'We don't know what tomorrow will bring': Parents' experiences of caring for a child with an undiagnosed genetic condition

S Aldiss, F Gibson, S Geoghegan… - Child: care, health …, 2021 - Wiley Online Library
Background Families and healthcare professionals caring for a sick or disabled child without
a definitive diagnosis face unique challenges, particularly in relation to managing …

The genetics liaison nurse role as a means of educating and supporting primary care professionals

D Shickle, R Hapgood, N Qureshi - Family practice, 2002 - academic.oup.com
Background. Previous research with primary health care professionals has demonstrated
consistently that education, training and support are necessary before there should be any …

[图书][B] Oxford Desk Reference-Clinical Genetics

HV Firth, JA Hurst, JG Hall - 2005 - academic.oup.com
This title has become the bible for clinical consultation in genetics. It covers the process of
diagnosis, investigation, management, and counselling for patients. The authors have used …

The political empowerment of rare disease patient advocates both at EU and national level

T Andersen - Orphanet Journal of Rare Diseases, 2012 - Springer
Thirty years ago, the patients were left with many uncertainties, no networks and no access.
The rarity of the disease made it difficult to identify specialists, little information could be …

Family medicine is coming of age in sub-Saharan Africa: letter: correspondence

R Mash - South African Family Practice, 2008 - journals.co.za
Recently I had the privilege of visiting Botswana and Malawi and discussing the
development of family medicine training programmes in these two countries. The outcome is …

Are Australasian genetic counselors interested in private practice at the primary care level of health service?

V Sane, L Humphreys, M Peterson - Journal of genetic counseling, 2015 - Springer
This study explored the perceived interest in development of private genetic counseling
services in collaboration with primary care physicians in the Australasian setting by online …

[PDF][PDF] The experiences and preferences of people receiving genetic information from healthcare professionals

S Burke, C Bennett, J Bedward… - … : NHS National Genetics …, 2007 - researchgate.net
Increasing numbers of people and their families are asking whether their medical condition
may have a genetic cause, and may approach a healthcare professional for more …

[图书][B] Social work and genetics: A guide for practice

S Schild, RB Black - 1984 - books.google.com
A significant contribution to professional training, Social Work and Genetics is a guide to
social work practice with clients who have genetic problems. Through their rich clinical …

Parental stress and support of parents of children with spina bifida in Uganda

F Bannink, G Van Hove, R Idro - African journal of disability, 2016 - journals.co.za
Background: Children with disabilities in Sub-Saharan Africa depend for a large part of their
functioning on their parent or caregiver. This study explores parental stress and support of …

Burden of care in families of patients with rare genetic diseases: Analysis of a large Italian cohort

A Moretti, P Cianci, A De Paoli, F Meroni, S Taje… - European journal of …, 2021 - Elsevier
In the last decade, the number of children and youth with special health care needs
(CYSHCN) is increased as a result of the improvement of neonatal and pediatric assistance …