Holistic care for a new PWS diagnosis

Case history

A 6 years and 5-month-old female with Prader-Willi Syndrome (PWS) attends endocrine clinic with her mother. She was first seen by the endocrine team at 18 months old and the referral was made by a geneticist. Mum reports she has been obsessive and extremely challenging with her behaviour around food, and she is concerned about her child’s weight.

Early years history

Family history

Health and medical history

Question 1.
Following the results of the initial consultation and investigations carried out at 18 months old, what treatment and monitoring plan would you initiate?

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Addressing weight gain: looking beyond patient factors

Further Medical History

FURTHER HEALTH AND MEDICAL HISTORY

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Question 2.
Reviewing further health and medical history as well as key auxology data from her early years, what observations would you consider to be significant in relation to her increasing weight and BMI? 

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Proactive management: anticipating the biggest challenges

Each child, young person and adult with PWS will have individual needs; however, there are some known common characteristics of PWS.

Question 4.
As part of your consultation there are two other external factors which may impact on
the family’s abilities to support the child’s behaviour, food and weight gain challenges.

Why do you think each of these other factors may be having an impact?

  • Consistency of community paediatrician services

  • Parental carer’s fatigue

  • Family functioning and sibling dynamics

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Ongoing monitoring and role of growth hormone therapy

Further Health and Medical History

FURTHER HEALTH AND MEDICAL HISTORY

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Question 5.
The child is now 6 years 5 months. What investigations under the following headings if any would you need in order to address the main presenting concerns in clinic?
MEASUREMENTS
PATIENT QUESTIONNING
BLOOD TESTS

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Health status at 6 years old

FURTHER HEALTH AND MEDICAL HISTORY

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Question 8.
Additional to the monitoring you have already established in the consultation (Question 5) what further patient monitoring would be beneficial to assessing a child receiving growth hormone therapy?

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Presented by Helen Smart
Senior Endocrine Nurse Specialist
Birmingham Women’s and Children’s NHS Foundation Trust

With assistance from Dr Ruth Krone, Professor Tim Barrett and the support team at PWSA.

 

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