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https://www.readbyqxmd.com/read/29655507/response-to-name-and-its-value-for-the-early-detection-of-developmental-disorders-insights-from-autism-spectrum-disorder-rett-syndrome-and-fragile-x-syndrome-a-perspectives-paper
#1
Dajie Zhang, Laura Roche, Katrin D Bartl-Pokorny, Magdalena Krieber, Laurie McLay, Sven Bölte, Luise Poustka, Jeff Sigafoos, Markus Gugatschka, Christa Einspieler, Peter B Marschik
BACKGROUND: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. AIMS: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across syndromes. METHODS AND PROCEDURES: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies...
April 11, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29621262/rescue-of-hyperexcitability-in-hippocampal-ca1-neurons-from-mecp2-y-mouse-through-surface-potential-neutralization
#2
Saju Balakrishnan, Sergej L Mironov
Hyperventilation is a known feature of Rett syndrome (RTT). However, how hyperventilation is related to other RTT symptoms such as hyperexcitability is unknown. Intense breathing during hyperventilation induces hypocapnia and culminates in respiratory alkalosis. Alkalinization of extracellular milieu can trigger epilepsy in patients who already have neuronal hyperexcitability. By combining patch-clamp electrophysiology and quantitative glutamate imaging, we compared excitability of CA1 neurons of WT and Mecp2 (-/y) mice, and analyzed the biophysical properties of subthreshold membrane channels...
2018: PloS One
https://www.readbyqxmd.com/read/29609636/a-perspective-on-cure-for-rett-syndrome
#3
Angus John Clarke, Ana Paula Abdala Sheikh
The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any age. However, it may be difficult to strike the right balance between enthusiasm on the one hand and realism on the other. One effect of this has been a fragmentation of the "Rett syndrome community" with some groups giving priority to work aimed at a cure while fewer resources are devoted to medical or therapy-based interventions to enhance the quality of life of affected patients or provide support for their families...
April 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29600274/-wdr45-mutations-may-cause-a-mecp2-mutation-negative-rett-syndrome-phenotype
#4
Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29595472/mechanism-and-consequence-of-abnormal-calcium-homeostasis-in-rett-syndrome-astrocytes
#5
Qiping Dong, Qing Liu, Ronghui Li, Anxin Wang, Qian Bu, Kuan-Hong Wang, Qiang Chang
Astrocytes play an important role in Rett syndrome (RTT) disease progression. Although the non-cell-autonomous effect of RTT astrocytes on neurons was documented, cell-autonomous phenotypes and mechanisms within RTT astrocytes are not well understood. We report that spontaneous calcium activity is abnormal in RTT astrocytes in vitro , in situ , and in vivo . Such abnormal calcium activity is mediated by calcium overload in the endoplasmic reticulum caused by abnormal store operated calcium entry, which is in part dependent on elevated expression of TRPC4...
March 29, 2018: ELife
https://www.readbyqxmd.com/read/29587149/neurophysiological-and-cognitive-effects-of-transcranial-direct-current-stimulation-in-three-girls-with-rett-syndrome-with-chronic-language-impairments
#6
Rosa Angela Fabio, Antonio Gangemi, Tindara Capri, Sarojini Budden, Alessandra Falzone
BACKGROUND: this study was based on both neurophysiological decelerated activity and communication deficits in Rett Syndrome (RTT). AIMS: the aim was to examine the neurophysiological and cognitive effects of Transcranial Direct Current Stimulation (tDCS) in three girls with RTT with chronic language impairments. METHODS AND PROCEDURES: we proposed an integrated intervention: tDCS and cognitive empowerment applied to language in order to enhance speech production (new functional sounds and new words)...
March 24, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29570050/forniceal-deep-brain-stimulation-induces-gene-expression-and-splicing-changes-that-promote-neurogenesis-and-plasticity
#7
Amy E Pohodich, Hari Yalamanchili, Ayush T Raman, Ying-Wooi Wan, Michael Gundry, Shuang Hao, Haijing Jin, Jianrong Tang, Zhandong Liu, Huda Y Zoghbi
Clinical trials are currently underway to assess the efficacy of forniceal deep brain stimulation (DBS) for improvement of memory in Alzheimer's patients, and forniceal DBS has been shown to improve learning and memory in a mouse model of Rett syndrome (RTT), an intellectual disability disorder caused by loss-of-function mutations in MECP2 . The mechanism of DBS benefits has been elusive, however, so we assessed changes in gene expression, splice isoforms, DNA methylation, and proteome following acute forniceal DBS in wild-type mice and mice lacking Mecp2 ...
March 23, 2018: ELife
https://www.readbyqxmd.com/read/29563764/abnormal-foot-position-and-standing-and-walking-ability-in-rett-syndrome-an-exploratory-study
#8
Hanneke E Borst, Gillian S Townend, Mirjam van Eck, Eric Smeets, Mariëlle van den Berg, Aleid Laan, Leopold M G Curfs
This study aimed to determine whether there is a relationship between abnormal foot position and standing and walking ability in individuals with Rett syndrome (RTT), a rare neurological condition primarily affecting females, often accompanied by impaired gross motor function and musculoskeletal deformities. Through means of an online survey, physiotherapists were asked to share information about their work and experience with individuals with RTT. They were asked about their clients' scores on the Rett Syndrome Gross Motor Scale and measures of their foot deformity, passive range of motion of dorsiflexion of the foot, use of supportive footwear, pressure load on the foot, and symmetry in weight bearing...
2018: Journal of Developmental and Physical Disabilities
https://www.readbyqxmd.com/read/29563495/neural-stem-cells-from-a-mouse-model-of-rett-syndrome-are-prone-to-senescence-show-reduced-capacity-to-cope-with-genotoxic-stress-and-are-impaired-in-the-differentiation-process
#9
Nicola Alessio, Francesco Riccitiello, Tiziana Squillaro, Stefania Capasso, Stefania Del Gaudio, Giovanni Di Bernardo, Marilena Cipollaro, Mariarosa A B Melone, Gianfranco Peluso, Umberto Galderisi
Several aspects of stem cell life are governed by epigenetic variations, such as DNA methylation, histone modifications, and chromatin remodeling. Epigenetic events are also connected with the impairment of stem cell functions. For example, during senescence, there are significant changes in chromatin organization that alter transcription. The MECP2 protein can bind methylated cytosines and contribute to regulating gene expression at one of the highest hierarchical levels. Researchers are particularly interested in this protein, as up to 90% of Rett syndrome patients have an MECP2 gene mutation...
March 22, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29560377/placebo-controlled-crossover-assessment-of-mecasermin-for-the-treatment-of-rett-syndrome
#10
Heather M O'Leary, Walter E Kaufmann, Katherine V Barnes, Kshitiz Rakesh, Kush Kapur, Daniel C Tarquinio, Nicole G Cantwell, Katherine J Roche, Suzanne A Rose, Alexandra C Walco, Natalie M Bruck, Grace A Bazin, Ingrid A Holm, Mark E Alexander, Lindsay C Swanson, Lauren M Baczewski, Juan M Mayor Torres, Charles A Nelson, Mustafa Sahin
Objective: To measure the efficacy of mecasermin (recombinant human insulin-like growth factor 1, rhIGF-1), for treating symptoms of Rett syndrome (RTT) in a pediatric population using a double-blind crossover study design. Methods: Thirty girls with classic RTT in postregression stage were randomly assigned to placebo or rhIGF-1 in treatment period 1 and crossed over to the opposite assignment for period 2 (both 20 weeks), separated by a 28-week washout period...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29554407/aerophagia-and-subcutaneous-emphysema-in-a-patient-with-rett-syndrome
#11
Christine M Clark, Shivani Shah-Becker, Abraham Mathew, Neerav Goyal
A patient with Rett syndrome presented to our Emergency Department with extensive subcutaneous emphysema in the cervical region, chest wall, upper extremities, and back. Diagnostic evaluation revealed a mucosal tear in the posterior pharyngeal wall and an abscessed retropharyngeal lymph node, but she had no known history of trauma to account for these findings. This report discusses the occurrence of subcutaneous emphysema in the context of a rare neurodevelopmental disorder and proposes accentuated aerophagia, a sequela of Rett syndrome, as the most likely underlying mechanism...
March 2018: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/29551600/typical-vs-atypical-combining-auditory-gestalt-perception-and-acoustic-analysis-of-early-vocalisations-in-rett-syndrome
#12
Florian B Pokorny, Katrin D Bartl-Pokorny, Christa Einspieler, Dajie Zhang, Ralf Vollmann, Sven Bölte, Markus Gugatschka, Björn W Schuller, Peter B Marschik
BACKGROUND: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. AIMS: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis. METHODS AND PROCEDURES: We extracted N = 363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT...
March 15, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29545689/what-are-patients-with-rett-syndrome-interested-in
#13
Daisuke Hirano, Takamichi Taniguchi
[Purpose] Rett syndrome is a severe neurodevelopmental disease; individuals typically have no verbal skills or purposeful hand movements. In clinical settings, knowledge of their interests would be helpful for therapy. Therefore, we investigated the interests of Rett syndrome patients. [Subjects and Methods] In 2016, we sent a questionnaire regarding the interests of individuals with Rett syndrome to 1,016 directors of schools for special needs education and 204 directors of rehabilitation departments (130 facilities for persons with severe motor and intellectual disabilities, 73 wards for patients with severe motor and intellectual disabilities, and the National Hospital Organization and National Center Hospital, and the National Center of Neurology and Psychiatry) in Japan...
February 2018: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29544889/a-novel-stxbp1-mutation-causes-typical-rett-syndrome-in-a-japanese-girl
#14
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29540297/mecp2-overexpression-inhibits-proliferation-migration-and-invasion-of-c6-glioma-by-modulating-erk-signaling-and-gene-expression
#15
Kedarlal Sharma, JuhiSingh, Emma E Frost, Prakash P Pillai
MethylCpG binding protein-2 (MeCP2) is an epigenetic regulator and essential for brain development.MeCP2 mutations are associated with a spectrum of neuro-developmental disorders that vary depending on the patient gender, most notably Rett Syndrome. MeCP2 is essential for normal neuronal maturation, and glial cell function in the brain. Besides, its role in neurodevelopmental disorders, MeCP2 is involved in many cancers such as breast, colorectal, lung, liver, and prostate cancer. Glioma is the most lethal form of brain cancer...
March 11, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29536504/respiratory-morbidity-in-rett-syndrome-an-observational-study
#16
Jessica MacKay, Helen Leonard, Kingsley Wong, Andrew Wilson, Jenny Downs
AIM: Respiratory illness is a major cause of morbidity and mortality in Rett syndrome. This study investigated respiratory morbidity and relationships with age, mutation type, feeding, and walking status. METHOD: Families registered with the InterRett database (n=399) provided data on the health of their child with Rett syndrome (age 2-57y). Hospital admissions because of lower respiratory tract infection (LRTI) over a 5-year exposure period were investigated by age, mutation type, enteral feeding, and walking status...
March 14, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29534967/mitochondrial-dysfunction-in-dopaminergic-neurons-differentiated-from-exfoliated-deciduous-tooth-derived-pulp-stem-cells-of-a-child-with-rett-syndrome
#17
Saki Hirofuji, Yuta Hirofuji, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Hiroshi Sato, Fumiko Takayama, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonaka
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome...
March 10, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29523700/total-rna-sequencing-of-rett-syndrome-autopsy-samples-identifies-the-m4-muscarinic-receptor-as-a-novel-therapeutic-target
#18
Rocco Gogliotti, Nicole Fisher, Branden Stansley, Carrie Jones, Craig Lindsley, Jeffrey Conn, Colleen Niswender
Mutations in the Methyl CpG Binding Protein 2 (MECP2) gene are responsible for the neurodevelopmental disorder Rett syndrome (RTT). MeCP2 is a DNA-binding protein whose abundance and ability to complex with HDAC3 is linked to the regulation of chromatin structure. Consequently, loss-of-function mutations in MeCP2 are predicted to have broad effects on gene expression. However, to date, studies in mouse models of RTT have identified a limited number of gene or pathway-level disruptions, and even fewer genes have been identified that could be considered amenable to classical drug discovery approaches...
March 9, 2018: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29522154/rsrc1-mutation-affects-intellect-and-behaviour-through-aberrant-splicing-and-transcription-downregulating-igfbp3
#19
Yonatan Perez, Shay Menascu, Idan Cohen, Rotem Kadir, Omer Basha, Zamir Shorer, Hila Romi, Gal Meiri, Tatiana Rabinski, Rivka Ofir, Esti Yeger-Lotem, Ohad S Birk
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation causes an autosomal recessive syndrome of intellectual disability, aberrant behaviour, hypotonia and mild facial dysmorphism with normal brain MRI. Further, we show that RSRC1 is ubiquitously expressed, and that the RSRC1 mutation triggers nonsense-mediated mRNA decay of the RSRC1 transcript in patients' fibroblasts...
April 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29519750/de-novo-hdac8-mutation-causes-rett-related-disorder-with-distinctive-facial-features-and-multiple-congenital-anomalies
#20
Tomoko Saikusa, Munetsugu Hara, Kazuhiro Iwama, Kotaro Yuge, Chihiro Ohba, Jun-Ichiro Okada, Tadashi Hisano, Yushiro Yamashita, Nobuhiko Okamoto, Hirotomo Saitsu, Naomichi Matsumoto, Toyojiro Matsuishi
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele...
March 5, 2018: Brain & Development
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