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Cognitive Speech Delay

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https://www.readbyqxmd.com/read/29785989/cerebral-visual-impairment-in-children-causes-and-associated-ophthalmological-problems
#1
Niranjan Pehere, Pratik Chougule, Gordon N Dutton
Purpose: The aim of this study is to identify common causes, associated ophthalmological abnormalities, and systemic comorbidities in children in Andhra Pradesh, India, with cerebral visual impairment (CVI). Methods: A retrospective review of case records of all children aged <16 years with diagnosis of CVI seen between January 2016 and December 2016 was carried out. Data were collected for their age, gender, cause of CVI, refraction, accommodation, anterior and posterior segment examination findings, and systemic problems...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#2
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29744787/ada-deficiency-evaluation-of-the-clinical-and-laboratory-features-and-the-outcome
#3
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT)...
May 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29719382/can-cochlear-implantation-improve-neurocognition-in-the-aging-population
#4
Christiane Völter, Lisa Götze, Stefan Dazert, Michael Falkenstein, Jan Peter Thomas
Introduction: The relationship between cognition and the ability to hear is well known. Due to changes in demographics, the number of people with sensorineural hearing loss and cognitive impairment is increasing. The aim of this study was to identify the impact of hearing rehabilitation via cochlear implantation on cognitive decline among the aging population. Patients and methods: This prospective study included 60 subjects aged between 50 and 84 years (mean 65...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29677689/neural-and-behavioral-changes-after-the-use-of-hearing-aids
#5
Hanin Karawani, Kimberly A Jenkins, Samira Anderson
OBJECTIVE: Individuals with age-related hearing loss (ARHL) can restore some loss of the auditory function with the use of hearing aids (HAs). However, what remains unknown are the physiological mechanisms that underlie how the brain changes with exposure to amplified sounds though the use of HAs. We aimed to examine behavioral and physiological changes induced by HAs. METHODS: Thirty-five older-adults with moderate ARHL with no history of hearing aid use were fit with HAs tested in aided and unaided conditions, and divided into experimental and control groups...
April 7, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29652302/-results-of-a-multicenter-study-on-the-efficacy-of-cortexin-in-treatment-of-cognitive-dysfunction-in-children
#6
V P Zykov, E B Serebrennikova, T N Panchenko, Ya B Sycheva, S N Presnyakova, E L Mazur, M N Salova, E S Golubeva, S K Khromova
AIM: To study the efficacy and tolerability of cortexin in the treatment of cognitive dysfunction in children. MATERIAL AND METHODS: The study included 635 patients, aged 3-7 years. Patients were divided into 4 clinical groups: group 1 (269 children with attention deficit hyperactivity disorder (ADHD)), group 2 (215 children with speech delay), group 3 (82 patients with the consequences of a perinatal lesion of the central nervous system), group 4 (69 patients with asthenic/neurotic syndrome)...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29651362/permanent-unilateral-hearing-loss-uhl-and-childhood-development
#7
REVIEW
Judith E C Lieu
Purpose of Review: The aim of this study is to summarize the consequences of permanent unilateral hearing loss (UHL) on the development of children as documented in the recent literature. Recent Findings: Congenital and early-identified UHL places young children at risk for delays in speech-language development. School-aged children with UHL score lower on standardized tests of language and cognition and need increased assistance in school for educational and behavioral issues than siblings with normal hearing, and report lower hearing-related quality of life, similar to children with bilateral hearing loss (HL)...
2018: Current Otorhinolaryngology Reports
https://www.readbyqxmd.com/read/29610177/nalcn-dysfunction-as-a-cause-of-disordered-respiratory-rhythm-with-central-apnea
#8
Jamie Campbell, David R FitzPatrick, Tara Azam, Neil A Gibson, Laura Somerville, Shelagh K Joss, Don S Urquhart
The sodium leak channel nonselective protein (NALCN) is a regulator of the pacemaker neurons that are responsible for rhythmic behavior (including respiration), maintaining the resting membrane potential, and are required for action potential production. NALCN -null mice show early death associated with disrupted respiratory rhythms, characterized by frequent and profound apneas. We report 3 children (2 siblings) with compound heterozygous mutations in NALCN associated with developmental impairment, hypotonia, and central sleep-disordered breathing causing apneas...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29588950/decreased-functional-connectivity-within-a-language-subnetwork-in-benign-epilepsy-with-centrotemporal-spikes
#9
Colm J McGinnity, Anna B Smith, Siti N Yaakub, Sofia Weidenbach Gerbase, Anya Gammerman, Adam L Tyson, Tiffany K Bell, Marwa Elmasri, Gareth J Barker, Mark P Richardson, Deb K Pal
Objective: Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolandic epilepsy) is a common epilepsy syndrome that is associated with literacy and language impairments. The neural mechanisms of the syndrome are not known. The primary objective of this study was to test the hypothesis that functional connectivity within the language network is decreased in children with BECTS. We also tested the hypothesis that siblings of children with BECTS have similar abnormalities. Methods: Echo planar magnetic resonance (MR) imaging data were acquired from 25 children with BECTS, 12 siblings, and 20 healthy controls, at rest...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29552452/early-electronic-screen-exposure-and-autistic-like-symptoms
#10
Donna Hermawati, Farid Agung Rahmadi, Tanjung Ayu Sumekar, Tri Indah Winarni
Prevalence autism spectrum disorders (ASD) has been on rise, but many studies suggests over-diagnosed. Currently, children have more access to electronic media on the daily basis than those of previous generation. Some studies suggest that increases screen time is associated with melanopsin-expressing neurons and decreasing gamma-aminobutyric acid (GABA) neurotransmitter, and thus results aberrant behavior, decreased cognitive, and language development. Early exposure of electronic media in early life (< 2 years old) gives an impact on language, but it still inconclusive...
February 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29506316/hand-gestures-support-word-learning-in-patients-with-hippocampal-amnesia
#11
Caitlin Hilverman, Susan Wagner Cook, Melissa C Duff
Co-speech hand gesture facilitates learning and memory, yet the cognitive and neural mechanisms supporting this remain unclear. One possibility is that motor information in gesture may engage procedural memory representations. Alternatively, iconic information from gesture may contribute to declarative memory representations mediated by the hippocampus. To investigate these alternatives, we examined gesture's effects on word learning in patients with hippocampal damage and declarative memory impairment, with intact procedural memory, and in healthy and in brain-damaged comparison groups...
March 5, 2018: Hippocampus
https://www.readbyqxmd.com/read/29501676/validation-of-ethnopharmacology-of-ayurvedic-sarasvata-ghrita-and-comparative-evaluation-of-its-neuroprotective-effect-with-modern-alcoholic-and-lipid-based-extracts-in-%C3%AE-amyloid-induced-memory-impairment
#12
Madhuri Shelar, Sadhana Nanaware, S Arulmozhi, Sathiyanarayanan Lohidasan, Kakasaheb Mahadik
ETHNOPHARMACOLOGICAL RELEVANCE: Sarasvata ghrita (SG), a polyherbal formulation from ayurveda, an ancient medicinal system of India, has been used to improve intelligence and memory, treat speech delay, speaking difficulties and low digestion power in children. AIM OF THE STUDY: Study aimed to validate the ethno use of SG in memory enhancement through systematic scientific protocol. The effect of SG and modern extracts of ingredients of SG was compared on cognitive function and neuroprotection in amyloid-β peptide 25-35(Aβ25-35) induced memory impairment in wistar rats...
March 1, 2018: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29441219/a-new-patient-with-potocki-lupski-syndrome-a-literature-review
#13
Andrea Domenico Praticò, Raffaele Falsaperla, Renata Rizzo, Martino Ruggieri, Alberto Verrotti, Piero Pavone
Speech delay, intellectual disability, and behavioral disturbances are the main clinical manifestations of Potocki-Lupski syndrome. Other features include infantile hypotonia, the absence of major dysmorphism, sleep disorders, and congenital anomalies, particularly of the cardiovascular system. A male patient with Potocki-Lupski syndrome is reported herein. He showed speech and borderline cognitive delay, behavioral troubles with no signs suggestive of autism, in the absence of major dysmorphism. A de novo 17p12-p11...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29339512/neural-preservation-underlies-speech-improvement-from-auditory-deprivation-in-young-cochlear-implant-recipients
#14
Gangyi Feng, Erin M Ingvalson, Tina M Grieco-Calub, Megan Y Roberts, Maura E Ryan, Patrick Birmingham, Delilah Burrowes, Nancy M Young, Patrick C M Wong
Although cochlear implantation enables some children to attain age-appropriate speech and language development, communicative delays persist in others, and outcomes are quite variable and difficult to predict, even for children implanted early in life. To understand the neurobiological basis of this variability, we used presurgical neural morphological data obtained from MRI of individual pediatric cochlear implant (CI) candidates implanted younger than 3.5 years to predict variability of their speech-perception improvement after surgery...
January 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29329955/longitudinal-predictors-of-early-language-in-infants-with-down-syndrome-a-preliminary-study
#15
Emily Mason-Apps, Vesna Stojanovik, Carmel Houston-Price, Sue Buckley
PURPOSE: Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved...
January 9, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29315614/defining-the-phenotypic-spectrum-of-slc6a1-mutations
#16
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, J Lawrence Merritt, Lance H Rodan, Wen-Hann Tan, Lynne M Bird, Mark Nespeca, Joseph G Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S Verhoeven, Helenius J Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E Shaw, Laura Pisani, Candace T Myers, Sha Tang, Shan Tang, Deb K Pal, John J Millichap, Gemma L Carvill, Kathrine L Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C Mefford, Rikke S Møller
OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature...
February 2018: Epilepsia
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#17
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29223763/dyrk1a-haploinsufficiency-in-mice-causes-autistic-like-features-and-febrile-seizures
#18
Matthieu Raveau, Atsushi Shimohata, Kenji Amano, Hiroyuki Miyamoto, Kazuhiro Yamakawa
Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay. Here we developed a mouse model harboring a frame-shift mutation in Dyrk1a resulting in a protein truncation and elimination of its kinase activity site. Dyrk1a+/- mice showed significant impairments in cognition and cognitive flexibility, communicative ultrasonic vocalizations, and social contacts...
February 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29182947/low-level-neural-auditory-discrimination-dysfunctions-in-specific-language-impairment-a-review-on-mismatch-negativity-findings
#19
REVIEW
Teija Kujala, Miika Leminen
In specific language impairment (SLI), there is a delay in the child's oral language skills when compared with nonverbal cognitive abilities. The problems typically relate to phonological and morphological processing and word learning. This article reviews studies which have used mismatch negativity (MMN) in investigating low-level neural auditory dysfunctions in this disorder. With MMN, it is possible to tap the accuracy of neural sound discrimination and sensory memory functions. These studies have found smaller response amplitudes and longer latencies for speech and non-speech sound changes in children with SLI than in typically developing children, suggesting impaired and slow auditory discrimination in SLI...
December 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/29173721/an-interprofessional-team-approach-to-the-differential-diagnosis-of-children-with-language-disorders
#20
REVIEW
Xueman Lucy Liu, Dawn M Zahrt, Mark D Simms
The ability to communicate effectively with others is central to children's development. Delays or disruptions due to isolated expressive language delay, articulation errors, multiple sound production errors with motor planning deficits, or mixed expressive and receptive language delay, often bring widespread consequences. Physical anomalies, neurologic and genetic disorder, cognitive and intellectual disabilities, and emotional disturbances may affect speech and language development. Communication disorders may be misdiagnosed as intellectual impairment or autism...
February 2018: Pediatric Clinics of North America
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