scholarly journals Rett Syndrome. Guidelines for Individual Intervention

2006 ◽  
Vol 6 ◽  
pp. 1504-1516 ◽  
Author(s):  
Meir Lotan
Keyword(s):  
Down Syndrome ◽  
Functional Status ◽  
Present Article ◽  
Rett Syndrome ◽  
Therapeutic Intervention ◽  
Neurological Disorder ◽  
Intervention Program ◽  
Well Being ◽  
Neurological Dysfunction ◽  
Common Intervention

Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome. Patients with RS are characterized by an array of neurological and orthopedic difficulties that mandate an intensive therapeutic intervention program for the duration of the individual's life. Many aspects of the client’s well-being and functional status depend on the therapeutic intervention she receives and on her compliance to it. This article will briefly review common intervention approaches for individuals with RS and their present day's application. Due to the notion that individual intervention is the foundation on which progress and development of the functional gains rests, the present article will place basic guidelines for individual intervention with clients with RS. The article is mainly based on the clinical experience of the author and others working with individuals with RS.

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

2018 ◽  
Vol 28 (4) ◽  
pp. 505-520 ◽  
Author(s):  
Yuka Mori ◽  
Jenny Downs ◽  
Kingsley Wong ◽  
Helen Leonard
Keyword(s):  
Rett Syndrome ◽  
Neurological Disorder ◽  
Well Being ◽  
Longitudinal Effects

scholarly journals Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

2006 ◽  
Vol 6 ◽  
pp. 1517-1541 ◽  
Author(s):  
Meir Lotan ◽  
Bruria Ben-Zeev
Keyword(s):  
Down Syndrome ◽  
Present Article ◽  
Rett Syndrome ◽  
Current Literature ◽  
Clinical Characteristics ◽  
Genetic Disorder ◽  
Linked Gene ◽  
Classical Expression ◽  
Basic Understanding ◽  
The Individual

Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population.

scholarly journals Engaging and Empowering Parents of Children with Down Syndrome-The Role of Parents Support Group

2018 ◽  
Vol 17 (1) ◽  
Author(s):  
Asrul Abdul Wahab ◽  
Ezura Madiana Md. Monoto
Keyword(s):  
Down Syndrome ◽  
Support Group ◽  
Intervention Program ◽  
Public Awareness ◽  
Well Being ◽  
Individual Autonomy ◽  
Children With Down Syndrome ◽  
The Family ◽  
Role Of Parents ◽  
The Impact

Children with Down syndrome are known to have intellectual disability, developmental milestone delay and may also have associated medical conditions. Having a child with Down syndrome could be physically and emotionally challenging to the affected family members. The impact on a family can be multifaceted which can alter the family dynamics and harmony. Most parents felt inadequate with the information given by the healthcare providers. Parents support group plays an important role to support and provide information and resources to other parents of children with Down syndrome. The knowledge and experience on raising the children with Down syndrome are shared with the new parents. This includes the importance of Early Intervention Program (EIP), inclusive education, the benefits of People with Disability card, sharing success story of people with Down syndrome and providing emotional support to the family to boost their confidence and keeping up their positive spirit in raising their children, regardless of their religions and beliefs. Apart from that, we also organize and participate in activities to raise public awareness, advocating for the rights, inclusion and well being of people with Down syndrome, through social and mass media and annual celebration of World Down Syndrome Day on the 21st March. We promote the benefits of inclusive environment so that people with Down syndrome are able to enjoy full and equal rights on an equal basis with other people; enabling them to live, work and participate with confidence and individual autonomy, fully included in society alongside their friends and peers. As healthcare professionals and parents of a child with Down syndrome, we are sharing our own experiences in engaging with other parents of children with Down syndrome to understand the issues and concerns, sharing resources available around them and ways to support them throughout the journey of raising a child with Down syndrome.

Efficacy of Crisis Intervention

Crisis ◽  
1999 ◽  
Vol 20 (2) ◽  
pp. 78-85 ◽  
Author(s):  
Thomas Reisch ◽  
Petra Schlatter ◽  
Wolfgang Tschacher
Keyword(s):  
Crisis Intervention ◽  
Intervention Program ◽  
Suicide Ideation ◽  
Indirect Evidence ◽  
Well Being ◽  
Term Therapy ◽  
Contributing Factors ◽  
Step Therapy ◽  
Long Term Therapy ◽  
The Impact

This study assesses the efficacy of the treatment approach implemented in the Bern Crisis Intervention Program, where particular emphasis is placed on the remediation of suicide ideation and suicidal behavior, and depression, fear, and phobia are generally considered to be contributing factors. Four questionnaires addressing psychopathology, emotional well-being, social anxiety, and personality were administered prior to and after the treatment of 51 patients over a period of 2 to 3 weeks. The reduction of symptoms contributing to suicidal ideation and behavior was interpreted as indirect evidence of an antisuicidal effect of the program. Significant improvements were found in the psychopathology ratings, with depression and anxiety showing the largest reductions. The impact on personality and social phobia, however, was only moderate, and on average patients still exhibited symptoms after attending the program. This residual symptomatology points to the necessity of introducing a two-step therapy approach of intensive intervention targeted at the precipitating causes of the crisis, augmented by long-term therapy to treat underlying problems.

scholarly journals Quality of Life: Changes in Self-Perception in People with down Syndrome as a Result of Being Part of a Football/Soccer Team. Self-Reports and External Reports

2021 ◽  
Vol 11 (2) ◽  
pp. 226
Author(s):  
Rocío Camacho ◽  
Cristina Castejón-Riber ◽  
Francisco Requena ◽  
Julio Camacho ◽  
Begoña Escribano ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Personal Development ◽  
Social Inclusion ◽  
Evaluation Process ◽  
Well Being ◽  
Self Perception ◽  
Football Team ◽  
Soccer Team

The hypothesis posed was whether being part of a football/soccer team influenced the quality of life (QL) of the people who participated in it since their perception of themselves is enhanced by factors, such as self-determination, social inclusion, emotional well-being, physical well-being, material well-being, rights, personal development, and internal relationships. The objective was to evaluate the QL of people with Down Syndrome (DS) using their self-perception (n = 39) and the perception of the informants (family members, teachers) (n = 39). The KidsLife-Down Scale, with a few modifications, was used. In general, differences of opinion between the subgroups of participants with DS and informants showed that results were higher in terms of perception for participants in the DS subgroup. Scores for all variables were higher for those participants with DS who said they did engage in practicing competitive football/soccer. Although the perception of informants provides a great deal of information regarding the QL of participants with DS, participants with DS should also be involved in the evaluation process and their self-perceptions taken into account. It is not participating in a football team that causes the conclusions of the study, but training (which includes the friendly matches that are played), the cause correlated with the improvements detected in the athlete’s DS.

scholarly journals Family Variables and Quality of Life in Children with Down Syndrome: A Scoping Review

2021 ◽  
Vol 18 (2) ◽  
pp. 419
Author(s):  
Anna Lee ◽  
Kathleen Knafl ◽  
Marcia Van Riper
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Scoping Review ◽  
Personal Development ◽  
Well Being ◽  
Future Research ◽  
Cross Sectional ◽  
Children With Down Syndrome ◽  
Family Variables

The purpose of this scoping review was to identify the family and child quality of life variables that have been studied in relation to one another in children with Down syndrome, the frequency with which different relationships have been studied, and the extent to which family variables were the focus of the research aims. A literature search was conducted to find studies published between January 2007 and June 2018. The initial search yielded 2314 studies; of these, 43 were selected for a final review. Researchers most often addressed family resources and family problem-solving and coping concerning child personal development and physical well-being. Little attention to child emotional well-being was observed, with none considering family appraisal of child emotional well-being. The relationship between family variables and child QoL rarely was the primary focus of the study. Methodologically, most reviewed studies used cross-sectional designs, were conducted in North America and based on maternal report. From future research considering the issues found in this review, healthcare providers can obtain an in-depth understanding of relationships between children and family variables.

The perspective of emerging adults with Down syndrome – On quality of life and well-being

2021 ◽  
pp. 174462952110300
Author(s):  
Kjersti Wessel Jevne ◽  
Marit Kollstad ◽  
Anne-Stine Dolva
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Emerging Adults ◽  
Communication Technology ◽  
Well Being ◽  
Subjective Well Being ◽  
Safe Place ◽  
Social Leisure ◽  
Information And Communication

This study explored the thoughts of emerging adults with Down syndrome on quality of life and subjective well-being. Eight 22-year-olds participated in interviews. Data was analysed with content analysis. Four themes were revealed: Work based on interest and capability, having an active and social leisure life, a safe place to live and the use of information and communication technology. Two context related patterns were identified showing that quality of life and subjective well-being were related to individualised support to enhance independency in work, social leisure and place of living. Knowledge of their perception of independency and their awareness of needing customised help and support is valuable. This study supports the proposed emerging Quality of Life Supports Paradigm in the field of intellectual disabilities, which integrates key concepts of quality of life and supports.

Women’s Perceptions of Safety After Domestic Violence: Exploring Experiences of a Safety Contact Program

Affilia ◽  
2019 ◽  
Vol 35 (2) ◽  
pp. 260-273
Author(s):  
Tania Westwood ◽  
Sarah Wendt ◽  
Kate Seymour
Keyword(s):  
Family Violence ◽  
Emotional Support ◽  
Intervention Program ◽  
Well Being ◽  
Small Scale ◽  
Perceived Safety ◽  
Perception Of Safety ◽  
Women’S Perceptions ◽  
Perceptions Of Safety ◽  
Integrated Program

This article explores women’s experiences of the women’s safety services associated with a South Australian integrated program for male perpetrators of domestic and family violence. As small scale and exploratory, the study aimed to understand impact of such services on women’s perceptions of safety. Interviews were conducted by telephone, using a semi-structured format, with 14 women whose partners or ex-partners had been referred to a perpetrator intervention program. Informed by a feminist standpoint perspective, thematic analysis was used to explore each woman’s experience and perception of safety. The findings of the study suggest that integrated domestic and family violence programs can improve women’s feelings of safety through the application of practical safety planning, timely intervention, emotional support, and trauma-focused practice. Importantly, while the behaviors and actions of perpetrators were clearly relevant to women’s perceived safety, it was apparent that focusing on women’s strengths and capacity for recovery can significantly impact on their continued sense of safety and well-being. This article also reiterates the importance of women’s perspectives in evaluating the effectiveness of perpetrator interventions.

scholarly journals Down Syndrome and Quality of Life: A Case Report

2015 ◽  
Vol 3 (2) ◽  
pp. 112-114
Author(s):  
Hilary L. Schroeder ◽  
Marianinha Joanes ◽  
Andre Small ◽  
Raghu Maramraj,
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Early Onset ◽  
Quality Care ◽  
Well Being ◽  
Cardiac Complications ◽  
African American Female ◽  
Crucial Component ◽  
Patient’S History

  Background: Quality of life is considered a crucial component to the well-being of patients with Down syndrome. The strength of quality care through stable social and psychological interactions has built a framework for a positive well-being for patients with Down syndrome, improving their quality of life. Case: A 55-year-old African American female with a history of Down syndrome, congenital heart disease, and newly-diagnosed early onset Alzheimer’s disease presented with an arm contusion resulting from regular caretaking. The patient’s history was reviewed, and the complexity of her condition was discovered. While a subset of Down syndrome patients have cardiac complications and others have early-onset Alzheimer’s, our patient had both. We believe this complicated her condition. After the diagnosis of Alzheimer’s was made, the caregivers noticed a significant decline in her ability to communicate and continue day-to-day activities. Despite the decline in functions, a positive mood was apparent. Conclusion: Multiple medical interventions, along with strong family support, positively contributed to the patient’s quality of life. Therapies targeting cognition could result in the maintenance of quality of life and, ultimately, lower health care costs.

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