Assessing and Intervening with Children with Sensory-Motor Impairment

Author(s):  
Scott L. Decker ◽  
Andrew Davis
Author(s):  
Raquel Lahoz Alonso ◽  
Paula Sienes Bailo ◽  
Jose Luis Capablo Liesa ◽  
Sara Álvarez de Andrés ◽  
Jose Luis Bancalero Flores ◽  
...  

AbstractObjectivesDescribe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.Case presentationWe report this case, where the application of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient.ConclusionsThe variant detected in HARS gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.


2017 ◽  
Vol 38 (6) ◽  
pp. 1010-1020 ◽  
Author(s):  
Anja Kahl ◽  
Corey J Anderson ◽  
Liping Qian ◽  
Henning Voss ◽  
Giovanni Manfredi ◽  
...  

The mitochondrial protein prohibitin (PHB) has emerged as an important modulator of neuronal survival in different injury modalities . We previously showed that viral gene transfer of PHB protects CA1 neurons from delayed neurodegeneration following transient forebrain ischemia through mitochondrial mechanisms. However, since PHB is present in all cell types, it is not known if its selective expression in neurons is protective, and if the protection occurs also in acute focal ischemic brain injury, the most common stroke type in humans. Therefore, we generated transgenic mice overexpressing human PHB1 specifically in neurons (PHB1 Tg). PHB1 Tg mice and littermate controls were subjected to transient middle cerebral artery occlusion (MCAo). Infarct volume and sensory-motor impairment were assessed three days later. Under the control of a neuronal promoter (CaMKIIα), PHB1 expression was increased by 50% in the forebrain and hippocampus in PHB1 Tg mice. The brain injury produced by MCAo was reduced by 63 ± 11% in PHB1 Tg mice compared to littermate controls. This reduction was associated with improved sensory-motor performance, suggesting that the salvaged brain remains functional. Approaches to enhance PHB expression may be useful to ameliorate the devastating impact of cerebral ischemia on the brain.


2020 ◽  
Vol 41 (9) ◽  
pp. 2591-2598
Author(s):  
Marina Berenguer-Rocha ◽  
Adriana Baltar ◽  
Sérgio Rocha ◽  
Lívia Shirahige ◽  
Rodrigo Brito ◽  
...  

2020 ◽  
Vol 51 (3) ◽  
pp. 671-686
Author(s):  
Verónica Vidal ◽  
Anita McAllister ◽  
Laura DeThorne

Purpose The present clinical focus draws on an intrinsic case study to provide a thick description of the communication profile of John, a 9-year-old minimally verbal autistic student. Method Specifically, traditional behavioral assessments, classroom video observations, and semistructured interviews were used to gather information regarding John's communication profile and potential sensory–motor differences. Results Convergent evidence indicated that John's expressive profile was characterized by single words, emergent word combinations, some conventional gestures, and a low frequency of communicative initiations. Concomitant language comprehension challenges and poor intelligibility associated with motor speech impairment were also indicated. His sensory–motor profile was marked by fine motor impairment, relative strengths in gross motor abilities, and sensory differences across visual, hearing, and tactile modalities. Conclusion Direct implications for supporting minimally verbal autistic students like John include the need to (a) consider sensory–motor influences on social interaction and (b) support flexible use of multimodal communication resources, including augmentative and alternative communication. Supplemental Material https://doi.org/10.23641/asha.12202448


2020 ◽  
Author(s):  
Yumna El-Hakim ◽  
Kathiresh Kumar Mani ◽  
Amir Eldouh ◽  
Alan Dabney ◽  
Rachel Pilla ◽  
...  

Abstract Background: Sex differences in experimental stroke are well documented, such that adult males show worse outcomes compared to adult females, including greater infarct volume, increased stroke-induced mortality and more severe sensory-motor impairment. Based on recent evidence that gut dysbiosis may be an early response to stroke, the present study tested the hypothesis that in the acute phase, stroke will result in greater permeability of the gut blood barrier and gut dysbiosis in males as compared to females. Method: Male and female Sprague Dawley rats (5-7 months of age) were subject to endothelin (ET)-1-induced middle cerebral artery occlusion (MCAo). Fecal samples, blood draws and sensory motor tests were conducted pre and 2d after MCAo. Fecal samples were analyzed for 16s sequencing and short chain fatty acids (SCFAs). Gut permeability was assessed in serum samples using biomarkers of gut permeability as well as functional assays using size-graded dextrans. Results: We confirmed stroke-induced sex differences, including greater mortality and sensory motor deficit in males as compared to age-matched female rats. Remarkably, fecal 16s sequencing showed greater bacterial diversity in females at baseline (prior to stroke) while 2 days after stroke, these measures were similar between the sexes. In contrast, fecal levels of short chain fatty acids (SCFAs) which are usually beneficial, were higher in males. MCAo-induced gut permeability was much worse in males as compared to females, as indicated by histological analysis, biochemical markers in serum, and serum measurement of fluorescent-labeled dextrans following oral gavage. Additionally, males had higher serum levels of proinflammatory cytokines IL-17A, MCP-1, IL-5 and EGF compared to females after stroke. Predictive modeling indicated that markers of gut permeability were associated with stroke-induced sensory-motor impairment. Conclusions: Poor stroke outcomes in adult males is mirrored by increased gut permeability in this group. Additionally, these data suggest that constitutive sex differences in the diversity and richness of gut microbial communities may predispose better functional outcomes after stroke in females, and support the idea that preventative modification of the gut microbiome may reduce the risk for stroke in vulnerable populations such as the elderly or those with co-morbid conditions.


BMJ Open ◽  
2015 ◽  
Vol 5 (12) ◽  
pp. e010212 ◽  
Author(s):  
Olena Chorna ◽  
Jill Heathcock ◽  
Alexandra Key ◽  
Garey Noritz ◽  
Helen Carey ◽  
...  

1980 ◽  
Vol 59 (3) ◽  
pp. 18P-18P ◽  
Author(s):  
D. M. Catley ◽  
C. D. Frith ◽  
C. Jordan ◽  
J. R. Lehane ◽  
J. M. Beeley ◽  
...  

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yumna El-Hakim ◽  
Kathiresh Kumar Mani ◽  
Amir Eldouh ◽  
Sivani Pandey ◽  
Maria T. Grimaldo ◽  
...  

Abstract Background Sex differences in experimental stroke outcomes are well documented, such that adult males have a greater infarct volume, increased stroke-induced mortality, and more severe sensory-motor impairment. Based on recent evidence that the gut is an early responder to stroke, the present study tested the hypothesis that sex differences in stroke severity will be accompanied by rapid and greater permeability of the gut-blood barrier and gut dysbiosis in males as compared to females. Method Male and female Sprague-Dawley rats (5–7 months of age) were subject to endothelin (ET)-1-induced middle cerebral artery occlusion (MCAo). Sensory-motor tests were conducted pre- and 2 days after MCAo. Gut permeability was assessed in serum samples using biomarkers of gut permeability as well as functional assays using size-graded dextrans. Histological analysis of the gut was performed with H&E staining, periodic acid-Schiff for mucus, and immunohistochemistry for the tight junction protein, ZO-1. Fecal samples obtained pre- and post-stroke were analyzed for bacterial taxa and short-chain fatty acids (SCFAs). Results After stroke, males displayed greater mortality, worse sensory-motor deficit, and higher serum levels of proinflammatory cytokines IL-17A, MCP-1, and IL-5 as compared to females. MCAo-induced gut permeability was rapid and severe in males as indicated by dextran extravasation from the gut to the blood in the hyperacute (< 2 h) and early acute (2 days) phase of stroke. This was accompanied by dysmorphology of the gut villi and dysregulation of the tight junction protein ZO-1 in the acute phase. Fecal 16s sequencing showed no differences in bacterial diversity in the acute phase of stroke. Predictive modeling indicated that markers of gut permeability were associated with acute sensory-motor impairment and infarct volume. Conclusions These data show that extensive leakiness of the gut barrier is associated with severe post-stroke disability and suggest that reinforcing this barrier may improve stroke outcomes.


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