Behavioural Phenotypes

Author(s):  
Anthony Holland

This chapter describes the concept of behavioural phenotypes with examples of genetically-determined neurodevelopmental syndromes which are associated with particular developmental trajectories and specific comorbid risks for challenging behaviour or mental ill-health. Potential neural and other mechanisms that might explain the observed genotype/phenotype associations are explored as are treatment modalities including a focus on novel syndrome specific treatments. The chapter is primarily aimed at trainees, clinicians, and clinical researchers and, for this reason, is about those aspects of the behavioural phenotypes that impinge negatively on a person’s health, well-being, and quality of life.

2021 ◽  
Vol 11 (7) ◽  
pp. 99
Author(s):  
Gian Piero Turchi ◽  
Marta Silvia Dalla Riva ◽  
Luisa Orrù ◽  
Eleonora Pinto

Starting from statistical data derived from the oncological field, some articles have highlighted the importance of communication in the patient–caregiver dyad and have considered the various roles involved in a cancer diagnosis situation. Thus, the question of how to intervene in terms of “quality of life” from the time of diagnosis to the recovery or death of a cancer patient, beyond the sanitary and physical dimensions, has become relevant. Therefore, the present narrative review aims to offer an overview of the state of the art in terms of the psychological treatment modalities of cancer patients, from the diagnosis to the post-surgery period. A total of 67 articles were collected and analyzed, in relation to (1) psychological constructs employed in the oncological field, (2) intervention models and (3) quality of life and well-being measurement and evaluation tools. We described these articles, differentiating between those focusing on the role of (1) the patient, (2) the caregiver, (3) the patient–caregiver dyad and (4) healthcare professional roles. The oncological diagnosis and its repercussions in the lives of the patient and caregiver were explored and critical aspects that emerged from the literature were highlighted. In conclusion, the analysis allowed some considerations about the need to define research protocols and useful management strategies for increasing the overall health of patients with cancer diagnoses and the people who surround them.


Author(s):  
Melisa Anderson ◽  
Dwayne Tucker ◽  
Fabian G. Miller ◽  
Kurt Vaz ◽  
Lennox Anderson-Jackson ◽  
...  

Breast cancer is a disease in which there is increased proliferation of malignant breast cells. This disease is more likely to begin in the ducts or lobules rather than the connective tissue. Globally, breast cancer is the most regularly diagnosed cancer. It is also a leading cause of cancer-related mortality in females. While cancer of the breast affects the physical aspect of patients, it can also negatively impact the quality of life (QoL) of survivors. There is a dearth of information, especially in the last decade, on the negative impact of breast cancer and treatment modalities on the QoL of patients. This review of the literature will examine the QoL and well-being of breast cancer patients to present a current perspective on the topic. Major findings of past and present articles that have contributed to improving the care of breast cancer patients will be summarized and included.


Author(s):  
M. V. Abritsova ◽  
A. M. Bogomazov ◽  
E. B. Golovko ◽  
E. A. Zagriadskii

Hemorrhoids is one of the most common diseases in human. According to the latest data for 2017, the prevalence rates of hemorrhoids per 100 000 population in Russia are 410,3 in adults, 26.7 in children aged 15 to 17 years and 4,0 in children under 14 years old. Quality of life (QoL) is an important non-specific subjective parameter of well-being, representing an integrative characteristic of the physical, psychological, social and emotional status of the patient. Despite the high prevalence of hemorrhoids and the variety of modern methods of surgical treatment, there are very few studies addressing the QoL in this category of patients. There are significant differences between the patient and the Coloproctologist in the perception of HD, which, possibly, can lead to the hypertrophy of indications for surgical treatment. Understanding the effect of HD on social life and the concept of the well-being of a particular patient can help the doctor choose between conservative and surgical approaches in the treatment of hemorrhoids. On the other hand, due to the excessive shyness and mentality in our country, patients with HD tend to adapt to their disease, which leads to later seeking medical help and suboptimal efficacy of conservative therapy and minimally invasive surgical methods.This review presents the first Russian multicenter observational program EQUALISER (impact of different trEatment modalities on QUAlity of life of the patientS with acute and chronic hEmorRhoid disease) aimed at assessing the QoL of patients with HD, as well as the effect of the treatment method and types of surgical treatment on the social adaptation of the population.


2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
M Kroezen ◽  
P Embregts ◽  
E Mulder ◽  
C Van Bussel ◽  
J Van der Nagel ◽  
...  

Abstract Background Challenging Behaviour (CB) is a common problem among people with intellectual disability (ID), leading to a lower quality of life and a negative impact on the emotional well-being of family, staff and fellow clients. Additionally, reduced access to community services and (avoidable) high consumption of specialist care has been reported. This presentation will offer information on the development and content of the Dutch multidisciplinary guideline ‘Challenging behaviour in adults with ID’ that will be published in 2019. Methods The guideline was developed on the basis of the methodologic strategy of the AGREE II instrument. Two systematic reviews were conducted. Additionally, healthcare professionals were surveyed through an online questionnaire, interviews (n = 14) and focus groups (n = 6), and interviews were conducted with adults with ID (n = 20) and their family (n = 16). The draft guideline was reviewed by stakeholders and underwent a practice test. Results The first module of the guideline describes the assessment of (1) the CB itself, (2) potential factors that contribute to the presence or continuation of CB, and (3) the context in which CB occurs. Implementation will lead to a comprehensive, integrated diagnosis and assessment of the CB, the person and context. Module 2 enables health professionals to systematically and transparently select and apply interventions to resolve CB, whilst taking into account multiple factors as well as the specific context in which the CB occurs. Module 3 provides the medical, legal and ethical framework for (off-label) prescription of psychotropics. It explains the process for starting and discontinuing (off-label) psychotropics, the selection of appropriate medication and dosages, and the monitoring and evaluation of effects and side-effects. Conclusions The guideline is based on state of the art scientific and practice-based evidence and will contribute to a more structured approach in the care for people with ID and CB. Key messages Challenging behaviour is a common problem among people with intellectual disability and can have a negative impact on quality of life and the emotional well-being of family, staff and fellow clients. The development of the multidisciplinary guideline ‘Challenging behaviour in adults with ID’ can help to better understand and treat challenging behaviour in people with ID.


2018 ◽  
Vol 32 (1) ◽  
pp. 49-56 ◽  
Author(s):  
Ana Paula S. Pereira ◽  
Victor Marinho ◽  
Daya Gupta ◽  
Francisco Magalhães ◽  
Carla Ayres ◽  
...  

Parkinson disease causes several changes in gait, such as postural stability, which consequently induces fall risk factors and loss of quality of life. Alternative forms of treatment through rhythmic and dance stimuli have been used to minimize the Parkinson disease effects, which have been shown to be effective in improving gait and providing social well-being and quality of life in the patient. Aim: This review aims to demonstrate the efficiency of music and dance for gait improvement and symptom alleviation in Parkinson disease. Methodology: Studies that analyzed sound stimuli and dance in gait improvement in Parkinson disease were searched through PubMed, Scopus, Doaj, MEDLINE, and ScienceDirect databases from November 2017 to April 2018 and repeated in September 2018. Results and Discussion: Forty-five studies met the inclusion criteria to synthesize the findings on dance and music performance as a treatment for classical symptoms of Parkinson disease. Five reviews and 40 experimental papers have shown that rhythmic stimulation and dance provide the motor, cognitive, and quality of life benefits for participants with Parkinson disease. Thus, sound stimuli and dance offer satisfactory effects for gait, improving cognitive abilities such as motor control and adjustment and spatial memory. In addition, these new treatment modalities stimulate the elderly population to practice physical exercise, generating well-being and helping self-esteem. Conclusion: Dance and music therapy interventions are noninvasive, simple treatment options, which promote gait and cognition.


2019 ◽  
Vol 70 (1) ◽  
pp. 33-35 ◽  
Author(s):  
Laura Mazilu ◽  
Dana Lucia Stanculeanu ◽  
Andreea Daniela Gheorghe ◽  
Adrian Paul Suceveanu ◽  
Irinel Raluca Parepa ◽  
...  

NSCLC accounts around 80% of all lung cancers. NSCLC patients have usually a lousy quality of life (QoL), influenced by the malignant disease itself and by cancer treatment modalities. We conducted an observational study in Oncology Department, Clinical Emergency Hospital, Constanta, on a sample of 50 patients diagnosed with NSCLC one year. Our study data showed that younger patients have a better QoL regarding social/family well-being, but without other significant differences. Also, patients living in the urban area have a better QoL regarding social/family well-being. Patients having better performance status obtain higher scores from all subscales of the FACT- G questionnaire and, also a higher FACT-G total scale, these results are showing that better the performance status and general status of the patient, better the QoL. We detected a significant relationship between QoL and disease stage or presence of metastasis. We found no clinical significance between QoL scores with respect with chemotherapy protocol or the number of cycles of chemotherapy. We aimed to show that factors influencing the QoL of NSCLC patients are stage of the disease and performance status of the patients. To diminish the negative impact, one important step in ameliorating the QoL of NSCLC patients is to detect all factors influencing it and offer psychological spiritual and social support.


Author(s):  
Radheyshyam Sharma ◽  
Anamika Soni

Cancer is second to coronary artery disease as being the commonest cause of death in the western world. As many as 2,500 persons die every day due to tobacco-related diseases in India One woman dies of cervical cancer every 8 minutes in India. In Modern medicine, the available treatment modalities viz chemotherapy and radiotherapy cause decrease in immunity, decreased Quality of life, poor tolerance to surgery and altered efficacy of Chemotherapy and Radiotherapy. Ancient Ayurveda classics have described about tumours as arbuda.  Ayurveda can be helpful in the management of cancer in many ways, as prophylactic, palliative, curative & supportive and no doubt it helps to improve quality of life (QOL) as adjuvant or co therapy along with chemotherapy or radio therapy & Post surgery care, to minimize the side effects of these therapies. So, the current pilot study was done to evaluate the effect of an hypothetical compound (AC Compound) in the patients of Cancer. A significant improvement in some of subjective parameters like general well being, pain, indigestion, constipation and headache was seen in patients as a result of therapy the results encourage more exploration and clinical trials in this field. Keywords:  Immunity, Chemotherapy, Radiotherapy, Arbuda, AC compound


2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 111s-111s
Author(s):  
N. Elkateb ◽  
W. Monir ◽  
M. Abdelhady

Background: The concept of quality of life (QOL) refers to the ability to enjoy normal life activities; it is a complex combination of satisfactory functioning in essential four core domains — physical, psychological/emotional, social and quality of life is an important aspect of care in the clinical setting; nurses can improve patients´ quality of life by ensuring they are competent in daily practice, and by giving patients a high quality holistic care based on safe, effective intervention and providing required information. Aim: To evaluate the quality of life of cancer patients in relation to different treatment modalities and evaluate the impact of the information given on the quality of life. Methods: A convenient sample of adult cancer patients recruited from a university hospital, Cairo, Egypt. Data were collected through self-administered questionnaire or patient structured interview. Tools used: EORTC QLQ-C30 (Version 3) and QLQ-INFO25. Data analysis includes descriptive statistics and exploration of relationships between key variables; physical, emotional, social well-being, type of treatment, information given and quality of life. Results: Preliminary results revealed significant correlation between fatigue, emotional disturbance and quality of life. Lack of information is also correlated with low quality of life. Patients expressed their needs for more clarification about treatment, coping with disease and future consideration. Conclusion: Quality of life should be assessed frequently by nurses throughout treatment phases to identify patients at risk. Nurses also should emphasize on proper patients teaching and counseling to promote physical psychosocial balance and improve quality of life.


2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 116s-116s
Author(s):  
S. Opoku

Background: Quality of life is an important clinical outcome in assessing health care. It is a concept that includes many subjective elements: physical, emotional and social function, attitudes to illness, patient's daily lives-including family interactions. Quality of life is increasingly used as an outcome measure in oncology research studies appearing in a variety of forms in several literatures. Aim: The study was aimed at assessing the quality of life of breast cancer patient undergoing treatment at the Radiotherapy Center, Accra, Ghana. Methods: This cross-sectional descriptive study involved 30 patients over a 3-month period. Functional Assessment of Cancer Therapy (FACT-B) Specific Scale for Breast Cancer Survey Instrument was used to collect the data which was analyzed with SPSS. Results: The peak age range of the patients was between (56-65) years. Out of these, 60% (n=18/30) received triple treatment modalities, namely, surgery, chemotherapy and radiotherapy. Surgery and chemotherapy alone accounted for 16.7% (n=5/30). Further 10% (3/30) had surgery with adjuvant radiotherapy. Three patients 10% had only surgery and one patient (3.3%) received both chemotherapy and radiotherapy. The scores for the quality of life domains were general emotional well-being (18.8+8.4), general physical well-being (16.5+6.1), general social well-being (14.3+7.0) and general functional well-being (10.9+5.7). The quality of life of three patients (10%) was found to be poor, while 70% (n=21/30) had stable quality of life and 20% (n=6/30) with good quality of life. Conclusion: Considering the quality of life domains or subscale scores and the overall quality of life scores, it is concluded that no significant difference exists ( P > 0.05) in the quality of life status of the patients irrespective the treatment modality received.


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