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Stephen J Bonasera, Tammy R Chaudoin, Evan H Goulding, Mateusz Mittek, Anna Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire lifespan. The childhood and adolescent behavioral consequences of FXS are well-appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of Fmr1 recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
Katrina M Blyth, Patricia McCabe, Catherine Madill, Kirrie J Ballard
PURPOSE: While the presence of dysphagia following partial glossectomy has been widely reported, there is insufficient quality evidence to guide clinical decision making about the treatment of this disorder. This study investigated a novel dysphagia rehabilitation approach using ultrasound tongue imaging for patient training. METHOD: Initially, a pilot study was conducted to investigate the feasibility of ultrasound visual feedback during swallow tasks. The protocol was then replicated using a single-case experimental designed study to investigate therapeutic effect...
December 28, 2016: Disability and Rehabilitation
Frederic Tort, Olatz Ugarteburu, Maria Angeles Torres, Judit García-Villoria, Marisa Girós, Angeles Ruiz, Antonia Ribes
We report the case of a 10-year-old Spanish girl with mutations in NADK2 Prenatal central nervous system abnormalities showed ventriculomegaly, colpocephaly, and hypoplasia of the corpus callosum. At birth, axial hypotonia, uncoordinated movements, microcephaly, and generalized cerebellar atrophy were detected. Metabolic investigations revealed high lysine, lactate, and pipecolic acid levels in blood and cerebrospinal fluid. Pyruvate carboxylase and pyruvate dehydrogenase activity in fibroblasts were normal...
November 2016: Pediatrics
Simona Fiori, Andrea Guzzetta, Jhimli Mitra, Kerstin Pannek, Rosa Pasquariello, Paola Cipriani, Michela Tosetti, Giovanni Cioni, Stephen E Rose, Anna Chilosi
Childhood apraxia of speech (CAS) is a paediatric speech sound disorder in which precision and consistency of speech movements are impaired. Most children with idiopathic CAS have normal structural brain MRI. We hypothesize that children with CAS have altered structural connectivity in speech/language networks compared to controls and that these altered connections are related to functional speech/language measures. Whole brain probabilistic tractography, using constrained spherical deconvolution, was performed for connectome generation in 17 children with CAS and 10 age-matched controls...
2016: NeuroImage: Clinical
Zelda Greene, Colm Pf O'Donnell, Margaret Walshe
BACKGROUND: Preterm infants (< 37 weeks' postmenstrual age) are often delayed in attaining oral feeding. Normal oral feeding is suggested as an important outcome for the timing of discharge from the hospital and can be an early indicator of neuromotor integrity and developmental outcomes. A range of oral stimulation interventions may help infants to develop sucking and oromotor co-ordination, promoting earlier oral feeding and earlier hospital discharge. OBJECTIVES: To determine the effectiveness of oral stimulation interventions for attainment of oral feeding in preterm infants born before 37 weeks' postmenstrual age (PMA)...
September 20, 2016: Cochrane Database of Systematic Reviews
Katherine Sanchez, Alicia J Spittle, Justine M Slattery, Angela T Morgan
OBJECTIVES: To evaluate oromotor feeding at 12 months' corrected age in children born before 30 weeks' gestational age compared with term-born peers by the use of observational assessment and to examine predictors of oromotor feeding difficulties in children born before 30 weeks. STUDY DESIGN: Oromotor feeding was assessed at 12 months' corrected age with the Schedule for Oral Motor Assessment in 90 children born before 30 weeks and 137 term-born children. Feeding outcomes were compared between groups...
September 5, 2016: Journal of Pediatrics
Nasser H Kashou, Irfaan A Dar, Kathryn A Hasenstab, Ramzi W Nahhas, Sudarshan R Jadcherla
Palmar and plantar grasp are the foremost primitive neonatal reflexes and functions. Persistence of these reflexes in infancy is a sign of evolving cerebral palsy. Our aims were to establish measurement feasibility in a clinical setting and to characterize changes in oxyhemoglobin (HbO) and deoxyhemoglobin (HbD) concentration in the bilateral frontoparietal cortex in unsedated neonates at the crib-side using functional near-infrared spectroscopy (fNIRS). We hypothesized that bilateral concentration changes will occur upon somatic central and peripheral somatic stimulation...
January 2017: Neurophotonics
Fangfang Li, Benjamin Munson
PURPOSE: The aims of the present study are (a) to quantify the developmental sequence of fricative mastery in Putonghua-speaking children and discuss the observed pattern in relation to existing theoretical positions, and (b) to describe the acquisition of the fine-articulatory/acoustic details of fricatives in the multidimensional acoustic space. METHOD: Twenty adults and 97 children participated in a speech-production experiment, repeating a list of fricative-initial words...
August 1, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
Lindsey A Schier, Alan Craig Spector
Several recent studies have shown that postoral sugar sensing rapidly stimulates ingestion. Here we explored the specificity with which early phase postoral sugar sensing influenced ingestive motivation. In Experiment 1, rats were trained to associate the consumption of 0.3M sucrose with injections of LiCl (3.0 mEq/kg IP, conditioned taste aversion) or given equivalent exposures to the stimuli, but in an unpaired fashion (UNPAIRED). Then, all rats were given two brief access tests to assess appetitive and consummatory responses to the taste properties of sucrose (0...
August 10, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
Nicholas M Allen, Judith Conroy, Thierry Deonna, Dara McCreary, Paul McGettigan, Cathy Madigan, Imogen Carter, Sean Ennis, Sally A Lynch, Amre Shahwan, Mary D King
Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy...
2016: Epilepsy & Behavior Case Reports
Takuro Sakai, Takafumi Kato, Shuichiro Yoshizawa, Takeshi Suganuma, Masayuki Takaba, Yasuhiro Ono, Ayako Yoshizawa, Yuya Yoshida, Tatsuya Kurihara, Masakazu Ishii, Fusae Kawana, Yuji Kiuchi, Kazuyoshi Baba
The aim of this study was to assess the acute effects of clonazepam and clonidine on rhythmic masticatory muscle activity in young adults with primary sleep bruxism, as well as accompanying effects on sleep architecture and cardiac activity. This study used a double-blind, crossover, placebo-controlled design. Polysomnography was performed on 19 subjects [nine men and 10 women; mean age (±SE): 25.4 ± 2.7 years] for 5 nights. The first 2 nights were used for the habituation and diagnosis of sleep bruxism...
February 2017: Journal of Sleep Research
Edward Stanek, Erica Rodriguez, Shengli Zhao, Bao-Xia Han, Fan Wang
UNLABELLED: Anatomical studies have identified brainstem neurons that project bilaterally to left and right oromotor pools, which could potentially mediate bilateral muscle coordination. We use retrograde lentiviruses combined with a split-intein-mediated split-Cre-recombinase system in mice to isolate, characterize, and manipulate a population of neurons projecting to both the left and right jaw-closing trigeminal motoneurons. We find that these bilaterally projecting premotor neurons (BPNs) reside primarily in the supratrigeminal nucleus (SupV) and the parvicellular and intermediate reticular regions dorsal to the facial motor nucleus...
July 20, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Mansi Pankaj Jani, Geeta Bharat Gore
BACKGROUND: Motor neurone disease also commonly known as Amyotrophic Lateral Sclerosis (ALS) is a neurological condition which affects various motor functions of the body. Dysphagia (disordered swallowing) is commonly seen in patients with ALS having bulbar symptoms. OBJECTIVES: Research reveals presence of dysphagia in patients with ALS at various stages of swallowing using instrumental assessment. However, very few studies have been done focussing on clinical profiling of swallowing in these patients...
June 27, 2016: NeuroRehabilitation
Tiffany J Glass, Nadine P Connor
Down syndrome is frequently associated with complex difficulties in oromotor development, feeding, and swallowing. However, the muscle phenotypes underlying these deficits are unclear. We tested the hypotheses that the Ts65Dn mouse model of DS has significantly altered myosin heavy chain (MyHC) isoform profiles of the muscles involved in feeding and swallowing, as well as reductions in the speed of these movements during behavioral assays. SDS-PAGE, immunofluorescence, and qRT-PCR were used to assess MyHC isoform expression in pertinent muscles, and functional feeding and swallowing performance were quantified through videofluoroscopy and mastication assays...
2016: PloS One
Nimet Dörtcan, Betul Tekin Guveli, Aysin Dervent
BACKGROUND Idiopathic partial epilepsies of childhood (IPE) affect a considerable proportion of children. Three main electroclinical syndromes of IPE are the Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS), Panayiotopoulos Syndrome (PS), and Childhood Epilepsy with Occipital Paroxysms (CEOP). In this study we investigated the long-term prognosis of patients with IPE and discussed the semiological and electroencephalography (EEG) data in terms of syndromic characteristics. MATERIAL AND METHODS This study included a group of consecutive patients with IPE who had been followed since 1990...
May 3, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Sudarshan R Jadcherla, Kathryn A Hasenstab, Swetha Sitaram, Brian J Clouse, Jonathan L Slaughter, Reza Shaker
The pharynx is a locus of provocation among infants with aerodigestive morbidities manifesting as dysphagia, life-threatening events, aspiration-pneumonia, atelectasis, and reflux, and such infants often receive nasal respiratory support. We determined the impact of different oxygen delivery methods on pharyngeal stimulation-induced aerodigestive reflexes [room air (RA), nasal cannula (NC), and nasal continuous positive airway pressure (nCPAP)] while hypothesizing that the sensory motor characteristics of putative reflexes are distinct...
June 1, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
Katrina M Blyth, Patricia Mccabe, Catherine Madill, Kirrie J Ballard
UNLABELLED: Disordered speech is common following treatment for tongue cancer, however there is insufficient high quality evidence to guide clinical decision making about treatment. This study investigated use of ultrasound tongue imaging as a visual feedback tool to guide tongue placement during articulation therapy with two participants following partial glossectomy. A Phase I multiple baseline design across behaviors was used to investigate therapeutic effect of ultrasound visual feedback during speech rehabilitation...
May 2016: Journal of Communication Disorders
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Frans P M Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K Chung, Dmitriy Niyazov, Juan M Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M Hisama, Bert B A de Vries, Christian Schaaf
PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new individuals with BBSOAS, exploring the spectrum of clinical phenotypes and assessing potential genotype-phenotype correlations. METHODS: Clinical features of individuals with pathogenic NR2F1 variants were evaluated by review of medical records. The functional relevance of coding nonsynonymous NR2F1 variants was assessed with a luciferase assay measuring the impact on transcriptional activity...
November 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Poonam Bala, Rupinder Kaur, Kanya Mukhopadhyay, Sukhwinder Kaur
OBJECTIVE: To assess the effect of additional oromotor stimulation along with routine care on transition from gavage to full oral feeding in preterm neonates. METHODS: 51 neonates (28-34 weeks) randomized to receive either oromotor stimulation along with routine care (n=25, intervention), or routine care alone (n=26, control) (which included Kangaroo mother care and non-nutritive sucking). RESULTS: Median (IQR) days to reach partial and full spoon feed were significantly lesser [5(3-9...
January 2016: Indian Pediatrics
Anna Maria Alexandrou, Timo Saarinen, Jan Kujala, Riitta Salmelin
Human utterances demonstrate temporal patterning, also referred to as rhythm. While simple oromotor behaviors (e.g., chewing) feature a salient periodical structure, conversational speech displays a time-varying quasi-rhythmic pattern. Quantification of periodicity in speech is challenging. Unimodal spectral approaches have highlighted rhythmic aspects of speech. However, speech is a complex multimodal phenomenon that arises from the interplay of articulatory, respiratory, and vocal systems. The present study addressed the question of whether a multimodal spectral approach, in the form of coherence analysis between electromyographic (EMG) and acoustic signals, would allow one to characterize rhythm in natural speech more efficiently than a unimodal analysis...
January 2016: Journal of the Acoustical Society of America
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