keyword
MENU ▼
Read by QxMD icon Read
search

Global developmental delay

keyword
https://www.readbyqxmd.com/read/29780943/longitudinal-ophthalmic-findings-in-a-child-with-helsmoortel-van-der-aa-syndrome
#1
Michael J Gale, Hope E Titus, Gareth A Harman, Talal Alabduljalil, Anna Dennis, Jenny L Wilson, David M Koeller, Erika Finanger, Peter A Blasco, Pei-Wen Chiang, Daniel J Karr, Paul Yang
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29765956/transcriptomic-profiling-of-zebrafish-hair-cells-using-ribotag
#2
Maggie S Matern, Alisha Beirl, Yoko Ogawa, Yang Song, Nikhil Paladugu, Katie S Kindt, Ronna Hertzano
The zebrafish inner ear organs and lateral line neuromasts are comprised of a variety of cell types, including mechanosensitive hair cells. Zebrafish hair cells are evolutionarily homologous to mammalian hair cells, and have been particularly useful for studying normal hair cell development and function. However, the relative scarcity of hair cells within these complex organs, as well as the difficulty of fine dissection at early developmental time points, makes hair cell-specific gene expression profiling technically challenging...
2018: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29736960/kif16b-is-a-candidate-gene-for-a-novel-autosomal-recessive-intellectual-disability-syndrome
#3
Saud Alsahli, Stefan T Arold, Ahmed Alfares, Bader Alhaddad, Mohammed Al Balwi, Erik-Jan Kamsteeg, Waleed Al-Twaijri, Majid Alfadhel
Intellectual disability (ID) and global developmental delay are closely related; the latter is reserved for children under the age of 5 years as it is challenging to reliably assess clinical severity in this population. ID is a common condition, with up to 1%-3% of the population being affected and leading to a huge social and economic impact. ID is attributed to genetic abnormalities most of the time; however, the exact role of genetic involvement in ID is yet to be determined. Whole exome sequencing (WES) has gained popularity in the workup for ID, and multiple studies have been published examining the diagnostic yield in identification of the disease-causing variant (16%-55%), with the genetic involvement increasing as intelligence quotient decreases...
May 7, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29736762/developmental-transcriptome-analysis-of-floral-transition-in-rosa-odorata-var-gigantea
#4
Xuelian Guo, Chao Yu, Le Luo, Huihua Wan, Ni Zhen, Yushu Li, Tangren Cheng, Jia Wang, Huitang Pan, Qixiang Zhang
Expression analyses revealed that floral transition of Rosa odorata var. gigantea is mainly regulated by VRN1, COLs, DELLA and KSN, with contributions by the effects of phytohormone and starch metabolism. Seasonal plants utilize changing environmental and developmental cues to control the transition from vegetative growth to flowering at the correct time of year. This study investigated global gene expression profiles at different developmental stages of Rosa odorata var. gigantea by RNA-sequencing, combined with phenotypic characterization and physiological changes...
May 7, 2018: Plant Molecular Biology
https://www.readbyqxmd.com/read/29735526/defects-in-the-neuroendocrine-axis-contribute-to-global-development-delay-in-a-drosophila-model-of-ngly1-deficiency
#5
Tamy Portillo Rodriguez, Joshua D Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O Perlstein
N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms. Here we conducted a natural history study and chemical-modifier screen on the Drosophila melanogaster NGLY1 homolog, Pngl. We generated a new fly model of NGLY1 Deficiency, engineered with a nonsense mutation in Pngl at codon 420 that results in a truncation of the C-terminal carbohydrate-binding PAW domain. Homozygous mutant animals exhibit global development delay, pupal lethality and small body size as adults...
May 7, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29726122/interstitial-microdeletion-of-the-1p34-3p34-2-region
#6
Joseph E Jacher, Jeffrey W Innis
BACKGROUND: Interstitial microdeletions of chromosome 1p34.3p34.2 are rare, but are continuing to be identified by the use of chromosome microarray. There have been fewer than 10 individuals identified who have deletions of the 1p34.3p34.2 region; all of these previously described individuals have deletions of the AGO1, AGO3, GRIK3, SLC2A1, or RIMS3 genes. Haploinsufficiency of these genes has been associated with neurodevelopmental delays. METHODS: Chromosome microarray, quantitative PCR, and fluorescence in situ hybridization were performed with DNA extracted from peripheral blood...
May 3, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29722846/high-dose-vitamin-d3-in-the-treatment-of-severe-acute-malnutrition-a-multicenter-double-blind-randomized-controlled-trial
#7
Javeria Saleem, Rubeena Zakar, Muhammad Z Zakar, Mulugeta Belay, Marion Rowe, Peter M Timms, Robert Scragg, Adrian R Martineau
Background: Vitamin D deficiency is common in children with severe acute malnutrition, in whom it is associated with severe wasting. Ready-to-use therapeutic food (the standard treatment) contains modest amounts of vitamin D that do not reliably correct deficiency. Objective: The aim of this study was to determine whether high-dose oral vitamin D3 enhances weight gain and development in children with uncomplicated severe acute malnutrition. Design: We conducted a randomized placebo-controlled trial of high-dose vitamin D3 supplementation in children aged 6-58 mo with uncomplicated severe acute malnutrition in Pakistan...
May 1, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29722482/five-year-neurodevelopment-outcomes-of-perinatally-hiv-infected-children-on-early-limited-or-deferred-continuous-antiretroviral-therapy
#8
Barbara Laughton, Morna Cornell, Martin Kidd, Priscilla Estelle Springer, Els Françoise Marie-Thérèse Dobbels, Anita Janse Van Rensburg, Kennedy Otwombe, Abdel Babiker, Diana M Gibb, Avy Violari, Mariana Kruger, Mark Fredric Cotton
INTRODUCTION: Early antiretroviral therapy (ART) has improved neurodevelopmental outcomes of HIV-infected (HIV-positive) children; however, little is known about the longer term outcomes in infants commencing early ART or whether temporary ART interruption might have long-term consequences. In the children with HIV early antiretroviral treatment (CHER) trial, HIV-infected infants ≤12 weeks of age with CD4 ≥25% were randomized to deferred ART (ART-Def); immediate time-limited ART for 40 weeks (ART-40W) or 96 weeks (ART-96W)...
May 2018: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/29707408/a-de-novo-xp11-23-duplication-in-a-girl-with-a-severe-phenotype-expanding-the-clinical-spectrum
#9
Pinar Arican, Dilek Cavusoglu, Pinar Gencpinar, Berk Ozyilmaz, Taha Resid Ozdemir, Nihal Olgac Dundar
The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22-p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint ( SSX ) genes: SSX1 , SSX3 , SSX4 , and SSX9 ...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29696617/-clinical-and-neuropsychological-characteristics-in-congenital-central-hypoventilation-syndrome
#10
R Seijas-Gomez, B Esteso-Orduna, J Melero-Llorente, M C Fournier-Del Castillo
INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) syndrome is a rare disease caused by mutations in the PHOX2B gene. Patients show a reduced response to hypercapnia and hypoxia accompanied by diffuse disturbances of the autonomic nervous system and occasionaly also disturbances in neuroimaging. A specific neuropsychological profile has not been described in children and adolescents with CCHS. CASE REPORTS: We describe three cases (aged between 4 and 19 years) with different profiles of affectation in cognitive and functionality...
May 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29695797/a-biallelic-36-bp-insertion-in-pibf1-is-associated-with-joubert-syndrome
#11
Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M Girisha
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome...
April 25, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29681108/functional-mrna-analysis-reveals-aberrant-splicing-caused-by-novel-intronic-mutation-in-wdr45-in-nbia-patient
#12
Josh Willoughby, Celia Duff-Farrier, Archana Desurkar, Manju Kurian, Ashok Raghavan, Meena Balasubramanian
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681094/a-neurodegenerative-mitochondrial-disease-phenotype-due-to-biallelic-loss-of-function-variants-in-pnpla8-encoding-calcium-independent-phospholipase-a2%C3%AE
#13
Anju Shukla, Russell P Saneto, Malavika Hebbar, Ghayda Mirzaa, Katta M Girisha
Animal studies have demonstrated the critical roles of the patatin-like protein family plays in cellular growth, lipid homeostasis, and second messenger signaling the nervous system. Of the nine known calcium-independent phospholipase A2γ, only PNPLA2, PNLPA6, PNPLA9 and most recently a single patient with PNPLA8 are associated with mitochondrial-related neurodegeneration. Using whole exome sequencing, we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in PNPLA8...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29672338/effects-of-a-care-coordination-intervention-with-children-with-neurodevelopmental-disabilities-and-their-families
#14
Jeanne W McAllister, Rebecca McNally Keehn, Rylin Rodgers, Philani Brian Mpofu, Patrick O Monahan, Thomas M Lock
: Care coordination is integral to improving the health of children and families. Using a Shared Plan of Care (SPoC) as a care coordination activity is recommended, but related research on outcomes in pediatric populations with complex medical conditions is scarce. OBJECTIVE: This study explores family outcomes associated with implementation of a care coordination/SPoC intervention with a population of children with neurodevelopmental disabilities and their families. METHODS: Children aged 2 to 10 years with a neurodevelopmental disability (autism spectrum disorder: 60...
April 17, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29663647/novel-de-novo-pathogenic-variant-in-the-nr2f2-gene-in-a-boy-with-congenital-heart-defect-and-dysmorphic-features
#15
Jariya Upadia, Patrick R Gonzales, Nathaniel H Robin
The NR2F2 gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11-month-old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the NR2F2 gene by whole exome sequencing...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#16
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656858/a-recurrent-de-novo-pacs2-heterozygous-missense-variant-causes-neonatal-onset-developmental-epileptic-encephalopathy-facial-dysmorphism-and-cerebellar-dysgenesis
#17
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A van der Zwaag, Emilia K Bijlsma, Bryan L Krock, E Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R F Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J Lunsing, Lydie Burglen, Gaetan Lesca, Megan T Cho, Lacey A Smith, Beth R Sheidley, Christelle Moufawad El Achkar, Phillip L Pearl, Annapurna Poduri, Cara M Skraban, Jennifer Tarpinian, Addie I Nesbitt, Dietje E Fransen van de Putte, Claudia A L Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A Sweetser, Jessica L Waxler, Klaas J Wierenga, Jean Donadieu, Vinodh Narayanan, Keri M Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H Lelieveld, Janneke Schuurs-Hoeijmakers, Han G Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29649939/participation-patterns-of-preschool-children-with-intellectual-developmental-disabilities
#18
Yafit Gilboa, Reut Fuchs
We aim to examine the pattern of participation of children with intellectual developmental disabilities (IDD) or global developmental delay (GDD) in comparison with typically developing preschoolers. In addition, to identify environmental and personal factors associated with their participation, 20 children with mild to moderate GDD or IDD, and 24 age- and gender-matched controls, aged 3 to 6 years, were assessed using the Assessment of Preschool Children's Participation and the Environmental Restriction Questionnaire...
April 1, 2018: OTJR: Occupation, Participation and Health
https://www.readbyqxmd.com/read/29645068/-frequency-semiology-and-prognosis-of-benign-infantile-epilepsy
#19
J Ramos-Lizana, G Martinez-Espinosa, M I Rodriguez-Lucenilla, J Aguirre-Rodriguez, P Aguilera-Lopez
INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29618507/further-delineation-of-the-mecp2-duplication-syndrome-phenotype-in-59-french-male-patients-with-a-particular-focus-on-morphological-and-neurological-features
#20
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication...
April 4, 2018: Journal of Medical Genetics
keyword
keyword
26283
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"