Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study

2001 ◽  
Vol 10 (1) ◽  
pp. 53-72 ◽  
Author(s):  
Veronica Collins ◽  
Jane Halliday ◽  
Stephen Kahler ◽  
Robert Williamson
Keyword(s):  
Genetic Counseling ◽  
Exploratory Study ◽  
Genetic Disorder ◽  
Parents Experiences

Prenatal Genetic Diagnosis for Pediatricians

PEDIATRICS ◽  
1994 ◽  
Vol 93 (6) ◽  
pp. 1010-1015
Author(s):  
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Diagnostic Tests ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Decision Making Process ◽  
Know How ◽  
Prenatal Genetic Diagnosis ◽  
The Family

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.

Genetic counseling students’ experiences with mental illness during training: An exploratory study

2018 ◽  
Vol 67 (4) ◽  
pp. 348-356
Author(s):  
Anna Cantor ◽  
Catriona Hippman ◽  
Laura Hercher ◽  
Jehannine C. Austin
Keyword(s):  
Mental Illness ◽  
Genetic Counseling ◽  
Exploratory Study ◽  
Counseling Students ◽  
Genetic Counseling Students

Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals

2014 ◽  
Vol 24 (4) ◽  
pp. 597-607 ◽  
Author(s):  
Emma Kowal ◽  
Lyndon Gallacher ◽  
Ivan Macciocca ◽  
Margaret Sahhar
Keyword(s):  
Genetic Counseling ◽  
Health Professionals ◽  
Exploratory Study ◽  
Indigenous Australians

Dental implications of tooth-nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management.

2005 ◽  
Vol 28 (2) ◽  
pp. 107-112 ◽  
Author(s):  
G. Wicomb ◽  
L. Stephen ◽  
P. Beighton
Keyword(s):  
Genetic Counseling ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Male Infant ◽  
Pedigree Data ◽  
Affected Child ◽  
Dental Management ◽  
Nail Dysplasia

Tooth-Nail dysplasia is a rare genetic disorder, which is classified as an ectodermal dysplasia. Diagnostic differentiation from other conditions in this category is necessary for effective dental management and genetic counseling. The oro-dental and clinical manifestations of Tooth-Nail dysplasia in an affected male infant and his father are documented. Other family members have the condition and pedigree data are in keeping with autosomal dominant inheritance.A comprehensive approach to the dental management of an affected child is proposed.

An Exploratory Study of Employers’ Attitudes Towards a Clinical Doctorate in Genetic Counseling

2015 ◽  
Vol 25 (1) ◽  
pp. 179-188 ◽  
Author(s):  
Kathleen Valverde ◽  
Rebecca Mueller ◽  
Breah Paciotti ◽  
Laura Conway
Keyword(s):  
Genetic Counseling ◽  
Exploratory Study ◽  
Clinical Doctorate

Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study

1999 ◽  
Vol 8 (4) ◽  
pp. 191-216 ◽  
Author(s):  
Patricia McCarthy Veach ◽  
Sarah E. Truesdell ◽  
Bonnie S. LeRoy ◽  
Dianne M. Bartels
Keyword(s):  
Genetic Counseling ◽  
Exploratory Study ◽  
Client Perceptions ◽  
The Impact

scholarly journals Síndrome de down: facilidades, dificuldades e apoio encontrado pelos pais / Down syndrome: facilities, dificulties and support found by parents

2017 ◽  
Vol 7 (2) ◽  
pp. 23-29
Author(s):  
Mayra Cristina Martins dos Santos ◽  
Ana Camila Batista ◽  
Ivandira Anselmo Ribeiro Simões
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Exploratory Study ◽  
Social Representations ◽  
Genetic Disorder ◽  
Structured Interview ◽  
Chromosome 21 ◽  
Professional Characteristics ◽  
Qualitative Descriptive ◽  
Answering Questions

Introdução: A síndrome de Down (SD) é um distúrbio genético, devido à presença adicional de um cromossomo 21 nas células de seu portador e que causa um retardo mental de vários graus. Objetivos: Identificar quais as dificuldades e facilidades que os pais tiveram na criação de seus filhos com a SD e conhecer que tipos de apoio os pais dos portadores da SD receberam. Métodos: Pesquisa do tipo qualitativa, descritiva e exploratória. Para a análise e interpretação dos dados utilizou-se a técnica do Discurso do Sujeito Coletivo, que tem como base as Teorias das Representações Sociais. O local do estudo foi na APAE de Itajubá. A amostragem foi por conveniência; a amostra foi inicialmente constituída por 30 participantes que possuem filhos com a SD. No entanto, responderam à pergunta semiestruturada 14 participantes, os demais alegaram não ter interesse e estarem cansados em responder perguntas relacionadas ao tema; assim a amostra constou de 14 participantes. Os instrumentos utilizados na coleta de dados foram dois: um roteiro de entrevista semiestruturada e outro que contempla informações relacionadas à caracterização pessoal e profissional dos participantes do estudo. Resultados: As Ideias Centrais (IC) quanto à questão relacionada às facilidades foram: APAE, amigos, nenhuma e psicóloga. Quanto às dificuldades, foram: não teve, muitas dificuldades, não poder estudar em outra escola e saber até onde iria chegar. Já quanto ao apoio, foram as seguintes: APAE e comunidade. Conclusão: Observou-se que o desenvolvimento da pessoa portadora de SD está fortemente relacionado com a APAE, pois foi a própria APAE que os acolheu e os ajudou a conseguirem o que almejaram.Palavras-chave: Síndrome de down; Pais; EnfermagemABSTRACTIntroduction: The Down Syndrome (DS) is a genetic disorder characterized by the additional presence of the chromosome 21 in the patients´ cells and that causes a spectrum of mental retardation. Aims: To identify which difficulties and facilities parents have in raising their children with DS and know what kind of support the parents of DS patients received. Methods: It is a qualitative, descriptive, and exploratory study. For analysis and interpretation of the data it was used the Collective subject discourse technique, which is based on the Theory of Social Representations. The study site was the APAE of Itajubá. Sampling was purposeful; the sample was initially composed of 30 participants who have children with DS. However, only 14 participants answered the semi-structured questions, for the others claimed to have no interest and were tired of answering questions related to the topic; therefore the sample consisted of 14 participants. The instruments used in data collection were two: one set of semi-structured interview questions and another that included information related to the personal and professional characteristics of the participants. Results: The Central Ideas (CI) regarding the question related to the facilities were: APAE, friends, none, and psychologist. As for the difficulties, they were as following: none, many difficulties, not to study in another school and how far they would go. As for the support, they were: APAE and community. Conclusion: It was observed that the development of the DS carrier person is strongly related to APAE because it is the institution that welcomed them and helped them get what they longed for.Keywords: Down syndrome; Parents; Nursing

Jeune Syndrome: Considerations for Management of Asphyxiating Thoracic Dystrophy

2013 ◽  
Vol 32 (5) ◽  
pp. 342-352 ◽  
Author(s):  
Sabrina E. Poyner ◽  
Wanda T. Bradshaw
Keyword(s):  
Genetic Counseling ◽  
Surgical Treatment ◽  
Respiratory Distress ◽  
Respiratory Function ◽  
Neonatal Period ◽  
Genetic Disorder ◽  
Jeune Syndrome ◽  
Risks And Benefits ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction. Management focuses on stabilization and support of respiratory function. Treatment may be palliative in nature or corrective. In recent years, the advance in surgical treatment of the thoracic hypoplasia in JS offers hope to those families with a child suffering from the syndrome. Even with increased research into treatment of this disorder, prognosis is usually poor. Comorbidities associated with JS lead to serious organ dysfunction in later years. Families who have a child with JS need genetic counseling and education focusing on the seriousness of the disorder, the risks and benefits of treatment, and the lifelong needs of those with JS.

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