在Schaaf-Yang综合征中,基于护理人员对疾病负担的看法
Laura Dötsch1, Lisa Matesevac2, Theresa V Strong2
1Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Molecular genetics & genomic medicine
|August 3, 2023
概括
沙夫-综合征 (SYS) 显著影响家庭,尽管有治疗方法,但护理人员发现护理具有挑战性. 优先考虑适应年龄的疗法对于改善患者和家庭福祉至关重要.
科学领域:
- 遗传学和罕见疾病.
- 神经发育障碍 神经发育障碍
背景情况:
- 沙夫-综合征 (SYS) 是一种罕见的神经发育障碍.
- 它是由15q染色体上的MAGEL2基因变异引起的.
- 关键特征包括低血压,智力障碍,新生儿契约和自闭症谱系障碍.
研究的目的:
- 评估沙夫-综合征 (SYS) 对患者及其家属的疾病负担.
- 了解护理人员对与SYS相关的挑战的看法.
主要方法:
- 使用了一项在线调查,即SYS患者声音调查.
- 该调查收集了81名SYS患者的主要护理人员的观点.
主要成果:
- 护理人员认为,与肌肉和发育问题相关的早期儿童挑战.
- 行为问题在晚年变得更有影响力.
- 护理人员对未来的症状发作表示担忧,特别是在年幼的儿童中.
- 现有的治疗方法无法完全减轻整体疾病负担.
- 据报道,照顾SYS患者非常具有挑战性,影响日常生活和未来计划.
结论:
- 治疗需要适应年龄,并与护理人员的优先事项保持一致.
- 改进的疗法可以改善患者的病情.
- 促进患者和家属的社会参与是关键目标.
相关概念视频
Assessment of the Gastrointestinal System II: Health Perception Pattern
141
Assessing the gastrointestinal (GI) system is a complex process that begins with collecting subjective data. This data, collected through patient interviews, provides crucial insights into the patient's health history, perception patterns, and lifestyle habits, all contributing significantly to GI health.
Health Perception Patterns
Health perception patterns offer valuable insights into a patient's lifestyle habits and how they may impact their GI health. These patterns include:
Health Perception Patterns
Health perception patterns offer valuable insights into a patient's lifestyle habits and how they may impact their GI health. These patterns include:
141
Negative and Cognitive Symptoms of Schizophrenia
96
Negative symptoms of schizophrenia indicate a reduction or absence of typical behaviors and emotional responses found in healthy individuals, while positive symptoms reflect an excess or distortion of normal functioning.
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
96
Factors Affecting Illness
4.3K
When a person's physical, emotional, intellectual, social development or spiritual functioning is compromised, this deviation from a healthy normal state is called illness. Illness creates stress that in turn harms individuals. Irritation, anger, denial, hopelessness, and fear are behavioral and emotional changes an individual experiences in the phases of illness. A variety of factors influence a person's health and well-being.
For instance, risk factors are connected to illness,...
For instance, risk factors are connected to illness,...
4.3K
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
17
Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
17
Psychological and Sociocultural Causes of Schizophrenia
139
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
139
Autism Spectrum Disorder
161
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
161


