Read by QxMD icon Read


Liina Kuuluvainen, Minna Pöyhönen, Petra Pasanen, Maija Siitonen, Jaana Rummukainen, Pentti J Tienari, Anders Paetau, Liisa Myllykangas
Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 and a very severe FTLD neuropathological phenotype with TDP43 inclusions. The nephew of the proband had signs of dementia and personality changes at the age of 60 and showed similar but milder FTLD pathology. Three other family members had had early-onset dementia...
October 20, 2016: Journal of Alzheimer's Disease: JAD
Isabelle Breton-Torres, Manon Serre, Patrick Jammet, Jacques Yachouh
INTRODUCTION: The temporomandibular joint is highly adaptive and masticatory apparatus disorders (MAD) can occur when its ability to adapt is overwhelmed. Occlusal etiologies were long pinpointed as the sole culprits. However, a consensus now exists which minimizes their involvement. It is recognized that the etiology of MAD is multifactorial, combining occlusal problems, parafunctions, postural anomalies, orofacial dyspraxia and stress. MATERIALS AND METHODS: In this article, the authors review the role of physiotherapy in managing these pathologies...
September 2016: L' Orthodontie Française
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
BACKGROUND: Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. METHODS: Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits...
August 29, 2016: Journal of Medical Genetics
Kerry Pace
Working effectively as part of a team is an essential skill as a nurse, but it can be challenging for students, particularly ones with dyslexia or dyspraxia.
August 17, 2016: Nursing Standard
H Fryssira, E Tsoutsou, S Psoni, S Amenta, T Liehr, E Anastasakis, Ch Skentou, A Ntouflia, I Papoulidis, E Manolakos, N Chaliasos
BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis. CASE PRESENTATION: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life...
2016: Molecular Cytogenetics
Ben Ridley, Marion Beltramone, Jonathan Wirsich, Arnaud Le Troter, Eve Tramoni, Sandrine Aubert, Sophie Achard, Jean-Philippe Ranjeva, Maxime Guye, Olivier Felician
Diagonistic dyspraxia (DD) is by far the most spectacular manifestation reported by sufferers of acute corpus callosum (CC) injury (so-called "split-brain"). In this form of alien hand syndrome, one hand acts at cross purposes with the other "against the patient's will". Although recent models view DD as a disorder of motor control, there is still little information regarding its neural underpinnings, due to widespread connectivity changes produced by CC insult, and the obstacle that non-volitional movements represent for task-based functional neuroimaging studies...
2016: Frontiers in Human Neuroscience
Shilong Chen, Shao Wang, Xiaoxia Cheng, Shifeng Xiao, Xiaoli Zhu, Fengqiang Lin, Nanyang Wu, Jinxiang Wang, Meiqing Huang, Min Zheng, Shaoying Chen, Fusong Yu
Many mule duck and Cherry Valley duck flocks in different duck-producing regions of China have shown signs of an apparently new disease designated "short beak and dwarfism syndrome" (SBDS) since 2015. The disease is characterized by dyspraxia, weight loss, a protruding tongue, and high morbidity and low mortality rates. In order to characterize the etiological agent, a virus designated SBDSV M15 was isolated from allantoic fluid of dead embryos following serial passage in duck embryos. This virus causes a cytopathic effect in duck embryo fibroblast (DEF) cells...
September 2016: Archives of Virology
Sarah Amesz, Alessia Tessari, Giovanni Ottoboni, Jon Marsden
OBJECTIVE: To explore the relationship between laterality recognition after stroke and impairments in attention, 3D object rotation and functional ability. DESIGN: Observational cross-sectional study. SETTING: Acute care teaching hospital. PARTICIPANTS: Thirty-two acute and sub-acute people with stroke and 36 healthy, age-matched controls. MAIN OUTCOME MEASURES: Laterality recognition, attention and mental rotation of objects...
2016: Brain Injury: [BI]
Siddharth Srivastava, Heather E Olson, Julie S Cohen, Cynthia S Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W Yu, David T Miller, Janet S Soul, Andrea Poretti, SakkuBai Naidu
Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the phenotypic spectrum of BRAT1 related disorders by reporting on four individuals with various BRAT1 mutations resulting in clinical severity that is either mild or moderate compared to the severe phenotype seen in RMFSL...
September 2016: American Journal of Medical Genetics. Part A
G Wahba, S C Schock, S Cudd, D Grynspan, P Humphreys, W A Staines
BACKGROUND: Rett syndrome (RTT) is a neurological disorder characterized by severe cognitive impairment, motor dyspraxia, and seizures. Rett syndrome arises predominantly from mutations in MECP2, the gene coding for methyl-CpG-binding protein 2 (MeCP2). MeCP2 is an important mediator of synaptic development and is essential in regulating homeostatic synaptic plasticity (HSP) in the brain. In addition to demonstrating central nervous system impairment, RTT patients also suffer from gastrointestinal (GI) dysmotility...
June 2, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
V De Giorgis, C Varesio, C Baldassari, E Piazza, S Olivotto, J Macasaet, U Balottin, P Veggiotti
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations...
August 2016: Journal of Child Neurology
F Renault, B Sergent, V Charpillet, C Gitiaux, M-P Vazquez
BACKGROUND/OBJECTIVES: Temporalis muscle lengthening myoplasty improves tightening of the lips and rehabilitates smile for patients with congenital facial palsies. Because Moebius syndrome is heterogeneous, a careful evaluation is mandatory before deciding to perform myoplasty. This series shows the role of electromyography for investigating temporalis muscle and trigeminal nerve motor functions. METHODS: We conducted a retrospective study of 18 patients with no upward movements of the labial commissure and absent or unsightly smile...
May 19, 2016: Annales de Chirurgie Plastique et Esthétique
Toru Baba, Shigenori Kanno, Tomomi Shijo, Yoshiyuki Nishio, Osamu Iizuka, Naoto Kamimura, Tomonori Ishii, Etsuro Mori
Relapsing polychondritis (RP) is a rare inflammatory disorder of the cartilagenous structures, and it sometimes involves the central nervous system. Encephalitis associated with RP causes a wide variety of symptoms according to the affected sites. We herein report the first case of 72-year-old right-handed man who developed acute meningoencephalitis associated with RP involving the corpus callous. After immunosuppressive therapy, his symptoms dramatically improved, but difficulty in performing bimanual movements with occasional diagonistic dyspraxia in his right hand remained...
2016: Internal Medicine
Shao-Hsia Chang, Nan-Ying Yu
The praxis test is a less well-documented method to determine functional manifestations of childhood dyspraxia. For this study, children aged 6-8years were recruited as follows: 17 children with DCD, 18 at risk of DCD and 35 without obvious problems in motor coordination. The Movement Assessment Battery for Children (MABC-2) was used to measure motor performance and identify the motor incoordination. This study developed a battery of tests to assess limb praxis using a praxis imagery questionnaire, gesture representation, and questions about knowledge of object use...
August 2016: Human Movement Science
Stefanie Keulen, Peter Mariën, Peggy Wackenier, Roel Jonkers, Roelien Bastiaanse, Jo Verhoeven
This paper presents the case of a 17-year-old right-handed Belgian boy with developmental FAS and comorbid developmental apraxia of speech (DAS). Extensive neuropsychological and neurolinguistic investigations demonstrated a normal IQ but impaired planning (visuo-constructional dyspraxia). A Tc-99m-ECD SPECT revealed a significant hypoperfusion in the prefrontal and medial frontal regions, as well as in the lateral temporal regions. Hypoperfusion in the right cerebellum almost reached significance. It is hypothesized that these clinical findings support the view that FAS and DAS are related phenomena following impairment of the cerebro-cerebellar network...
2016: Frontiers in Human Neuroscience
Amelia J Anderson-Mooney, Frederick A Schmitt, Elizabeth Head, Ira T Lott, Kenneth M Heilman
Down syndrome (DS) is the most common genetic cause of intellectual disability in children. With aging, DS is associated with an increased risk for Alzheimer's disease (AD). The development of AD neuropathology in individuals with DS can result in further disturbances in cognition and behavior and may significantly exacerbate caregiver burden. Early detection may allow for appropriate preparation by caregivers. Recent literature suggests that declines in gait may serve as an early marker of AD-related cognitive disorders; however, this relationship has not been examined in individuals with DS...
April 2016: Brain and Cognition
Sadako Vargas, Jay R Lucker
A quantitative summary of existing research examining the effects of The Listening Program (TLP) on various functions in children is presented. Nine studies were used, looking at TLP intervention effects across studies, within each study and for various outcome measures. The studies looked at TLP intervention on children with autism spectrum disorder, Down syndrome, learning disabilities, auditory processing disorders, attention deficit hyperactivity disorders, Rhett syndrome, dyspraxia, cerebral palsy, fibromyalgia, arthritis and stroke...
June 2016: Occupational Therapy International
Carole Samango-Sprouse, Patrick Lawson, Courtney Sprouse, Emily Stapleton, Teresa Sadeghin, Andrea Gropman
Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79...
May 2016: American Journal of Medical Genetics. Part A
M Linden, J Weddigen
Attention deficit hyperactivity disorder (ADHD) is of great importance not only in children but also in adults; however, despite extensive research there are still many unsolved questions with respect to the diagnosis. Patients not only suffer from attention deficits and hyperactivity but also a variety of other problems, such as dyspraxia, problems with stimulus discrimination, dysgrammatism, legasthenia, or motor coordination problems. Furthermore, there are also psychopathological disorders, such as problems with memory, formal thinking, emotional modulation, drive and vegetative stability, in the sense of a psycho-organic syndrome...
January 28, 2016: Der Nervenarzt
Marie Farmer, Bernard Echenne, M'hamed Bentourkia
BACKGROUND: Developmental Coordination Disorder (DCD) is a chronic neurological disorder observed in children. DCD is characterized by slowness in activities and motor impairment that affects the children's daily living and academic achievements, and later their professional and social behavior. Our aim in this work was to report characteristics frequencies in a group of children with DCD and to propose a subtyping of DCD characteristics. METHODS: Thirty three clinical DCD characteristics, the mostly reported in the literature, were assessed in 129 patients, boys and girls aged from 4years to 18years, and their subtyping was proposed...
June 2016: Brain & Development
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"