A semi-standardized music therapy intervention for girls with Rett syndrome: A descriptive essay

Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting in a wide range of functional impairments and therefore greatly impacts the lives of both patients and their families. While genetic and medical aspects have been studied for several decades, rehabilitation intervention research is still in its infancy. In this study, the investigating researchers have presented a rehabilitative framework by using music therapy for girls with RTT. This model is founded upon the use of music therapy in light of Stern’s proposal of subjective experience and affect attunement; it also refers to Rosenbaum’s family-centered rehabilitation medicine perspective. This study both describes the theory behind this intervention and presents a newly developed outcome measure. This novel tool may have future clinical and research applications. Music therapy for patients with RTT has not been well researched yet, and as a result, is not universally recommended. However this study’s findings suggest that music therapy is an important component of multidisciplinary therapy. Further collaborative research should be encouraged in order to study and implement the use of music therapy in the treatment of severe disabilities. Projects such as the Enablin+program with the support from the European Commission constitute fundamental tools in promoting integrative medical research and international networks.

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Wide phenotypic spectrum of human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

10.1101/2020.07.12.189621 ◽

2020 ◽

Author(s):

Rebecca SF Mok ◽

Wenbo Zhang ◽

Taimoor I Sheikh ◽

Isabella R Fernandes ◽

Leah C DeJong ◽

...

Keyword(s):

Stem Cell ◽

Rett Syndrome ◽

Neurodevelopmental Disorder ◽

Synaptic Function ◽

Proper Function ◽

Loss Of Function ◽

Electrode Arrays ◽

Burst Frequency ◽

Wide Range ◽

Excitatory Neurons

ABSTRACTRett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) that is a global transcriptional regulator. Mutations in the methyl-binding domain (MBD) of MECP2 disrupt its interaction with methylated DNA required for proper function in the brain. Here, we investigate the effect of a novel MECP2 L124W missense mutation in the MBD in comparison to MECP2 null mutations. L124W protein had a limited ability to disrupt heterochromatic chromocenters due to decreased binding dynamics. We isolated two pairs of isogenic WT and L124W induced pluripotent stem cell lines. L124W induced excitatory neurons expressed stable protein, exhibited only increased input resistance and impaired voltage-gated Na+ and K+ currents, and their neuronal dysmorphology was limited to reduced dendritic complexity. Three isogenic pairs of MECP2 null neurons had the expected more pronounced morphological and electrophysiological phenotypes, exhibiting decreased soma area, dendrite length, capacitance and excitatory synaptic function. We examined development and maturation of excitatory neural networks using micro-electrode arrays to detect alterations in RTT connectivity. The L124W neurons had no detectable changes in network circuitry features, in contrast to MECP2 null neurons that suffered a significant change in synchronous network burst frequency and a transient extension of network burst duration. Our results from stem cell-derived RTT excitatory neurons reveal a wide range of morphological, electrophysiological and circuitry phenotypes that reflect the severity of the MECP2 mutation.

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The GAIRS Checklist: A Useful Global Assessment Tool In Patients With Rett Syndrome

10.21203/rs.3.rs-679708/v1 ◽

2021 ◽

Author(s):

Rosa Angela Fabio ◽

Martina Semino ◽

Samantha Giannatiempo

Keyword(s):

Rett Syndrome ◽

Convergent Validity ◽

Global Assessment ◽

Assessment Tool ◽

Neurodevelopmental Disorder ◽

Divergent Validity ◽

Internal Reliability ◽

Wide Range ◽

Two Factors ◽

Test Retest Reliability

Abstract Background: Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the assessment of the abilities of Rett patients. This study proposes an analysis and first validation of a Global Assessment and Intervention in Rett syndrome (GAIRS) Checklist for assessing behavioral, intellectual, academic, neuropsychological and psychosocial manifestations in patients with Rett Syndrome. We administered the GAIRS Checklist to 113 Italian patients with Rett Syndrome aged 4-42.Aims of this study: to examine the psychometric characteristics of the GAIRS Checklist. Moreover, the aim is also to examine the validity of GAIRS with test-retest correlation, convergent validity with similar functional measurements, such as the Vineland scales, and divergent validity with severity of disease scale, such as the RARS scale and severity of neuropsychiatric evaluations.Results: All 10 subscales of GAIRS were positively and significantly related to each other and to the total GAIRS score, and the subscales showed high levels of alpha scores. Principal axis factoring suggested two factors that explain 60% of the variance. Internal Reliability, test-retest reliability and Correlation for Concurrent and Divergent Validity showed good psychometric properties.Conclusion:The GAIRS Checklist used for Rett syndrome is acceptable and feasible to complete assessment in a clinical setting. Moreover, it can detect the complexity of this disease and may suggest the next step in terms of specific training in Rett syndrome.

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Application of the Innovative and Non-Invasive Technique, Molecular Music Therapy (MMT), Bio-Frequency Therapy, for the Treatment of a Wide Range of Disorders and Pathologies, with Consequent Verification of Molecular Parameters by Using Bi-Digital O-Ring Test (BDORT)

Acupuncture & Electro-Therapeutics Research ◽

10.3727/036012920x15779969212928 ◽

2020 ◽

Vol 44 (3) ◽

pp. 177-189

Author(s):

Momir Dunjic ◽

Stefano Turini ◽

Dejan Krstic ◽

Katarina Dunjic ◽

Marija Dunjic ◽

...

Keyword(s):

Amino Acid ◽

Music Therapy ◽

Amino Acid Sequences ◽

Sirtuin 1 ◽

Ring Test ◽

Invasive Technique ◽

Specific Gene ◽

Radiofrequency Therapy ◽

Wide Range ◽

Clinical Pictures

Radiofrequency therapy is an unconventional method, already applied for some time, with numerous results in numerous clinical pictures. Our group has developed a software, later called SONGENPROT-SOLARIS, capable of directly converting nucleotide sequences (DNA and/or RNA) and amino acid sequences (polypeptides and proteins) into musical sequences, based on mathematic matrices, designed by the French physicist and musician Joel Sternheimer, which allows to associate a musical note with a nucleotide or an amino acid. Innovation in our software is that, in the algorithm that defines it, a variant is directly implemented that allows the reproduction of sounds, phase-shifted by 30 Hz, between one ear and another reproducing the phenomenon of Binaural Tones, capable of induce a specific brain activity and also the release of particles called solitons. Thanks to this software we have developed a technique called MMT (Molecular Music Therapy) and currently, we are in the phase of applying the technique on a cohort of 91 patients, with a high spectrum of clinical pictures, examining the same, using the technique Bi-Digital-ORing-Test (BDORT), before and after treatment with MMT. Aim of project is to stimulate the expression of a specific gene (the same genetic sequence that the patient listens to, translated into music), only through the use of sound sequences. We have concentrated our attention on three main molecules: Sirtuin-1, Telomers and TP-53. The results obtained with BDORT, after treatment with MMT, showed a significant increase in the values of the three molecules, on all the examined patients, demonstrating the operative efficacy of the technique and the its applicability to numerous diseases. In order to confirm the data obtained by BDORT, we propose, with the help of an accredited laboratory, to perform epigenetic tests on the three parameters listed above, paving the way to understanding how frequencies can influence gene expression.

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The CoGenT3 Study: Cognition and Gender Trends in Three American Generations

Innovation in Aging ◽

10.1093/geroni/igaa057.2975 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

pp. 817-817

Author(s):

Shana Stites

Keyword(s):

Cognitive Impairment ◽

Quantitative Methods ◽

Cognitive Testing ◽

Library Science ◽

Sexual And Gender Minorities ◽

Functional Impairments ◽

Gender Minorities ◽

Wide Range ◽

And Gender ◽

New Research

Abstract Many studies find gender differences in how older adults’ report on their memory, perform on cognitive testing, and manage functional impairments that can accompany cognitive impairment. Thus, understanding gender’s effects in aging and Alzheimer’s research is key for advancing methods to prevent, slow, manage, and diagnosis cognitive impairment. Our study, CoGenT3 – The study of Cognition and Gender in Three Generations – seeks to disambiguate the effects of gender on cognition in order to inform a conceptual model, guide innovations in measurement, and support future study. To accomplish this ambitious goal, we have gathered an interdisciplinary team with expertise in psychology, cognition, sexual and gender minorities, library science, measurement, quantitative methods, qualitative methods, and gender and women’s studies. The team benefits from the intersections of expertise in being able to build new research ideas, gain novel insights, and evaluate a wide-range of actions and re-actions but this novelty can also raise challenges.

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RARE-59. CARDIAC REMODELING IN PATIENTS WITH CHILDHOOD-ONSET CRANIOPHARYNGIOMA – RESULTS OF HIT-ENDO AND KRANIOPHARYNGEOM 2000/2007

Neuro-Oncology ◽

10.1093/neuonc/noaa222.769 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii455-iii455

Author(s):

Panjarat Sowithayasakul ◽

Leona Katharin Buschmann ◽

Svenja Boekhoff ◽

Hermann L Müller

Keyword(s):

Cardiac Remodeling ◽

Disease Duration ◽

Interventricular Septum ◽

Left Ventricular ◽

Internal Diameter ◽

Functional Impairments ◽

Childhood Onset ◽

Anthropometric Parameters ◽

Hypothalamic Obesity ◽

Wide Range

Abstract BACKGROUND Hypothalamic obesity caused by childhood–onset craniopharyngioma results in long–term cardiovascular morbidity. Knowledge about clinical markers and risk factors is rare. PATIENTS AND METHODS A cross–sectional study on transthoracic echocardiographic parameters was performed to determine the associations with clinical and anthropometric parameters in 36 patients with childhood-onset adamantinomatous craniopharyngioma. RESULTS Body mass index (BMI) correlated with the thickness of interventricular septum in diastole (IVSd) (r=0.604, p<0.001) and left ventricular diastolic posterior wall in diastole (LVPWd) (r=0.460, p=0.011). Due to wide range of disease duration, 17 pediatric and 19 adult patients were analyzed separately. In the adult subgroup (age at study ≥18 years), BMI correlated with IVSd (r=0.707, p=0.003), LVPWd (r=0.592, p=0.020) and left ventricular internal diameter in diastole (LVIDd) (r=0.571, p=0.026). In the pediatric subgroup (age at study <18 years), no correlation between cardiac parameters and BMI was observed. Only LVIDd correlated with disease duration (r=0.645, p<0.001). All cardiac functions were within the normal range, indicating no association with severe functional impairments. CONCLUSIONS Cardiac remodeling in patients with childhood-onset craniopharyngioma correlates with the degree of hypothalamic obesity and disease duration. However, echocardiography has limited sensitivity in craniopharyngioma patients with obesity, so cardiac magnetic resonance imaging (MRI) should be considered as an alternative diagnostic approach for patients with craniopharyngioma and hypothalamic obesity.

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“A Soul-Searing Process”: Trauma in the Civil Service

The Second Red Scare and the Unmaking of the New Deal Left ◽

10.23943/princeton/9780691153964.003.0007 ◽

2012 ◽

Author(s):

Landon R. Y. Storrs

Keyword(s):

Physical Health ◽

Subjective Experience ◽

Civil Service ◽

Civic Participation ◽

Economic Security ◽

Personal Relationships ◽

Ethical Decisions ◽

Wide Range ◽

Mental And Physical Health

This chapter looks at private letters and other unpublished sources about defendants other than the Keyserlings to recapture the subjective experience of being investigated, not as an exercise in voyeurism but to explain why the effects were so profound. The experience of being under loyalty investigation produced a wide range of responses from individuals and had many long-lasting effects—on their economic security, mental and physical health, personal relationships, and civic participation. Many loyalty defendants preferred to remain silent about these humiliating experiences, but examining them is necessary to establish the context in which these people made difficult strategic and ethical decisions about how best to protect themselves.

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Occupational therapy in palliative care

10.1093/med/9780198821328.003.0021 ◽

2021 ◽

pp. 206-212

Author(s):

Maria Denise Pessoa Silva ◽

Fiona Rolls ◽

Lynne White ◽

Tamsin Longley ◽

Jane Murphy ◽

...

Keyword(s):

Palliative Care ◽

Occupational Therapy ◽

Occupational Therapist ◽

Evidence Based ◽

Shortness Of Breath ◽

Functional Impairments ◽

Functional Difficulties ◽

Wide Range ◽

Care At Home

Occupational therapy in palliative care aims to help patients achieve their optimum independence for as long as possible in activities that are important to them. There is a wide range of difficulties and symptoms experienced by palliative patients with which occupational therapy can intervene, which may include physical disabilities and functional impairments, extreme fatigue, anxiety, shortness of breath, and cognitive deficits. This chapter describes the broad range of areas in which the occupational therapist works in palliative care together with the multidisciplinary team. They take a key role in assessing and treating functional difficulties, organizing and facilitating safe discharge and care at home, with the aim of achieving best quality of life and avoiding admission to hospital whenever possible. The occupational therapist analyses and assesses specific problems and provides a treatment programme or solution to help the patient remain as independent as possible, using clinical reasoning and evidence-based practice.

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Consensus guidelines on managing Rett syndrome across the lifespan

BMJ Paediatrics Open ◽

10.1136/bmjpo-2020-000717 ◽

2020 ◽

Vol 4 (1) ◽

pp. e000717

Author(s):

Cary Fu ◽

Dallas Armstrong ◽

Eric Marsh ◽

David Lieberman ◽

Kathleen Motil ◽

...

Keyword(s):

Primary Care ◽

Rett Syndrome ◽

Health Professionals ◽

Best Practice ◽

Neurodevelopmental Disorder ◽

Primary Care Providers ◽

Care Providers ◽

Medical Comorbidities ◽

Modified Delphi ◽

Delphi Approach

BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.MethodsInformed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.ResultsTypical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus.ConclusionsThe overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals.

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Peer-Interaction Strategies: Fostering Positive Experiences for Students With Severe Disabilities in Inclusive Music Classes

Update Applications of Research in Music Education ◽

10.1177/8755123318820401 ◽

2019 ◽

Vol 37 (3) ◽

pp. 28-35 ◽

Cited By ~ 4

Author(s):

Ellary A. Draper ◽

Laura S. Brown ◽

Judith A. Jellison

Keyword(s):

Students With Disabilities ◽

Peer Interaction ◽

Task Complexity ◽

Severe Disabilities ◽

Positive Interactions ◽

Typically Developing ◽

Wide Range ◽

Regular Classrooms ◽

Working Together ◽

Students With Severe Disabilities

Too often, students with disabilities in regular classrooms have limited access to the regular curriculum, and for students with severe disabilities, interactions are often with paraprofessionals, not typical classmates. The present study is grounded in action research methods in that an elementary teacher and the authors worked together for the purpose of designing, implementing, and evaluating interaction guidelines between her students with severe disabilities and their typically developing classmates. Overall, instruction and implementation of peer-interaction activities for working together and helping each other were efficient and resulted in high rates of positive interactions. Although the students with disabilities needed different kinds of support, they were capable of participating in a wide-range of music activities and interacting with their typical classmates. Differences in frequencies and quality of interactions are attributed primarily to task complexity, individual needs, and partner assignments.

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Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph16173075 ◽

2019 ◽

Vol 16 (17) ◽

pp. 3075

Author(s):

Maria Bernarda Pitzianti ◽

Angelo Santamaria Palombo ◽

Susanna Esposito ◽

Augusto Pasini

Keyword(s):

Rett Syndrome ◽

Genetic Basis ◽

Normal Development ◽

Clinical Course ◽

Neurodevelopmental Disorder ◽

Dominant Inheritance ◽

Clinical Form ◽

Inactivation Pattern ◽

History Of

Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. Originally, RTT was considered lethal in males as it has an X-linked dominant inheritance. However, although this syndrome has a higher incidence in females, rare cases are also documented in males. Here, we describe the case of an 11-year-old male patient with a microduplication MECP2 Xq28. Our patient is currently living, while his older brother with the same mutation died at the age of 9 years. We showed that the role of MECP2 as an epigenetic modulator and the X-chromosome inactivation pattern can explain the lethal clinical form of the older brother with the same microduplication MECP2 Xq28 presented by our patient who is still alive. Given the limited case history of RTT in males, further studies are needed to better characterize this syndrome in males and consequently improve the currently available therapeutic strategies.

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