keyword
MENU ▼
Read by QxMD icon Read
search

neurodevelopmental disabilities

keyword
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#1
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29765884/visual-evoked-potential-in-children-with-developmental-disorders-correlation-with-neurodevelopmental-outcomes
#2
JaYoung Kim, In Young Sung, Eun Jae Ko, Minji Jung
Objective: To investigate the neurodevelopmental outcomes in children with developmental disorder according to visual evoked potential (VEP) results. Methods: We retrospectively analyzed children who visited our Department of Pediatric Rehabilitation Medicine with a chief complaint of developmental disability from January 2001 to July 2015. Of the 549 medical records reviewed, 322 children younger than 42 months who underwent both Bayley Scales of Infant and Toddler Development second edition (BSID-II) and VEP studies were enrolled...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29765186/effect-of-the-frequency-of-therapy-on-the-performance-of-activities-of-daily-living-in-children-with-cerebral-palsy
#3
Eun-Young Park, Eun-Joo Kim
[Purpose] This study investigated the frequency effect of physical and occupational therapy on activities of daily living performance in children with cerebral palsy. [Subjects and Methods] A total of 162 children with cerebral palsy who attended a convalescent or rehabilitation center for disabled individuals or a special school for physical disabilities in South Korea participated in this study. The Pediatric Evaluation Disability Inventory was used to collect data on activities of daily living performance according to physical therapy frequency based on neurodevelopmental therapy for 1 year...
May 2018: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29761117/genomic-analysis-identifies-masqueraders-of-full-term-cerebral-palsy
#4
Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Objective: Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested genetic diseases can be misdiagnosed as cerebral palsy. We hypothesized that two simple criteria, that is, full-term births and nonspecific brain MRI findings, are keys to extracting masqueraders among cerebral palsy cases due to the following: (1) preterm infants are susceptible to multiple environmental factors and therefore demonstrate an increased risk of cerebral palsy and (2) brain MRI assessment is essential for excluding environmental causes and other particular disorders...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29758264/anti-il17-treatment-ameliorates-down-syndrome-phenotypes-in-mice
#5
Noemí Rueda, Verónica Vidal, Susana García-Cerro, Josep Oriol Narcís, María Llorens-Martín, Andrea Corrales, Sara Lantigua, Marcos Iglesias, Jesús Merino, Ramón Merino, Carmen Martínez-Cué
Down syndrome (DS) is characterized by structural and functional anomalies that are present prenatally and that lead to intellectual disabilities. Later in life, the cognitive abilities of DS individuals progressively deteriorate due to the development of Alzheimer's disease (AD)-associated neuropathology (i.e., β-amyloid (Aβ) plaques, neurofibrillary tangles (NFTs), neurodegeneration, synaptic pathology, neuroinflammation and increased oxidative stress). Increasing evidence has shown that among these pathological processes, neuroinflammation plays a predominant role in AD etiopathology...
May 11, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29753921/de-novo-loss-of-function-variants-of-ash1l-are-associated-with-an-emergent-neurodevelopmental-disorder
#6
Wei Shen, Patti Krautscheid, Audrey M Rutz, Pinar Bayrak-Toydemir, Sarah L Dugan
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#7
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29752575/expression-pattern-of-cdkl5-during-zebrafish-early-development-implications-for-use-as-model-for-atypical-rett-syndrome
#8
Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancela
Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease...
May 11, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29748952/disentangling-tourette-syndrome-heterogeneity-through-hierarchical-ascendant-clustering
#9
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/29744704/autism-and-the-university-experience-narratives-from-students-with-neurodevelopmental-disorders
#10
Yasamine Bolourian, Sasha M Zeedyk, Jan Blacher
Relatively limited research has been devoted to understanding the postsecondary experience from the students' perspectives. In the current study, individual interviews were conducted with university students with autism spectrum disorder (n = 13) and students with Attention Deficit/Hyperactivity Disorder (n = 18) to investigate likely factors impeding meaningful postsecondary experiences. Through an iterative coding process, nine themes were identified, and direct narratives exemplifying each are included...
May 9, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29740950/the-first-reported-case-of-an-inherited-pathogenic-chd2-variant-in-a-clinically-affected-mother-and-daughter
#11
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick
Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to date have been de novo, preventing the study of intrafamilial phenotypic heterogeneity and creating ambiguity regarding recurrence risk, penetrance, and expressivity...
May 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29740699/de-novo-mutations-in-med13-a-component-of-the-mediator-complex-are-associated-with-a-novel-neurodevelopmental-disorder
#12
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, J Nicholas Cochran, E Martina Bebin, Emilia K Bijlsma, Claudia A L Ruivenkamp, Paulien Terhal, Marleen E H Simon, Rosemarie Smith, Jane A Hurst, Heather McLaughlin, Richard Person, Amy Crunk, Michael F Wangler, Haley Streff, Joseph D Symonds, Sameer M Zuberi, Katherine S Elliott, Victoria R Sanders, Abigail Masunga, Robert J Hopkin, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Rolph Pfundt, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Gregory M Cooper
Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders...
May 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29739263/sleep-outcomes-for-parents-of-children-with-neurodevelopmental-disabilities-a-systematic-review
#13
Samantha K Micsinszki, Marilyn Ballantyne, Kristin Cleverley, Pamela Green, Robyn Stremler
Parents of children with Neurodevelopmental Disabilities (NDDs) are at risk of sleep loss. No comprehensive systematic reviews examining parental sleep outcomes in caregivers of children with NDDs exist. A systematic search was conducted between June and August 2016 examining sleep quantity, quality, sleepiness, and fatigue outcomes of caregivers of children with NDDs. Of 7,534 citations retrieved, 33 met eligibility criteria. Most studies ( n = 27) were cross-sectional, included a range of NDDs and were of "poor" ( n = 14) or "fair" ( n = 17) quality...
May 1, 2018: Journal of Family Nursing
https://www.readbyqxmd.com/read/29732456/a-quality-initiative-for-optimal-therapeutic-hypothermia-during-transport-for-neonates-with-neonatal-encephalopathy
#14
Stephanie L Bourque, Stephanie A Meier, Claire Palmer, Diane L Melara, Theresa R Grover, Cassidy A Delaney
Introduction: Neuroprotection with therapeutic hypothermia (TH) is standard of care for neonatal encephalopathy (NE) and decreases death and neurodevelopmental disability. TH initiated shortly after birth insult results in greater neuroprotection compared with delayed initiation. Methods: Quality improvement methodology was used to improve temperature control during transport to a level IV neonatal intensive care unit. We included neonates with NE transported to a single institution for TH from 2010 to 2016...
March 2018: Pediatric quality & safety
https://www.readbyqxmd.com/read/29726122/interstitial-microdeletion-of-the-1p34-3p34-2-region
#15
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/29726010/lower-versus-higher-oxygen-concentrations-titrated-to-target-oxygen-saturations-during-resuscitation-of-preterm-infants-at-birth
#16
REVIEW
Kei Lui, Lisa J Jones, Jann P Foster, Peter G Davis, See Kwee Ching, Ju Lee Oei, David A Osborn
BACKGROUND: Initial resuscitation with air is well tolerated by most infants born at term. However, the optimal fractional inspired oxygen concentration (FiO2 - proportion of the breathed air that is oxygen) targeted to oxygen saturation (SpO2 - an estimate of the amount of oxygen in the blood) for infants born preterm is unclear. OBJECTIVES: To determine whether lower or higher initial oxygen concentrations, when titrated according to oxygen saturation targets during the resuscitation of preterm infants at birth, lead to improved short- and long-term mortality and morbidity...
May 4, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#17
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29719672/abnormal-coherence-and-sleep-composition-in-children-with-angelman-syndrome-a-retrospective-eeg-study
#18
Hanna den Bakker, Michael S Sidorov, Zheng Fan, David J Lee, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29719671/delineation-of-the-genetic-and-clinical-spectrum-of-phelan-mcdermid-syndrome-caused-by-shank3-point-mutations
#19
Silvia De Rubeis, Paige M Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria Del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A Ting Wang, J Lloyd Holder, Catalina Betancur, Joseph D Buxbaum, Alexander Kolevzon
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29717186/novel-nexmif-pathogenic-variant-in-a-boy-with-severe-autistic-features-intellectual-disability-and-epilepsy-and-his-mildly-affected-mother
#20
Nelle Lambert, Corinne Dauve, Emmanuelle Ranza, Periklis Makrythanasis, Federico Santoni, Frédérique Sloan-Béna, Stefania Gimelli, Jean-Louis Blouin, Michel Guipponi, Armand Bottani, Stylianos E Antonarakis, Markus M Kosel, Joel Fluss, Ariane Paoloni-Giacobino
Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood...
May 1, 2018: Journal of Human Genetics
keyword
keyword
57831
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"