scholarly journals The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

2006 ◽  
Vol 6 ◽  
pp. 1737-1749 ◽  
Author(s):  
Meir Lotan ◽  
Lilit Zysman
Keyword(s):  
Quality Of Life ◽  
Gastroesophageal Reflux ◽  
Rett Syndrome ◽  
Functional Ability ◽  
Digestive System ◽  
Failure To Thrive ◽  
Genetic Origin ◽  
Functional Difficulties

Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life. One of the affected systems is the digestive system, where 74% of persons with RS have abnormal functioning. The affected digestive system causes this population to present an array of problems, such as gastroesophageal reflux (GER), constipation, and malnutrition, leading to failure to thrive (FTT), which resolves in reduced functional ability. Due to the severe effects of the dysfunctional digestive system of individuals with RS, this article will describe the problems common to this population, as well as propose some clinical suggestions for intervention. .

scholarly journals The Israeli Rett Syndrome Center. Evaluation and Transdisciplinary Play-Based Assessment

2006 ◽  
Vol 6 ◽  
pp. 1302-1313 ◽  
Author(s):  
Meir Lotan ◽  
Iris Manor-Binyamini ◽  
Cochavit Elefant ◽  
Judy Wine ◽  
Einat Saraf ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Potential Model ◽  
Medical Center ◽  
Genetic Origin ◽  
Rehabilitation Team ◽  
Residential Settings ◽  
Functional Difficulties ◽  
The Individual ◽  
Similar Evaluation

Rett syndrome (RS) is a neuro-developmental syndrome of genetic origin, which mainly affects women. Individuals diagnosed with RS exhibit a variety of functional difficulties, which impair their quality of life. The variety of impairments and the differences between each child makes it necessary to administer skilled treatment, individually tailored to each client. Since the foundation of proper treatment is based on a structured, well administered, insightful assessment, the individual with RS with her complex array of difficulties should benefit from such a procedure. This notion has led to the establishment of the Israel Rett Syndrome Center. The center includes a medical branch located at the Safra Shildren's Medical Center at Tel Hashomer and an education/rehabilitation team, who performs assessments in special education facilities and residential settings throughout Israel. The assessment team works by means of arena assessment according to the concept of play-based assessment. This article presents the working model used by the education/rehabilitation team at the Israeli Rett Syndrome Center. The principles and working characteristics of the Israel Rett Syndrome Center team are suggested here as a potential model for establishing additional teams, presenting similar evaluation services for other individuals with RS as well as for analogous populations.

scholarly journals Laparoscopic Fundoplication for the Surgical Management of Gastroesophageal Reflux Disease in Children

2020 ◽  
Vol 30 (02) ◽  
pp. 150-155
Author(s):  
Charlene Dekonenko ◽  
George W. Holcomb
Keyword(s):  
Quality Of Life ◽  
Surgical Treatment ◽  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Laparoscopic Fundoplication ◽  
Recent Literature ◽  
Failure To Thrive ◽  
Life Threatening

AbstractGastroesophageal reflux (GER) is common in infants generally resolving in early childhood. However, gastroesophageal reflux disease (GERD) is diagnosed when persistent troublesome symptoms and/or complications of GER develop. These symptoms and complications can significantly affect the quality of life, thus requiring medical or surgical treatment. Medical management is typically trialed, but operative treatment is indicated with severe symptoms such as aspiration pneumonia, apneic episodes, bradycardia, apparent life-threatening events, severe vomiting, failure to thrive, esophagitis, stricture, and failed medical therapy. We review the recent literature on the indications and outcomes for laparoscopic fundoplication in the management of pediatric GERD.

Influence of psychopathological changes on quality of life after laparoscopic fundoplication for the treatment of gastroesophageal reflux

2010 ◽  
Vol 23 (1) ◽  
pp. 8-12 ◽  
Author(s):  
Á. Díaz de Liaño ◽  
C. Yárnoz ◽  
C. Artieda ◽  
A. Artajona ◽  
L. Fernández ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Gastroesophageal Reflux ◽  
Laparoscopic Fundoplication

Quality of life in type 2 diabetics with gastroesophageal reflux disease: a case control study

2013 ◽  
Vol 45 (4) ◽  
pp. 194-199 ◽  
Author(s):  
R. Promberger ◽  
A. Spitzer ◽  
J. Ott ◽  
J. Lenglinger ◽  
W. Eilenberg ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Case Control Study ◽  
Case Control ◽  
Type 2 Diabetics ◽  
Control Study

scholarly journals Diagnosis and management of gastroesophageal reflux disease

2014 ◽  
Vol 27 (3) ◽  
pp. 210-215 ◽  
Author(s):  
Maria Aparecida Coelho de Arruda Henry
Keyword(s):  
Quality Of Life ◽  
Surgical Treatment ◽  
Gastroesophageal Reflux Disease ◽  
Drug Use ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Disease Diagnosis ◽  
Clinical Treatment ◽  
Atypical Symptoms

INTRODUCTION: Gastroesophageal reflux disease (GERD) is probably one of the most prevalent diseases in the world that also compromises the quality of life of the affected significantly. Its incidence in Brazil is 12%, corresponding to 20 million individuals. OBJECTIVE: To update the GERD management and the new trends on diagnosis and treatment, reviewing the international and Brazilian experience on it. METHOD: The literature review was based on papers published on Medline/Pubmed, SciELO, Lilacs, Embase and Cochrane crossing the following headings: gastroesophageal reflux disease, diagnosis, clinical treatment, surgery, fundoplication. RESULTS: Various factors are involved on GERD physiopathology, the most important being the transient lower esophageal sphincter relaxation. Clinical manifestations are heartburn, regurgitation (typical symptoms), cough, chest pain, asthma, hoarseness and throat clearing (atypical symptoms), which may be followed or not by typical symptoms. GERD patients may present complications such as peptic stenosis, hemorrhage, and Barrett's esophagus, which is the most important predisposing factor to adenocarcinoma. The GERD diagnosis must be based on the anamnesis and the symptoms must be evaluated in terms of duration, intensity, frequency, triggering and relief factors, pattern of evolution and impact on the patient's quality of life. The diagnosis requires confirmation with different exams. The goal of the clinical treatment is to relieve the symptoms and surgical treatment is indicated for patients who require continued drug use, with intolerance to prolonged clinical treatment and with GERD complications. CONCLUSION: GERD is a major digestive health problem and affect 12% of Brazilian people. The anamnesis is fundamental for the diagnosis of GERD, with special analysis of the typical and atypical symptoms (duration, intensity, frequency, triggering and relief factors, evolution and impact on the life quality). High digestive endoscopy and esophageal pHmetry are the most sensitive diagnosctic methods. The clinical treatment is useful in controlling the symptoms; however, the great problem is keeping the patients asymptomatic over time. Surgical treatment is indicated for patients who required continued drug use, intolerant to the drugs and with complicated forms of GERD.

scholarly journals Reflections on the Constraints and Opportunities in Therapy in Rett Syndrome

2006 ◽  
Vol 6 ◽  
pp. 992-997 ◽  
Author(s):  
Alison M. Kerr
Keyword(s):  
Quality Of Life ◽  
Neural Networks ◽  
Rett Syndrome ◽  
Clear Understanding ◽  
Research Experience ◽  
Hormonal Responses ◽  
Physical Limitations ◽  
The Brain ◽  
Insight Into

More than 20 years of clinical and research experience with affected people in the British Isles has provided insight into particular challenges for therapists, educators, or parents wishing to facilitate learning and to support the development of skills in people with Rett syndrome. This paper considers the challenges in two groups: those due to constraints imposed by the disabilities associated with the disorder and those stemming from the opportunities, often masked by the disorder, allowing the development of skills that depend on less-affected areas of the brain. Because the disorder interferes with the synaptic links between neurones, the functions of the brain that are most dependent on complex neural networks are the most profoundly affected. These functions include speech, memory, learning, generation of ideas, and the planning of fine movements, especially those of the hands. In contrast, spontaneous emotional and hormonal responses appear relatively intact. Whereas failure to appreciate the physical limitations of the disease leads to frustration for therapist and client alike, a clear understanding of the better-preserved areas of competence offers avenues for real progress in learning, the building of satisfying relationships, and achievement of a quality of life.

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