Search results for: genetic counseling

Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

Abstract:

Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

Procedia PDF Downloads 642

Authors: Agi Sunday

Abstract:

A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

Procedia PDF Downloads 389

Authors: Omer Ozer, Murat Yikilmaz, Ahmet Altinok, Ferhat Bayolu

Abstract:

There is an increasing number of online counseling services, studies exploring clients’ and counselors’ attitudes toward online counseling services are needed to provide effective and efficient mental health counseling services. The purpose of this study is to investigate counselors’ attitudes toward online counseling in relation to counselors’ genders, their daily usage of computer, their total usage of computer, and their self-efficacy in computer usage. In this study, Personal Information Form, specific items from the Online Counseling Attitudes Scale, and the Face-to-Face Counseling Attitudes Scale were given to 193 counselors to measure attitudes toward online counseling. Data were analyzed by using independent samples t-test and one-way ANOVA. There were no statistically significant differences counselors’ attitudes toward online counseling and counselors’ gender, their daily usage of computer, their total usage of computer, and their self-efficacy in computer usage. The implications of these findings have been discussed in the literature review to provide some suggestions to researchers in the counseling profession.

Keywords: online counseling, counselor, attitude, counseling service

Procedia PDF Downloads 356

Authors: Buddhiprabha D. D. Pathirana

Abstract:

Despite a rapid increase in the number of school counselors in the recent past; procuring the service of school counselors is a luxury that many Sri Lankan schools cannot afford. In addition, school counseling in Sri Lanka also faces new challenges in implementation due to the fact that a generally agreed consensus on training, ethical standards, role identity, counseling model, and structures for school counselors has not been reached. Therefore, this paper has several objectives. First, it reviews a brief history of school counseling in Sri Lanka and describes its current status. Second, it describes current trends/ problems specific to Sri Lankan school counseling milieu which have limited the progress of school counseling as a practice. Third, it discusses societal and cultural issues that are important to consider when implementing school counseling as a practices in Sri Lanka and provides recommendations to improve it.

Keywords: school counseling, Sri Lanka, current situation, recommendations

Procedia PDF Downloads 536

Authors: Anthonia Emmanuel Inaja

Abstract:

The role of the counseling services by Special Educators, Guidance Counsellors and psychologists alike to Families and Parents of children with special needs cannot be over-emphasized. This paper examined the vital role of counseling services and its impact on the emotional and physical readiness of parents to initiate and support the education and rehabilitation needs of their children. The paper considered the importance of counseling, when counseling services are best required preparing the mindset of parents and family members as well as the immediate community of the social needs child.

Keywords: counseling, families, special, needs, children, problems, prospect

Procedia PDF Downloads 512

Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

Abstract:

The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

Procedia PDF Downloads 240

Authors: Wafa Al Jabri

Abstract:

Background: In Middle Eastern Islamic Countries (MEICs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern, especially with the increase in affected populations along with the associated psychological, social, and financial cost of management. Despite the availability of premarital screening services (PSS) that aim to identify the asymptomatic carriers of GBDs and provide genetic counseling to couples in order toreduce the prevalence of these diseases; yet, the success rate of PSS is very low due to religious and socio-cultural concerns. Purpose: This paper aims to highlight the factors that affect the success of PSS in MEICs. Methods: A literature review of articles located in CINAHL, PubMed, SCOPUS, and MedLinewas carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders.” Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MEICs countries and published in the last five years were included. Studies that were not published in English were excluded. Results: Fourteen articles were included in the review. The results showed that PSS in most of the MEICs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meetitsultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, religious beliefs, availability of prenatal diagnosis and therapeutic abortion, emotional factors, and availability of genetic counseling services. However, poor public awareness, late timing of the screening, and unavailability of adequate counseling services were the most common barriers identified. Conclusion: Overcoming the identified barriers by providing effective health education programs, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling would be crucial steps to provide a framework for an effective PSS in MEICs.

Keywords: premarital screening, success, effectiveness, and genetic blood disorders

Procedia PDF Downloads 98

Authors: Ramona Moldovan, Doina Cosman, Sebastian Moldovan, Radu Popp, Victor Pop

Abstract:

MENTALICA is a project aimed at developing and evaluating a platform that can assist individuals diagnosed with severe mental disorders and their families in managing the consequences associated with severe mental disorders, recurrence risks, prevention strategies and treatment options. MENTALICA is a platform based on guidance issued by some of the most prominent scientific organizations in the world. In order to personalize the information provided, the program explores details about the personal and family history of mental disorders. MENTALICA summarizes the answers and gives respondents a personal assessment. This includes personalized information and support about schizophrenia, bipolar disorder and schizoaffective disorder. MENTALICA includes several modules: Family history tools, Risk assessment tools and Risk factor sheets, Practical guides for patients, Practical guides for families, Guidelines for clinicians. Currently, there are no available guidelines for genetic counselling for mental disorders. Respondents can print out their reports and discuss them with family members or their doctors. We will briefly present the current status of MENTALICA and its implications for patients, professionals and the community.

Keywords: genetic counseling, mental disorders, platform

Procedia PDF Downloads 486

Authors: Park Jin Hee

Abstract:

The purpose of this research is to analyze the meaning and essence of stress experiences school counselors experience while providing counseling. For this research, interviews were conducted with ten school counselors and analyze the interview findings by using phenomenological method of Colaizzi. As for the conclusion in this research, several of types of emotions and mindset of school counselors were examined, and the positive and negative effects of such emotions and mindset on counseling process were shown.

Keywords: counseling stress experience, meaning, school counselors, phenomenological study

Procedia PDF Downloads 316

Authors: Wafa Al Jabri

Abstract:

Background: In Middle Eastern Countries (MECs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern that place a huge burden to individuals, families, communities, and health care systems. The high rates of consanguineous marriages, along with the unacceptable termination of at-risk pregnancy in MECs, reduce the possible solutions to control the high prevalence of GBDs. Since the early 1970s, most of MECs have started introducing premarital screening services (PSS) as a preventive measure to identify the asymptomatic carriers of GBDs and to provide genetic counseling to help couples plan for healthy families; yet, the success rate of PSS is very low. Purpose: This paper aims to highlight the factors that affect the success of PSS in MECs. Methods: An integrative review of articles located in CINAHL, PubMed, SCOPUS, and MedLine was carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders”. Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MECs and published after 2010 were included. Studies that were not published in English were excluded. Results: Eighteen articles were included in the review. The results showed that PSS in most of the MECs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meet its ultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, lack of prenatal diagnosis services and therapeutic abortion, emotional factors, religious beliefs, and lack of genetic counseling services. However, poor public awareness, late timing of the screening, religious misbeliefs, and the lack of adequate counseling services were the most common barriers identified. Conclusion and Implications: The review help in providing a framework for an effective preventive measure to reduce the prevalence of GBDs in MECS. This framework focuses primarily in overcoming the identified barriers by providing effective health education programs in collaboration with religious leaders, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling to consider people’s values, beliefs, and preferences.

Keywords: premarital screening, middle east, genetic blood disorders, factors

Procedia PDF Downloads 81

Authors: Cailyn Green

Abstract:

Substance use counselors have a variety of fast-paced tasks and responsibilities. Professional resources are designed to support professionals in making their job duties easier and less stressful. The purpose of this research was to identify what types of resources would support addiction counselors in performing their job duties. Counselors often must jump in and facilitate a group counseling session with little to no time for prep. This causes stress and creates pressure to come up with a clinical group activity in little time. The researcher utilized qualitative interviews focused on identifying what types of resources would support addiction counselors in doing their jobs easier and effectively. The researcher visited 23 different addiction counseling facilities seeking participants for the interviews. Altogether 15 interviews were collected across six different substance-use counseling facilities. The interviews guided the researcher toward creating an open education resource (OER) of group activities for addiction counselors to utilize.

Keywords: addiction, counseling, resources, OER, treatment

Procedia PDF Downloads 74

Authors: Mohammad Jamalallail

Abstract:

Self-esteem implies a person’s overall self-worth, self-respect, and self-value. It helps a person to maintain good mental health, personality, and achievement. Gifted students face some emotional problems, sometimes, which cause decreases in their self-esteem. Such emotional problems include loneliness, anxiety, and depression as examples. For this reason, designing a counseling program is necessary for gifted students who need a high level of self-esteem. The available counseling programs focused on developmental aspect only to the best of the writer’s knowledge. While the proposed program focuses on both clinical and developmental counseling by applying psychoanalytic play therapy. The proposed program consists of; Theoretical background such as; Behavior, and RET. It also consists of counseling procedures and therapeutic interventions.

Keywords: self-esteem, gifted, program, design

Procedia PDF Downloads 427

Authors: Matthew T. Wilson

Abstract:

This paper covers a selection of research utilizing grammar-based genetic programming, and illustrates how context-free grammar can be used to constrain genetic programming. It focuses heavily on grammatical evolution, one of the most popular variants of grammar-based genetic programming, and the way its operators and terminals are specialized and modified from those in genetic programming. A variety of implementations of grammatical evolution for general use are covered, as well as research each focused on using grammatical evolution or grammar-based genetic programming on a single application, or to solve a specific problem, including some of the classically considered genetic programming problems, such as the Santa Fe Trail.

Keywords: context-free grammar, genetic algorithms, genetic programming, grammatical evolution

Procedia PDF Downloads 186

Authors: Sajadian Akram, Tavasoli F.

Abstract:

Breast cancer is the second most common cancer in the world and certainly the most frequent cancer mostly among women. This study was aimed to compare the effectiveness of individual counseling and group narrative therapy on female patients' life expectancy afflicted by breast cancer. The present study is a pre-test-post-test clinical trial. Fifty-five patients with breast cancer were randomly selected in the follow-up period and after their active medical treatment completion. Then, they were randomly divided into two groups: individual counseling and group counseling. Herth hope index (HHI) was used to measure the patients' hope level. Data were analyzed using t-test and SPSS software. hope rate was statistically significant in both groups receiving individual and group narrative therapy in the post-test compared to the pre-test (P <00000). Moreover, the comparative evaluation of hope in both groups (individual & group counseling) in the post-test showed that group narrative counseling is more effective than individual narrative counseling (P <00000). Conclusion: Narrative therapy promotes hope in breast cancer patients effectively. Due to the nature of breast cancer and its psychological effects in the post-treatment period, providing narrative group therapy can improve life quality. Patients' life quality changes in tandem with changes in hope.

Keywords: hope, narrative therapy, counseling, breast cancer

Procedia PDF Downloads 121

Authors: Riin Seema

Abstract:

Guidance and counseling as a whole-school responsibility is a global trend. Counseling is a specific competence, that consist of cognitive, emotional, attitudinal, and behavioral components. To authors best knowledge, there are no self-assessment scales for teachers in the whole world to measure teachers’ counseling competency. In 2016 an Estonian scale on teachers counseling competence was developed during an Interdisciplinary Project at Tallinn University. The team consisted of 10 interdisciplinary students (psychology, nursery school, special and adult education) and their supervisor. In 2017 another international Interdisciplinary Project was carried out for adapting the scale in English for international students. Firstly, the Estonian scale was translated by 2 professional translators, and then a group of international Erasmus students (again from psychology, nursery school, special and adult education) selected the most suitable translation for the scale. The developed ‘Teacher’s Counselling Competence Self-Efficacy Scale’ measures teacher’s self-efficacy beliefs in their own competence to perform different counseling tasks (creating a counseling relationship, using different reflection techniques, etc.). The scale consists of 47 questions in a 5-point numeric scale. The scale is created based on counseling theory and scale development and validation theory. The scale has been used as a teaching and learning material for counseling courses by 174 Estonian and 10 international student teachers. After filling out the scale, the students also reflected on the scale and their own counseling competencies. The study showed that the scale is unidimensional and has an excellent Cronbach alpha coefficient. Student’s qualitative feedback on the scale has been very positive, as the scale supports their self-reflection. In conclusion, the developed ‘Teacher’s Counselling Competence Self-Efficacy Scale’ is a useful tool for supporting student teachers’ learning.

Keywords: competency, counseling, self-efficacy, teacher students

Procedia PDF Downloads 145

Authors: Paula Lazarim

Abstract:

As global mobility thrives, researchers emphasize the urgency of global literacy through training qualified counselors to serve internationally in a culturally competent manner. However, the focus thus far has been on how counselors’ preparation to approach international populations fuses with study abroad experiential learning short-term immersions. Looking for better solutions for cultural competency and skills learning related to international counseling, the author of this manuscript examines international counseling's current status, learning scope and goals, and educational opportunities. A guiding framework grounded on relational pedagogy (Reeves & Le Mare, 2017), relational cultural theory (Jordan, 2017), and intercultural education (Nastasi et al., 2020) is applied with four long-term educational modality projects designed to benefit cultural competence, attitude, relational skills development, and learning an intercultural counseling approach. Suggestions that encourage innovative instruction in counselor education and counseling programs at master and doctoral levels, stimulate self-learning, and educate in intercultural relational competence are linked to strategies for engaging in international counseling based on findings of a literature review and training-projects implementation. Ultimately, the author highlights theoretical and practical implications of suitable training to improve counselors' performance and discusses long-term teaching-learning opportunities that positively impact the international counseling community by sending out internationally culturally competent counselors.

Keywords: international counseling, counselor education, counseling, relational pedagogy, intercultural education, counselors’ training

Procedia PDF Downloads 199

Authors: Turki Alotaibi

Abstract:

Student counseling programs can provide many benefits to students in schools all around the world. In theory, the government of the Kingdom of Saudi Arabia (Saudi Arabia) has committed itself to school counseling programs in educational institutions throughout the country. Student counselors face a number of burdens and obstacles that impact student counseling programs. It is also widely known that Saudi Arabia has extremely high prevalence rates for overweight and obesity, anxiety and depression, and diabetes in children. It has also been demonstrated that teachers and staff are inadequately prepared when dealing with health issues relating to diabetes in schools in Saudi Arabia. This study will clearly demonstrate how student counselors in Saudi Arabia could become 'New Educators' in Saudi schools in relation to these health issues. This would allow them to leverage their position as student counselor to improve the management of these health issues in Saudi schools, to improve the quality of care provided to school children, and to overcome burdens and obstacles that are currently negatively affecting student counseling in Saudi schools.

Keywords: anxiety and depression, diabetes, overweight and obesity, policy recommendations, student counseling, The Kingdom of Saudi Arabia

Procedia PDF Downloads 356

Authors: Umut Arslan, John Sommers Flanagan

Abstract:

The purpose of this study was to investigate qualifications of ethics training in counselor education programs in Turkey. The survey data were collected from 251 Turkish counseling students to examine differences in ethical judgments between freshmen and seniors. Chi-square analysis was used to analyze the data from an ethical practice and belief survey. This survey was used to assess counselor candidates’ ethical judgments regarding Turkish counseling ethical codes and sources of ethics information. Statistically significant differences were found between university seniors and freshmen on items that are related to confidentiality, dual relationships, and professional relationships. Furthermore, patterns based on demographic information showed significant differences as a result of gender, economic status, and parents’ educational level. Participants gave the highest rating of information sources to Turkish counseling ethical codes.

Keywords: ethics, training, Turkey, counselor, education

Procedia PDF Downloads 372

Authors: Weera Chotithammaporn, Bannasorn Santhan

Abstract:

The purpose of this study was to investigate the students’ satisfaction towards the counseling services of the Faculty of Industrial Technology, Suan Sunandha Rajabhat University. The sample group consisted of 311 students coming for counseling services during September to October 2012 BE to complete the questionnaires developed by the researcher. The data were analyzed to find percentage, arithmetic mean, and SD, from which it can be concluded that: 1) Personal information including gender, GPA, department, year of the study, and hometown revealed that most of the students in the Faculty of Industrial Technology, Suan Sunandha Rajabhat University were female with the GPA between 2.01 and 2.50 and studied in the Department of Interior and Exhibition Design and Graphic and Multimedia Design. Most of them were in the first year of the study and came from the southern part of Thailand. 2) The level of students’ satisfaction towards the counseling services of the Faculty of Industrial Technology, Suan Sunandha Rajabhat University was in overall at high level with the highest aspect on IT services followed by follow-up and evaluation service, counseling service, individual personal data collecting service, and personal placement service respectively.

Keywords: satisfaction, students, counseling service, Faculty of Industrial Technology

Procedia PDF Downloads 279

Authors: Olusola Joseph Adesina, Adebayo Adeyinka Salako

Abstract:

The study adopted a descriptive research design. Two hundred (200) in-school adolescents were purposely selected in Afijio Local Government Area of Oyo State. Two hypotheses were also raised to pilot the study. The researchers developed an instrument which was validated by psychological experts, the instrument tagged counseling psychology and sexual risk behavior questionnaire (CPSRBQ)(r = 0.78). The results were analysed using t-test at 0.05 level of significance. The result showed that there is a significant relationship between counseling psychology and sexual risk behavior of in-school adolescents. It was also noticed that there is a significant difference in the sexual risk behavior of male and female adolescents. Based on the findings, it was recommended that more counselors are still needed in Nigeria schools. There is need for restructuring Nigeria Curriculum most especially on sex education and related diseases. Lastly, adolescents should be more exposed to seminars on HIV/AIDS, sex education enlightenment programmes and marital counseling.

Keywords: counseling psychology, sexual behavior, risk and adolescent, cognitive sciences

Procedia PDF Downloads 507

Authors: Alexander Dolin

Abstract:

In the practice of Faith-based counseling, the clinician frequently faces multifaceted issues that come together when theological directives meet professional ethics to create a special set of dilemmas. The study narrates one working through the professional dilemmas of these Faith-based counselors, thereby looking into the tensions between the necessity of fidelity to faith and the requirements to follow the American Counseling Association Code of Ethics. Through a qualitative analysis of interviews with practitioners from various denominational backgrounds, the study has identified common ethical challenges and best practices that enable the integration of faith and ethics in practice. The findings provide insight into how faith-based counselors would reconcile a situation of conflict between religious belief and professional obligations but are striving to provide care that honors both their spiritual convictions and ethical responsibilities. This will add to existing discussions related to ethical decision-making in faith-based counseling by providing practical ways of dealing with these dilemmas in support of the counselor's professional integrity and spiritual mission.

Keywords: ethics, faith, common challenges, practical tools, counseling

Procedia PDF Downloads 27

Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Douad, Leila Keskes, Tarek Rebai

Abstract:

Recurrent pregnancy loss (RPL), classically defined as the occurrence of two or more failed pregnancies, is a serious reproductive problem, in which, chromosomal rearrangements in either carrier are a major cause; mainly the chromosome aneuploidy. This study was conducted to determine the frequency and contribution of X-chromosome aneuploidy in recurrent pregnancy loss. A retrospective study was carried out among 100 couples with more than 2 miscarriages, referred to our genetic counseling. In all the cases the detailed reproductive histories were taken. Chromosomal analysis was performed using RHG banding in peripheral blood. Of a total of 100 couples; 3 patients with a detected X-chromosome aneuploidy were identified with an overall frequency of 3%. Chromosome abnormalities are as below: a Turner syndrome with 45, X/46, XX mosaicism, a 47, XXX, and a Klinefelter syndrome with 46, XY/47, XXY. These data show a high incidence of X-chromosome aneuploidy; mainly with mosaicism; in RPL. Thus, couples with such chromosomal abnormality should be referred to a clinical geneticist with whom the option of pre-implantation genetic diagnosis in subsequent pregnancy should be discussed.

Keywords: aneuploidy, genetic testing, recurrent pregnancy loss, X-chromosome

Procedia PDF Downloads 359

Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

Abstract:

Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

Procedia PDF Downloads 315

Authors: Maedeh Gharazi

Abstract:

Distinguishing proof of entrepreneurial open doors in the field of nutrition counseling is a focal issue in utilizing nutrition experts and addressing the needs of patients with chronic diseases better. To this end, this review has been directed keeping in mind the end goal to investigate the supply and interest patterns of diabetes sustenance advising as a fundamental stride toward recognizing the entrepreneurial open doors for nutrition advisors in Tehran, Iran. To execute this expressive overview concentrate on, a survey in light of Likert scale was sent via email to 100 dynamic experts in the field of nutrition counseling services in Tehran, of whom 52 reacted to its inquiries. At that point, the mean estimations of members' reactions were ascertained utilizing SPSS programming and contrasted to each other. The outcome acquired in view of members' reactions uncovered that the requirement for "healthful guiding as a treatment group" was basically not met in diverse age, training and salary gatherings of diabetic patients. Along these lines, nutrition counseling as a treatment group can be considered as a suitable field for entrepreneurial exercises.

Keywords: nutrition counseling, chronic diseases, diabetes, likert scale, SPSS programming

Procedia PDF Downloads 342

Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Chi V. Phan, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le

Abstract:

Wilson’s disease is an autosomal recessive disorder of copper metabolism, which is caused by mutation in copper- transporting P-type ATPase (ATP7B). The mechanism of this disease is a failure of hepatic excretion of copper to the bile, and it leads to copper deposits in the liver and other organs. Most clinical symptoms of Wilson’s disease can present as liver disease and/or neurologic disease. Objective: The goal of the study is prenatal diagnosis for pregnant women at high risk of Wilson’s disease in Northern Vietnam. Material and method: Three probands with clinically diagnosed liver disease were detected in the mutations of 21 exons and exon-intron boundaries of the ATP7B gene by direct Sanger-sequencing. Prenatal diagnoses were performed by amniotic fluid sampling from pregnant women in the 16th-18th weeks of pregnancy after the genotypes of parents with the probands were identified. Result: A total of three different mutations of the probands, including of S105*, P1052L, P1273G, were detected. Among three fetuses which underwent prenatal genetic testing, one fetus was homozygote; two fetuses were carriers. Conclusion: Genetic testing provided a useful method for prenatal diagnosis, and is a basis for genetic counseling.

Keywords: ATP7B gene, genetic testing, prenatal diagnosis, pedigree, Wilson disease

Procedia PDF Downloads 454

Authors: Amy Gooden, Meshandren Naidoo

Abstract:

Genetic research is not confined to a particular jurisdiction. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

Procedia PDF Downloads 161

Authors: Sikander Singh Cheema, Jasmeen Kaur

Abstract:

In this paper, the concept of data mining is summarized and its one of the important process i.e KDD is summarized. The data mining based on Genetic Algorithm is researched in and ways to achieve the data mining Genetic Algorithm are surveyed. This paper also conducts a formal review on the area of data mining tasks and genetic algorithm in various fields.

Keywords: data mining, KDD, genetic algorithm, descriptive mining, predictive mining

Procedia PDF Downloads 590

Authors: Lewis Mehl-Madrona, Barbara Mainguy

Abstract:

We describe the type of counseling done by traditional cultural healers in North America. We follow an autoethnographic course development through the first author’s integration of mainstream training and Native-American heritage and study with traditional medicine people. We assemble traditional healing elders from North America and discuss with them their practices and their philosophies of healing. We draw parallels for their approaches in some European-based philosophies and religion, including the work of Heidegger, Levin, Fox, Kierkegaard, and others. An example of the treatment process with a depressed client is provided and similarities and differences with conventional psychotherapies are described.

Keywords: indigenous approaches to counseling, indigenous bodywork, indigenous healing, North American indigenous people

Procedia PDF Downloads 272

Authors: Fariborz Ahmadi, Reza Tati

Abstract:

Genetic algorithm is a soft computing method that works on set of solutions. These solutions are called chromosome and the best one is the absolute solution of the problem. The main problem of this algorithm is that after passing through some generations, it may be produced some chromosomes that had been produced in some generations ago that causes reducing the convergence speed. From another respective, most of the genetic algorithms are implemented in software and less works have been done on hardware implementation. Our work implements genetic algorithm in hardware that doesn’t produce chromosome that have been produced in previous generations. In this work, most of genetic operators are implemented without producing iterative chromosomes and genetic diversity is preserved. Genetic diversity causes that not only do not this algorithm converge to local optimum but also reaching to global optimum. Without any doubts, proposed approach is so faster than software implementations. Evaluation results also show the proposed approach is faster than hardware ones.

Keywords: hardware, genetic algorithm, computer science, engineering

Procedia PDF Downloads 505

Authors: Ismail Seçer, Kerime Meryem Dereli̇oğlu

Abstract:

This study is conducted to determine the effects of group counseling program on secondary school 9th grade students’ assertiveness skills. The study group was formed of 100 students who have received education in Erzurum Kültür Elementary School in 2015-2016 education years. RAE-Rathus Assertiveness Schedule developed by Voltan Acar was applied on this group to gather data. 40 students who got lower grades from the inventory were divided randomly into experimental and control groups. Each group is formed of 20 students. Group counseling program was carried out on the experimental group to improve the students’ assertiveness skills for 8 weeks. Single-way and two-way analysis of covariance (ANCOVA) were used in the analysis of the data. The data was analyzed by using the SPSS 19.00. The results of the study show that assertiveness skills of the students who participate in the group counseling program increased meaningfully compared to the control group and pre-experiment. Besides, it was determined that the change observed in the experimental group occurred separately from the age and socio-economic level variables, and it was determined with the monitoring test applied after four months that this affect was continued. According to this result, it can be said that the applied group counseling program is an effective means to improve the assertiveness skills of secondary school students.

Keywords: high school, assertiveness, assertiveness inventory, assertiveness education

Procedia PDF Downloads 246