Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

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Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

Backeljauw, Philippe F. (author): Univ Cincinnati, OH 45221 USA

Andrews, Mary (author): Major Aspects Growth Children MAGIC Fdn, IL USA; MAGIC Fdn Int Coalit Org Supporting Endocrine Pat, GA USA

Bang, Peter (author): Linköpings universitet,Avdelningen för barns och kvinnors hälsa,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus

Molle, Leo Dalle (author): Caregiver Representat, OH USA

Deal, Cheri L. (author): Univ Montreal, Canada; Ctr Hosp Univ CHU St Justine, Canada

Harvey, Jamie (author): Major Aspects Growth Children MAGIC Fdn, IL USA; MAGIC Fdn Int Coalit Org Supporting Endocrine Pat, GA USA

Langham, Shirley (author): Great Ormond St Hosp UCL Hosp, England

Petriczko, Elzbieta (author): Pomeranian Med Univ, Poland

Polak, Michel (author): Univ Paris Cite, France

Storr, Helen L. (author): Queen Mary Univ London, England

Dattani, Mehul T. (author): Great Ormond St Hosp UCL Hosp, England; UCL Great Ormond St Inst Child Hlth, England; UCL Hosp, England

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BMC, 2023
2023
English.
In: Orphanet Journal of Rare Diseases. - : BMC. - 1750-1172. ; 18:1

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; show less...

Research review (peer-reviewed)

Abstract Subject headings

Background Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] <= 3.0), low circulating concentrations of IGF-I (SDS <= 3.0), and normal or elevated concentrations of growth hormone (GH). Laron syndrome is the best characterized form of SPIGFD, caused by a defect in the GH receptor (GHR) gene. However, awareness of SPIGFD remains low, and individuals living with SPIGFD continue to face challenges associated with diagnosis, treatment and care. Objective To gather perspectives on the key challenges for individuals and families living with SPIGFD through a multi-stakeholder approach. By highlighting critical gaps in the awareness, diagnosis, and management of SPIGFD, this report aims to provide recommendations to improve care for people affected by SPIGFD globally. Methods An international group of clinical experts, researchers, and patient and caregiver representatives from the SPIGFD community participated in a virtual, half-day meeting to discuss key unmet needs and opportunities to improve the care of people living with SPIGFD. Results As a rare disorder, limited awareness and understanding of SPIGFD amongst healthcare professionals (HCPs) poses significant challenges in the diagnosis and treatment of those affected. Patients often face difficulties associated with receiving a formal diagnosis, delayed treatment initiation and limited access to appropriate therapy. This has a considerable impact on the physical health and quality of life for patients, highlighting a need for more education and clearer guidance for HCPs. Support from patient advocacy groups is valuable in helping patients and their families to find appropriate care. However, there remains a need to better understand the burden that SPIGFD has on individuals beyond height, including the impact on physical, emotional, and social wellbeing. Conclusions To address the challenges faced by individuals and families affected by SPIGFD, greater awareness of SPIGFD is needed within the healthcare community, and a consensus on best practice in the care of individuals affected by this condition. Continued efforts are also needed at a global level to challenge existing perceptions around SPIGFD, and identify solutions that promote equitable access to appropriate care.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)

Keyword

Insulin-like growth factor-I (IGF-I); Severe primary IGF-I deficiency (SPIGFD); Growth hormone insensitivity (GHI); Short stature; Laron syndrome; Diagnosis; Treatment; Quality of life

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By the author/editor: Backeljauw, Phil ...; Andrews, Mary; Bang, Peter; Molle, Leo Dalle; Deal, Cheri L.; Harvey, Jamie; show more...; Langham, Shirley; Petriczko, Elzbi ...; Polak, Michel; Storr, Helen L.; Dattani, Mehul T ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

Articles in the publication: Orphanet Journal ...

By the university: Linköping University

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