Pediatric Nurse Practitioner Diagnosis and Management of Onteogenesis Imperfecta

Diagnosis 

Since this is a genetic disorder the PNP carefully takes a family history in addition to undertaking a comprehensive medical history and physically examine the patient (Rousseau et al. 2014). The procedure for diagnosing osteogenesis imperfect (OI) may include:

Skin biopsy- this is undertaken for the purpose of evaluating the structure and amount of collagen (Rousseau et al. 2014). However, this is a complicated test, and may not be availed in many organizations. Therefore, the results may take as long as six months to complete.

X-ray: this is a test that makes use of invisible beams of electromagnetic energy for the production of internal tissue images, organs and bones onto a film.

Audiometry: this is competed by conducting a hearing test with the help of electronic tones.

Ear, nose and throat exam: this is conducted for the purpose of detecting hearing loss (Stubbe, Primorac & Höppner, 2017).

Management of osteogenesis imperfect 

The management of the disease includes a focus on prevention and minimization of deformities and maximization of the functionality of children both at home as well as in the community (Stubbe, Primorac & Höppner, 2017). OI management can either be non-surgical or surgical. The non-surgical may be either of the following:

• Regular exercise and a healthy diet- which are meant for weight maintenance.

• Positioning aids. For helping the child to sit, lie, or stand.

• Braces and splints. Meant for deformity prevention and promoting support or protection (Stubbe, Primorac & Höppner, 2017).

• Medications

• Avoidance of smoking

• Avoidance of steroid medications

• Psychological counseling

• Surgery may also be an option to help the child develop ability to stand and sit.

References 

Rousseau, J., Gioia, R., Layrolle, P., Lieubeau, B., Heymann, D., Rossi, A., … Forlino, A. (2014). Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta. European Journal of Human Genetics, 22(5), 667–674.

Stubbe, A., Primorac, D., & Höppner, W. (2017). Molecular genetics analysis of osteogenesis imperfecta in clinical practice. Paediatria Croatica, 61(3), 141–146.