Automatic cortical representation of auditory pitch changes in Rett syndrome

ConclusionsThe presence of the MMN in Rett patients suggests preserved abilities to process pitch changes in auditory sensory memory. This work represents a beginning step in an effort to comprehensively map the extent of auditory cortical functioning in Rett syndrome. These easily obtained objective brain measures of auditory processing have promise as biomarkers against which future therapeutic efforts can be assayed.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research

Related Links:

CONCLUSIONS: Results identify several gait characteristics observable during overground and treadmill walking. In general, participants behaved similarly during overground and treadmill walking. We conclude that both overground and treadmill walking are appropriate tools to evaluate gait in this population. Implications for rehabilitation Locomotor rehabilitation may increase the quantity of walking performed by the patients, which can alleviate negative effects of the sedentary lifestyle commonly observed in patients with Rett syndrome (RTT). Video analysis of natural walking can be an effective tool to characterize gait ...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Semin Neurol DOI: 10.1055/s-0040-1713926Investigations of the cellular and molecular mechanisms that mediate the development of the autonomic nervous system have identified critical genes and signaling pathways that, when disrupted, cause disorders of the autonomic nervous system. This review summarizes our current understanding of how the autonomic nervous system emerges from the organized spatial and temporal patterning of precursor cell migration, proliferation, communication, and differentiation, and discusses potential clinical implications for developmental disorders of the autonomic nervous system, including familia...
Source: Seminars in Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder (NDD) that is nearly always caused by loss of function mutations in Methyl-CpG-binding Protein 2 (MECP2) and shares many clinical features with other NDD. Genetic restoration of Mecp2 in symptomatic mice lacking MeCP2 expression can reverse symptoms, providing hope that disease modifying therapies can be identified for RTT. Effective and rapid clinical trial completion relies on well-defined clinical outcome measures and robust biomarkers of treatment responses. Studies on other NDD have found evidence of differences in neurophysiological measure...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
CONCLUSION: A small number of rigorously studied rehabilitation interventions have been published. Published studies aim to address a wide variety of functional impairments. Research regarding implementation of therapies for older patients with RTT is lacking and requires further exploration. PMID: 32894256 [PubMed - as supplied by publisher]
Source: Journal of Pediatric Rehabilitation Medicine - Category: Rehabilitation Tags: J Pediatr Rehabil Med Source Type: research
Rett syndrome (RS) patients often present with scoliosis, which requires surgical correction. However, literature is limited and reports major surgical complications including respiratory failure, prolonged intubation, infections, significant blood loss, and prolonged hospital stay. Cerebral palsy (CP) patients undergoing scoliosis surgery may be comparable to RS patients. They are often nonverbal, nonambulatory with frequent respiratory and surgical complications. Most surgeons have comparatively more experience treating CP patients than RS.
Source: The Spine Journal - Category: Orthopaedics Authors: Source Type: research
Publication date: Available online 27 August 2020Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Jatinder Singh, Evamaria Lanzarini, Paramala Santosh
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
We report here that neurons from R106W MeCP2 RTT human iPSCs as well as human embryonic stem cells after MeCP2 knockdown exhibit consistent and long-lasting impairment in maturation as indicated by impaired action potentials and passive membrane properties as well as reduced soma size and spine density. Moreover, RTT-inherent defects in neuronal maturation could be pan-neuronal and occurred in neurons with both dorsal and ventral forebrain features. Knockdown of MeCP2 led to more severe neuronal deficits as compared to RTT iPSC-derived neurons, which appeared to retain partial function. Strikingly, consistent deficits in n...
Source: Protein and Cell - Category: Cytology Tags: Protein Cell Source Type: research
We are pleased that this article has generated interest and are happy to respond to the comments of Oberman et  al.1 They raised both theoretical and specific issues; we will address theoretical issues first. We agree that an outcome measure for clinical trials must be valid and reliable; however, we disagree on what that means. Rett syndrome (RTT) results in both functional impairments and comorbidities th at detract from quality of life. Any clinically meaningful improvement must address these in a measurable way, and any clinical trial end point must be accurate and reproducible.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
We are pleased this article has generated interest and happy to respond to the comments of Oberman et al. They raised both theoretical and specific issues; we will address theory first.1 We agree that an outcome measure for clinical trials must be valid and reliable, however disagree on what that means. Rett syndrome results in both functional impairments and comorbidities that detract from quality of life. Any clinically meaningful improvement must address these in a measurable way, and any clinical trial endpoint must be accurate and reproducible.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Letter from the Editor Source Type: research
PMID: 32816169 [PubMed - as supplied by publisher]
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
More News: Brain | Children | Genetics | Girls | Neurology | Rett Syndrome