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Cognitive Speech Delay

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https://www.readbyqxmd.com/read/29339512/neural-preservation-underlies-speech-improvement-from-auditory-deprivation-in-young-cochlear-implant-recipients
#1
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 16, 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
#2
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
#3
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...
January 8, 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
#4
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
#5
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...
December 6, 2017: 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
#6
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...
October 24, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/29173721/an-interprofessional-team-approach-to-the-differential-diagnosis-of-children-with-language-disorders
#7
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
https://www.readbyqxmd.com/read/29165085/a-speech-recognition-based-solution-for-the-automatic-detection-of-mild-cognitive-impairment-from-spontaneous-speech
#8
Laszlo Toth, Ildiko Hoffmann, Gabor Gosztolya, Veronika Vincze, Greta Szatloczki, Zoltan Banreti, Magdolna Pakaski, Janos Kalman
BACKGROUND: Even today the reliable diagnosis of the prodromal stages of Alzheimer's disease (AD) remains a great challenge. Our research focuses on the earliest detectable indicators of cognitive decline in mild cognitive impairment (MCI). Since the presence of language impairment has been reported even in the mild stage of AD, the aim of this study is to develop a sensitive neuropsychological screening method which is based on the analysis of spontaneous speech production during performing a memory task...
November 20, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/29162468/an-assessment-of-rehabilitation-infrastructure-in-peru
#9
Amy K Fuhs, Lacey N LaGrone, Miguel G Moscoso Porras, Manuel J A Rodríguez Castro, Rosa Lizbeth Ecos Quispe, Charles N Mock
OBJECTIVE: To assess rehabilitation infrastructure in Peru in terms of WHO Health System Building Blocks. DESIGN: Anonymous quantitative survey. Questions were based on WHO Guidelines for Essential Trauma Care and rehabilitation professionals' input. SETTING: Nine large public hospitals and referral centers in Lima and an online survey platform. PARTICIPANTS: Convenience sample of hospital personnel working in rehabilitation and neurology, recruited through existing contacts and professional societies...
November 18, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29151084/formal-neurocognitive-testing-in-60-patients-with-congenital-hyperinsulinism
#10
Anja Ludwig, Simone Enke, Janine Heindorf, Susann Empting, Thomas Meissner, Klaus Mohnike
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29121151/association-between-cognitive-function-and-quality-of-life-in-patients-with-head-and-neck-cancer
#11
Amy M Williams, Jamie Lindholm, Diana Cook, Farzan Siddiqui, Tamer A Ghanem, Steven S Chang
Importance: There is a dearth of research examining the associations between cognitive function and quality of life (QoL) in patients with head and neck cancer (HNC), despite much research examining QoL and some research examining cognitive function in this population. Objective: To identify the associations between cognitive functioning and QoL in patients prior to treatment for HNC within a multidisciplinary care team. Design, Setting, and Participants: Case series with planned data collection of cognitive function, QoL, and psychosocial variables at an urban Midwest academic medical center including 83 patients with a diagnosis of HNC between August 2015 and December 2016 who underwent a pretreatment assessment with a clinical health psychologist and a speech and language pathologist...
November 9, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28990181/long-term-impairment-attributable-to-congenital-cytomegalovirus-infection-a-retrospective-cohort-study
#12
Marjolein J Korndewal, Anne Marie Oudesluys-Murphy, Aloys C M Kroes, Marianne A B van der Sande, Hester E de Melker, Ann C T M Vossen
AIM: This study aimed to estimate long-term impairment attributable to congenital cytomegalovirus infection (cCMV). METHOD: This nationwide cohort study retrospectively assessed cCMV in children born in 2008 in the Netherlands, testing 31 484 stored neonatal dried blood spots. Extensive medical data of cCMV-positive children (n=133) and matched cCMV-negative comparison children (n=274) up to 6 years of age were analysed. RESULTS: Moderate to severe long-term impairment was diagnosed in 24...
December 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28891669/an-age-related-deficit-in-resolving-interference-evidence-from-speech-perception
#13
Avanti Dey, Mitchell S Sommers, Lynn Hasher
The presence of noise and interfering information can pose major difficulties during speech perception, particularly for older adults. Analogously, interference from similar representations during retrieval is a major cause of age-related memory failures. To demonstrate a suppression mechanism that underlies such speech and memory difficulties, we tested the hypothesis that interference between targets and competitors is resolved by suppressing competitors, thereby rendering them less intelligible in noise...
September 2017: Psychology and Aging
https://www.readbyqxmd.com/read/28883776/receptive-vocabulary-and-cognition-of-elderly-people-in-institutional-care
#14
Amela Ibrahimagic, Lejla Junuzovic Zunic, Omer C Ibrahimagic, Dzevdet Smajlovic, Mirsada Rasidovic
INTRODUCTION: Basic cognitive functions such as: alertness, working memory, long term memory and perception, as well as higher levels of cognitive functions like: speech and language, decision-making and executive functions are affected by aging processes. Relations between the receptive vocabulary and cognitive functioning, and the manifestation of differences between populations of elderly people based on the primary disease is in the focus of this study. AIM: To examine receptive vocabulary and cognition of elderly people with: verified stroke, dementia, verified stroke and dementia, and without the manifested brain disease...
June 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28875353/does-shape-affect-function-articulatory-skills-in-babbling-of-infants-with-deformational-plagiocephaly
#15
Christian Linz, Tilmann Schweitzer, Lisa C Brenner, Felix Kunz, Philipp Meyer-Marcotty, Kathleen Wermke
PURPOSE: The purpose of this study was to quantitatively analyse pre-speech/early language skills in healthy full-term infants with moderate or severe deformational plagiocephaly (DP) and in infants without any skull asymmetry. METHODS: At 6 and 12 months, 51 children with DP (41 moderate, 10 severe cases) were studied, along with 15 infants serving as control. Deformational plagiocephaly (DP) was objectively determined based on cranial vault asymmetry (CVA) using 3D stereophotogrammetry (3dMDhead System® and Analytics 4...
September 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#16
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
October 14, 2017: Lancet
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#17
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748485/early-onset-first-episode-psychosis-dimensional-structure-of-symptoms-clinical-subtypes-and-related-neurodevelopmental-markers
#18
Maria Giuseppina Petruzzelli, Lucia Margari, Andrea Bosco, Francesco Craig, Roberto Palumbi, Francesco Margari
Despite the growing interest in a dimensional approach to the assessment of symptoms and clinically relevant phenomena in schizophrenia spectrum disorders, very few studies, to date, have examined the dimensional structure of symptoms in early onset first episode psychosis. In the present study, we assessed a sample of 60 children and adolescents of both sexes with first episode schizophrenia spectrum psychosis. A principal component analysis (PCA) of the Positive and Negative Syndrome Scale (PANSS) was performed and the factors obtained were used to carry out a cluster analysis...
July 26, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28736607/typical-versus-delayed-speech-onset-influences-verbal-reporting-of-autistic-interests
#19
Liliane Chiodo, Steve Majerus, Laurent Mottron
BACKGROUND: The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associated with clinical, cognitive, and neural differences. It is unknown whether these different speech development pathways and associated cognitive differences are involved in the heterogeneity of the restricted interests that characterize autistic adults. METHOD: This study tested the hypothesis that speech onset delay, or conversely, early mastery of speech, orients the nature and verbal reporting of adult autistic interests...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28730641/basal-ganglia-and-autism-a-translational-perspective
#20
REVIEW
Krishna Subramanian, Cheryl Brandenburg, Fernanda Orsati, Jean-Jacques Soghomonian, John P Hussman, Gene J Blatt
The basal ganglia are a collection of nuclei below the cortical surface that are involved in both motor and non-motor functions, including higher order cognition, social interactions, speech, and repetitive behaviors. Motor development milestones that are delayed in autism such as gross motor, fine motor and walking can aid in early diagnosis of autism. Neuropathology and neuroimaging findings in autism cases revealed volumetric changes and altered cell density in select basal ganglia nuclei. Interestingly, in autism, both the basal ganglia and the cerebellum are impacted both in their motor and non-motor domains and recently, found to be connected via the pons through a short disynaptic pathway...
November 2017: Autism Research: Official Journal of the International Society for Autism Research
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