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https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#1
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28385340/lacosamide-during-pregnancy-and-breastfeeding
#2
Simona Lattanzi, Claudia Cagnetti, Nicoletta Foschi, Leandro Provinciali, Mauro Silvestrini
BACKGROUND: The epilepsy treatment during pregnancy represents a balance between teratogenic hazard and seizure control. The aim of the study was to evaluate the safety and efficacy of lacosamide (LCS) during pregnancy and breastfeeding. METHODS: Patients referred to our Epilepsy Center for pregnancy planning who became pregnant while taking LCS were prospectively followed-up. Data on seizure frequency, side effects, pregnancy course, delivery and breastfeeding, birth outcome, congenital malformation and development of newborns were collected...
March 30, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28374482/safety-and-efficacy-of-treatment-with-asfotase-alfa-in-patients-with-hypophosphatasia-results-from-a-japanese-clinical-trial
#3
Taichi Kitaoka, Toshihiro Tajima, Keisuke Nagasaki, Toru Kikuchi, Katsusuke Yamamoto, Toshimi Michigami, Satoshi Okada, Ikuma Fujiwara, Masayuki Kokaji, Hiroshi Mochizuki, Tsutomu Ogata, Koji Tatebayashi, Atsushi Watanabe, Shuichi Yatsuga, Takuo Kubota, Keiichi Ozono
OBJECTIVE: Hypophosphatasia (HPP) is a rare skeletal disease characterized by hypomineralization and low alkaline phosphatase activity. Asfotase alfa (AA) has been recently developed to treat HPP complications. This study evaluated its safety and efficacy in Japan. DESIGN: Open-label, multicenter, prospective trial. Patients were enrolled in 11 hospitals from June 2014 to July 2015. PATIENTS: Thirteen patients (9 females, 4 males) ages 0 days to 34 years at baseline were enrolled and treated with AA (2 mg/kg three times weekly subcutaneously in all but one patient)...
April 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28366007/lessons-learned-while-developing-adapting-and-implementing-a-pilot-parent-mediated-behavioural-intervention-for-children-with-autism-spectrum-disorder-in-rural-bangladesh
#4
Jasmine M Blake, Eric Rubenstein, Peng-Chou Tsai, Hafizur Rahman, Sarah R Rieth, Hasmot Ali, Li-Ching Lee
Low- and middle-income countries often have limited resources, underdeveloped health systems and scarce knowledge of autism spectrum disorder. The objectives of this preliminary study were to develop and adapt intervention materials and to train a native clinician to implement a community-based parent-mediated behavioural intervention in rural Gaibandha, Bangladesh. Intervention materials to support parents' use of behavioural strategies were developed and refined by US behavioural intervention experts and Bangladesh field experts...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28356142/towards-evidence-based-vitamin-d-supplementation-in-infants-vitamin-d-intervention-in-infants-vidi-study-design-and-methods-of-a-randomised-controlled-double-blinded-intervention-study
#5
Otto Helve, Heli Viljakainen, Elisa Holmlund-Suila, Jenni Rosendahl, Helena Hauta-Alus, Maria Enlund-Cerullo, Saara Valkama, Kati Heinonen, Katri Räikkönen, Timo Hytinantti, Outi Mäkitie, Sture Andersson
BACKGROUND: Vitamin D is important for bone mass accrual during growth. Additionally, it is considered a requirement for a multitude of processes associated with, for example, the development of immunity. Many countries apply vitamin D supplementation strategies in infants, but the guidelines are not based on scientific evidence and aim at prevention of rickets. It remains unclear whether the recommended doses are sufficient for the wide array of other effects of vitamin D. The VIDI trial performed in Finland is the first large randomised controlled study for evaluation of the effects of different vitamin D supplemental doses in infancy on: 1...
March 29, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28353504/ways-to-write-a-milestone-approaches-to-operationalizing-the-development-of-competence-in-graduate-medical-education
#6
Andrea N Leep Hunderfund, Darcy A Reed, Stephanie R Starr, Rachel D Havyer, Tara R Lang, Suzanne M Norby
PURPOSE: To identify approaches to operationalizing the development of competence in Accreditation Council for Graduate Medical Education (ACGME) milestones. METHOD: The authors reviewed all 25 "Milestone Project" documents available on the ACGME Web site on September 11, 2013, using an iterative process to identify approaches to operationalizing the development of competence in the milestones associated with each of 601 subcompetencies. RESULTS: Fifteen approaches were identified...
March 28, 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28343952/program-director-perceptions-of-the-general-surgery-milestones-project
#7
Brian C Drolet, Jayson S Marwaha, Abdul Wasey, Adam Pallant
OBJECTIVE: As a result of the Milestones Project, all Accreditation Council for Graduate Medical Education accredited training programs now use an evaluation framework based on outcomes in 6 core competencies. Despite their widespread use, the Milestones have not been broadly evaluated. This study sought to examine program director (PD) perceptions of the Milestones Project. DESIGN, SETTING, AND PARTICIPANTS: A national survey of general surgery PDs distributed between January and March of 2016...
March 23, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28334953/early-motor-phenotype-detection-in-a-female-mouse-model-of-rett-syndrome-is-improved-by-cross-fostering
#8
Annie Vogel Ciernia, Michael Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSalle
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal development followed by regression in language and motor skills at 6-18 months of age. Mecp2 mutant mice recapitulate many of the clinical features of RTT, but the majority of behavioral assessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28328233/long-term-neurodevelopmental-outcome-of-neonates-with-hypernatremic-dehydration
#9
Hassan Boskabadi, Javad Akhondian, Maliheh Afarideh, Gholamali Maamouri, Sepideh Bagheri, Seyyed Mostafa Parizadeh, Majid Ghayour Mobarhan, Shabnam Mohammadi, Gordon A A Frens
BACKGROUND: Neonatal hypernatremic dehydration (NHD) is a dangerous condition that can lead to severe weight loss, renal impairment, and central nervous system complications. We aimed to evaluate the consequences of NHD in infants in their second year of life. MATERIALS AND METHODS: This was a prospective case-control study in Ghaem hospital, Mashhad, Iran. Sixty-five healthy breastfed neonates (serum sodium concentration <150 mmol/L) and 65 hypernatremic (serum sodium concentration ≥150 mmol/L) neonates were followed up from 2008 to 2011...
April 2017: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/28325545/friends-alcohol-related-social-networking-site-activity-predicts-escalations-in-adolescent-drinking-mediation-by-peer-norms
#10
Jacqueline Nesi, W Andrew Rothenberg, Andrea M Hussong, Kristina M Jackson
PURPOSE: Adolescents' increased use of social networking sites (SNS) coincides with a developmental period of heightened risk for alcohol use initiation. However, little is known regarding associations between adolescents' SNS use and drinking initiation nor the mechanisms of this association. This study examined longitudinal associations among adolescents' exposure to friends' alcohol-related SNS postings, alcohol-favorable peer injunctive norms, and initiation of drinking behaviors...
March 18, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/28322222/white-matter-maturation-is-associated-with-the-emergence-of-theory-of-mind-in-early-childhood
#11
Charlotte Grosse Wiesmann, Jan Schreiber, Tania Singer, Nikolaus Steinbeis, Angela D Friederici
The ability to attribute mental states to other individuals is crucial for human cognition. A milestone of this ability is reached around the age of 4, when children start understanding that others can have false beliefs about the world. The neural basis supporting this critical step is currently unknown. Here, we relate this behavioural change to the maturation of white matter structure in 3- and 4-year-old children. Tract-based spatial statistics and probabilistic tractography show that the developmental breakthrough in false belief understanding is associated with age-related changes in local white matter structure in temporoparietal regions, the precuneus and medial prefrontal cortex, and with increased dorsal white matter connectivity between temporoparietal and inferior frontal regions...
March 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28315883/complementary-foods-guidelines-and-practices
#12
Merryn J Netting, Maria Makrides
Complementary feeding, the transition from a breast milk-based diet to inclusion of other sources of nutrition in an infant's diet, is a major milestone in infant development. This transition period is important as it is a time when infants are vulnerable to developing nutritional deficiencies and occurs during a developmental stage when important food-related behavioral patterns are being established. As under- and overnutrition may coexist in children from the same country, it is important that advice provided by complementary feeding guidelines meets the needs of all children helping them to grow and develop into healthy adults...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28314450/conceptualization-of-success-in-young-adulthood
#13
REVIEW
Maryland Pao
Successful transition from childhood to adulthood is context and culture dependent. This article reviews concepts of mental health and theoretic constructs of successful adulthood that suggest intentional policies and practices are developed with a specific vision of success. Parents, educators, mental health professionals, and policymakers need to be cognizant of their assumptions and essential roles in these processes. The early development of illness may disrupt and alter the timelines of different developmental milestones and trajectories...
April 2017: Child and Adolescent Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/28306483/preschool-fantasy-reality-discrimination-influences-of-trait-and-primed-fearfulness
#14
Aleksandra V Petkova, Kathleen M Cain
Distinguishing between fantasy and reality is an important developmental milestone, achieved in the preschool years, that has been linked to children's cognitive capabilities and emotional knowledge. The authors examined the influence of both trait and prime fearfulness on preschoolers' ability to differentiate between fantastic and real situations. Forty 3-5-year-old preschoolers were administered a fearfulness assessment, a standard theory-of-mind task, and a fantasy-reality discrimination task (with or without a fear prime)...
March 2017: Journal of Genetic Psychology
https://www.readbyqxmd.com/read/28302228/anaesthetic-management-in-a-child-with-goldenhar-syndrome
#15
Waqas Ahmed Khan, Bushra Salim, Ausaf Ahmed Khan, Shakaib Chughtai
Goldenhar syndrome is a congenital disorder involving deformities of the face. It usually affects one side of the face only and poses significant challenges in the airway management. We herein, report an 8-year boy, known case of Goldenhar syndrome, who presented to our radiology suite for a magnetic resonance imaging (MRI) brain, followed by a computed tomography (CT) scan brain. The boy had various features of Goldenhar syndrome, e.g. cleft palate, absent right eye and ear, right mandibular hypoplasia, micrognathia, and preauricular tags...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28301081/relationship-between-early-motor-milestones-and-severity-of-restricted-and-repetitive-behaviors-in-children-and-adolescents-with-autism-spectrum-disorder
#16
Mirko Uljarević, Darren Hedley, Gail A Alvares, Kandice J Varcin, Andrew J O Whitehouse
This study explored the relationships between the later age of achievement of early motor milestones, current motor atypicalities (toe walking), and the severity of restricted and repetitive behaviors (RRBs) in individuals with autism spectrum disorder (ASD). Parents of 147 children and adolescents with ASD (Mage  = 8.09 years, SD = 4.28; 119 males) completed an early developmental milestones questionnaire and the Social Responsiveness Scale as a measure of Insistence on Sameness (IS) and Repetitive Mannerisms (RM)...
March 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#17
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28295917/gaze-based-rehearsal-in-children-under-7-a-developmental-investigation-of-eye-movements-during-a-serial-spatial-memory-task
#18
Candice C Morey, Silvana Mareva, Jaroslaw R Lelonkiewicz, Nicolas Chevalier
The emergence of strategic verbal rehearsal at around 7 years of age is widely considered a major milestone in descriptions of the development of short-term memory across childhood. Likewise, rehearsal is believed by many to be a crucial factor in explaining why memory improves with age. This apparent qualitative shift in mnemonic processes has also been characterized as a shift from passive visual to more active verbal mnemonic strategy use, but no investigation of the development of overt spatial rehearsal has informed this explanation...
March 12, 2017: Developmental Science
https://www.readbyqxmd.com/read/28289641/motor-and-cognitive-developmental-profiles-in-children-with-down-syndrome
#19
Hyo In Kim, Seong Woo Kim, Jiyong Kim, Ha Ra Jeon, Da Wa Jung
OBJECTIVE: To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down syndrome (DS). METHODS: Seventy-eight children with DS participated in this study. The medical history was taken and motoric milestone achievements recorded. The Korean Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) and Bayley Scales of Infant Development-II (BSID-II) were administered...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#20
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
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