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https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#1
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
November 25, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27909585/developmental-idealism-body-weight-and-shape-and-marriage-entry-in-transitional-china
#2
Hongwei Xu
New trends toward later and less marriage are emerging in post-reform China. Previous research has examined the changing individual-level socioeconomic and demographic characteristics shaping marriage entry in Chinese adults. Employing a cultural model known as developmental idealism (DI), this study argues that a new worldview specifying an ideal body type has become popular in the West and that this new worldview has been exported to China. This new part of the DI package is likely stratified by gender, has a stronger impact on women than on men, and has likely penetrated urban areas more than rural areas...
April 2016: Chinese Journal of Sociology
https://www.readbyqxmd.com/read/27908662/too-cool-symbolic-but-not-iconic-stimuli-impair-4-year-old-children-s-performance-on-the-delay-of-gratification-choice-paradigm
#3
Lisa G Labuschagne, Taylor-Jane Cox, Kaitlyn Brown, Damian Scarf
A common method of improving the performance of children and non-human primates on the delay-of-gratification maintenance paradigm and measures of executive function (e.g., the Less is More task) is to represent the rewards subjects can acquire symbolically. This method, known as symbolic distancing, is thought to lower activation of the "hot" impulsive system and allow the "cool" rational system to dominate processing. Surprisingly, in contrast to its impact on the measures noted above, recent developmental and comparative studies have reported that symbolic distancing has a null or negative impact on performance on the delay-of-gratification choice paradigm...
November 28, 2016: Behavioural Processes
https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#4
Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
BACKGROUND: Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy. METHODS: Twenty-one consecutively presenting patients with K-ATP CHI with dominantly and recessively inherited mutations in ABCC8/KCNJ11 were selected in a specialised CHI treatment centre to review treatment outcomes...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27905493/increased-temperature-delays-the-late-season-phenology-of-multivoltine-insect
#5
Adam Glazaczow, David Orwin, Michał Bogdziewicz
We analyzed the impact of increased water temperature on the late-season phenology of the mayfly (Baetis liebenauae). The River Gwda, unlike two other examined rivers (controls), has reservoirs along its length and thus, higher water temperature. Elevated water temperature prolonged summer diapause of the mayfly and shifted its life cycle to the later autumn: the last generation of mayflies started development later in the Gwda than in the control rivers. This translated into terrestrial stages (subimagos) of the insect being more abundant at the water surface in the late autumn in the Gwda river than in the control rivers...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27904971/mutations-in-slc5a6-associated-with-brain-immune-bone-and-intestinal-dysfunction-in-a-young-child
#6
Veedamali S Subramanian, Alexandru R Constantinescu, Paul J Benke, Hamid M Said
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the SLC5A6 gene in a child using whole genome-scanning. At 15 months of age, the child showed failure to thrive, microcephaly and brain changes on MRI, cerebral palsy and developmental delay, variable immunodeficiency, and severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, and pathologic bone fractures...
November 30, 2016: Human Genetics
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#7
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#8
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27900779/mosaic-nras-q61r-mutation-in-a-child-with-giant-congenital-melanocytic-naevus-epidermal-naevus-syndrome-and-hypophosphataemic-rickets
#9
R Ramesh, N Shaw, E K Miles, B Richard, I Colmenero, C Moss
The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and elevated fibroblast growth factor 23 levels is known as cutaneous-skeletal hypophosphataemia syndrome (CSHS), and can be caused by somatic activating mutations in RAS genes. We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids. An activating mutation Q61R in the NRAS gene was found in affected skin and ocular tissue but not blood, implying that the disparate manifestations are due to a multilineage activating mutation (mosaic RASopathy)...
November 30, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27900362/de-novo-phip-predicted-deleterious-variants-are-associated-with-developmental-delay-intellectual-disability-obesity-and-dysmorphic-features
#10
Emily Webster, Megan T Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea Lewis, Kyle Retterer, Jane Juusola, Wendy K Chung
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP, have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27900361/kbg-syndrome-involving-a-single-nucleotide-duplication-in-ankrd11
#11
Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J Lyon
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27900360/scn8a-mutation-in-a-child-presenting-with-seizures-and-developmental-delays
#12
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899082/interventions-to-improve-gross-motor-performance-in-children-with-neurodevelopmental-disorders-a-meta-analysis
#13
Barbara R Lucas, Elizabeth J Elliott, Sarah Coggan, Rafael Z Pinto, Tracy Jirikowic, Sarah Westcott McCoy, Jane Latimer
BACKGROUND: Gross motor skills are fundamental to childhood development. The effectiveness of current physical therapy options for children with mild to moderate gross motor disorders is unknown. The aim of this study was to systematically review the literature to investigate the effectiveness of conservative interventions to improve gross motor performance in children with a range of neurodevelopmental disorders. METHODS: A systematic review with meta-analysis was conducted...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#14
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27895691/prognostic-factors-of-neurological-outcomes-in-late-preterm-and-term-infants-with-perinatal-asphyxia
#15
Sun Young Seo, Gyu Hong Shim, Myoung Jae Chey, Su Jeong You
PURPOSE: This study aimed to identify prognostic factors of neurological outcomes, including developmental delay, cerebral palsy and epilepsy in late-preterm and term infants with perinatal asphyxia. METHODS: All late-preterm and term infants with perinatal asphyxia or hypoxic-ischemic insults who admitted the neonatal intensive care unit of Inje University Sanggye Paik Hospital between 2006 and 2014 and were followed up for at least 2 years were included in this retrospective study...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27892813/thinking-about-social-and-nonsocial-alternative-possibilities-in-premature-preschoolers
#16
María Dolores Roldán-Tapia, Sergio Moreno-Ríos, Rosa Cánovas-López
INTRODUCTION: Prematurely born preschoolers show developmental cognitive delay compared to full-term children. There are important neurological networks developing at preschool age related to perspective taking about the attribution of belief and to deduction with contrary-to-fact situations. Other deductive abilities may be completed during that period. METHOD: A group of very prematurely born children (N = 35) aged between 4 and 5 years was compared with a control group of children born at full term (N = 35)...
November 28, 2016: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/27891785/editorial-brain-malformation-surveillance-in-the-zika-era
#17
EDITORIAL
Edwin Trevathan
The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891590/bi-allelic-iars-mutations-in-a-child-with-intra-uterine-growth-retardation-neonatal-cholestasis-and-mild-developmental-delay
#18
Naama Orenstein, Karin Weiss, Stephanie N Oprescu, Rivka Shapira, Dvora Kidron, Lina Vanagaite-Basel, Anthony Antonellis, Maximilian Muenke
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27891155/rabson-mendenhall-syndrome-caused-by-a-novel-missense-mutation
#19
Krishnapradeep Sinnarajah, M B K C Dayasiri, N D W Dissanayake, S T Kudagammana, A H H M Jayaweera
BACKGROUND: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach. CASE PRESENTATION: An 11 year old boy presented with polyuria and polydipsia...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#20
J Domínguez-Carral, F J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 24, 2016: European Journal of Medical Genetics
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