IMD WATCH
Anita MacDonald (Birmingham Children`s Hospital)
Karen Van Wyk (Royal Manchester Children`s Hospital)
Rachel Skeath (Great Ormond Street Hospital)
Pat Portnoi (Dietitian to the Galactosaemia Support Group).
DEVELOPMENT OF EDUCATIONAL TEACHING PACKAGES (TEMPLE) ON INHERITED METABOLIC DISEASES For parents and health professionals in the UK. There are many rare inherited metabolic disorders (IMD). These can be complex, may be managed with diet therapy with or without medications and some patients are at acute risk of acute metabolic decompensation. Increasing numbers of infants are being diagnosed by newborn screening in the first few weeks of life. However, as we still only test for a narrow range of conditions, some infants will present acutely unwell in the neonatal period. The diagnosis of a metabolic disorder is overwhelming for parents and families and they are unlikely to have previously heard of the condition. To a family, the name of the condition is complex and they may be unsure as to how to pronounce the condition or spell it correctly. Internet information may be sparse and alarmist and initial explanations of the condition may use terminology that sounds like biochemical gobbledygook. Families may feel isolated and the entire experience is very frightening with many concerns about the future. There is very little professional information available that is clear and accurate and not often written in a language that everyone understands. For disorders of protein metabolism, it is not uncommon for professionals to adapt information written for the most common disorder, phenylketonuria (PKU), but families rarely receive well produced information about their child’s specific condition unless it is via a patient society or commercial company. In 2012, a set of structured, modular teaching slides for parents/caregivers
following a positive newborn screening test was developed by Drs Wendel and Burgard from Heidelberg, Germany. This was a comprehensive package which helped to guide medical doctors to ensure that any teaching given to parents/caregivers was delivered in a consistent and standardised manner using materials produced by considered methodology. The educational package was titled TEMPLE (Tools Enabling Metabolic Parents LEarning) and the information was very structured, designed for use primarily in Germany. It covered a range of IMD and was organised so that the health professionals had a systematic plan for teaching about each disorder. It even gave health professionals guidance on the best seating plans for clinic rooms. Although this was a commendable endeavour, the information was complex and unsuitable for lay people if they lacked background knowledge or biochemical skills. In 2014, the British Inherited Metabolic Disorders Group (BIMDG)dietitians group examined the work by Wendel and Burgard and with permission from Nutricia (who had bought the rights to the teaching package) decided to adapt the original teaching package into ‘friendly’ and understandable teaching slide sets and booklets that could be used as a basis to explain different IMD to parents. In keeping with the philosophy of the creators of the first teaching package, it was important to approach the ‘content’ of the teaching package in a manner that would help standardise how complex IMD are explained to families in the UK. Even when working
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IMD WATCH Figure1: TEMPLE online and downloadable from www.bimdg.org.uk
TEMPLE in booklet form
in the field of IMD, it is not uncommon to manage a small number of patients with each condition, so the opportunity to practice and perfect teaching methods for an individual condition is limited. Some patients may also be managed by dietitians working in district general hospitals who may care for one or two patients only. In the autumn of 2014, the BIMDG-dietitians group formed a small working party to adapt the original teaching package and produce a set of standardised teaching materials for the most common disorders. The working group included Pat Portnoi, Rachel Skeath, Karen van Wyk and Anita MacDonald. We prioritised the IMD conditions which would particularly benefit from the production of TEMPLE teaching materials and where dietary management played an important part. • Conditions diagnosed by newborn screening: these are Phenylketonuria (PKU), 34
• • • • • •
Maple Syrup Urine Disease (MSUD), Homocystinuria (HCU), Isovaleric acidaemia (IVA) Glutaric aciduria type 1 (GA1) and Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Other amino acid disorders: Tyrosinaemia type I (HTI), Tyrosinaemia type II Other organic acidaemias: Methylmalonic acidaemia and Propionic acidaemia Urea cycle disorders: Citrullinaemia, Arginosuccinic aciduria, OTC Deficiency, Arginase Deficiency Galactosaemia Other fatty acid oxidation disorders: VLCADD and VLCHAD Glycogen storage disease: Type 1a and 1b, 3, 6 and 9
The modules chosen focused on conditions where dietary treatment played an important role in management.
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Figure 2: Slides from the MCADD TEMPLE
TEACHING MATERIAL PRODUCTION
The teaching slides and booklets are developed as a series of modules that provide simple but core information. They are designed as a teaching resource for dietitians working with parents of a newly diagnosed infant or child with inherited metabolic disorders. These teaching materials can also be used to teach children about their disorder, as well as to extended family members, child minders, nursery workers and schools. The information is provided in a consistent way; it is informative, but easy for families to understand immediately after their infant or child has been diagnosed. It is not designed to replace dietary information that may be given by a dietitian, but the TEMPLE teaching material is ideal to use when the first explanation of the condition is given to families. It should then be followed by more detailed dietary information.
A rigorous process is undertaken in the production of each TEMPLE module. The wording and format is agreed by all the working group team members, they are checked for consistency with other modules and each one is reviewed by an IMD physician. The working group have one face-to-face meeting annually and the rest of the work is conducted by evening telephone conferences. TEMPLE teaching materials are available in two formats, online and downloadable via www.bimdg.org.uk and in booklet form for new families to take away (see Figure 1). The artwork was produced by Nutricia, although specific guidance about the graphics BIMDG working group of was given by the BDIMG dietitians. It was important that the TEMPLE tool was not used to advertise commercial products.
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IMD WATCH DEVELOPMENT FOR UK USE
Format of the teaching material The teaching slides include the following: 1. Explanation of the condition and its pathophysiology 2. The function and metabolism of the nutrient affected by the disorder, e.g. protein, fat or carbohydrate 3. Outcome with and without treatment 4. Method of diagnosis 5. Dietary management and other treatment 6. Illness management 7. Treatment monitoring 8. Genetics Each TEMPLE slide set is colour coded to help differentiate each condition (see Figure 2 on previous page). FUTURE PLANS
So far, 11 modules are completed and are available online via the BIMDG (education section) and most are already in booklet format. Some new editions will follow in early 2018). It is planned that for two of the rarer conditions (Arginase Deficiency and Tyrosinaemia type II), the TEMPLE teaching module will be online only. TEMPLE is a long-term project and already the original eight temple modules that were produced have been updated. Over the next two years, it is planned to develop the remaining TEMPLE modules. We plan to formally evaluate this work in 2018 and we always welcome feedback from all ‘users’. We hope to have links with the NSPKU, CLIMB and Galactosaemia Support Group websites. Already this work is being adapted throughout the world. For example, teams in the USA have been able to extend this work by producing short teaching videos and have used much of the format chosen by the BIMDGdietitians group rather than the original Wendel/ Burgard work. It will be exciting to see how far this project will progress in the future.
TEMPLE TIMELINE 2012
Burgard and Wendel finish TEMPLE in Germany. It was developed over 12 years
2013
Nutricia bought exclusive rights to translate, adapt and distribute translate from German into English
2014
BIMDG-dietitians group set up; start on GA1 module
Sep 2015
SSIEM Poster presented on TEMPLE UK - 4 modules GA1, IVA, MSUD, HCU
Oct 2015
ISNS Poster presented on TEMPLE UK - 5 modules-GA1, IVA, MSUD, HCU, PKU
Nov 2016 First versions available on the BIMDG website
2016
Further modules developed MCADD, MMA, PA, HT1
Feb 2017
All Modules refined and standardised; Version 2 available
Aug 2017 New Versions available on the BIMDG website
Oct 2017
Citrullinaemia and Galactosaemia module available
International versions become available in slide and video form (USA)
Acknowledgements This project would not have been possible without the considerable support of the Nutricia team who provided artwork, financial and administrative support. We would particularly like to recognise the help and support of Diana Webster (involved for the initial part of the project), Rychelle Walker (involved for part of the project), Ewan Forbes (Nutricia, who has been a key member), Heidi Chan (Nutricia, who joined the group in 2016). 36
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