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https://www.readbyqxmd.com/read/29351579/lack-of-methyl-cpg-binding-protein-2-mecp2-affects-cell-fate-refinement-during-embryonic-cortical-development
#1
Clementina Cobolli Gigli, Linda Scaramuzza, Marco De Simone, Riccardo L Rossi, Davide Pozzi, Massimiliano Pagani, Nicoletta Landsberger, Francesco Bedogni
During differentiation, neurons progressively restrict their fate repressing the expression of specific genes. Here we describe the involvement in such developmental steps of the methyl-CpG binding protein 2 (MeCP2), an epigenetic factor that participates to chromatin folding and transcriptional regulation. We previously reported that, due to transcriptional impairments, the maturation of Mecp2 null neurons is delayed. To evaluate whether this could stem from altered progenitors proliferation and differentiation, we investigated whether lack of Mecp2 affects these features both in vitro and in vivo...
January 17, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29351353/the-contributions-of-phonological-awareness-alphabet-knowledge-and-letter-writing-to-name-writing-in-children-with-specific-language-impairment-and-typically-developing-children
#2
Stacey L Pavelko, R Jane Lieberman, Jamie Schwartz, Debbie Hahs-Vaughn
Purpose: Name writing is one aspect of emergent writing that has been used to understand emergent literacy development. Name-writing skills and the relationship of name writing to other emergent literacy skills have not been studied extensively in children with specific language impairment (SLI). Children with SLI consistently demonstrate delays in phonological awareness (PA), alphabet knowledge (AK), print awareness, and emergent writing. The purpose of this study was to examine the contributions of PA, AK, and letter writing to name writing in children with SLI and typically developing (TD) children...
January 19, 2018: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29350401/neurodevelopmental-outcome-in-very-preterm-and-very-low-birthweight-infants-born-over-the-past-decade-a-meta-analytic-review
#3
REVIEW
Aurelie Pascal, Paul Govaert, Ann Oostra, Gunnar Naulaers, Els Ortibus, Christine Van den Broeck
AIM: The purpose of this systematic review was to provide an up-to-date global overview of the separate prevalences of motor and cognitive delays and cerebral palsy (CP) in very preterm (VPT) and very-low-birthweight (VLBW) infants. METHOD: A comprehensive search was conducted across four databases. Cohort studies reporting the prevalence of CP and motor or cognitive outcome from 18 months corrected age until 6 years of VPT or VLBW infants born after 2006 were included...
January 19, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29349289/mixed-neurodevelopmental-and-neurodegenerative-pathology-in-nhe6-null-mouse-model-of-christianson-syndrome
#4
Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F Pescosolido, Brandon S Pruett, Sasmita Mishra, Michael Schmidt, Richard N Jones, Ece D Gamsiz Uzun, Sofia B Lizarraga, Eric M Morrow
Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal microcephaly, and progressive ataxia. Neuronal development is impaired in CS, involving defects in neuronal arborization and synaptogenesis, likely underlying diminished brain growth postnatally. In addition to neurodevelopmental defects, some reports have supported neurodegenerative pathology in CS with age...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29348132/t2-relaxometry-mri-predicts-cerebral-palsy-in-preterm-infants
#5
L-W Chen, S-T Wang, C-C Huang, Y-F Tu, Y-S Tsai
BACKGROUND AND PURPOSE: T2-relaxometry brain MR imaging enables objective measurement of brain maturation based on the water-macromolecule ratio in white matter, but the outcome correlation is not established in preterm infants. Our study aimed to predict neurodevelopment with T2-relaxation values of brain MR imaging among preterm infants. MATERIALS AND METHODS: From January 1, 2012, to May 31, 2015, preterm infants who underwent both T2-relaxometry brain MR imaging and neurodevelopmental follow-up were retrospectively reviewed...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29348115/investigation-of-developmental-delay
#6
Christian de Goede, Martin Myers, Jane Oakey
No abstract text is available yet for this article.
January 18, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#7
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29343805/biallelic-variants-in-kif14-cause-intellectual-disability-with-microcephaly
#8
Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, Damir Musaev, Maha S Zaki, Iman G Mahmoud, Laila Selim, Amera Elbadawy, Shalini N Jhangiani, Zeynep H Coban Akdemir, Tomasz Gambin, Hanne S Sorte, Arvid Heiberg, Jennifer McEvoy-Venneri, Kiely N James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico A Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G Gleeson, James R Lupski, Ehsan Ghayoor Karimiani, Stylianos E Antonarakis
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343804/compound-heterozygous-spata5-variants-in-four-families-and-functional-studies-of-spata5-deficiency
#9
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343077/delayed-onset-of-sleep-in-adolescents-with-pax6-haploinsufficiency
#10
Alyson E Hanish, Joan C Han
OBJECTIVE: PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related phenotypes in adolescents with PAX6+/-...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29342244/gli2-rescues-delays-in-brain-development-induced-by-kif3a-dysfunction
#11
Jia-Long Chen, Chia-Hsiang Chang, Jin-Wu Tsai
The primary cilium in neural stem cells plays distinct roles in different stages during cortical development. Ciliary dysfunctions in human (i.e., ciliopathy) cause developmental defects in multiple organs, including brain developmental delays, which lead to intellectual disabilities and cognitive deficits. However, effective treatment to this devastating developmental disorder is still lacking. Here, we first investigated the effects of ciliopathy on neural stem cells by knocking down Kif3a, a kinesin II motor required for ciliogenesis, in the neurogenic stage of cortical development by in utero electroporation of mouse embryos...
January 12, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29341395/health-of-southern-tasmanian-4-to-6-year-old-children-in-out-of-home-care-compared-to-peers
#12
Marie Rauter, Anagha Jayakar, Tom Clemens, Zaharenia Galanos, Louise Newbery, Andrew Whelan
AIM: To compare the health of 4- to 6-year-old children in out-of-home care (OOHC) in Southern Tasmania with their peers. METHODS: Demographic and health data collection and prospective health assessment of all 4- to 6-year olds in OOHC in Southern Tasmania on 30 August 2011 was undertaken. Data were compared to Tasmanian and/or Australian peers. RESULTS: A total of 109 of 129 children aged 4 to 6 years were included in the study. Time in OOHC was on average 38 (range 0-76) months...
January 17, 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29340613/biomass-increase-under-zinc-deficiency-caused-by-delay-of-early-flowering-in-arabidopsis
#13
Xiaochao Chen, Uwe Ludewig
Plants generally produce more biomass when all nutrients are available in sufficient amounts. In addition to environmental constraints, genetic and developmental factors, such as the transition from vegetative to reproductive growth, restrict maximal yield. Here we report the peculiar observation that a subset of Arabidopsis thaliana accessions produced larger shoot rosette diameters when grown in zinc (Zn)-deficient conditions, compared with Zn-sufficient conditions. This was associated with early flowering that restricted the leaf length under Zn sufficiency...
January 11, 2018: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29339779/novel-recessive-mutations-in-msto1-cause-cerebellar-atrophy-with-pigmentary-retinopathy
#14
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29339342/transgenerational-impairments-of-reproduction-and-development-of-the-marine-invertebrate-crepidula-onyx-resulted-from-long-term-dietary-exposure-of-2-2-4-4-tetrabromodiphenyl-ether-bde-47
#15
Beverly H K Po, Jill M Y Chiu
Polybrominated diphenyl ethers have become ubiquitous in the environment and elevated concentrations have often been found in marine organisms. Using the gastropod Crepidula onyx as a study model, this multigenerational study sets out to test the hypotheses that 1) parental dietary exposure to environmentally realistic levels of 2,2',4,4'-tetrabrominated diphenyl ether (BDE-47) would lead to transgenerational impairments on fitness traits of marine invertebrates, and 2) the organisms might develop adaptation/acclimation after exposure for one or more generations...
January 12, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29336084/age-onset-of-offending-and-serious-mental-illness-among-forensic-psychiatric-patients-a-latent-profile-analysis
#16
Stephanie R Penney, Aaron Prosser, Alexander I F Simpson
BACKGROUND: Developmental typologies regarding age of onset of violence and offending have not routinely taken account of the role of serious mental illness (SMI), and whether age of onset of offending in relation to onset of illness impacts on the manifestation of offending over the life course. AIMS: To test whether forensic psychiatric patients can be classified according to age of onset of SMI and offending, and, if so, whether subtypes differ by sex. METHODS: Details of all 511 patients enrolled into a large forensic mental health service in Ontario, Canada, in 2011 or 2012 were collected from records...
January 16, 2018: Criminal Behaviour and Mental Health: CBMH
https://www.readbyqxmd.com/read/29335528/exd2-governs-germ-stem-cell-homeostasis-and-lifespan-by-promoting-mitoribosome-integrity-and-translation
#17
Joana Silva, Suvi Aivio, Philip A Knobel, Laura J Bailey, Andreu Casali, Maria Vinaixa, Isabel Garcia-Cao, Étienne Coyaud, Alexis A Jourdain, Pablo Pérez-Ferreros, Ana M Rojas, Albert Antolin-Fontes, Sara Samino-Gené, Brian Raught, Acaimo González-Reyes, Lluís Ribas de Pouplana, Aidan J Doherty, Oscar Yanes, Travis H Stracker
Mitochondria are subcellular organelles that are critical for meeting the bioenergetic and biosynthetic needs of the cell. Mitochondrial function relies on genes and RNA species encoded both in the nucleus and mitochondria, and on their coordinated translation, import and respiratory complex assembly. Here, we characterize EXD2 (exonuclease 3'-5' domain-containing 2), a nuclear-encoded gene, and show that it is targeted to the mitochondria and prevents the aberrant association of messenger RNAs with the mitochondrial ribosome...
January 15, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29335451/a-hot-spot-mutation-in-cdc42-p-tyr64cys-and-novel-phenotypes-in-the-third-patient-with-takenouchi-kosaki-syndrome
#18
Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto, Kanako Morifuji, Hirotake Sawada, Toyoki Nishimura, Hiroyuki Nunoi, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic facial features. Recently, a heterozygous de novo mutation (p.Tyr64Cys) in the CDC42 gene, which encodes a key small GTP-binding protein of the Rho-subfamily, was identified in two unrelated patients with TKS. We herein report a third patient with TKS who had the same heterozygous CDC42 mutation. The phenotype of the patient was very similar to those of the two previously reported patients with TKS; however, she also demonstrated novel clinical manifestations, such as congenital hypothyroidism and immunological disturbance...
January 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29335083/-clinical-and-cytogenetic-study-in-a-child-with-de-novo-chromosome-9-abnormality
#19
Bi-Yu Lu, Jian-Qiang Tan, De-Jian Yuan, Wen-Dan Wang, Xiao-Ni Wei, Ti-Zhen Yan, Ren Cai
This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29331690/effect-of-depressive-symptoms-on-the-evolution-of-neuropsychological-functions-over-the-course-of-adolescence
#20
Mohammad H Afzali, Maeve Oleary-Barrett, Jean R Séguin, Patricia Conrod
INTRODUCTION: Comprehensive understanding of the association between depression and neuropsychological functioning over the course of adolescence requires developmentally sensitive assessment through longitudinal data. The aim of current study is to examine the concurrent and subsequent effects of depressive symptoms on the initial level and evolution of four neuropsychological functioning domains (i.e., spatial working memory, delayed recall memory, perceptual reasoning, and inhibitory control)...
December 22, 2017: Journal of Affective Disorders
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