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developmental milestones

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https://www.readbyqxmd.com/read/29758563/pilot-study-of-population-based-newborn-screening-for-spinal-muscular-atrophy-in-new-york-state
#1
Jennifer N Kraszewski, Denise M Kay, Colleen F Stevens, Carrie Koval, Bianca Haser, Veronica Ortiz, Anthony Albertorio, Lilian L Cohen, Ritu Jain, Sarah P Andrew, Sally Dunaway Young, Nicole M LaMarca, Darryl C De Vivo, Michele Caggana, Wendy K Chung
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29757012/developmental-trajectory-of-motor-deficits-in-preschool-children-with-adhd
#2
Kristie L Sweeney, Matthew Ryan, Heather Schneider, Lisa Ferenc, Martha Bridge Denckla, E Mark Mahone
Motor deficits persisting into childhood (>7 years) are associated with increased executive and cognitive dysfunction, likely due to parallel neural circuitry. This study assessed the longitudinal trajectory of motor deficits in preschool children with ADHD, compared to typically developing (TD) children, in order to identify individuals at risk for anomalous neurological development. Participants included 47 children (21 ADHD, 26 TD) ages 4-7 years who participated in three visits (V1, V2, V3), each one year apart (V1=48-71 months, V2=60-83 months, V3=72-95 months)...
May 14, 2018: Developmental Neuropsychology
https://www.readbyqxmd.com/read/29751834/a-method-to-develop-vocabulary-checklists-in-new-languages-and-their-validity-to-assess-early-language-development
#3
Elizabeth L Prado, John Phuka, Eugenia Ocansey, Kenneth Maleta, Per Ashorn, Ulla Ashorn, Seth Adu-Afarwuah, Brietta M Oaks, Anna Lartey, Kathryn G Dewey
BACKGROUND: Since the adoption of United Nations' Sustainable Goal 4.2 to ensure that all children have access to quality early child development (ECD) so that they are ready for primary education, the demand for valid ECD assessments has increased in contexts where they do not yet exist. The development of early language ability is important for school readiness. Our objective was to evaluate the validity of a method to develop vocabulary checklists in new languages to assess early language development, based on the MacArthur-Bates Communicative Development Inventories...
May 11, 2018: Journal of Health, Population, and Nutrition
https://www.readbyqxmd.com/read/29748952/disentangling-tourette-syndrome-heterogeneity-through-hierarchical-ascendant-clustering
#4
Elena Cravedi, Emmanuelle Deniau, Marianna Giannitelli, Hugues Pellerin, Virginie Czernecki, Tiphanie Priou, Jean Xavier, Angèle Consoli, Andreas Hartmann, David Cohen
AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows...
May 10, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29742513/human-adrenal-cortex-epigenetics-and-postnatal-functional-zonation
#5
María Sonia Baquedano, Alicia Belgorosky
The human adrenal cortex, involved in adaptive responses to stress, fluid homeostasis, and secondary sexual characteristics, arises from a tightly regulated development of a zone and cell type-specific secretory pattern. However, the molecular mechanisms governing adrenal zonation, particularly postnatal zona reticularis development, which produce adrenal androgens in a lifetime-specific manner, remain poorly understood. Epigenetic events, including DNA and histone modifications as well as regulation by noncoding RNAs, are crucial in establishing or maintaining the expression pattern of specific genes and thus contribute to the stability of a specific differentiation state...
May 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29740904/falling-through-the-cracks-a-thematic-evaluation-of-unmet-needs-of-adult-survivors-of-childhood-cancers
#6
Jennifer White, Joanne Park, K Brooke Russell, K A Reynolds, A Madani, Linda E Carlson, Janine Giese-Davis
BACKGROUND: The population of adult survivors of childhood cancers (ASCCs) is growing, resulting in unique long-term challenges. This study explored experiences of perceived unmet ASCC survivorship needs. METHODS: We invited ASCCs to complete surveys sent through the cancer registry. Four open-ended questions allowed participants to write in comments. We analyzed responses to these open-ended questions thematically, employing a process of constant comparison. RESULTS: Our sample included 94 ASCCs who completed open-ended questions (61 female; aged 20-78 years, mean age=34...
May 8, 2018: Psycho-oncology
https://www.readbyqxmd.com/read/29716957/lifespan-analysis-of-brain-development-gene-expression-and-behavioral-phenotypes-in-the-ts1cje-ts65dn-and-dp-16-1-yey-mouse-models-of-down-syndrome
#7
Nadine M Aziz, Faycal Guedj, Jeroen L A Pennings, Jose Luis Olmos-Serrano, Ashley Siegel, Tarik F Haydar, Diana W Bianchi
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological hallmarks of DS include atypical central nervous system development that manifests prenatally and extends throughout life. As a result, individuals with DS exhibit cognitive and motor deficits and have delays in achieving developmental milestones. To determine whether different mouse models of DS recapitulate the human prenatal and postnatal phenotypes, here we directly compared brain histogenesis, gene expression, and behavior over the lifespan of three cytogenetically distinct mouse models of DS: Ts1Cje, Ts65Dn and Dp(16)1/Yey...
April 30, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29700907/psychosexual-development-and-satisfaction-with-timing-of-developmental-milestones-among-adult-survivors-of-childhood-cancer
#8
Vicky Lehmann, Madelaine C Keim, Amanda C Ferrante, Randal S Olshefski, Cynthia A Gerhardt
OBJECTIVE: To extend the limited research on psychosexual development among childhood cancer survivors, by not only focusing on the prevalence and age of milestone attainment, but also survivors- attitudes toward the timing of reaching such milestones. METHODS: Adult survivors of childhood cancer (N=90; Mage =29.8, SD=5.2), recruited from a U.S. pediatric institution, completed online surveys indicating whether they had reached five milestones of psychosexual development (i...
April 27, 2018: Psycho-oncology
https://www.readbyqxmd.com/read/29699430/current-evidence-of-peripheral-vestibular-symptoms-secondary-to-otitis-media
#9
Rafael Costa Monsanto, Ana Luiza Papi Kasemodel, Andreza Tomaz, Michael M Paparella, Norma O Penido
BACKGROUND: The association between otitis media and vestibular symptoms has been hypothesized in the past. Thus, in this study, we aimed to critically analyze (based in a systematic review of the literature) whether patients who have otitis media are at greater risk of developing vestibular impairment or not. METHODS: We performed a systematic review of the literature, and identified potentially relevant articles reporting vestibular symptoms and results of vestibular function tests in patients with otitis media through searches of the PubMED, Web of Science, Scopus, and Google Scholar databases...
April 26, 2018: Annals of Medicine
https://www.readbyqxmd.com/read/29696776/the-phenotypic-spectrum-of-xia-gibbs-syndrome
#10
Yunyun Jiang, Michael F Wangler, Amy L McGuire, James R Lupski, Jennifer E Posey, Michael M Khayat, David R Murdock, Luis Sanchez-Pulido, Chris P Ponting, Fan Xia, Jill V Hunter, Qingchang Meng, Mullai Murugan, Richard A Gibbs
Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both the known number of mutation sites and the range of positions within the coding region that were sensitive to alteration...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29686379/maternal-early-pregnancy-obesity-and-related-pregnancy-and-pre-pregnancy-disorders-associations-with-child-developmental-milestones-in-the-prospective-predo-study
#11
Polina Girchenko, Soile Tuovinen, Marius Lahti-Pulkkinen, Jari Lahti, Katri Savolainen, Kati Heinonen, Riikka Pyhälä, Rebecca M Reynolds, Esa Hämäläinen, Pia M Villa, Eero Kajantie, Anu-Katriina Pesonen, Hannele Laivuori, Katri Räikkönen
BACKGROUND/OBJECTIVES: Previous studies have linked maternal pre-pregnancy obesity (BMI ≥30 kg/m2 ) with suboptimal neurodevelopment in her offspring; however, the literature is not entirely consistent. Whether these effects are muddled by maternal self-reports of pre-pregnancy weight and height, or are driven or amplified by the well often comorbid hypertensive and diabetic pregnancy and pre-pregnancy disorders, remains unclear. We examined whether maternal early pregnancy obesity is associated with developmental delay in her offspring, and if the associations are driven or amplified by diabetic and hypertensive pregnancy and pre-pregnancy disorders...
April 23, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29682014/neurosurgical-interventions-for-occipital-encephalocele
#12
Lal Rehman, Ghulam Farooq, Irum Bukhari
Aims and Objectives: The aim of this study is to find the outcome of repair and resection of the occipital encephalocele. Study Design: Case series. Materials and Methods: The clinical data of fifty consecutive occipital encephalocele patients were retrieved from medical records including operative notes, postoperative follow-up visits, and postsurgical complications were noted for analysis from November 2009 to November 2013 at the Department of Neurosurgery, Jinnah Postgraduate Medical Centre, Karachi, Pakistan...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29678068/a-mobile-early-stimulation-program-to-support-children-with-developmental-delays-in-brazil
#13
Raquel da Luz Dias, Kátia Cristina Correa Guimarães Silva, Marcela Raquel de Oliveira Lima, João Guilherme Bezerra Alves, Syed Sibte Raza Abidi
Developmental delay is a deviation development from the normative milestones during the childhood and it may be caused by neurological disorders. Early stimulation is a standardized and simple technique to treat developmental delays in children (aged 0-3 years), allowing them to reach the best development possible and to mitigate neuropsychomotor sequelae. However, the outcomes of the treatment depending on the involvement of the family, to continue the activities at home on a daily basis. To empower and educate parents of children with neurodevelopmental delays to administer standardized early stimulation programs at home, we developed a mobile early stimulation program that provides timely and evidence-based clinical decision support to health professionals and a personalized guidance to parents about how to administer early stimulation to their child at home...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29668024/nutrition-considerations-after-nicu-discharge
#14
Taylor Peters, Cecelia Pompeii-Wolfe
Preterm infants are at high nutrition risk during neonatal intensive care and well after discharge. Nutrition care should be individualized and provided by a multidisciplinary team including a dietitian. Breast milk, the gold standard for feeding, may not meet the increased needs of preterm infants and may require fortification or supplementation. Decisions regarding formula choice and calorie concentration can also be challenging and require individualization based on growth, intake, and individual need. Developmental milestones should be considered during the initation of complementary food...
April 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29668022/follow-up-care-for-high-risk-preterm-infants
#15
Stephannie M B Voller
Preterm infants continue to have complex medical and developmental issues after discharge from the neonatal intensive care unit. Over the past few decades there has been an increase in preterm births and a decrease in preterm mortality. Many infants are referred to follow-up clinics that specialize in neurodevelopmental assessment. Often, a community pediatrician or family practitioner provides both the medical management and observes developmental milestones of the high-risk neonate. Intense medical management, early identification of delay, and referral for developmental services may improve preterm infant outcomes...
April 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29667739/maternal-depressive-symptoms-during-and-after-pregnancy-and-child-developmental-milestones
#16
Soile Tuovinen, Marius Lahti-Pulkkinen, Polina Girchenko, Jari Lipsanen, Jari Lahti, Kati Heinonen, Rebecca M Reynolds, Esa Hämäläinen, Eero Kajantie, Hannele Laivuori, Anu-Katriina Pesonen, Pia M Villa, Katri Räikkönen
BACKGROUND: Maternal depressive symptoms during and after pregnancy predict poorer child neurodevelopment. The effects of timing, symptom severity, and additive influences remain unclear. METHODS: A total of 2,231 mothers of the Prediction and Prevention of Pre-eclampsia and Intrauterine Growth Restriction (PREDO) study completed the Center for Epidemiological Studies Depression Scale biweekly up to 14 times during pregnancy and twice up to 12 months after pregnancy...
April 18, 2018: Depression and Anxiety
https://www.readbyqxmd.com/read/29621909/on-intellectual-and-developmental-disabilities-in-the-united-states-a-historical-perspective
#17
Jordan A Conrad
The history of intellectual and developmental disabilities (IDD) in the United States is, in many ways, a triumphant story reflecting an increasingly progressive attitude acknowledging the equality of all persons. The law now recognizes people with IDD as citizens, possessing an equal right to education, health care, and employment-each of which represents milestone victories. However, this progression was not a linear development but rather a product of periods of growth and decline, backsliding, and hard-won battles across political, cultural, and legal domains...
January 1, 2018: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#18
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29618308/genetics-and-therapies-for-gm2-gangliosidosis
#19
María Begona Cachon-Gonzalez, Eva Zaccariotto, Timothy Martin Cox
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of lysosomal storage diseases. Inherited as a classical autosomal recessive disorder, this global disease of the nervous system induces developmental arrest with regression of attained milestones; neurodegeneration progresses rapidly to cause premature death in young children...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29616236/effects-of-water-quality-sanitation-handwashing-and-nutritional-interventions-on-child-development-in-rural-kenya-wash-benefits-kenya-a-cluster-randomised-controlled-trial
#20
Christine P Stewart, Patricia Kariger, Lia Fernald, Amy J Pickering, Charles D Arnold, Benjamin F Arnold, Alan E Hubbard, Holly N Dentz, Audrie Lin, Theodora J Meerkerk, Erin Milner, Jenna Swarthout, John M Colford, Clair Null
Background: Poor nutrition and infectious diseases can prevent children from reaching their developmental potential. We aimed to assess the effects of improvements in water, sanitation, handwashing, and nutrition on early child development in rural Kenya. Methods: In this cluster-randomised controlled trial, we enrolled pregnant women in their second or third trimester from three counties (Kakamega, Bungoma, and Vihiga) in Kenya's western region, with an average of 12 households per cluster...
April 2018: Lancet Child & Adolescent Health
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