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https://www.readbyqxmd.com/read/29201831/an-infantile-case-of-sandhoff-disease-presenting-with-swallowing-difficulty
#1
Jae-Gun Moon, Min-A Shin, Hannah Pyo, Seong-Uk Choi, Hyun-Kyung Kim
Infants with Sandhoff disease typically appear normal until 3-6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture...
October 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29174050/phonological-working-memory-and-foxp2
#2
Katrin Schulze, Faraneh Vargha-Khadem, Mortimer Mishkin
The discovery and description of the affected members of the KE family (aKE) initiated research on how genes enable the unique human trait of speech and language. Many aspects of this genetic influence on speech-related cognitive mechanisms are still elusive, e.g. if and how cognitive processes not directly involved in speech production are affected. In the current study we investigated the effect of the FOXP2 mutation on Working Memory (WM). Half the members of the multigenerational KE family have an inherited speech-language disorder, characterised as a verbal and orofacial dyspraxia caused by a mutation of the FOXP2 gene...
November 22, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/29109055/characterization-of-oromotor-and-limb-motor-dysfunction-in-the-dj1-model-of-parkinson-disease
#3
Katie M Yang, Katherine V Blue, Haleigh M Mulholland, Meghna P Kurup, Cynthia A Kelm-Nelson, Michelle R Ciucci
Parkinson disease (PD) is devastating to sensorimotor function that includes cranial/oromotor and limb motor deficits. However, the onset, progression, and neural correlates of PD-related dysfunctions are poorly understood. To address this gap, we used a genetic rat model of PD, DJ1 -/-, and hypothesized that motor deficits would manifest early in the disease process, be progressive in nature, and be related to pathologies in brainstem structures associated with sensorimotor function. The present study compares homozygous DJ1 -/- male rats to age-matched wild type controls...
November 3, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/29066561/concerted-interneuron-activity-in-the-cerebellar-molecular-layer-during-rhythmic-oromotor-behaviors
#4
G Astorga, D Li, L Therreau, M Kassa, A Marty, I Llano
Molecular layer interneurons (MLIs, stellate and basket cells) of the cerebellar cortex are linked together by chemical and electrical synapses and exert a potent feedforward inhibition on Purkinje cells. The functional role of MLIs during specific motor tasks is uncertain. Here we use two-photon imaging to study the patterns of activity of neighboring individual MLIs in the Crus II region of awake female mice during two types of oromotor activity, licking and bruxing, using specific expression of the genetically-encoded calcium indicator protein GCaMP6s...
October 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28960626/comparison-of-rhythmic-masticatory-muscle-activity-during-non-rapid-eye-movement-sleep-in-guinea-pigs-and-humans
#5
Takafumi Kato, Risa Toyota, Shingo Haraki, Hiroyuki Yano, Makoto Higashiyama, Yoshio Ueno, Hiroshi Yano, Fumihiko Sato, Hirofumi Yatani, Atsushi Yoshida
Rhythmic masticatory muscle activity can be a normal variant of oromotor activity, which can be exaggerated in patients with sleep bruxism. However, few studies have tested the possibility in naturally sleeping animals to study the neurophysiological mechanisms of rhythmic masticatory muscle activity. This study aimed to investigate the similarity of cortical, cardiac and electromyographic manifestations of rhythmic masticatory muscle activity occurring during non-rapid eye movement sleep between guinea pigs and human subjects...
September 27, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28828751/maturation-modulates-pharyngeal-stimulus-provoked-pharyngeal-and-respiratory-rhythms-in-human-infants
#6
Kathryn A Hasenstab, Swetha Sitaram, Ivan M Lang, Reza Shaker, Sudarshan R Jadcherla
Pharyngeal-provocation induced aerodigestive symptoms in infants remain an enigma. Sources of pharyngeal provocation can be anterograde as with feeding, and retrograde as in gastroesophageal reflux. We determined maturational and dose-response effects of targeted pharyngeal-stimulus on frequency, stability, and magnitude of pharyngeal and respiratory waveforms during multiple pharyngeal swallowing responses in preterm-born infants when they were of full-term postmenstrual age (PMA). Eighteen infants (11 male) were studied longitudinally at 39...
August 21, 2017: Dysphagia
https://www.readbyqxmd.com/read/28704690/joint-attention-and-oromotor-abilities-in-young-children-with-and-without-autism-spectrum-disorder
#7
Jennifer C Dalton, Elizabeth R Crais, Shelley L Velleman
PURPOSE: This study examined the relationship between joint attention ability and oromotor imitation skill in three groups of young children with and without Autism Spectrum Disorder using both nonverbal oral and verbal motor imitation tasks. Research questions addressed a) differences among joint attention and oromotor imitation abilities; b) the relationship between independently measured joint attention and oromotor imitation, both nonverbal oral and verbal motor; c) the relationships between joint attention and verbal motor imitation during interpersonal interaction; and d) the relationship between the sensory input demands (auditory, visual, and tactile) and oromotor imitation, both nonverbal oral and verbal motor...
July 1, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28704379/fractionating-nonword-repetition-the-contributions-of-short-term-memory-and-oromotor-praxis-are-different
#8
Saloni Krishnan, Katherine J Alcock, Daniel Carey, Lina Bergström, Annette Karmiloff-Smith, Frederic Dick
The ability to reproduce novel words is a sensitive marker of language impairment across a variety of developmental disorders. Nonword repetition tasks are thought to reflect phonological short-term memory skills. Yet, when children hear and then utter a word for the first time, they must transform a novel speech signal into a series of coordinated, precisely timed oral movements. Little is known about how children's oromotor speed, planning and co-ordination abilities might influence their ability to repeat novel nonwords, beyond the influence of higher-level cognitive and linguistic skills...
2017: PloS One
https://www.readbyqxmd.com/read/28595097/neuropredictors-of-oromotor-feeding-impairment-in-12month-old-children
#9
Katherine Sanchez, Angela T Morgan, Justine M Slattery, Joy E Olsen, Katherine J Lee, Peter J Anderson, Deanne K Thompson, Lex W Doyle, Jeanie L Y Cheong, Alicia J Spittle
BACKGROUND: Feeding impairment is prevalent in children with neurodevelopmental issues. Neuroimaging and neurobehavioural outcomes at term are predictive of later neuromotor impairment, but it is unknown whether they predict feeding impairment. AIMS: To determine whether neurobehavior and brain magnetic resonance imaging (MRI) at term predict oromotor feeding at 12months in preterm and term-born children. STUDY DESIGN: Prospective cohort study...
August 2017: Early Human Development
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#10
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28499234/magnetic-implants-in-the-tongue-for-assistive-technologies-tests-of-migration-oromotor-function-and-tissue-response-in-miniature-pigs
#11
Alan J Sokoloff, Zhongtao Yang, Saman Sargolzaei, Karen Strait, Andrey Krasnopeyev, Kirk A Easley, Sylvie Mimche, Maysam Ghovanloo
OBJECTIVE: Uncertain biological consequences of titanium-magnet (Ti-mag) tongue implants constrain application of the Tongue Drive System (TDS), a brain-tongue-computer interface for individuals with severe physical impairment. Here we describe oromotor function and tongue tissue response following Ti-Mag implantation and explantation in the miniature pig, an animal model with a tongue similar in size to humans. DESIGN: A 1.8×6.2mm Ti-mag tracer was implanted into the anterior tongue in five Yucatan minipigs...
September 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28484358/anthropometric-parameters-of-nutritional-status-in-children-with-cerebral-palsy
#12
Melika Melunovic, Feriha Hadzagic-Catibusic, Vildan Bilalovic, Samra Rahmanovic, Selma Dizdar
INTRODUCTION: Patients with cerebral palsy (CP), besides the basic neurological damage, are also often undernourished. Adequate nutrition for children is very important during the period of intensive growth and development, which is of particular importance in patients with CP. GOAL: To evaluate the nutritional status of patients with CP who are treated at the Pediatric Clinic, Clinical Centre of Sarajevo University and causes of malnutrition in these patients. MATERIALS AND METHODS: Eighty patients with CP underwent anthropometric assessment (body weight, body height, body mass index, head circumference, subscapular skinfold thickness, triceps skinfold thickness and mid upper arm muscle circumference)...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28474131/dysphagia-in-friedreich-ataxia
#13
Megan J Keage, Martin B Delatycki, Isabelle Gupta, Louise A Corben, Adam P Vogel
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA. Sixty participants with FRDA were screened for dysphagia using a swallowing quality of life questionnaire (Swal-QOL) and case history. Individuals reporting dysphagia underwent a standardised oromotor assessment (Frenchay Dysarthria Assessment, 2, FDA-2) and videofluoroscopic study of swallowing (VFSS)...
May 4, 2017: Dysphagia
https://www.readbyqxmd.com/read/28444488/prophylactic-swallow-therapy-for-patients-with-head-and-neck-cancer-undergoing-chemoradiotherapy-a-randomized-trial
#14
Barbara Pisano Messing, Elizabeth C Ward, Cathy L Lazarus, Melissa Kim, Xian Zhou, Jessica Silinonte, Dorothy Gold, Karen Harrer, Karen Ulmer, Samantha Merritt, Geoffrey Neuner, Marshall Levine, Ray Blanco, John Saunders, Joseph Califano
Evidence supporting prophylactic swallow exercises for patients with head and neck cancer (HNC) has not been universally demonstrated. This RCT examined diet level, feeding tube use, swallow function, and quality of life (QOL) of patients undergoing chemoradiotherapy who performed prophylactic swallowing exercises. Sixty HNC patients were randomized into exercise versus control groups. Swallowing, oromotor, toxicity, and QOL data were recorded (baseline, 3, 6, 12, 24 months). Physiological swallow function was examined at baseline and 3 months...
August 2017: Dysphagia
https://www.readbyqxmd.com/read/28411104/genetic-control-of-oromotor-phenotypes-a-survey-of-licking-and-ingestive-behaviors-in-highly-diverse-strains-of-mice
#15
Steven J St John, Lu Lu, Robert W Williams, Jennifer Saputra, John D Boughter
In order to examine genetic influences on fluid ingestion, 20-min intake of either water or 0.1M sucrose was measured in a lickometer in 18 isogenic strains of mice, including 15 inbred strains and 3 F1 hybrid crosses. Intake and licking data were examined at a number of levels, including lick rate as defined by mean or median interlick interval, as well as several microstructural parameters (i.e. burst-pause structure). In general, strain variation for ingestive phenotypes were correlated across water and sucrose in all strains, indicating fundamental, rather than stimulus-specific, mechanisms of intake...
August 1, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#16
S J Bonasera, T R Chaudoin, E H Goulding, M Mittek, A Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire life span. 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 fragile X mental retardation 1 (Fmr1) recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
June 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28029056/ultrasound-in-dysphagia-rehabilitation-a-novel-approach-following-partial-glossectomy
#17
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
https://www.readbyqxmd.com/read/27940755/lysine-restriction-and-pyridoxal-phosphate-administration-in-a-nadk2-patient
#18
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
https://www.readbyqxmd.com/read/27882295/neuroanatomical-correlates-of-childhood-apraxia-of-speech-a-connectomic-approach
#19
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
https://www.readbyqxmd.com/read/27644167/oral-stimulation-for-promoting-oral-feeding-in-preterm-infants
#20
REVIEW
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
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