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https://www.readbyqxmd.com/read/28108555/immune-dysregulation-may-contribute-to-disease-pathogenesis-in-spinal-muscular-atrophy-mice
#1
Marc-Olivier Deguise, Yves De Repentigny, Emily McFall, Nicole Auclair, Subash Sad, Rashmi Kothary
Spinal muscular atrophy (SMA) has long been solely considered a neurodegenerative disorder. However, recent work has highlighted defects in many other cell types that could contribute to disease aetiology. Interestingly, the immune system has never been extensively studied in SMA. Defects in lymphoid organs could exacerbate disease progression by neuroinflammation or immunodeficiency. Smn depletion led to severe alterations in the thymus and spleen of two different mouse models of SMA. The spleen from Smn depleted mice was dramatically smaller at a very young age and its histological architecture was marked by mislocalization of immune cells in the Smn(2B/-) model mice...
January 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28101883/mytreehouse-self-concept-assessment-preliminary-psychometric-analysis-of-a-new-self-concept-assessment-for-children-with-cerebral-palsy
#2
Sau Kuan Cheong, Cathryne P Lang, Sheryl A Hemphill, Leanne M Johnston
AIM: To evaluate the preliminary validity and reliability of the myTREEHOUSE Self-Concept Assessment for children with cerebral palsy (CP) aged 8 to 12 years. METHOD: The myTREEHOUSE Self-Concept Assessment includes 26 items divided into eight domains, assessed across three Performance Perspectives (Personal, Social, and Perceived) and an additional Importance Rating. Face and content validity was assessed by semi-structured interviews with seven expert professionals regarding the assessment construct, content, and clinical utility...
January 19, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28099276/factors-in-the-efficacy-safety-and-impact-on-quality-of-life-for-treatment-of-drooling-with-botulinum-toxin-type-a-in-patients-with-cerebral-palsy
#3
Maria D Gonzalez-L, Carmen Martinez, Inma Bori Y Fortuny, Santiago Suso-Vergara
OBJECTIVE: To assess the efficacy and safety of botulinum toxin A (BoNT-A) injected in both submandibular and parotid versus only in parotid glands as a treatment for drooling in patients with spastic and dyskinetic cerebral palsy (CP), including an assessment of impact on quality of life (QoL) based on items from the International Classification of Functioning, Disability, and Health (ICF) core set. DESIGN: Forty patients with CP 18 years or older (mean, 21.8 years) participated in a prospective, single-center, randomized controlled interventional study...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28091840/test-of-gross-motor-development-3-tgmd-3-with-the-use-of-visual-supports-for-children-with-autism-spectrum-disorder-validity-and-reliability
#4
K A Allen, B Bredero, T Van Damme, D A Ulrich, J Simons
The validity and reliability of the Test of Gross Motor Development-3 (TGMD-3) were measured, taking into consideration the preference for visual learning of children with autism spectrum disorder (ASD). The TGMD-3 was administered to 14 children with ASD (4-10 years) and 21 age-matched typically developing children under two conditions: TGMD-3 traditional protocol, and TGMD-3 visual support protocol. Excellent levels of internal consistency, test-retest, interrater and intrarater reliability were achieved for the TGMD-3 visual support protocol...
January 13, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28087725/neurodevelopmental-outcomes-of-extremely-low-birthweight-infants-randomised-to-different-pco2-targets-the-phelbi-follow-up-study
#5
Ulrich H Thome, Orsolya Genzel-Boroviczeny, Bettina Bohnhorst, Manuel Schmid, Hans Fuchs, Oliver Rohde, Stefan Avenarius, Hans-Georg Topf, Andrea Zimmermann, Dirk Faas, Katharina Timme, Barbara Kleinlein, Horst Buxmann, Wilfried Schenk, Hugo Segerer, Norbert Teig, Annett Bläser, Roland Hentschel, Matthias Heckmann, Rolf Schlösser, Jochen Peters, Rainer Rossi, Wolfgang Rascher, Ralf Böttger, Jürgen Seidenberg, Gesine Hansen, Maria Zernickel, Harald Bode, Jens Dreyhaupt, Rainer Muche, Helmut D Hummler
BACKGROUND: Tolerating higher partial pressures of carbon dioxide (PCO2) in mechanically ventilated extremely low birthweight infants to reduce ventilator-induced lung injury may have long-term neurodevelopmental side effects. This study analyses the results of neurodevelopmental follow-up of infants enrolled in a randomised multicentre trial. METHODS: Infants (n=359) between 400 and 1000 g birth weight and 23 0/7-28 6/7 weeks gestational age who required endotracheal intubation and mechanical ventilation within 24 hours of birth were randomly assigned to high PCO2 or to a control group with mildly elevated PCO2 targets...
January 13, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28087121/upper-extremity-outcome-measures-for-collagen-vi-related-myopathy-and-lama2-related-muscular-dystrophy
#6
Roxanna M Bendixen, Jocelyn Butrum, Mina S Jain, Rebecca Parks, Bonnie Hodsdon, Carmel Nichols, Michelle Hsia, Leslie Nelson, Katherine C Keller, Michelle McGuire, Jeffrey S Elliott, Melody M Linton, Irene C Arveson, Fatou Tounkara, Ruhi Vasavada, Elizabeth Harnett, Monal Punjabi, Sandra Donkervoort, Jahannaz Dastgir, Meganne E Leach, Anne Rutkowski, Melissa Waite, James Collins, Carsten G Bönnemann, Katherine G Meilleur
Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint. This study validated a battery of upper extremity measures in these two CMD subtypes for future clinical trials...
December 5, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#7
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28077375/body-composition-diet-and-physical-activity-a-longitudinal-cohort-study-in-preschoolers-with-cerebral-palsy
#8
Stina Oftedal, Peter Sw Davies, Roslyn N Boyd, Richard D Stevenson, Robert S Ware, Piyapa Keawutan, Katherine A Benfer, Kristie L Bell
BACKGROUND: Altered body composition in children with cerebral palsy (CP) could be due to differences in energy intake, habitual physical activity (HPA), and sedentary time. OBJECTIVE: We investigated the longitudinal relation between the weight-for-age z score (WZ), fat-free mass (FFM), percentage of body fat (%BF), and modifiable lifestyle factors for all Gross Motor Function Classification System (GMFCS) levels (I-V). DESIGN: The study was a longitudinal population-based cohort study of children with CP who were aged 18-60 mo (364 assessments in 161 children; boys: 61%; mean ± SD recruitment age: 2...
January 11, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28075705/tracking-of-gross-motor-coordination-from-childhood-into-adolescence
#9
Rodrigo Antunes Lima, Anna Bugge, Karin Allor Pfeiffer, Lars Bo Andersen
PURPOSE: The purpose of this study was to analyze tracking and stability of motor coordination in children from age 6 years to ages 9 and 13 years. METHOD: Data were from the Copenhagen School Child Intervention Study. Motor coordination (MC) was measured using the körperkoordinationstest für Kinder (KTK) test. The crude performance score on every item was converted into a standardized "score" based on the original German reference study, which was used to generate a total standardized motor coordination (MQ) score...
January 11, 2017: Research Quarterly for Exercise and Sport
https://www.readbyqxmd.com/read/28074392/effect-of-cerebrolysin-on-gross-motor-function-of-children-with-cerebral-palsy-a-clinical-trial
#10
Jafar Nasiri, Faezeh Safavifar
Gross motor dysfunction is considered as the most challenging problem in cerebral palsy (CP). It is proven that improvement of gross motor function could reduce CP-related disabilities and provide better quality of life in this group of patients. Therefore, the aim of this trial is to evaluate the effectiveness of cerebrolysin (CBL) on gross motor function of children with CP who are undergoing treatment. In this clinical trial study, paediatric patients aged 18-75 months with spastic diplegic or quadriplegic cerebral palsy, who were under rehabilitation therapy, were selected and randomly allocated in control and CBL groups...
January 10, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28073083/the-edinburgh-visual-gait-score-the-minimal-clinically-important-difference
#11
L W Robinson, N D Clement, J Herman, M S Gaston
OBJECTIVE: The primary aim was to define the minimal clinically important difference (MCID) of the Edinburgh Visual Gait Score (EVGS) using correlations with the Gross Motor Function Classification System (GMFCS) and the Functional Assessment Questionnaire (FAQ). The secondary aim was to confirm the numerical value of the MCID in the Gait Profile Score (GPS). METHOD: The EVGS and GPS scores for 151 patients with diplegic cerebral palsy (GMFCS Levels I-III) were retrospectively identified from a database held at the study centre...
January 3, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28071965/standing-activity-intervention-and-motor-function-in-a-young-child-with-cerebral-palsy-a-case-report
#12
Olukemi Audu, Carol Daly
PURPOSE: There is limited evidence to fully justify the use of standing interventions for children with cerebral palsy (CP). This case report describes the impact of an 8-week standing program on motor function in a child with severe CP living in western Africa. METHODS: The subject was diagnosed with ischemic - hypoxic encephalopathy shortly after birth and with CP at 12 months of age. Gross Motor Function Classification of CP was level IV. Early attempts at physical therapy were interrupted by limited access to medical services...
January 10, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28068863/an-exploratory-study-investigating-the-multidimensional-factors-impacting-the-health-and-well-being-of-young-adults-with-cerebral-palsy
#13
Susan E Sienko
BACKGROUND: For young adults with cerebral palsy, changes in psychological and social development, in conjunction with the progression of musculoskeletal deformities and the onset of secondary conditions, make the transition to adulthood a difficult developmental phase. Preliminary evidence shows that many of the physical impairments reported in adults with cerebral palsy begin during late adolescence; however, there is little information about prevalence of impairments and the combined role impairments, psychological and social factors have on the health and well-being of young adults with cerebral palsy...
January 9, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28065772/multimorbidity-in-middle-aged-adults-with-cerebral-palsy
#14
Nicole Cremer, Edward A Hurvitz, Mark D Peterson
BACKGROUND: Individuals with cerebral palsy have less lean body mass, greater relative adiposity, and lower fitness and physical activity participation; and yet, the prevalence of age-related multimorbidity in this population has yet to be established. PURPOSE: To examine the prevalence of lifestyle-related chronic conditions and multimorbidity in a sample of middle-aged adults with cerebral palsy. METHODS: A clinic-based sample of middle-aged adults with cerebral palsy was examined using Electronic Medical Records Search Engine (EMERSE) software...
January 5, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28063935/effects-of-spinal-cord-stimulation-on-motor-functions-in-children-with-cerebral-palsy
#15
I A Solopova, I A Sukhotina, D S Zhvansky, G A Ikoeva, S V Vissarionov, A G Baindurashvili, V R Edgerton, Y P Gerasimenko, T R Moshonkina
Is it possible to regulate the functional properties of abnormally developed spinal neuronal locomotor networks using transcutaneous spinal cord stimulation? This question has been studied in twenty-eight participants (∼9 yrs) with spastic cerebral palsy, and mainly Gross Motor Function Classification System for Cerebral Palsy level III. The participants were randomly assigned to two groups. The experimental group received transcutaneous spinal cord stimulation at two spinal levels (over T11 and L1 spinous processes), combined with locomotor treadmill training, whereas the participants of the control group received locomotor treadmill training only...
January 4, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28057008/correlates-of-preschool-children-s-objectively-measured-physical-activity-and-sedentary-behavior-a-cross-sectional-analysis-of-the-splashy-study
#16
Einat A Schmutz, Claudia S Leeger-Aschmann, Thomas Radtke, Stefanie Muff, Tanja H Kakebeeke, Annina E Zysset, Nadine Messerli-Bürgy, Kerstin Stülb, Amar Arhab, Andrea H Meyer, Simone Munsch, Jardena J Puder, Oskar G Jenni, Susi Kriemler
BACKGROUND: Identifying ways to promote physical activity and decrease sedentary time during childhood is a key public health issue. Research on the putative influences on preschool children's physical activity (PA) and sedentary behavior (SB) is limited and has yielded inconsistent results. Our aim was to identify correlates of PA and SB in preschool children. METHODS: Cross-sectional data were drawn from the Swiss Preschoolers' Health Study (SPLASHY), a Swiss population-based cohort study...
January 5, 2017: International Journal of Behavioral Nutrition and Physical Activity
https://www.readbyqxmd.com/read/28054495/comparison-of-motor-competence-levels-on-two-assessments-across-childhood
#17
Alessandro H N Ré, Samuel W Logan, Maria T Cattuzzo, Rafael S Henrique, Mariana C Tudela, David F Stodden
This study compared performances and motor delay classifications for the Test of Gross Motor Development-2nd edition (TGMD-2) and the Körperkoordinationstest Für Kinder (KTK) in a sample of 424 healthy children (47% girls) between 5 and 10 years of age. Low-to-moderate correlations (r range = 0.34-0.52) were found between assessments across age. In general, both boys and girls demonstrated higher raw scores across age groups. However, percentile scores indicated younger children outperformed older children, denoting a normative percentile-based decrease in motor competence (MC) in the older age groups...
January 5, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28045553/the-functional-effect-of-segmental-trunk-and-head-control-training-in-moderate-to-severe-cerebral-palsy-a-randomized-controlled-trial
#18
Derek John Curtis, Marjorie Woollacott, Jesper Bencke, Hanne Bloch Lauridsen, Sandy Saavedra, Thomas Bandholm, Stig Sonne-Holm
PURPOSE: To determine whether segmental training is more effective in improving gross motor function in children and young people with moderate-to-severe cerebral palsy than conventional physiotherapy. METHODS: Twenty-eight participants were randomized to a segmental training or control group. Outcomes were Gross Motor Function Measure (GMFM), Pediatric Evaluation of Disability Inventory (PEDI), Segmental Assessment of Trunk Control (SATCo), and postural sway at baseline, at primary endpoint (6 months), and at follow-up (12 months)...
January 3, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28045215/relationship-between-motor-proficiency-and-body-composition-in-6-to-10-year-old-children
#19
José Marmeleira, Guida Veiga, Hugo Cansado, Armando Raimundo
AIM: The aim of this study is to examine the relationship between motor skill competence and body composition of 6- to 10-year-old children. METHODS: Seventy girls and 86 boys participated. Body composition was measured by body mass index and skinfold thickness. Motor proficiency was evaluated through the Bruininks-Oseretsky Test of Motor Proficiency-Short Form, which included measures of gross motor skills and fine motor skills. RESULTS: Significant associations were found for both sexes between the percentage of body fat and (i) the performance in each gross motor task, (ii) the composite score for gross motor skills and (iii) the motor proficiency score...
January 3, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28044349/vitamin-d-levels-are-associated-with-gross-motor-function-in-als
#20
Sabrina Paganoni, Eric A Macklin, Chafic Karam, Hong Yu, Fernando Gonterman, K Ashley Fetterman, Merit Cudkowicz, James Berry, Anne-Marie Wills
INTRODUCTION: The objective of this study was to determine whether serum vitamin D [25(OH)D] levels are associated with disease progression in amyotrophic lateral sclerosis (ALS). METHODS: 25(OH)D was measured in subjects enrolled in a multicenter study for validation of ALS biomarkers. Baseline 25(OH)D levels were correlated with baseline ALSFRS-R scores. Average 25(OH)D levels from Baseline and Month 6 visits (seasonally asynchronous) were used to predict subsequent rate of change in ALSFRS-R from Month 6 to Month 18...
January 3, 2017: Muscle & Nerve
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