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Cognitive Speech Delay

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https://www.readbyqxmd.com/read/28220063/vibrotactile-discrimination-training-affects-brain-connectivity-in-profoundly-deaf-individuals
#1
Andrés A González-Garrido, Vanessa D Ruiz-Stovel, Fabiola R Gómez-Velázquez, Hugo Vélez-Pérez, Rebeca Romo-Vázquez, Ricardo A Salido-Ruiz, Aurora Espinoza-Valdez, Luis R Campos
Early auditory deprivation has serious neurodevelopmental and cognitive repercussions largely derived from impoverished and delayed language acquisition. These conditions may be associated with early changes in brain connectivity. Vibrotactile stimulation is a sensory substitution method that allows perception and discrimination of sound, and even speech. To clarify the efficacy of this approach, a vibrotactile oddball task with 700 and 900 Hz pure-tones as stimuli [counterbalanced as target (T: 20% of the total) and non-target (NT: 80%)] with simultaneous EEG recording was performed by 14 profoundly deaf and 14 normal-hearing (NH) subjects, before and after a short training period (five 1-h sessions; in 2...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28213134/speech-in-noise-perception-in-musicians-a-review
#2
REVIEW
Emily B J Coffey, Nicolette Mogilever, Robert J Zatorre
The ability to understand speech in the presence of competing sound sources is an important neuroscience question in terms of how the nervous system solves this computational problem. It is also a critical clinical problem that disproportionally affects the elderly, children with language-related learning disorders, and those with hearing loss. Recent evidence that musicians have an advantage on this multifaceted skill has led to the suggestion that musical training might be used to improve or delay the decline of speech-in-noise (SIN) function...
February 14, 2017: Hearing Research
https://www.readbyqxmd.com/read/28185206/what-you-don-t-know-can-hurt-you-the-risk-of-language-deprivation-by-impairing-sign-language-development-in-deaf-children
#3
Wyatte C Hall
A long-standing belief is that sign language interferes with spoken language development in deaf children, despite a chronic lack of evidence supporting this belief. This deserves discussion as poor life outcomes continue to be seen in the deaf population. This commentary synthesizes research outcomes with signing and non-signing children and highlights fully accessible language as a protective factor for healthy development. Brain changes associated with language deprivation may be misrepresented as sign language interfering with spoken language outcomes of cochlear implants...
February 9, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28180184/a-gain-of-function-mutation-in-the-grik2-gene-causes-neurodevelopmental-deficits
#4
Yomayra F Guzmán, Keri Ramsey, Jacob R Stolz, David W Craig, Mathew J Huentelman, Vinodh Narayanan, Geoffrey T Swanson
OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28132094/unilateral-hearing-loss-in-children-a-retrospective-study-and-a-review-of-the-current-literature
#5
Anna-Katharina Rohlfs, Johannes Friedhoff, Andrea Bohnert, Achim Breitfuss, Markus Hess, Frank Müller, Anke Strauch, Marianne Röhrs, Thomas Wiesner
: Despite the introduction of universal newborn hearing screening (UNHS), unilateral hearing loss (UHL) is sometimes recognized late. This diagnostic delay has adverse repercussions, given the importance of binaural hearing for the development of normal auditory processing. It is incorrect to maintain that unilateral hearing is the minimum requirement for adequate speech development and that hearing aid provision is consequently unnecessary. In our retrospective study, hearing aid provision resulted in improved directional and selective hearing (quiet and noisy environments) and, compared with their chronically ill counterparts, the children in our study displayed superior health-related quality of life (HRQoL) scores in all areas...
January 28, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28095807/comparison-of-developmental-milestone-attainment-in-early-treated-hiv-infected-infants-versus-hiv-unexposed-infants-a-prospective-cohort-study
#6
Sarah Benki-Nugent, Dalton Wamalwa, Agnes Langat, Kenneth Tapia, Judith Adhiambo, Daisy Chebet, Helen Moraa Okinyi, Grace John-Stewart
BACKGROUND: Infant HIV infection is associated with delayed milestone attainment. The extent to which effective antiretroviral therapy (ART) prevents these delays is not well defined. METHODS: Ages at attainment of milestones were compared between HIV-infected (initiated ART by age <5 months), and HIV-unexposed uninfected (HUU) infants. Kaplan Meier analyses were used to estimate and compare (log-rank tests) ages at milestones between groups. Adjusted analyses were performed using Cox proportional hazards models...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28044261/cognitive-development-in-a-young-child-with-mucolipidosis-type-iv-a-case-report
#7
Evelyn L Fisher, Rose A Sevcik, MaryAnn Romski
Mucolipidosis Type IV (ML IV) is an autosomal recessive genetic disorder characterized by severe psychomotor impairments and ophthalmologic abnormalities. Reports on the cognitive development of people with ML IV are limited, but suggest that achievement of language and cognitive milestones varies between a 3- and 18-month level. There is also variability in reports of whether people with ML IV make developmental progress, regress, or remain static after infancy. This study examines the longitudinal development of a young child with ML IV who participated in an augmentative and alternative communication (AAC) intervention...
January 3, 2017: JIMD Reports
https://www.readbyqxmd.com/read/27927685/influences-on-facial-emotion-recognition-in-deaf-children
#8
Francesc Sidera, Anna Amadó, Laura Martínez
This exploratory research is aimed at studying facial emotion recognition abilities in deaf children and how they relate to linguistic skills and the characteristics of deafness. A total of 166 participants (75 deaf) aged 3-8 years were administered the following tasks: facial emotion recognition, naming vocabulary and cognitive ability. The children's teachers or speech therapists also responded to two questionnaires, one on children's linguistic-communicative skills and the other providing personal information...
December 6, 2016: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/27867345/language-impairment-resulting-from-a-de-novo-deletion-of-7q32-1q33
#9
María S Jiménez-Romero, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Antonio Benítez-Burraco
We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27771655/improvement-in-neurocognitive-manifestations-with-short-term-multidisciplinary-intervention-in-digeorge-syndrome
#10
Samir Dalwai, Elyska DeSa, Deepti Kanade Modak, Ameya Bondre
BACKGROUND: DiGeorge syndrome involves deletion of chromosomal region 22q11.2. CASE CHARACTERISTICS: 3-year-old girl presenting with speech delay showed defiant behaviour and sensory concerns. OUTCOME: Multidisciplinary intervention with parental counselling improved communication and social skills. MESSAGE: Cognitive and behavioral issues in DiGeorge syndrome should be addressed through timely, multidisciplinary intervention...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27708714/the-presence-of-two-rare-genomic-syndromes-1q21-deletion-and-xq28-duplication-segregating-independently-in-a-family-with-intellectual-disability
#11
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27698260/rapid-release-from-listening-effort-resulting-from-semantic-context-and-effects-of-spectral-degradation-and-cochlear-implants
#12
Matthew Winn
People with hearing impairment are thought to rely heavily on context to compensate for reduced audibility. Here, we explore the resulting cost of this compensatory behavior, in terms of effort and the efficiency of ongoing predictive language processing. The listening task featured predictable or unpredictable sentences, and participants included people with cochlear implants as well as people with normal hearing who heard full-spectrum/unprocessed or vocoded speech. The crucial metric was the growth of the pupillary response and the reduction of this response for predictable versus unpredictable sentences, which would suggest reduced cognitive load resulting from predictive processing...
October 3, 2016: Trends in Hearing
https://www.readbyqxmd.com/read/27683195/first-evidence-of-smith-magenis-syndrome-in-mother-and-daughter-due-to-a-novel-rai-mutation
#13
Fabio Acquaviva, Maria Elena Sana, Matteo Della Monica, Michele Pinelli, Diana Postorivo, Paolo Fontana, Maria Teresa Falco, Anna Maria Nardone, Fortunato Lonardo, Maria Iascone, Gioacchino Scarano
Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. The clinical spectrum includes developmental delay, cognitive impairment, and behavioral abnormalities, with distinctive physical features that become more evident with age. No patients have been reported to have had offspring. We here describe a girl with developmental delay, mainly compromising the speech area, and her mother with mild intellectual disabilities and minor dysmorphic features...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27677260/gnb5-mutation-causes-a-novel-neuropsychiatric-disorder-featuring-attention-deficit-hyperactivity-disorder-severely-impaired-language-development-and-normal-cognition
#14
Hanan E Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N Patil, Niema Ibrahim, Kirill A Martemyanov, Fowzan S Alkuraya
BACKGROUND: Neuropsychiatric disorders are common forms of disability in humans. Despite recent progress in deciphering the genetics of these disorders, their phenotypic complexity continues to be a major challenge. Mendelian neuropsychiatric disorders are rare but their study has the potential to unravel novel mechanisms that are relevant to their complex counterparts. RESULTS: In an extended consanguineous family, we identified a novel neuropsychiatric phenotype characterized by severe speech impairment, variable expressivity of attention deficit hyperactivity disorder (ADHD), and motor delay...
September 27, 2016: Genome Biology
https://www.readbyqxmd.com/read/27676779/academic-outcome-participation-and-health-related-quality-of-life-following-childhood-severe-traumatic-brain-injury-results-of-a-prospective-longitudinal-study-the-seven-year-follow-up-of-the-tge-cohort
#15
Mathilde Chevignard, Leila Francillette, Hanna Toure, Dominique Brugel, Philippe Meyer, Anne Laurent Vannier, Marion Opatowski, Laurence Watier
OBJECTIVE: Childhood traumatic brain injury (TBI) is the first cause of death and acquired disability and it represents a major public health issue. Childhood severe TBI can lead to motor, cognitive, behavioural and social cognition deficits, which have consequences on academic achievement, social integration, participation and quality of life. Consequences may only appear after a delay, when the skills are supposed to be fully developed. The aim of this study was to prospectively assess academic outcome, health-related quality of life (HRQoL), amount of ongoing care and participation, following childhood severe traumatic brain injury (TBI) over 7-8years post-injury, in comparison with a matched uninjured control group...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27667800/clinical-and-genetic-aspects-of-kbg-syndrome
#16
Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Kathryn Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury-Ecob, Fiona Stewart, Peter Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. We describe 32 KBG patients aged 2-47 years from 27 families ascertained via two pathways: targeted ANKRD11 sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were almost universal and variable behavioral problems frequent...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27651829/a-boy-with-conduct-disorder-cd-attention-deficit-hyperactivity-disorder-adhd-borderline-intellectual-disability-and-47-xxy-syndrome-in-combination-with-a-7q11-23-duplication-11p15-5-deletion-and-20q13-33-deletion
#17
Gerasimos Kolaitis, Christian G Bouwkamp, Alexia Papakonstantinou, Ioanna Otheiti, Maria Belivanaki, Styliani Haritaki, Terpsihori Korpa, Zinovia Albani, Elena Terzioglou, Polyxeni Apostola, Aggeliki Skamnaki, Athena Xaidara, Konstantina Kosma, Sophia Kitsiou-Tzeli, Maria Tzetis
BACKGROUND: This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. CASE PRESENTATION: We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed...
2016: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/27617154/the-7q11-23-microduplication-syndrome-a-clinical-report-with-review-of-literature
#18
REVIEW
Elham Abbas, Devin M Cox, Teri Smith, Merlin G Butler
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27615053/phenotype-of-7q11-23-duplication-a-family-clinical-series
#19
Beth A Earhart, Marian E Williams, Irina Zamora, Linda Marie Randolph, Jodie K Votava-Smith, Stephanie N Marcy
Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27581652/neurodevelopmental-functioning-in-children-being-evaluated-for-heart-transplant-prior-to-2-years-of-age
#20
Tanya N Antonini, William J Dreyer, Susan E Caudle
Cardiac defects represent the most common type of birth defect and children with these abnormalities are known to experience a variety of developmental and neuropsychological delays. Children receiving heart transplants may be at the highest risk for delays as they tend to represent the most severely ill patients with heart disease. This study investigates neurocognitive and adaptive functioning in 20 children under 2 years of age who were undergoing evaluation for heart transplant, comparing their performance to that of normative samples...
August 31, 2016: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
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