The European recommendations for primary prevention of congenital anomalies

Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca; Barišić, Ingeborg; Bermejo‐Sánchez, Eva; Bianchi, Francesca; Calzolari, Elisa; Carbone, Pietro; Curran, Rhonda; Garne, Ester; Gatt, Miriam; Irgens, LM; Latos‐Bieleńska, Anna; Khoshnood, Babak; Mantovani, Alberto; Martı́nez-Frı́as, María Luisa; Neville, Anat; Rißmann, Anke; Ruggeri, Stefania; Wellesley, Diana; Dolk, Helen

doi:10.1016/j.reprotox.2014.07.005

Cited by 2 publications

(2 citation statements)

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“…(2015) outlined the benefits of support groups for those with similar diseases [25]. In agreement with this study, Taruscio et al (2014) suggested that an accessible one-stop-shop source of information and support should be an important goal for patients with a rare disease [50]. A reference network 'hub' in Northern Ireland would bring many benefits.…”

Section: Carersmentioning

confidence: 57%

Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate

McMullan¹,

Crowe²,

Bailie³

et al. 2020

Preprint

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Background Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018-2019 using an online survey and semi-structured interviews with rare disease collaborative groups (charities, voluntary and community groups) active across Northern Ireland (NI). Results Ninety-nine participants engaged with the survey with 31 respondents providing detailed answers. Resources such as information, communication, registries, online services, training and improvements to support services were queried. Excellent communication is an important factor in delivering good rare disease support. Training for health professionals was also highlighted as an essential element of improving support for those with a rare disease to ensure they approach people with these unique and challenging diseases in an appropriate way. Carers were mentioned several times throughout the study; it is often felt they are overlooked in rare disease research and more support should be in place for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine semi-structured interviews were conducted with rare disease collaborative groups. Reoccurring themes included a need for more effective: information and communication, training for health professionals, online presence, support for carers, and involvement in research. Conclusions All rare disease collaborative groups agreed that current services for people living and working with a rare disease are not adequate. An important finding to consider in future research within the rare disease field is the inclusion of carers perceptions and experiences in studies. Due to the unique role a carer has in the life of a person with a rare disease it is vital that their voice is heard and their needs are listened to. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs in service provision, and suggests approaches to improve rare disease support prioritising improved information and communication provision, improved access to services, and tailored support for carers of people with a rare disease. Keywords Collaboratives groups; communication; Northern Ireland; online; rare disease semi-structured interview; social media; support; survey

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Section: Carersmentioning

confidence: 57%

Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate

McMullan¹,

Crowe²,

Bailie³

et al. 2020

Preprint

View full text Add to dashboard Cite

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“…In the field of lifestyle, community pharmacists need help prevent overweight/obesity and underweight, to reduce active and passive smoking, promote alcohol avoidance and stop substance abuse [20,21]. If medication could help achieve these goals, it could be considered.…”

Section: Healthy Life-style and Genetic Counseling Before Pregnancymentioning

confidence: 99%

Preconception Pharmaceutical Care & Rare Diseases

Dooms¹

2019

J Rare Disord Diagn Ther

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The objective of this paper is to demonstrate how both individual family physicians and pharmacists, as well as larger primary care organisations can contribute to the implementation of preconception care delivery i.e. to establish the service, to reach the target population and to add sustainably and effectively to the primary goals of preconception care i.e. to modify the risks to the health of future children and more specifically with respect to rare diseases. This paper comprises a short introduction into the contents of preconception care and a structured debate in which implementation options are will be explored such as; seizing opportunities in daily practice, integration in contraception counselling and/or sexual and reproductive health programmes; selection of and outreach to, high risk subgroups defined for example by genetic predisposition, social economic deprivation, chronic diseases etc. The readers are expected to understand options to improve preconception pharmaceutical care applicable in their own healthcare system. Community pharmacists are in a privileged position to implement pharmaceutical care to prevent rare diseases wherever possible by dispensing safe medicines and advising healthy life-style and genetic counselling before conception as well as occasionally referring to the possibility of assisted reproductive technology.

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The European recommendations for primary prevention of congenital anomalies

Cited by 2 publications

References 0 publications

Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate

Good communication is critical to supporting people living and working with a rare disease: current rare disease support perceived as inadequate

Preconception Pharmaceutical Care & Rare Diseases

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