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https://www.readbyqxmd.com/read/28441773/overview-of-four-functional-classification-systems-commonly-used-in-cerebral-palsy
#1
REVIEW
Andrea Paulson, Jilda Vargus-Adams
Cerebral palsy (CP) is the most common physical disability in childhood. CP comprises a heterogeneous group of disorders that can result in spasticity, dystonia, muscle contractures, weakness and coordination difficulty that ultimately affects the ability to control movements. Traditionally, CP has been classified using a combination of the motor type and the topographical distribution, as well as subjective severity level. Imprecise terms such as these tell very little about what a person is able to do functionally and can impair clear communication between providers...
April 24, 2017: Children
https://www.readbyqxmd.com/read/28440863/fewdon-mnd-syndrome-finger-extension-weakness-and-downbeat-nystagmus-a-novel-motor-neuron-disorder
#2
Aline Delva, Nimish Thakore, Erik Pioro, Koen Poesen, Rachel Saunders-Pullman, Inge A Meijer, Janet C Rucker, John T Kissel, Philip Van Damme
Introduction Disturbances of eye movements are infrequently encountered in motor neuron diseases or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods To describe the core clinical features of a syndrome of motor neuron disease associated with downbeat nystagmus, clinical features were collected from 6 patients. Results All patients had slowly progressive muscle weakness and wasting, in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze...
April 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28440746/dual-interaction-of-scaffold-protein-tim44-of-mitochondrial-import-motor-with-channel-forming-translocase-subunit-tim23
#3
See-Yeun Ting, Nicholas L Yan, Brenda A Schilke, Elizabeth A Craig
Proteins destined for the mitochondrial matrix are targeted to the inner membrane Tim17/23 translocon by their presequences. Inward movement is driven by the matrix-localized, Hsp70-based motor. The scaffold Tim44, interacting with the matrix face of the translocon, recruits other motor subunits and binds incoming presequence. The basis of these interactions and their functional relationships remains unclear. Using site-specific in vivo crosslinking and genetic approaches in Saccharomyces cerevisiae, we found that both domains of Tim44 interact with the major matrix-exposed loop of Tim23, with the C-terminal domain (CTD) binding Tim17 as well...
April 25, 2017: ELife
https://www.readbyqxmd.com/read/28440058/atypical-inter-hemispheric-communication-correlates-with-altered-motor-inhibition-during-learning-of-a-new-bimanual-coordination-pattern-in-developmental-coordination-disorder
#4
Mélody Blais, David Amarantini, Jean-Michel Albaret, Yves Chaix, Jessica Tallet
Impairment of motor learning skills in developmental coordination disorder (DCD) has been reported in several studies. Some hypotheses on neural mechanisms of motor learning deficits in DCD have emerged but, to date, brain-imaging investigations are scarce. The aim of the present study is to assess possible changes in communication between brain areas during practice of a new bimanual coordination task in teenagers with DCD (n = 10) compared to matched controls (n = 10). Accuracy, stability and number of mirror movements were computed as behavioural variables...
April 25, 2017: Developmental Science
https://www.readbyqxmd.com/read/28439219/the-utility-of-csf-for-the-diagnosis-of-primary-and-secondary-monoamine-neurotransmitter-deficiencies
#5
A B Burlina, A Celato, G Polo, C Edini, A P Burlina
Biogenic amine defects constitute a complex and expanding group of neurotransmitter disorders affecting cognitive, motor and autonomic system development, mostly in the pediatric age. In recent years different enzymatic defects have been identified impairing the tetrahydrobiopterin cofactor pathway and/or biogenic amine synthesis, catabolism and transport, with subsequent new disease entities described. The lumbar puncture, with subsequent withdrawal of cerebrospinal fluid (CSF), remains a key step in the diagnostic procedure...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28438543/modulation-of-motor-cortex-excitability-predicts-antidepressant-response-to-prefrontal-cortex-repetitive-transcranial-magnetic-stimulation
#6
Albino J Oliveira-Maia, Daniel Press, Alvaro Pascual-Leone
BACKGROUND: Repetitive transcranial magnetic stimulation (rTMS) targeting the left dorsolateral prefrontal cortex (DLPFC) is a treatment option for patients with medication-resistant major depressive disorder (MDD). However, antidepressant response is variable and there are currently no response predictors with sufficient accuracy for clinical use. OBJECTIVE: We report on results of an observational open-label study to determine whether the modulatory effect of 10 Hz motor cortex (MC) rTMS is predictive of the antidepressant effect of 10 Hz DLPFC rTMS...
March 31, 2017: Brain Stimulation
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#7
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28437056/psychotic-and-bipolar-disorders-schizophrenia
#8
Alaina L Edmunds
Schizophrenia is the most common psychotic illness, typically appearing between the late teenage years and the mid-30s. The first episode of psychosis may be preceded by a prodromal period. Schizophrenia symptoms fall into six common symptom clusters: delusions and hallucinations, disorganization of speech, cognitive dysfunction, negative symptoms, affective symptoms, and motor system abnormalities. The diagnosis is based on criteria in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, including exclusion of other possible medical or psychiatric etiologies of psychosis...
April 2017: FP Essentials
https://www.readbyqxmd.com/read/28436889/design-and-implementation-of-a-tactile-stimulation-device-to-increase-auditory-discrimination
#9
Shahrzad Abbasi Baharanchi, Majid MohammadBeigi, Fatemeh Abnavi, Samira Tavakol
Reading is a complex process that requires various simultaneous brain processes. One of the most common types of reading disorders is developmental dyslexia, and one of the objectives of speech therapy sessions for children with developmental dyslexia is to increase their auditory discrimination. One of the most commonly used Auditory Discrimination Tests (ADTs) is Wepman's Auditory Discrimination Test (WADT). It includes minimal pair words categorized by characteristics of vowels and consonants. The goal of this research is to design and implement a tactile stimulation device based on Wepman's test to increase auditory discrimination in children with developmental dyslexia in therapy sessions, so that while playing each word for the children, vibrational cues are presented to their left palm and fingers...
April 24, 2017: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28436572/a-randomized-double-blind-placebo-controlled-trial-evaluating-cysteamine-in-huntington-s-disease
#10
Christophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, Cyril Goizet, Jean-Philippe Azulay, Clémence Simonin, Christine Tranchant, Fabienne Calvas, Pierre Krystkowiak, Perrine Charles, Katia Youssov, Clarisse Scherer, Adriana Prundean, Audrey Olivier, Pascal Reynier, Frédéric Saudou, Patrick Maison, Philippe Allain, Erica von Studnitz, Dominique Bonneau
BACKGROUND: Cysteamine has been demonstrated as potentially effective in numerous animal models of Huntington's disease. METHODS: Ninety-six patients with early-stage Huntington's disease were randomized to 1200 mg delayed-release cysteamine bitartrate or placebo daily for 18 months. The primary end point was the change from baseline in the UHDRS Total Motor Score. A linear mixed-effects model for repeated measures was used to assess treatment effect, expressed as the least-squares mean difference of cysteamine minus placebo, with negative values indicating less deterioration relative to placebo...
April 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28435846/psychometric-properties-and-characteristics-of-the-north-east-visual-hallucinations-interview-in-parkinson-s-disease
#11
Kelsey A Holiday, Eva Pirogovsky-Turk, Vanessa L Malcarne, J Vincent Filoteo, Irene Litvan, Stephanie L Lessig, David Song, Dawn M Schiehser
BACKGROUND: Visual Hallucinations (VH) are a common symptom experienced by individuals with Parkinson's disease (PD); however, a validated measure of VH has yet to be established for this population. The North-East Visual Hallucinations Interview (NEVHI), a promising VH measure, has not been well validated in PD. The aim of this study was to evaluate the convergent and discriminant validity of the NEVHI as well as the proportional identification and characteristics of VH in PD. METHODS: One hundred seventeen individuals with PD completed the NEVHI as well as evaluations of psychological, cognitive, motor, and visual functioning as measures of convergent and divergent validity...
March 16, 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28435631/the-impact-of-kinesio-taping-technique-on-children-with-cerebral-palsy
#12
REVIEW
Alireza Shamsoddini, Zabihallah Rasti, Minoo Kalantari, Mohammad Taghi Hollisaz, Vahid Sobhani, Hamid Dalvand, Mohammad Kazem Bakhshandeh-Bali
Cerebral palsy (CP) is the most common movement disorder in children that is associated with life-long disability and multiple impairments. The clinical manifestations of CP vary among children. CP is accompanied by a wide range of problems and has a broad spectrum. Children with CP demonstrate poor fine and dross motor function due to psychomotor disturbances. Early rehabilitation programs are essential for children with CP and should be appropriate for the age and functional condition of the patients. Kinesio taping (KT) technique is a relatively new technique applied in rehabilitation programs of CP...
October 7, 2016: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28433741/loss-of-the-neurodevelopmental-gene-zswim6-alters-striatal-morphology-and-motor-regulation
#13
David J Tischfield, Dave K Saraswat, Andrew Furash, Stephen C Fowler, Marc V Fuccillo, Stewart A Anderson
The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putatively causal point mutation in ZSWIM6 has been identified in several cases of acromelic frontonasal dysostosis with severe intellectual disability. Despite the growing number of studies implicating ZSWIM6 as an important regulator of brain development, its role in this process has never been examined...
April 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#14
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28431575/heterogeneous-ribonuclear-protein-a3-hnrnp-a3-is-present-in-dipeptide-repeat-protein-containing-inclusions-in-frontotemporal-lobar-degeneration-and-motor-neurone-disease-associated-with-expansions-in-c9orf72-gene
#15
Yvonne S Davidson, Louis Flood, Andrew C Robinson, Yoshihiro Nihei, Kohji Mori, Sara Rollinson, Anna Richardson, Bridget C Benson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, Christian Haass, Tammaryn Lashley, David M A Mann
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter behaviour, personality and language. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may underpin the pathogenesis of FTLD. Immunostaining for hnRNP A1, A2/B1 and A3 was performed on sections of temporal cortex with hippocampus from 61 patients with FTLD, stratified by pathological hallmarks into FTLD-tau and FTLD-TDP type A, B and C subtypes, and by genetics into patients with C9orf72 expansions, MAPT or GRN mutations, or those without known mutation...
April 21, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28430014/pediatric-oral-motor-feeding-assessments-a-systematic-review
#16
C Barton, M Bickell, S Fucile
AIM: To describe the clinical properties and psychometric soundness of pediatric oral motor feeding assessments. METHODS: A systematic search was conducted using Medline, CINAHL, EMBASE, PsycInfo, and HAPI databases. Assessments were analyzed for their clinical and psychometric characteristics. RESULTS: 12 assessment tools were identified to meet the inclusion/exclusion criteria. Clinical properties varied from assessments evaluating oral-motor deficits, screening to identify feeding problems, and monitoring feeding progress...
April 21, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28429801/the-dizzy-patient-don-t-forget-disorders-of-the-central-vestibular-system
#17
REVIEW
Thomas Brandt, Marianne Dieterich
Vertigo and dizziness are among the most common complaints in neurology clinics, and they account for about 13% of the patients entering emergency units. In this Review, we focus on central vestibular disorders, which are mostly attributable to acute unilateral lesions of the bilateral vestibular circuitry in the brain. In a tertiary interdisciplinary outpatient dizziness unit, central vestibular disorders, including vestibular migraine, comprise about 25% of the established diagnoses. The signs and symptoms of these disorders can mimic those of peripheral vestibular disorders with sustained rotational vertigo...
April 21, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28429747/imaging-genetics-approach-to-parkinson-s-disease-and-its-correlation-with-clinical-score
#18
Mansu Kim, Jonghoon Kim, Seung-Hak Lee, Hyunjin Park
Parkinson's disease (PD) is a progressive neurodegenerative disorder associated with both underlying genetic factors and neuroimaging findings. Existing neuroimaging studies related to the genome in PD have mostly focused on certain candidate genes. The aim of our study was to construct a linear regression model using both genetic and neuroimaging features to better predict clinical scores compared to conventional approaches. We obtained neuroimaging and DNA genotyping data from a research database. Connectivity analysis was applied to identify neuroimaging features that could differentiate between healthy control (HC) and PD groups...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28429656/baseline-cognitive-test-performance-and-concussion-like-symptoms-among-adolescent-athletes-with-adhd-examining-differences-based-on-medication-use
#19
Nathan E Cook, Donna S Huang, Noah D Silverberg, Brian L Brooks, Bruce Maxwell, Ross Zafonte, Paul D Berkner, Grant L Iverson
OBJECTIVE: Youth with attention deficit hyperactivity disorder (ADHD) perform more poorly on preseason cognitive testing and report more baseline concussion-like symptoms but prior studies have not examined the influence of medication use on test performance or symptom reporting. This study investigated whether medication use is relevant when interpreting baseline ImPACT® results from student athletes with ADHD. METHOD: Participants were 39,247 adolescent athletes, ages 13-18 (mean age = 15...
April 21, 2017: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/28429625/trichotillomania-and-its-clinical-relationship-to-depression-and-anxiety
#20
Jon E Grant, Sarah A Redden, Gustavo C Medeiros, Brian L Odlaug, Erin E Curley, Hermano Tavares, Nancy J Keuthen
OBJECTIVE: Trichotillomania (TTM) is associated with high rates of co-occurring depression and anxiety disorders. What the co-occurrence of TTM, depression or anxiety disorders means clinically and cognitively, however, has garnered little research attention. METHODS: About 530 adults with TTM were examined on a variety of clinical measures including symptom severity, psychosocial measures of functioning, psychiatric comorbidity and neurocognitive testing assessing motor inhibition and cognitive flexibility...
April 21, 2017: International Journal of Psychiatry in Clinical Practice
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