkland Hospital changed from a high oxygen strategy (HOX) of resuscitation with initial 100% oxygen and targeting 85%-94% oxygen saturation for delivery room resuscitation to a LOX with initial 21% oxygen and titrating oxygen to meet NRP-recommended transitional target saturations...
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29170682/adaptive-skill-trajectories-in-infants-with-fragile-x-syndrome-contrasted-to-typical-controls-and-infants-at-high-risk-for-autism
#10
Kelly E Caravella, Jane E Roberts
Background: Adaptive behaviors are essential for optimal outcomes and independence in individuals with developmental disabilities. This study examined longitudinal trajectories of adaptive behavior in infants with fragile X syndrome (FXS), compared to typical development (TD) and infant siblings of children diagnosed with autism (ASIBs). Method: Participants included 76 male infants (FXS =25, ASIBs=27, TD = 24) assessed up to 4 times between 6 and 24 months of age for a total of 215 assessments of adaptive behavior...
August 2017: Research in Autism Spectrum Disorders
https://www.readbyqxmd.com/read/29158765/usefulness-of-the-korean-developmental-screening-test-for-infants-and-children-for-the-evaluation-of-developmental-delay-in-korean-infants-and-children-a-single-center-study
#11
Chung-Hyuk Yim, Gun-Ha Kim, Baik-Lin Eun
Purpose: To evaluate the usefulness of the Korean Developmental Screening Test (K-DST) for infants and children for developmental delay assessment. Methods: This study was based on retrospective studies of the results of the K-DST, Preschool Receptive-Expressive Language Scale (PRES), Sequenced Language Scale for Infants (SELSI), Childhood Autism Rating Scale (CARS), Modified Checklist for Autism in Toddlers (M-CHAT), electroencephalography, magnetic resonance imaging, and extensive tests conducted in 209 of 1,403 patients, of whom 758 underwent the K-DST at the Korea University Guro Hospital between January 2015 and December 2016 and 645 were referred from local clinics between January 2015 and June 2016...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29156647/effects-of-nutritional-interventions-during-pregnancy-on-infant-and-child-cognitive-outcomes-a-systematic-review-and-meta-analysis
#12
REVIEW
Rachael M Taylor, Shanna M Fealy, Alessandra Bisquera, Roger Smith, Clare E Collins, Tiffany-Jane Evans, Alexis J Hure
BACKGROUND: Epidemiological studies have demonstrated that folate, iodine and iron intake during pregnancy impacts on foetal brain development and cognitive function. However, in human studies, the relationship with other dietary nutrients is less clear. OBJECTIVE: This systematic review aims to critically appraise the current literature and meta-analyses results from nutritional interventions during pregnancy that aimed to optimise infant and child cognitive outcomes...
November 20, 2017: Nutrients
https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#13
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29127891/elevated-maternal-anxiety-in-the-nicu-predicts-worse-fine-motor-outcome-in-vlbw-infants
#14
Michelle M Greene, Beverly Rossman, Paula Meier, Kousiki Patra
AIM: The literature is sparse with respect to the impact of elevated maternal psychological distress in the neonatal intensive care unit (NICU) on later neurodevelopmental outcome in VLBW infants. The objective of this study is to examine the impact of elevated maternal distress, defined as elevated depression, anxiety and perinatal-specific post-traumatic stress, during the NICU hospitalization on VLBW infant ND outcome at 20months corrected age (CA). METHODS: This was a prospective study of 69 mothers and their VLBW infants recruited in 2011-2012...
November 8, 2017: Early Human Development
https://www.readbyqxmd.com/read/29095379/using-functional-connectivity-magnetic-resonance-imaging-to-measure-brain-connectivity-in-preterm-infants
#15
Rita Pickler, Stephanie Sealschott, Margo Moore, Stephanie Merhar, Jean Tkach, Andrew P Salzwedel, Weili Lin, Wai Gao
BACKGROUND: The use of functional connectivity magnetic resonance imaging (fcMRI) in research involving preterm infants is relatively new, and its feasibility in this population is not fully established. However, fcMRI images reveal functional neural connections that may be useful in establishing the mechanisms of neuroprotective interventions in preterm infants. OBJECTIVE: The aim of this study was to determine the feasibility of using fcMRI to measure differences in functional neural connections in nursing intervention studies...
November 2017: Nursing Research
https://www.readbyqxmd.com/read/29092884/breastfeeding-and-motor-development-in-term-and-preterm-infants-in-a-longitudinal-us-cohort
#16
Kara A Michels, Akhgar Ghassabian, Sunni L Mumford, Rajeshwari Sundaram, Erin M Bell, Scott C Bello, Edwina H Yeung
Background: The relation between breastfeeding and early motor development is difficult to characterize because of the problems in existing studies such as incomplete control for confounding, retrospective assessment of infant feeding, and even the assessment of some motor skills too early.Objective: We sought to estimate associations between infant feeding and time to achieve major motor milestones in a US cohort.Design: The Upstate New York Infant Development Screening Program (Upstate KIDS Study) enrolled mothers who delivered live births in New York (2008-2010)...
December 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29091570/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy
#17
RANDOMIZED CONTROLLED TRIAL
Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C De Vivo
BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODS: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy...
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29078366/neurobiology-of-culturally-common-maternal-responses-to-infant-cry
#18
Marc H Bornstein, Diane L Putnick, Paola Rigo, Gianluca Esposito, James E Swain, Joan T D Suwalsky, Xueyun Su, Xiaoxia Du, Kaihua Zhang, Linda R Cote, Nicola De Pisapia, Paola Venuti
This report coordinates assessments of five types of behavioral responses in new mothers to their own infants' cries with neurobiological responses in new mothers to their own infants' cries and in experienced mothers and inexperienced nonmothers to infant cries and other emotional and control sounds. We found that 684 new primipara mothers in 11 countries (Argentina, Belgium, Brazil, Cameroon, France, Kenya, Israel, Italy, Japan, South Korea, and the United States) preferentially responded to their infants' vocalizing distress by picking up and holding and by talking to their infants, as opposed to displaying affection, distracting, or nurturing...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29070544/excess-iron-intake-as-a-factor-in-growth-infections-and-development-of-infants-and-young-children
#19
REVIEW
Bo Lönnerdal
The provision of iron via supplementation or the fortification of foods has been shown to be effective in preventing and treating iron deficiency and iron deficiency anemia in infants and young children. However, iron is a pro-oxidative element and can have negative effects on biological systems even at moderate amounts. An increasing number of studies have reported adverse effects of iron that was given to infants and young-children populations who initially were iron replete. These effects include decreased growth (both linear growth and weight), increased illness (usually diarrhea), interactions with other trace elements such as copper and zinc, altered gut microbiota to more pathogenic bacteria, increased inflammatory markers, and impaired cognitive and motor development...
December 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29063960/neurodevelopmental-outcome-in-survivors-of-hypoxic-ischemic-encephalopathy-without-cerebral-palsy
#20
Breda C Hayes, Elaine Doherty, Andrea Grehan, Cathy Madigan, Cliona McGarvey, Siobhan Mulvany, Tom G Matthews, Mary D King
To access outcome following hypoxic ischemic encephalopathy (HIE), survivors without cerebral palsy were invited for formal developmental assessment. Children aged ≥ 42 months were assessed using the NEPSY-2, Movement Assessment Battery for Children 2 (Movement ABC-2), Behavior Rating Inventory of Executive Function, and the Child Behavior Checklist. Children aged < 42 months were assessed using the Bayley Scales of Infant and Toddler Development, Third Edition (BSITD-3). One hundred forty-six children attended for assessments [Grade 1 (112), Grade 2 (33), and Grade 3 (1)]...
October 24, 2017: European Journal of Pediatrics
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