Early-onset parkinsonism and halo sign: Beta-propeller protein-associated neurodegeneration
This report describes a case of early-onset parkinsonism secondary to a mutation in WDR45. It underscores the importance of brain MRI to differentiate this condition from other childhood-onset parkinsonism and also other brain iron accumulation disorders. This report also shows iron deposition over the pituitary as a novel site of iron deposition in BPAN and emphasizes the presence of peri-dentate white matter volume loss and hyperintensity, which is another key radiologic abnormality associated with BPAN. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - November 6, 2020 Category: Neuroscience Authors: Debopam Samanta Raghu Ramakrishnaiah Source Type: research
IJERPH, Vol. 17, Pages 8210: Primitive Reflex Activity in Relation to the Sensory Profile in Healthy Preschool Children
-Borowicz
The presence of active primitive reflexes (APRs) in healthy preschool children can be an expression of immaturity in the functioning of the nervous system. Their trace presence may not significantly affect the quality of child functioning. They may also undergo spontaneous and complete integration within the stages of child development. However, a higher level of active reflexes and their significant number can disturb sensory-motor development and lead to additional problems in a child’s motor activities, social life, and education. The main purpose of this study was to examine the types of sen...
Source: International Journal of Environmental Research and Public Health - November 6, 2020 Category: Environmental Health Authors: Anna Pecuch Ewa Gieysztor Marlena Telenga Ewelina Wola ńska Mateusz Kowal Ma łgorzata Paprocka-Borowicz Tags: Article Source Type: research
Clinical Features, Risk Factors, and Endoscopic Treatment of Bezoars: A Retrospective Analysis from a Single Center in Northern China.
CONCLUSIONS Bezoars mainly occur in elderly patients with diseases such as gastrointestinal dyspraxia and diabetes, and are most common in hawthorn and persimmon producing areas. Endoscopic treatment is safe and effective for bezoars in general, but intestinal obstruction should be considered for bezoars larger than 9 cm.
PMID: 33027245 [PubMed - as supplied by publisher] (Source: Medical Science Monitor)
Source: Medical Science Monitor - October 8, 2020 Category: Research Tags: Med Sci Monit Source Type: research
A great athlete with muscular weakness
A 21-year-old Romanian man presented to our clinic for leanness assessment evolving for several years. He had been adopted at the age of 3 years old hence, no familial history was available. His medical history was notable for dyspraxia, dyslexia, bilateral cryptorchidism and scoliosis in infancy. He practiced water polo, swimming and martial arts, but in recent years, amyotrophy and weakness of both arms had developed (Figure, a) without dyspnea or swallowing troubles. Search for an underlying disease including malabsorption, endocrinopathy, infections, cancer, and anorexia nervosa had been ruled out previously by many sp...
Source: The American Journal of Medicine - August 20, 2020 Category: General Medicine Authors: Rim Bourguiba, Marion Masingue, Pierre-Jean Marc, Thimoth ée Langlet, Claude Bachmeyer Source Type: research
Pilot Study to Measure Deficits in Proprioception in Children With Somatodyspraxia.
CONCLUSIONS AND RELEVANCE: Children with dyspraxia have difficulties with spatial awareness and force perception, confirming a somatosensory contribution to dyspraxia.
WHAT THIS ARTICLE ADDS: This article presents a framework and methods to measure proprioception in children. These methods will allow occupational therapy practitioners to quantify the proprioceptive deficits common in children with dyspraxia.
PMID: 32804633 [PubMed - as supplied by publisher] (Source: The American Journal of Occupational Therapy)
Source: The American Journal of Occupational Therapy - August 18, 2020 Category: Occupational Health Authors: Tong Chu VW Tags: Am J Occup Ther Source Type: research
The influence of type of feedback during tablet-based delivery of intensive treatment for childhood apraxia of speech.
CONCLUSION: Mobile technology has the potential to increase motivation and engagement with therapy and to mitigate barriers associated with distance and access to speech pathology services. Further research is needed to explore the influence of type and frequency of feedback on motor learning, optimal timing for transitioning from KP to KR feedback, and how these parameters interact with task, child and context-related factors.
PMID: 32693310 [PubMed - as supplied by publisher] (Source: Journal of Communication Disorders)
Source: Journal of Communication Disorders - July 7, 2020 Category: Speech-Language Pathology Authors: McKechnie J, Ahmed B, Gutierrez-Osuna R, Murray E, McCabe P, Ballard KJ Tags: J Commun Disord Source Type: research
Editorial: Language and culture: Nurses positioned to lead hospital care for people living with dementia
One of the most complex groups of patients in hospital are people living with dementia, with 71% in the highest category of clinical complexity (AIHW, 2019). In Australia in 2016 –17, there were around 95,000 hospitalisations of people with a diagnosis of dementia, with most presenting through emergency departments for injury, poisoning or leg fracture (AIHW, 2019). Dementia is an organic disease of the brain, emerging as a pattern of cognitive decline, resulting in one or more of amnesia, aphasia, apraxia, agnosia, dyspraxia, spatial disorientation, and other features (LoGiudice& Flicker, 2014). (Source: Collegian)
Source: Collegian - May 31, 2020 Category: Nursing Authors: Laurie Grealish, Melissa J. Bloomer Source Type: research
The roles of language use and vocabulary size in the emergence of word-combining in children with complex neurodevelopmental disabilities.
Abstract
Parent report data on 82 preschool children with complex neurodevelopmental disabilities including Down syndrome, dyspraxia, autism, and global developmental delay suggests communicative language use must reach a threshold level before vocabulary size becomes the best predictor of word combining. Using the Language Use Inventory and the MacArthur-Bates CDI (with sign vocabulary option), statistical modelling using regression trees and random forests suggests that, despite high linear correlations between variables, (1) pragmatic ability, particularly children's emerging ability to talk about thing...
Source: Journal of Child Language - May 27, 2020 Category: Speech-Language Pathology Authors: Foster-Cohen S, van Bysterveldt A, Papp V Tags: J Child Lang Source Type: research
Prevalence of minimal hepatic encephalopathy among patients with chronic liver disease in Ilorin, Nigeria.
Conclusion: The prevalence of Minimal Hepatic Encephalopathy in this study was similar to previous studies. Significant number of patients with minimal HE were in Child-Pugh class B and C.
Funding: None.
PMID: 32116342 [PubMed - in process] (Source: Ghana Medical Journal)
Source: Ghana Medical Journal - March 4, 2020 Category: African Health Tags: Ghana Med J Source Type: research
Establishing metrics and control laws for the learning process: ball and beam balancing.
This study provides an example of how mathematical analysis together with careful experimental observations can shed light onto the early stages of skill acquisition. Since the difficulty of this task depends on the length of the beam, ball and beam balancing tasks may be useful for the rehabilitation of children with dyspraxia and those recovering from a stroke.
PMID: 31955261 [PubMed - as supplied by publisher] (Source: Biological Cybernetics)
Source: Biological Cybernetics - January 17, 2020 Category: Science Authors: Buza G, Milton J, Bencsik L, Insperger T Tags: Biol Cybern Source Type: research
Stroke in supplementary motor area mimicking functional disorder: a case report
We report a 59-year-old man with previous history for myocardial infarction, referred to emergency room with an acute dense right-side hemiplegia, positive Hoover sign, asymmetrical Babinski responses and intermittent ability to move his arm in some specific reflex actions despite plegia. Since brain computed tomography scan was unremarkable we could not be sure whether his symptoms were organic or functional until a diffusion weighted imaging of magnetic resonance imaging elucidated the situation. To our knowledge, there is only one case report in the literature prior to ours, presenting a supplementary motor area stroke ...
Source: Journal of Neurology - September 28, 2019 Category: Neurology Source Type: research
Hammering that Nail: Varied Praxis Motor Skills in Younger Autistic Children.
Abstract
Previous studies measuring praxis abilities in young autistic children have only used praxis measures that were not optimised for autistic individuals. Hence, we used the FAB-R to measure praxis skills in autistic (n = 38) and typically developing (TD) children (n = 38) aged between four and 10 years. Praxis abilities were generally not different between autistic and TD children. However, total dyspraxia and errors during verbal command and tool use were impaired in autistic children from a specialist autistic school (SAS). In contrast, autistic participants from the GC typically did not ...
Source: Journal of Autism and Developmental Disorders - July 10, 2019 Category: Psychiatry Authors: Crucitti J, Hyde C, Stokes MA Tags: J Autism Dev Disord Source Type: research
A pilot study of fascia Bowen therapy for 8-11 year-old boys with developmental coordination disorder
Developmental coordination disorder (DCD), also known as dyspraxia, is a disorder emerging in childhood characterised by motor skill impairments. The motor difficulties often produce negative effects in other areas of life, such as poor self-esteem and reduced social interactions. One treatment used for DCD is fascia Bowen therapy, which involves stimulating the fascia tissues of the body using finger and thumb rolling movements over the skin to improve overall muscle movement. However, no studies to date have been reported testing the effectiveness of fascia Bowen in DCD. (Source: Journal of Bodywork and Movement Therapies)
Source: Journal of Bodywork and Movement Therapies - March 1, 2019 Category: Physiotherapy Authors: Melanie Morgan-Jones, Fiona Knott, Hannah Wilcox, Chris Ashwin Tags: Pilot Study Source Type: research
Long-lasting diagonistic dyspraxia suppressed by rTMS applied to the right motor cortex
We describe the case of a 58-year-old patient with complete callosal agenesis, who developed after a stroke a long lasting and distressing diagonistic dyspraxia. We found two original treatments to relieve the patient from his left limb conflicting movements. Reinforcing left arm sensory input minimized dyspraxic movements but was difficult to apply daily and was found unsatisfactory by the patient. As left anarchic, unwished movements of diagonistic dyspraxia have been attributed to the lack of inhibition exerted by supplementary motor area on right motor cortex, we applied sham-controlled rTMS to the right motor cortex. ...
Source: Journal of Neurology - January 10, 2019 Category: Neurology Source Type: research
Neocerebellar Crus I Abnormalities Associated with a Speech and Language Disorder Due to a Mutation in FOXP2.
Abstract
Bilateral volume reduction in the caudate nucleus has been established as a prominent brain abnormality associated with a FOXP2 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 cerebellar abnormalities in affected KE members. Using cerebellum-specific voxel-based morphometry (VBM) and volumetry, we provide converging evidence...
Source: Cerebellum - November 20, 2018 Category: Neuroscience Authors: Argyropoulos GPD, Watkins KE, Belton-Pagnamenta E, Liégeois F, Saleem KS, Mishkin M, Vargha-Khadem F Tags: Cerebellum Source Type: research
