Neocerebellar Crus I Abnormalities Associated with a Speech and Language Disorder Due to a Mutation in FOXP2
AbstractBilateral volume reduction in the caudate nucleus has been established as a prominent brain abnormality associated with aFOXP2 mutation in affected members of the ‘KE family’, who present with developmental orofacial and verbal dyspraxia in conjunction with pervasive language deficits. Despite the gene’s early and prominent expression in the cerebellum and the evidence for reciprocal cerebellum-basal ganglia connectivity, very little is known about cere bellar abnormalities in affected KE members. Using cerebellum-specific voxel-based morphometry (VBM) and volumetry, we provide converging evidence from subset...
Source: The Cerebellum - November 20, 2018 Category: Neurology Source Type: research
Clinical report of 8 patients with 49, XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.
Abstract
49, XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and speech dyspraxia are cardinal symptoms. Testicular insufficiency becomes apparent during adolescence. Neurological, musculoskeletal, genital, orthodontic and immunological anomalies are common and a higher incidence of congenital malformations has been described. Here we show the evolving clinical and facial phenotype of eight boys and men with 49,XXXXY, demonstrating an increasingly perceptible distinct facial gestalt over time. In addition,...
Source: European Journal of Medical Genetics - July 18, 2018 Category: Genetics & Stem Cells Authors: Burgemeister AL, Daumiller E, du Bois G, Graul-Neumann LM, Köhler B, Knecht S, Burgemeister S, Gronwald S, Maurer MH, Zirn B Tags: Eur J Med Genet Source Type: research
Wearable Haptics and Immersive Virtual Reality Rehabilitation Training in Children With Neuromotor Impairments
The past decade has seen the emergence of rehabilitation treatments using virtual reality (VR) environments although translation into clinical practice has been limited so far. In this paper, an immersive VR rehabilitation training system endowed with wearable haptics is proposed for children with neuromotor impairments: it aims to enhance involvement and engagement of patients, to provide congruent multi-sensory afferent feedback during motor exercises and to benefit from the flexibility of VR in adapting exercises to the patient’s need. An experimental rehabilitation session conducted with children with cerebral p...
Source: IEE Transactions on Neural Systems and Rehabilitation Engineering - July 1, 2018 Category: Neuroscience Source Type: research
Interventions for childhood apraxia of speech.
CONCLUSIONS: There is limited evidence that, when delivered intensively, both the NDP-3 and ReST may effect improvement in word accuracy in 4- to 12-year-old children with CAS, measured by the accuracy of production on treated and non-treated words, speech production consistency and the accuracy of connected speech. The study did not measure functional communication. No formal analyses were conducted to compare NDP-3 and ReST by the original study authors, hence one treatment cannot be reliably advocated over the other. We are also unable to say whether either treatment is better than no treatment or treatment as usual. No...
Source: Cochrane Database of Systematic Reviews - May 30, 2018 Category: General Medicine Authors: Morgan AT, Murray E, Liégeois FJ Tags: Cochrane Database Syst Rev Source Type: research
Gender differences in parent-reported age at diagnosis of children with autism spectrum disorder
Conclusions Age at diagnosis has not decreased over time. Girls with ASD are diagnosed later than boys when aged 5 years or older. Health and education professionals would benefit from better understanding factors such as toileting problems, temper problems, and additional diagnoses that could potentially guide early identification of ASD in clinical practice for school-age girls. (Source: Research in Autism Spectrum Disorders)
Source: Research in Autism Spectrum Disorders - March 21, 2018 Category: Psychiatry Source Type: research
Specific learning difficulties in healthcare education: The meaning in the nomenclature
Specific Learning Difficulties (SpLDs) refers to a group of conditions, which encompasses: dyslexia, dyspraxia, dyscalculia, dysgraphia, and Attention Deficit Hyperactivity Disorder (ADHD) (Gibbs et al., 2007). In recent years, however, there has been some debate as to the correct terminology for this diagnostic cluster. This in turn creates uncertainty for the non-specialist healthcare educator. The language and term(s) they choose to adopt may hold unintended implications for their learners. Throughout this short article, we therefore explore the variety of terminology surrounding these conditions. (Source: Nurse Education in Practice)
Source: Nurse Education in Practice - February 6, 2018 Category: Nursing Authors: Eleanor R. Walker, Sebastian C.K. Shaw Tags: Guest Editorial Source Type: research
Corticosteroid treatment in Sydenham's chorea.
Abstract
Sydenham's chorea (SC) is an immune-mediated hyperkinetic movement disorder, developing after group A Beta-hemolytic streptococcal (GABHS) infection. Aside from conventional symptomatic treatment (carbamazepine, valproate, neuroleptics), the use of steroids has also been advocated, mainly in severe, drug-resistant cases or if clinically disabling side effects develop with first line therapies. Based on the description of 5 cases followed in the Child Neurology Unit of Santa Maria Nuova Hospital in Reggio Emilia and on the available medical literature on this topic, we propose considering the use o...
Source: European Journal of Paediatric Neurology - December 16, 2017 Category: Neurology Authors: Fusco C, Spagnoli C Tags: Eur J Paediatr Neurol Source Type: research
Phonological Working Memory and FOXP2
Publication date: Available online 22 November 2017 Source:Neuropsychologia Author(s): 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 multigenera...
Source: Neuropsychologia - November 23, 2017 Category: Neurology Source Type: research
Dyspraxia in clinical education: a review
Discussion and recommendationsIt is important for clinical educators to understand and support students with dyspraxia, as clinical environments can be particularly difficult for them. Dyspraxia has both positive and negative effects. Here we discuss the findings of previous studies in the context of EW's personal experiences. We also present a series of practical recommendations, whilst recognising that more research is required to document their impact in clinical education. (Source: The Clinical Teacher)
Source: The Clinical Teacher - November 21, 2017 Category: Universities & Medical Training Authors: Eleanor Walker, Sebastian CK Shaw, Jim Price, Malcolm Reed, John Anderson Tags: Faculty Development Review Source Type: research
Dyspraxia in clinical education: a review
The Clinical Teacher,Volume 15, Issue 2, Page 98-103, April 2018. (Source: The Clinical Teacher)
Source: The Clinical Teacher - November 21, 2017 Category: Universities & Medical Training Source Type: research
Comparing motor performance, praxis, coordination, and interpersonal synchrony between children with and without Autism Spectrum Disorder (ASD)
Publication date: January 2018 Source:Research in Developmental Disabilities, Volume 72 Author(s): Maninderjit Kaur, Sudha M. Srinivasan, Anjana N. Bhat Children with Autism Spectrum Disorder (ASD) have basic motor impairments in balance, gait, and coordination as well as autism-specific impairments in praxis/motor planning and interpersonal synchrony. Majority of the current literature focuses on isolated motor behaviors or domains. Additionally, the relationship between cognition, symptom severity, and motor performance in ASD is unclear. We used a comprehensive set of measures to compare gross and fine motor, praxi...
Source: Research in Developmental Disabilities - November 7, 2017 Category: Disability Source Type: research
Neurovisual Assessment in Children with Ataxia Telangiectasia
Discussion We propose a clinical neurovisual evaluation, which could be integrated with ICARS scores in the study of oculomotor involvement in AT pediatric patients. We strongly recommend the empowerment of visual functions to slow down progressive global disability of these patients. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 9, 2017 Category: Neurology Authors: Iodice, Alessandro Galli, Jessica Molinaro, Anna Franzoni, Alessandra Micheli, Roberto Pinelli, Lorenzo Plebani, Alessandro Soresina, Annarosa Fazzi, Elisa Tags: Original Article Source Type: research
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems
We report the case of a 7‐year‐old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16.1 deletion encompassing the entire BCL11A gene and displaying a similar phenotyp...
Source: American Journal of Medical Genetics Part A - September 27, 2017 Category: Genetics & Stem Cells Authors: Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano ‐Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck Tags: CLINICAL REPORT Source Type: research
Distinct 18 F-AV-1451 tau PET retention patterns in early- and late-onset Alzheimer ’s disease
AbstractPatients with Alzheimer ’s disease can present with different clinical phenotypes. Individuals with late-onset Alzheimer’s disease (>65 years) typically present with medial temporal lobe neurodegeneration and predominantly amnestic symptomatology, while patients with early-onset Alzheimer ’s disease (<65 years) exhibit greater neocortical involvement associated with a clinical presentation including dyspraxia, executive dysfunction, or visuospatial impairment. We recruited 20 patients with early-onset Alzheimer ’s disease, 21 with late-onset Alzheimer’s disease, three with prodromal early-onset Alzh...
Source: Brain - July 16, 2017 Category: Neurology Source Type: research
