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Speech delay

Yuri A Zarate, Jennifer L Fish
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines...
October 24, 2016: American Journal of Medical Genetics. Part A
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
Mary Anne D Chiong, Marilyn A Tan, Cynthia P Cordero, Esphie Grace D Fodra, Judy S Manliguis, Cristine P Lopez, Leslie Michelle M Dalmacio
BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy deprivation are suggested. It is therefore the aim of this study to determine the plasma amino acid and urine organic acid profiles of patients with MSUD and correlate the findings with their neurologic features...
December 2016: Molecular Genetics and Metabolism Reports
Rebecca A Gilbert, Graham J Hitch, Tom Hartley
The capacity of serially ordered auditory-verbal short-term memory (AVSTM) is sensitive to the timing of the material to be stored, and both temporal processing and AVSTM capacity are implicated in the development of language. We developed a novel "rehearsal-probe" task to investigate the relationship between temporal precision and the capacity to remember serial order. Participants listened to a sub-span sequence of spoken digits and silently rehearsed the items and their timing during an unfilled retention interval...
October 19, 2016: Quarterly Journal of Experimental Psychology: QJEP
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan Peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang, Jing Wu
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother...
October 10, 2016: Oncotarget
John Kingston, Joshua Levy, Amanda Rysling, Adrian Staub
Listeners tend to categorize an ambiguous speech sound so that it forms a word with its context (Ganong, 1980). This effect could reflect feedback from the lexicon to phonemic activation (McClelland & Elman, 1986), or the operation of a task-specific phonemic decision system (Norris, McQueen, & Cutler, 2000). Because the former account involves feedback between lexical and phonemic levels, it predicts that the lexicon's influence on phonemic decisions should be delayed and should gradually increase in strength...
August 15, 2016: Journal of Experimental Psychology. Human Perception and Performance
Clément François, Toni Cunillera, Enara Garcia, Matti Laine, Antoni Rodriguez-Fornells
Learning a new language requires the identification of word units from continuous speech (the speech segmentation problem) and mapping them onto conceptual representation (the word to world mapping problem). Recent behavioral studies have revealed that the statistical properties found within and across modalities can serve as cues for both processes. However, segmentation and mapping have been largely studied separately, and thus it remains unclear whether both processes can be accomplished at the same time and if they share common neurophysiological features...
October 9, 2016: Neuropsychologia
Ramesh Kaipa
BACKGROUND: Prior studies have investigated the influence of principles of motor learning (PMLs) on speech-motor learning. However, the interactive effect of different PMLs on speech-motor learning remains unknown. PURPOSE: This study is aimed at investigating the interaction of 2 PMLs, that is, practice variability and task complexity and their influence on speech-motor learning. METHOD: Forty healthy individuals (aged 18-30 years) were randomly and equally allocated to 2 groups where they had to either practice a simple (simple group) or a complex phrase (complex group)...
September 2016: Annals of Neurosciences
Stephan Getzmann, Edmund Wascher
Older adults are usually more easily distracted by task-irrelevant stimuli than younger ones. In addition, there is evidence that it takes them more time to overcome a distracting event. Here, the distracting effect of irregular switches in speaker location was studied in 22 younger and 22 older adults in a speech perception task. The participants responded to target words that were presented either from a frequent location (standard trials) or a rare location (deviant trials). Behavioral performance measures, event-related brain potentials (ERPs), and EEG synchronization (intertrial coherence [ITC]) were analyzed...
October 6, 2016: Psychology and Aging
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
Christiane M Thiel, Jale Özyurt, Waldo Nogueira, Sebastian Puschmann
Prior research suggests that acoustical degradation impacts encoding of items into memory, especially in elderly subjects. We here aimed to investigate whether acoustically degraded items that are initially encoded into memory are more prone to forgetting as a function of age. Young and old participants were tested with a vocoded and unvocoded serial list learning task involving immediate and delayed free recall. We found that degraded auditory input increased forgetting of previously encoded items, especially in older participants...
2016: Frontiers in Human Neuroscience
Teresa Iacono, David Trembath, Shane Erickson
BACKGROUND: Augmentative and alternative communication (AAC) interventions are used for children with autism, often as stand-alone communication interventions for those who are minimally verbal. Our aim was to synthesize the evidence for AAC interventions for children (up to 21 years), and then consider the role of AAC within established, comprehensive, evidence-based autism interventions targeting learning across multiple developmental domains. DESIGN: We completed a systematic search of three databases (OVID Medline, PsycINFO, ERIC) as well as forward citation and hand searches to identify systematic reviews of AAC intervention efficacy research including children with autism, published between 2000 and March 2016 in peer-reviewed journals...
2016: Neuropsychiatric Disease and Treatment
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
Michiel Hermans, Piotr Antonik, Marc Haelterman, Serge Massar
Delay-coupled electro-optical systems have received much attention for their dynamical properties and their potential use in signal processing. In particular, it has recently been demonstrated, using the artificial intelligence algorithm known as reservoir computing, that photonic implementations of such systems solve complex tasks such as speech recognition. Here, we show how the backpropagation algorithm can be physically implemented on the same electro-optical delay-coupled architecture used for computation with only minor changes to the original design...
September 16, 2016: Physical Review Letters
Marisa Lousada, Margarida Ramalho, Carolina Marques
OBJECTIVE: This paper investigates the effectiveness of the Language Intervention Programme for the treatment of 14 preschool-aged children with primary language impairment. PATIENTS AND METHODS: We used a waiting list control design, in which half the sample (7 children) received immediate intervention with the Language Intervention Programme, whereas the remaining children received treatment after a 4-week delay. The intervention consisted of 8 individual biweekly sessions...
September 30, 2016: Folia Phoniatrica et Logopaedica
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...
September 28, 2016: American Journal of Medical Genetics. Part A
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
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
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