Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.
CONCLUSIONS: Biallelic sequence variants in BRAT1 have been reported to cause a variety of ocular and systemic manifestations, but to our knowledge, this is the first report of inner retinal dysfunction manifest as selective loss of full-field ERG scotopic and photopic b-wave amplitudes.
PMID: 28635423 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 22, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins.
CONCLUSIONS: We correlate a milder clinical phenotype and favourable response to thyroxine therapy in an RTHα patient (P1) with heterozygosity for mutant TRα1 exhibiting partial, T3-reversible, loss-of-function. In contrast, a more severe clinical phenotype, refractory to hormone therapy, was evident in another case (P2), associated with severe, virtually irreversible, dysfunction of mutant TRα1.
PMID: 28471274 [PubMed - as supplied by publisher] (Source: Thyroid : official journal of the American Thyroid Association)
Source: Thyroid : official journal of the American Thyroid Association - May 6, 2017 Category: Endocrinology Tags: Thyroid Source Type: research
Treatment of Childhood Apraxia with Autologous Cord Blood Infusions
Background: Developmental verbal dyspraxia (DVD), also known as childhood apraxia of speech (CAS) and developmental apraxia of speech (DAS); is an inability to utilize motor planning to execute speech. Possible etiological associations are neurological, neurobehavioral, or idiopathic neurogenic speech disorder. No current treatment is effective. We treated a group of children with apraxia using umbilical CB to determine safety and feasibility of autologous cord blood infusions. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 22, 2017 Category: Hematology Authors: Colleen A. McLaughlin, R. Anne Fitzgerald, June Allison, Barbara Waters-Pick, Jessica Sun, Joanne Kurtzberg Source Type: research
10 ‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence
We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. © 2017 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 16, 2017 Category: Genetics & Stem Cells Authors: Colleen Keen, Carole Samango ‐Sprouse, Holly Dubbs, Elaine H. Zackai Tags: Clinical Report Source Type: research
Potocki –Shaffer syndrome in a child without intellectual disability—the role of PHF21A in cognitive function
We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay. Cognitive and behavioral testing supported formal diagnoses of anxiety, verbal dyspraxia, articulation disorder, and coordination disorder, without intellectual disability. His facial features, though distinctive, were not typical of those observed in PSS. As the chromosomal deletion does not encompass PHF21A, this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contri...
Source: American Journal of Medical Genetics Part A - January 26, 2017 Category: Genetics & Stem Cells Authors: Caroline McCool, Adiaha Spinks ‐Franklin, Lenora M. Noroski, Lorraine Potocki Tags: Clinical Report Source Type: research
Dyspraxia and autistic traits in adults with and without autism spectrum conditions
ConclusionsDyspraxia is significantly more prevalent in adults with ASC compared to controls, confirming reports that motor coordination difficulties are significantly more common in this group. Interestingly, in the general population, dyspraxia was associated with significantly higher autistic traits and lower empathy. These results suggest that motor coordination skills are important for effective social skills and empathy. (Source: Molecular Autism)
Source: Molecular Autism - November 24, 2016 Category: Molecular Biology Source Type: research
Corticobasal syndrome and corticobasal degeneration
This study will facilitate identification of specific clinical and biological markers for CBD and will ultimately contribute to the development of disease modifying therapies. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2016 Category: Neurosurgery Authors: Lamb, R., Darvell, M., Woodside, J., Rohrer, J., Lees, A., Morris, H. Tags: ABN Annual Meeting, 17-19 May 2016, The Brighton Centre, Brighton Source Type: research
Kcnj11 mutations cause severe neuropsychological deficits
Conclusions
KCNJ11 mutations can cause a severe neuropsychological phenotype with intellectual disability, impaired visuospatial and executive abilities, and autistic features. This suggests a role for the K-ATP channel in brain development and channel dysfunction may be important in the pathogenesis of neurodevelopmental disorders. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2016 Category: Neurosurgery Authors: Day, J., Torrens, L., Bowman, P., Shepherd, M., Chakera, A., Hattersley, A., Zeman, A. Tags: Brain stem / cerebellum, Stroke, Child and adolescent psychiatry ABN Annual Meeting, 17-19 May 2016, The Brighton Centre, Brighton Source Type: research
PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving thePARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143) ×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only thePARK2gene has been reported in medical literature....
Source: Molecular Syndromology - September 2, 2016 Category: Molecular Biology Source Type: research
< b > < i > PARK2 < /i > < /b > Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving thePARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143) ×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only thePARK2gene has been reported in medical literature....
Source: Molecular Syndromology - September 1, 2016 Category: Molecular Biology Source Type: research
Dyspraxia in ASD: Impaired coordination of movement elements
We examined 25 school‐aged participants with ASD and 25 age‐matched controls performing seven simultaneous gestures that required the concurrent performance of movement elements and nine serial gestures, in which all elements were performed serially. There was indeed a group × gesture‐type interaction (P < 0.001). Whereas both groups had greater difficulty performing simultaneous than serial gestures, children with ASD had a 2.6‐times greater performance decrement with simultaneous (vs. serial) gestures than controls. These results point to a potential deficit in the simultaneous processing of multiple inpu...
Source: Autism Research - August 31, 2016 Category: Psychiatry Authors: Danielle McAuliffe, Ajay S. Pillai, Alyssa Tiedemann, Stewart H. Mostofsky, Joshua B. Ewen Tags: Short Report Source Type: research
Isolation and characterization of a distinct duck-origin goose parvovirus causing an outbreak of duckling short beak and dwarfism syndrome in China
AbstractMany 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 em bryos following serial passage in duck embryos. This virus causes a cytopathic effect in duck embryo fibroblast (DEF) cells. Using monoclonal antibody diagnostic assays, the ...
Source: Archives of Virology - August 17, 2016 Category: Virology Source Type: research
Student life - Inclusive approaches.
Abstract
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.
PMID: 27533409 [PubMed - as supplied by publisher] (Source: Nursing Standard)
Source: Nursing Standard - August 16, 2016 Category: Nursing Authors: Pace K Tags: Nurs Stand Source Type: research
Oculomotor Impairments in Developmental Dyspraxia
AbstractChildren with developmental dyspraxia (DD) express impairments in the acquisition of various motor skills and in the development of their social cognition abilities. Although the neural bases of this condition are not fully understood, they are thought to involve frontal cortical areas, subcortical structures, and the cerebellum. Although cerebellar dysfunction is typically difficult to assess and quantify using traditional neurophysiological methods, oculomotor analysis may provide insight into specific cerebellar patterns. The aim of the present study was to investigate, in dyspraxic and typically developing subj...
Source: The Cerebellum - July 31, 2016 Category: Neurology Source Type: research
Oculomotor Impairments in Developmental Dyspraxia.
Abstract
Children with developmental dyspraxia (DD) express impairments in the acquisition of various motor skills and in the development of their social cognition abilities. Although the neural bases of this condition are not fully understood, they are thought to involve frontal cortical areas, subcortical structures, and the cerebellum. Although cerebellar dysfunction is typically difficult to assess and quantify using traditional neurophysiological methods, oculomotor analysis may provide insight into specific cerebellar patterns. The aim of the present study was to investigate, in dyspraxic and typical...
Source: Cerebellum - July 31, 2016 Category: Neuroscience Authors: Gaymard B, Giannitelli M, Challes G, Rivaud-Péchoux S, Bonnot O, Cohen D, Xavier J Tags: Cerebellum Source Type: research
