Osteogenesis imperfecta type III in South Africa: Psychosocial challenges

Stephen, Lawrence; Roberts, Tina; Hayden, Eoghan

doi:10.7196/samj.2016.v106i6.11005

Cited by 6 publications

(13 citation statements)

References 4 publications

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“…An article by Stephen et al highlights the psychosocial challenges of osteogenesis imperfecta Type III in South Africa [14]. Parents had initial feelings of shock, depression and anxiety as they now had a child with a physical disability [14]. These feelings then progressed to helplessness, loneliness and stress with unexpected financial implications [14].…”

Section: Discussionmentioning

confidence: 99%

Osteogenesis Imperfecta: One Disease, Two or More Faces: A Case Report

Chhiba¹,

Nakwa²,

Thandrayen³

2023

CRCM

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Being such a rare condition in paediatrics, osteogenesis imperfecta (OI) is not a diagnosis which is made often. It is however, a diagnosis necessitating early diagnosis and timeous and effective management to improve morbidity and increase the quality of life for our patients. We report two cases of osteogenesis imperfecta in this case report to highlight the different phenotypic presentations. Both of these patients are unique in their presentations and each case highlights the importance of a high clinical index of suspicion by the practitioner in making the diagnosis of osteogenesis imperfecta. The first case is a patient who was diagnosed with osteogenesis imperfecta on day one of life. She had disproportionate short stature, blue sclera, a small chest and bowing of her lower limbs with swellings and tenderness over both of her femurs. A babygram radiograph revealed multiple fractures, with the presence of callus formation at some fracture sites suggesting intrauterine fractures. The second case is a patient who had normal anthropometry and was well at birth. She was subsequently diagnosed at two weeks of age when she presented to the

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Section: Discussionmentioning

confidence: 99%

Osteogenesis Imperfecta: One Disease, Two or More Faces: A Case Report

Chhiba¹,

Nakwa²,

Thandrayen³

2023

CRCM

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“…Despite their physical limitations and motor impairment, patients with RBD often present normal or higher degree of social, communicative and resilience skills. For example, people affected with OI often achieve high educational and employment levels [53][54][55]. The Quality of Life of people with OI, from childhood to adulthood, show more restrictions regarding physical activities, whereas socio-cultural and mental QoL seem to be less affected [56][57][58].…”

Section: Psychological Aspectsmentioning

confidence: 99%

“…-As long as it is possible, using appropriate PPE, the presence of a family member should be fostered in order to: instruct health care staff to correctly and safely handle the patient's body; inform on past and present difficulties and dysfunctions; help the patient with their daily routine [53][54][55]62]. -At any age, patients with RBD need to be adequately informed of their conditions.…”

Section: Psychological Aspectsmentioning

confidence: 99%

“…-RBD patients can give relevant suggestions to health care staff to handle their body and about their pathology characteristics and limitations. Never underestimate an active listener [55,58]. -Short stature is common in adult OI patients, but it should be always be avoided to treat them like children.…”

Section: Psychological Aspectsmentioning

confidence: 99%

“…Due to the intense stress for the risk of fractures and death, often already experienced in previous hospitalizations, patients are at a high risk of posttraumatic stress disorder (PTSD). Psychological support for the patients and their families might be advisable[55,[60][61][62][63].The role of patients' associationsPatient Associations have always been a point of reference for their communities. The comparison and dialogue among associates are the main activity of the Associations and today this occurs more and more frequently through ways of communication such as video conferences or social networks.…”

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confidence: 99%

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Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

Brizola

Adami

Baroncelli

et al. 2020

Orphanet J Rare Dis

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During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care.

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