European registry and network for Intoxication type Metabolic … · 2 Description of the...
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Programme of community action in the field of health (2008-2013) European registry and network for Intoxication type Metabolic Diseases (E-IMD) Contract no: 2010 12 01 Deliverable 05: Training course (Orphan Europe Academy) June 2014
Transcript of European registry and network for Intoxication type Metabolic … · 2 Description of the...
Programme of community action in the field of health (2008-2013)
European registry and network for Intoxication type Metabolic Diseases (E-IMD)
Contract no: 2010 12 01
Deliverable 05: Training course (Orphan Europe Academy)
June 2014
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Description of the deliverable
A training course focusing on OADs and UCDs will be held for 35 trainees in Pediatric Metabolic Medicine. In particular,
trainees from EU countries with underdeveloped services for these diseases will be preferentially invited.
Contents 1. Neurological manifestations of metabolic disorders from paediatrics to adults .................................................................... 3
1.1. Description ........................................................................................................................................................................... 3
1.2. Programme .......................................................................................................................................................................... 4
1.3. Results of the evaluation report .......................................................................................................................................... 6
1.4. Participant .......................................................................................................................................................................... 10
2. E-learning hyperammonemia module .................................................................................................................................. 16
2.1. Course description ............................................................................................................................................................. 16
3. 1st Advanced Meeting on metabolic and genetic disorders affecting the Liver, Rome Italy, 28-30 March 2012 ................ 17
3.1. Course description ............................................................................................................................................................. 17
3.2. Programme ........................................................................................................................................................................ 17
3.3. Participants and speakers .................................................................................................................................................. 19
3.4. Evaluation report ............................................................................................................................................................... 21
4. Inherited metabolic diseases for the internist, Amsterdam, 6-8 June 2012 ......................................................................... 27
4.1. Course description ............................................................................................................................................................. 27
4.2. Programme ........................................................................................................................................................................ 27
4.3. Participants and speakers .................................................................................................................................................. 29
4.4. End of course evaluation ................................................................................................................................................... 33
5. European inborn errors of metabolism general course, Warsaw, Poland 25-29 September 2012 ...................................... 39
5.1. Course description ............................................................................................................................................................. 39
5.2. Programme ........................................................................................................................................................................ 39
5.3. Participants and speakers .................................................................................................................................................. 42
5.4. Results of the course evaluation ........................................................................................................................................ 46
6. Behavioural and psychiatric aspects of inborn errors of metabolism, Paris, France, 23-24 May 2013 ................................ 52
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6.1. Course description ............................................................................................................................................................. 52
6.2. Programme ........................................................................................................................................................................ 52
6.3. Participants and speakers .................................................................................................................................................. 53
6.4. End of course evaluation ................................................................................................................................................... 58
Summary of achievements
The rarity of patients and the high phenotypic heterogeneity of RD combined with the lack of knowledge, information and
training about these diseases result in frequent delays in correct diagnosis and installation of appropriate care and treatment,
if available. This impacts survival and quality of life.
The mission of the Orphan Europe Academy education in rare diseases is to promote the accurate diagnosis and management
of patients affected by a rare disease by increasing knowledge, information and training. These courses were developed in
collaboration with E-IMD partners.
Over the period 2011 -2014 six specific courses addressing paediatric, adolescent and adult intoxication type metabolic
diseases were organised.
Overall 176 trainees participated and 83 speakers contributed to live courses and over 100 trainees followed the e-
learning course to further understanding of these rare intoxication type metabolic diseases. All courses were externally
evaluated by the European Accreditation Council for Continuing Medical Education (EACCME) to provide CME activities
for medical specialists. The EACCME is an institution of the European Union of Medical Specialists (UEMS),
www.uems.net.
1. Neurological manifestations of metabolic disorders from paediatrics
to adults
1.1. Description
This course was designed for paediatricians, neurologists and internists wanting to complete their knowledge on the neurological aspects of inborn errors of metabolism (IEM). Most IEM involve the nervous system. Neurological complications often constitute the clinical presentation in both paediatric and adult onset forms or they may develop later during follow up. However despite the frequent occurrence in IEM the diagnosis and management are complex because:
The characteristics of rare disorders: limited number of patients with many different diseases, scarcity of knowledge and expertise; means that very few neurologists or neuropaediatricians are familiar with all the differential diagnoses.
Adult and children phenotypes can be very different and the clinical approach should be adapted. Recognising
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IEM is particularly difficult in mild late onset forms.
In many centres, neuropaediatricians are asked to give advice on IEM in adults. Whilst adult neurologists and internists are frequently treating adult patients who presented with their first clinical symptoms in childhood but in whom the correct diagnosis was missed.
Therefore, the aim of this course was to bring together paediatricians, internists and neurologists to give a complete picture of all neurological manifestations or complications in IEM. This was achieved by bringing together over twenty experts presenting disorders from both a paediatric and adult medicine perspective. The course was interactive and participants were asked to present a short case study to illustrate a particular diagnostic or clinical management problem. Small groups worked together in workshops and a specific session was dedicated to unresolved cases.
The course was designated for a maximum of 18 European CME credits by the European Accreditation Council for
Continuing Medical Education (EACCME).
1.2. Programme
Introduction to the brain’s metabolism
14:00 Potential mechanisms determining age at onset
of metabolic diseases
Jean-Marie Saudubray & Frédéric Sedel, Paris
14:45 Brain lipids metabolism
Marie Vanier, Paris
15:15 Blood brain barrier and metabolic diseases
Stefan Kölker, Heidelberg
16:00 Coffee break
16:30 Brain energy metabolism
Fanny Mochel, Paris
17:00 Discussion
17:15 Neurological manifestations of respiratory chain
disorders
Jan Smeitink, Nijmegen
18:15 Case presentation and discussion
Ruth Bindels Dubois, Peru
Diego Martinelli, Italy
18:45 End of day
THURSDAY 16 JUNE
Energy metabolism disorders (cont’d)
08:30 Disorders of brain carbohydrate metabolism
GLUT1, PDH: Michèl Willemsen, Nijmegen
Glycogen: Fanny Mochel, Paris
09:15 Case presentation and discussion
Luc Regal, Belgium
09:30 Disorders of fatty acids beta-oxidation
In paediatrics: Andrew Morris, Manchester
In adults: Pascal Laforêt, Paris
10:15 Case presentation
Daniela Cristina Buhas, Canada
Marja Lähde, Finland
10:45 Coffee break
11:15 Expert panel: unresolved cases presented by
participants
Paulo Rego Sousa, Portugal
Patricia Janeiro da Nóbrega, Portugal
Michelle Lipke, Australia
Karin Naess, Sweden
Sunita Venkateswaran, Canada
12:45 Lunch
14:00 Workshops
A - Myopathies
Andrew Morris, Manchester & Pascal Laforet, Paris
B - Metabolic Leukodystrophies
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Nicole Wolf, Amsterdam & Frédéric Sedel,Paris
16.00 Coffee break
C - Movement disorders
Angela Garcia, Barcelona & Emmanuel Roze, Paris
18:00 End of day & free evening
FRIDAY 17 JUNE
Protein metabolism
08:30 Clinical concerns of PKU in children and adults
Elaine Murphy, London
09:00 Case presentation and discussion
R P Singh, UK
09:15 Clinical concerns of organic aciduria
Emmanuel Roze, Paris
Alberto Burlina, Padua
10:00 Case presentation and discussion
Alexander Broomfield, UK
10:15 Coffee break
10:30 Diagnostic approach to homocystinuria
In paediatrics: Manuel Schiff, Paris
In adults: Frédéric Sedel, Paris
11:15 Diagnostic approach to hyperammonemia
In paediatrics: Vassili Valayannopoulos, Paris
In adults: Daniel Rabier, Paris
12:00 Case presentation and discussion
Miriam Rigoldi, Italy
Katrinel Iliescu, Romania
Ichraf Kraoua, Tunisia
12:45 Lunch
14:00 Workshops
A - Acute encephalopathy
Robin Lachmann, London & Alberto Burlina, Padua
B - Psychiatric and behavioural disorders
Angela Garcia, Barcelona & Frédéric Sedel, Paris
16.00 Coffee break
C - Lumbar puncture
Ron Wevers, Nijmegen
SATURDAY 18 JUNE
Title Disorders of Organelles metabolism
08:30 Lysosomes-sphingolipidosis
In paediatrics: Frits Wijburg, Amsterdam
In adults: Antonio Federico, Sienna
09:15 Case study and discussion
Magalie Barth, France
09:30 Neurological CDG overview
Eva Morava, Amsterdam
10:15 Case study and discussion
Anabela Bandeira, Portugal
10:30 Coffee break
11:00 Peroxisomal disorders
Patrick Aubourg, Paris
11:30 Case study and discussion
Charles Lourenço, Brazil
Shoko Komatsuzaki, Japan
12:00 End of course evaluation
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1.3. Results of the evaluation report
Evaluation forms were completed by 31 participants who came from different countries (see list of participants).
The aim of the evaluation form is to assess participant satisfaction and ways of improving future courses. The analysis
shows that the course reached a very high level of appreciation and constructive comments were provided for future
courses (see full list of comments provided in the annex).
Overall rating
Participants were asked answer the question using a 5 point scale (1=poor, 5=excellent)
Excellent67%
Very good30%
Good3%
Answers
Diagram 1: the overall rating of the course was excellent
Medical degree course
Diagram 2: Delegates by specialty
Neurology26%
Paediatrics12%
Paediatric metabolic medicine
41%
Adult metabolic medicine
18%
Genetics 3%
Medical degree course
37.5% 62.5%
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Rating of each presentation: Diagram 4: rating of each presentation for its content and style expressed as % using a 5
point scale (1=poor , 5=excellent)
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Diagram 5: rating of each presentation for its content and style expressed as % using a 5 point scale
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Helpfulness of the course
Participants were asked if the course was helpful in assisting them to manage every day work and if it was efficient in
encouraging them to continue further training:
Length of the course
30 individuals found the length of the course just right whilst 1 found it too short.
Course met expectations
Out of the 31 evaluation forms, 30 replied favourably to the question: “did the course meet their expectations?” and 1
person answered “no”.
Improvements for the next course
26% of the participants replied they would not change anything if the course is organised again in the future while
39 % suggested more practical work; 3% would like more theory 6% would like the level of the course to be lower and
13% to be higher.
Diagram 4
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1.4. Participant
Rawda Al Sunbul
Qatif Central Hospital Pediatrics P O Box 693 31911 Qatif Saudi Arabia [email protected] +966 53824450 Maria del Mar Amador GH Pitié Salpétrière Neurology Boulevard de l'Hôpital 75013 Paris France [email protected] +33 637600136 Hernan Amartino Hospital Universitario Austral Child Neurology J D Peron 1500 B1629AHJ Pilar, Bs As Argentina [email protected] + 54 91149475492 Paula Avram IMCC Emergency Department 120 Lacul Tei Blv 20395 Bucharest Romania [email protected] +40 722736136 Anabela Bandeira Centro Hospitalar do Porto Pediatrics Largo Professor Abel Salazar 4099-001 Porto Portugal [email protected] +351 968170699
Magalie Barth CHU Angers Genetique 4, rue larrey 49000 Angers France [email protected] +33 682765295 Tawfeg Ben-Omran Hamad Medical Corporation Clinical and Metabolic Genetics, Department of Pediatrics 3050 Doha Qatar [email protected] +974 5823088 Ruth Bindels Dubois Hospital Nacional Docente Madre Niño San Bartolome Pediatrics Avda. Alfonso Ugarte 825 Lima 14 Peru [email protected] +51 1-999182222 Flavie Bompaire Val de Grace Neurology 74 boulevard de Port-Royal 75015 Paris France [email protected] +33 675845038 Alexander Broomfield Great Ormond Street Hospital Metabolic Disease Great ormond street WC1N 3JH London United Kingdom [email protected] +44 7769172265
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Daniela Cristina Buhas CHU Sainte-Justine Medical Genetics 3175 Cote-Sainte-Catherine H3T1C5 Montréal Canada [email protected] +1 514 345 4931, int 4622 Caterina Dompe' Italian Public Health System ASLTO2 (Torino) Via Romita 14 10137 Torino Italy [email protected] +39 3471384590 Ali Dursun Hacettepe University Department of Pediatrics Metabolic unit 6100 Ankara Turkey [email protected] + 90 3123100863 Shahla Farshidi Hopegene fundation Newborn screening &metabolic disease Separ 1518644874 Tehran Iran, Islamic Republic Of [email protected] +98 2188779007 Cheuk Wing Fung Division of Child Neurology, Developmental Paediatrics Department of Paediatrics and Adolescent Medicine Pokfulam Hong Kong [email protected] +852 2855-4482
Arlindo Guimas Hospital Santo Antonio Internal Medicine Rua Duotor Alves da Veiga, 202 4000-072 Porto Portugal [email protected] +351 963011000 Christine i Dali Rigshospitalet Clinical Genetics 4062 Blegdamsvej 9 2100 Copenhagen Denmark [email protected] +45 35451302/4525229155 Catrinel Illiescu Clinical Hospital "Pr Dr Al Obregia" Pediatric Neurology Berceni Av 10-12 41902 Bucharest Romania [email protected] +40 722966125 Elisabeth Jameson Royal Manchester Childrens Hospital Biochemical Genetics Oxford Road M13 9WL Manchester United Kingdom [email protected] +44 7861298377 Patrícia Janeiro da Nóbrega Unidade de Doenças Metabólicas Hospital de Santa Maria Praceta 1 de Maio n12 3Dto 2745 Monte Abraão Portugal [email protected] +351 910956516
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Shoko Komatsuzaki Tohoku University Medical Genetics 1-1 Seiryoumachi 9808574 Sendai Japan [email protected] +81 22-717-8140 Ichraf Kraoua National Institute of Neurology Department of Child and Adolescent Neurology La Rabta 1007 Tunis Tunisia [email protected] +216 98298553 Marja Lähde North Karelia Central Hospital Pediatric Neurology Arppentie 4 80170 Joensuu Finland [email protected] +358 452043965 Michelle Lipke the Sydney Children's Hospital Genetics/Metabolic High Street 2031 Randwick Australia [email protected] +61 2 93821111 Charles Lourenco University of Sao Paolo Neurology Rua Albert Einstein, N. 1334, APT 12, Bloco C 14051110 Ribeirao Preto Brazil [email protected] +55 1636022616 Maria Carmo Macário Coimbra University Hospital Neurologic department Avenida Bissaya Barreto 3000-075 Coimbra Portugal [email protected] +351 210436971
Nawal Makhseed Ministry of health Pediatrics 42 1234 Sulibaikat Kuwait [email protected] +971 17610 Diego Martinelli Bambino Gesù Children's Hospital Unit of Metabolism, Department of Pediatrics Piazza Sant'Onofrio,4 165 Rome Italy [email protected] +39 06/68592225-2275 Wouter Meersseman University hospital Adult Metabolic Unit Herestraat 49 3000 Leuven Belgium [email protected] +32 16344275 Maria J. Miranda Glostrup University Hospital Paediatrics, Paediatric Neurology Nordre Ringvej 57 2600 Glostrup Denmark [email protected] +45 20939734 Caroline Moreau CHRU Lille Neurology Rue Emile Laisne 59037 Lille France [email protected] +33 320446752 Karin Naess Karolinska University hospital Dep. of Neuropediatrics and Centre for inherited medicine C172 S-14186 Stockholm Sweden
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[email protected] +46 70-7432146 Maria Cristina Neves Garrido Hospital Geral de Stº António Paediatrics Largo Prof. Abel Salazar 4099-001 Porto Portugal [email protected] +351 210436971 Germaine Pierre Bristol Royal Hospital for Children Inherited Metabolic Disorders Upper Maudlin Street BS2 8BJ Bristol United Kingdom [email protected] +44 (0)1173428513 Silvija Puseljic Clinical hospital centre Pediatric J.Huttlera 4 31000 Osijek Croatia [email protected] +385 31512273 Luc Regal University Hospital Leuven Pediatrics-pediatric metabolic disorders Herestraat 49 3000 Leuven Belgium [email protected] +32 16343820 Paulo Rego Sousa Central Hospital of Funchal Paediatric, Paediatric Neurology Unit Av. Luís de Camões 9000 Funchal Portugal [email protected] +351 966531441 Rosa Ribeiro Centro Hospitalar do Porto Internal Medicine travessa do Paço 66 4405-602 Porto
Portugal [email protected] +351 919446948 Miriam Rigoldi San Gerardo Hospital of Monza Center for Metabolic Disorders Pediatric Dep. via Pergolesi, 33 20052 Monza Italy [email protected] +39 0392333286 Ignacio Rubio-Agusti National Hostpial for Neurology and Neurosurgery Charles Dent Adult Metabolic Unit Queen Square, 33 WC1N 3BG London United Kingdom [email protected] +44 7830024842 Noora Shahbeck Hamad medical corporation Paediatrics/metabolic 42 3050 974 Doha Qatar [email protected] +974 55529263 R P Singh University Hospital of North Staffordshire, Stoke- Paediatrics 1 Kensington Gardens WA15 9DP Hale, Cheshire United Kingdom [email protected] +44 7947722033 Teresa Maria Temudo Hospital Geral Santo António Head of Paediatric Neurology Largo Prof. Abel Salazar 4099-001 Porto Portugal [email protected] +351 210436971 Karin Tuschl UCL Institute of Child Health Clinical and Molecular Genetics Unit
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30 Guilford Street WC1N 1EH London United Kingdom [email protected] +44 7894205819 Hannerieke van den Hout Erasmus medical centre Centre for lysosomal and metabolic diseases Dr molenwatwrplein 60 2351 WE Rotterdam Netherlands [email protected] +31 6 14773712 Sunita Venkateswaran Children's Hospital of Eastern Ontario Neurology 401 Smyth Road K1H8L1 Ottawa Canada [email protected] +1 613 737 7600 x 3717 LIST OF SPEAKERS
Alberto Burlina
University Hospital Division of Metabolic Disorders Via Giustiniani, 3 35128 Padova Italy [email protected] Antonio Federico University Hospital Sienna Department of neurology Viale Bracci 2 53100 Sienna Italy [email protected] Angela Garcia-Cazorla Hospital Sant Joan de Deu Barcelona Servicio de Neurologica Passeig Sant Joan de Deu, 2 08950 Barcelona Spain [email protected] Stefan Kölker Zentrum für Kinder- und Jugendmedizin Angelika-Lautenschläger-Klinik Dept of General Pediatrics
Im Neuenheimer Feld 430 69120 Heidelberg Germany [email protected] Robin Lachmann National Hospital for Neurology and Neurosurgery Charles Dent Metabolic Unit Queen Square WC1N 3BG London United Kingdom [email protected] Pascal Laforêt Hôpital Pitié-Salpêtrière Institut de myologie 47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13 France [email protected] Fanny Mochel Pitié-Salpêtrière Hospital INSERM 47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13 France [email protected] Eva Morava UMC St Radboud 833 Dept. Of Metabolic diseases PO Box 9101 6500 HB Nijmegen Netherlands [email protected] Andrew Morris Saint Mary's Hospital, Willink Biochemical Genetics Unit Genetic Medicine, 6th floor Oxford Road M13 9WL Manchester United Kingdom [email protected] Elaine Murphy National Hospital for Neurology and Neurosurgery Charles Dent Metabolic Unit Queen Square WC1N 3BG London United Kingdom [email protected]
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Daniel Rabier Necker-Enfants Malades Hospital Laboratoire de biochimie 149, rue de Sèvres 75743 Paris Cedex 15 France [email protected] Emmanuel Roze Hôpital Pitié-Salpêtrière 47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13 France [email protected] Jean-Marie Saudubray Pitié-Salpêtrière Hospital Consultant - Inherited metabolic diseases 47 boulevard de l'Hôpital 75651 Paris Cedex 13 France [email protected] Manuel Schiff Hôpital Robert Debré Inserm U676 Boulevard Sérurier 75019 Paris France [email protected] Frédéric Sedel Pitié-Salpêtrière Hospital Federation of nervous system diseases 47 boulevard de l'Hôpital 75651 Paris Cedex 13 France [email protected] Jan Smeitink UMC St Radboud Institue for Genetic and Metabolic Disease PO Box 9101 6500 HB Nijmegen Netherlands [email protected]
Vassili Valayannopoulos Necker-Enfants Malades Hospital Metabolic diseases 149, rue de Sèvres 75743 Paris France [email protected] Marie Vanier Faculté de Médecine Lyon-Est Claude Bernard INSERM unité 820 7 Rue Guillaume Paradin 69008 Lyon France [email protected] Ron Wevers UMC St Radboud 833 LGEM PO Box 9101 6500 HB Nijmegen Netherlands [email protected] Frits Wijburg Academic Medical Centre Department of Paediatrics Meidergdreef 9 1105 DE Amsterdam Netherlands f.a.wijburg@ amc.uva.nl Michel Willemsen UMC St Radboud 818 Dept. of Paediatric Neurology PO Box 9101 6500 HB Nijmegen Netherlands [email protected] Nicole Wolf VU Medical Centre Child neurology De Boelelaan 1117 1081 HV Amsterdam Netherlands [email protected]
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2. E-learning hyperammonemia module
2.1. Course description
Hyperammonemia is associated with a number of inherited disorders. If not recognised and treated urgently it
causes severe permanent damage to the central nervous system. In order to provide optimal care for patients,
it is essential that health professionals involved in the diagnosis and management of inherited metabolic
disease have a thorough understanding of this condition. The purpose of this e-learning is to ensure an
appropriate level of knowledge for those training in this area of medicine.
This is the first of a series of online learning modules which aims to provide physicians world-wide with
clinically useful and most up-to-date information concerning the current knowledge and the management
strategies of hyperammonemia. This project is designed for pediatricians, neurologists and allied health
professionals who manage, treat or refer patients in this field.
Practitioners will benefit from our interactive e-learning module and be able to test their knowledge, read case
studies and enhance their overall understanding of hyperammonemia.
The experience will include:
working through clinical scenarios to make the experience interactive; questions can only be
satisfactorily answered by reference to the literature or text books to obtain all the information
required
downloadable .pdf written halfway between the formality of a book and the informality of a
seminar to make them user-friendly and accessible
assessments and end of module assessment carrying EACCME credit
course specific webpages with electronic versions of study materials
online forums for networking with fellow students and tutors
The learner should expect that it takes about ten hours to complete the hyperammonemia module. H/she can
study anytime over a recommended period of 6 months, extendable to one year
To be included after accreditation evaluation The “E-learning course in hyperammonemia” is accredited by the
European Accreditation Council for Continuing Medical Education (EACCME) to provide this CME activity for
medical specialists. The EACCME is an institution of the European Union of Medical Specialists (UEMS),
www.uems.net. Each of the three modules is designated for a maximum of 3 European CME credits (9 CME
credits for the total course). Each medical specialist should claim only those hours of credit that he/she
actually spent in the educational activity. EACCME credits are recognised by the American Medical Association
towards the Physician's Recognition Award (PRA). To convert EACCME credit to AMA PRA category 1 credit,
contact the AMA.
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3. 1st Advanced Meeting on metabolic and genetic disorders
affecting the Liver , Rome Italy, 28-30 March 2012
3.1. Course description
This expert meeting is a high-level course on inherited metabolic and other genetic disorders affecting the liver.
The meeting is organized on behalf of the Orphan Europe Academy and is intended for paediatric and adult
hepatologists, hepatic surgeons and metabolic specialists and will be held in Rome, in collaboration with the
Bambino Gesù Children's Hospital.
The aim of the meeting is to share experience in the management and outcome of these rare disorders where
individual experience is by their nature limited. Participants are asked to bring cases for discussion during the
workshops
Each workshop will be introduced with a brief 15 minutes overview from the co-chairs of the particular workshop;
whilst the majority of time will be dedicated to free communications and general discussion to share experience
and knowledge between participants.
It is our aim to produce a summary of recommendations of each session a short time after the meeting.
LEARNING OBJECTIVES
1. to gain further knowledge of the clinical presentations, investigations required for diagnosis, and the management of genetic disorders affecting the liver
2. to gain a more detailed understanding of the outcome of these disorders and the efficacy of various
treatment options
3. to discuss the most recent developments within this field
3.2. Programme
Thursday 29th March
Workshop: Transplantation 1. Long-term medical
treatment vs. organ transplantation (orthotopic vs.
auxillary, living donor, domino) in Intoxication type
Metabolic Disorders (PA, MMA, MSUD, UCDs)
Co-chairs
John Walter – Patricia McLean – Jean De Ville de
Goyet
08.30 – 08.45 John Walter, Manchester
Limitations of conventional treatment (UCDs – PA –
MMA – MSUD)
08.45 – 09.00 Patricia McClean, Leeds
Assessment of the procedures for transplant list
definition (extra-PELD criteria) & assessment of
outcome measures at follow-up (clinical &
biochemical)
09.00 – 09.15 Jean De Ville de Goyet, Rome
Surgical options & timing
09.15 – 11.00 Free communication and general
discussion
Participants’ case presentations & discussions (max
15min per case)
Ferreira, Lapatto, Hadzic
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11.00 - 11.30 Coffee
Workshop: Transplantation 2. Cell therapy
Co-chairs
Hartmut Schmidt – Martin Lindner – Alberto
Burlina
11.30 – 11.45 Hartmut Schmidt, Munster
Cell therapy in liver failure
11.45 – 12.15 Martin Lindner, Heidelberg &
Alberto Burlina, Padova
Cell therapy in liver based IEMs
12.15 – 12.45 Free communication and general
discussion (35’)
Participants’ case presentations & discussions (max
15min per case)
Usurelu, Vara
12.45 - 14.00 Lunch
Workshop: Acute liver failure
Co-chairs
Patrick Mc Kiernan – Guiliano Torre
14.00 – 14.15 Patrick Mc Kiernan, Birmingham
Differential diagnosis
14.15 – 14.30 Guiliano Torre, Rome
Supportive tretament
14.30 – 16.00 Free communication and general
discussion
Participants’ case presentations & discussions (max
15min per case)
El Karaksy
16.00 – 16.30 Coffee
Workshop: Tyrosinemia type 1
Co-chairs
Francjan van Spronsen – Carlo Dionisi-Vici
16.30 – 16.45 Francjan Van Spronsen, Groningen
The need for dietary therapy & the long-term
outcome
16.45 – 17.00 Carlo Dionisi-Vici, Rome
Biochemical monitoring & neonatal screening
17.00 – 18.00 Free communication and general
discussion
Participants’ case presentations & discussions (max
15min per case)
EL Abidi Hana, El Karaksi, Moarefian, Polyakova
Friday 30th March
Workshop: Emerging diseases
Co-chairs
John Walter – Vassili Valayannopulos – Giuseppe
Fiermonte
08.30 – 08.45 John Walter (Manchester),
Giuseppe. Fiermonte (Bari)
Infantile Citrin deficiency
08.45 – 09.00 Vassili Valayannopulos, Paris
Transaldolase deficiency
09.00 – 10.30 Free communication and general
discussion
Participants’ case presentations & discussions (max
15min per case)
O’Sullivan, Baruteau
10.30 – 11.00 Coffee
Workshop: Cholestatic liver diseases
Co-chairs
Peter Clayton – Mario Strazzabosco
11.00 – 11.15 Peter Clayton, London
Bile acid & related disorders
11.15 – 11.30 Mario Strazzabosco (Milan – New
Haven)
PFIC
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11.30 – 12.45 Free communication and general
discussion
Participants’ case presentations & discussions (max
15min per case)
Footitt, Kostovski, Malla, Régal, Witters
12.45 – 14.00 Lunch
Workshop: Metal disorders
Co-chairs
Piotr Socha – Roderick Houwen
14.00 – 14.15 Piotr Socha,
Warsaw
Copper and iron overload
14.15 – 14.30 Roderick Houwen,
Utrecht
Copper related problems biochemical & molecular
diagnosis
14.30 – 16.00 Free communication and general
discussion
Karin Tuschl: 10min presentation
Participants’ case presentations & discussions (max
15min per case)
Malla, Martinelli, Polyakova, Sacara (x2)
Workshop: Structural changes & malignancies in
metabolic liver diseases
Co-chairs
David Cassiman – Valeri Nobili
16.00 – 16.15 David Cassiman, Leuven
Liver malignancies in metabolic disorders
16.15 – 16.30 Valeri Nobili, Rome
Mechanism of liver fibrosis in IEM
16.30 – 17.30 Free communication and general
discussion
Participants’ case presentations & discussions (max
15min per case)
Chew, Ngu, Polyakova, Rahman
3.3. Participants and speakers
Emna Barkaoui Children hospital Researcher in liver metabolic diseases in Pasteur Institute Tunis, Tunisia [email protected] Julien Baruteau Children's Hospital Hepatology and metabolic diseases 330 Avenue de Grande Bretagne 31059 Toulouse, France [email protected] Hui Bein Chew University of Malaya Department of Paediatrics University of Malaya 59100 Kuala Lumpur, Malaysia
[email protected] Fabiola Di Dato Policlinico Federico II Department of Pediatrics Vi Pansini 5 80131 Napoli, Italy [email protected] Hanaa El Abidi EL-Fateh University Faculty of medicine peadiatrics, Alkhadra hospital 278 Tripoli, Libyan Arab Jamahiriya [email protected] Hanaa El-Karaksy Cairo University Pediatrics 44 Mohei El-Deen Abu El-Ezz Street, Dokki
20
12311 Cairo, Egypt [email protected] Ana Cristina Ferreira Dona Estefânia's Hospital Metabolic Unit Rua Jacinta Marto 1169 Lisbon, Portugal [email protected] [email protected] Emma Footitt Institute of Child Health Clinical and Molecular Genetics 30 Guilford Street WC1N 1EH London, United Kingdom [email protected] Nedim Hadzic King's College Hospital Paediatric Liver Service Denmark Hill SE5 9RS London, United Kingdom [email protected] Elisabeth Jameson St Mary's Hospital, University of Manchester Willink Biochemical Genetics Unit, Genetic Medicine Oxford Road M13 9WL Manchester, United Kingdom [email protected] Aco Kostovski University Children's Hospital Pediatric gastroenterohepatology Vodnjanska 17 1000 Skopje, Macedonia [email protected] Risto Lapatto Children's hospital, University of Helsinki Paediatrics Stenbackinkatu 11 29 Helsinki, Finland [email protected] Ivonne Malla Hospital Universitario Austral Paediatric Hepatology and Paediatric Liver Transpl Juan Domingo Perón No 1500 1629 Derqui, Argentina [email protected]
Diego Martinelli Bambino Gesù Children's Hospital Unit of Metabolism Piazza Sant'Onofrio,4 168 Rome, Italy [email protected] Shirin Moarefian Iranian National Society for study of metabolic di Dr.Talieh Zaman private clinic No.32,4th Tohid,Shahrake Ghods 1955656341 Tehran, Iran, Islamic Republic Of [email protected] Lock-Hock Ngu Kuala Lumpur Hospital Genetics Jalan Pahang 50586 Kuala Lumpur, Malaysia [email protected] Siobhan O'Sullivan Great Ormond Street Hospital Metabolic Medicine Great Ormond Street WC1N 3JH London, United Kingdom [email protected] Svetlana Polyakova Scientific Center of children health gastroenterology and hepatology Lomonosovsky prosp. 119991 Moscow, Russian Federation [email protected] Maria Giovanna Puoti Policlinico Federico II Department of Pediatrics Via Pansini 5 80131 Naples, Italy [email protected] Yusof Rahman Evelina Children's Hospital Centre for Inherited Metabolic Disorders Guy's & St Thomas' Hospitals SE1 7EH, London, United Kingdom [email protected] Giusy Ranucci Policlinico Federico II Department of Pediatrics
21
Via Pansini n°5 80131 Naples, Italy [email protected] Luc Regal University Hospital Leuven Pediatric Metabolic Disorders Herestraat 49 3000 Leuven, Belgium [email protected] Victoria Sacara National Centre of Reproductive Health and Medical Genetics Human Molecular Genetics Burebista str. 82 2062 Chisinau, Moldova, Republic Of [email protected] Peymaneh Sarkhail Sarem hospital Genetic and metabolic phase 3, shahrak Ekbatan 13969 Tehran, Iran, Islamic Republic Of [email protected] Anastasia Skouma Aghia Sophia Children's Hospital,Metabolic Lab,Cho Metabolic lab Thivon&Levadias 11527 Athens, Greece
[email protected] Natalia Usurelu National Centre of Reproductive Health and Medical Genetics The Hereditary Pathologies Profilaxy 82, Burebista str MD2062 Chisinau, Moldova, Republic Of [email protected] Roshni Vara Evelina Children's Hospital Centre for Inherited Metabolic Disease St Thomas' Hospital, Westminster Bridge Road SE1 7EH London, United Kingdom [email protected] Carla Venturi Cliniques universitaires Saint-Luc Pediatric Surgery and Transplantation Unit av Hippocrate 10 1200 Brussels, Belgium [email protected] Peter Witters KULeuven, University Hospitals Gasthuisberg Paediatrics Herestraat, 49 B3000 Leuven, Belgium [email protected]
3.4. Evaluation report
Overall rating
Participants were asked answer the question using a 5 point scale (1=poor, 5=excellent)
22
Excellent60%
Very good37%
Good3%
Answers
Diagram 1: the overall rating of the course was excellent
Medical degree course
Diagram 2: Delegates by specialty
Paediatrics54%
Adult hepatology
3%
Hepatic surgery
3%
Metabolics27%
Paediatric hepatology
13%
Medical degree course
37.5% 62.5%
23
Rating of each presentation (1=poor
5=excellent)
24
0% 20% 40% 60% 80% 100%
Tyrosinemia type 1
The need for dietary therapy & the long-term outcome
Content
Presentation
Biochemical monitoring & neonatal screening
Content
Presentation
Participants’ case presentations
Content
Presentation
Emerging diseases
Infantile Citrin deficiency
Content
Presentation
Transaldolase deficiency
Content
Presentation
Participants’ case presentations
Content
Presentation
Cholestatic liver diseases
Bile acid & related disorders
Content
Presentation
PFIC
Content
Presentation
Participants’ case presentations
Content
Presentation
1 2 3 4 5
25
(1=poor 5=excellent)
0% 50% 100%
Metal disorders
Copper and iron overload
Content
Presentation
Copper related problems biochemical & molecular diagnosis
Content
Presentation
Participants’ case presentations
Content
Presentation
Structural changes & malignancies in metabolic liver diseases
Liver malignancies in metabolic disorders
Content
Presentation
Participants’ case presentations
Content
Presentation
1 2 3 4 5
26
Helpfulness of the course
Participants were asked if the course was helpful in assisting them to manage every day work and if it was
efficient in encouraging them to continue further training:
0
5
10
15
20
25
1 (poor) 2 3 4 5 (excellent)
nb
of
an
swe
rs Helpfulness of the course inassisting you to manage everydaywork
Effectiveness of the course inencouraging you to continuefurther training
Length of the course
24 individuals found the length of the course just right whilst 6 found it too short and 1 too long.
Course met expectations
Out of the 31 evaluation forms, 30 persons replied favourably to the question: “did the course meet their
expectations?” and 1 person did not answer.
Improvements for the next course
39% of the participants replied they would not change anything if the course is organised again in the future
while
42 % suggested more practical work; 10% would like more theory.
Diagram 4
27
0
5
10
15
Nothing More theory More practical work Higher level Lower level
Nu
mb
er o
f re
pli
es
4. Inherited metabolic diseases for the internist, Amsterdam, 6 -8
June 2012
4.1. Course description
An increasing number of patients with inborn errors of metabolism are now being seen as adults, either
because, with improved paediatric management, they have survived childhood and adolescence, or because it
is increasingly recognised that these conditions can present in adulthood. IEMs can lead to neurological,
cardiac, renal, haematological or skeletal problems that may bring these patients to the attention of the
internist. Many of these patients suffer from delays in diagnosis and, even when the diagnosis is already
known, in instituting appropriate treatment. This course is designed to give an overview of the clinical
features, diagnosis and treatment of adults with IEMs in order to improve their recognition and management
in the internal medical setting.
The course is run by experienced metabolic physicians. There will be 20 speakers, including physicians,
paediatricians and biochemists and a maximum of 50 participants. The course is aimed at internists with an
interest in inborn errors of metabolism, but not necessary with extensive clinical experience. General
overviews of when to suspect an inborn error of metabolism in adults and management of relatively frequent
disorders are covered. In addition, laboratory workshops and clinical workshops are provided, as well as many
clinical case discussions throughout the program.
LEARNING OBJECTIVES
to understand the spectrum of inborn errors of metabolism in adults,
to improve awareness and become up-to-date with diagnostic and treatment strategies. When applying to
the course, participants are strongly encouraged to submit a case study from their own experience.-
4.2. Programme
28
WEDNESDAY 6 JUNE 2012
INTRODUCTION TO INBORN ERRORS OF METABOLISM IN ADULTS
09:00 Inborn errors of metabolism in
adults: the disease spectrum
Robin Lachmann (London)
09:45 Transition, psychological support and
multidisciplinary approach
Frits Wijburg (Amsterdam)
10:30 Case discussion : Grainne Connolly,
Belfast
10:45 Break
11:00 Basic principles in the support of the
patient with:
11:00 PKU - Francois Maillot (Tours)
11:40 Glycogen Storage Disorders - Peter Smit
(Gröningen)
12:20 Lysosomal Storage Disorders - Carla Hollak
(Amsterdam)
13:00 Case discussion : Martijn Brouwers,
Maastricht
13:30 Lunch
14:30 Laboratory workshops : 3 x 60 min
with break
A. Hyperammonemia : Daniel Rabier (Paris)
B. Amino acids / Organic acids : Ries Duran
(Amsterdam)
C. Acylcarnitines : Simon Olpin (Sheffield)
18:00 End of day
THURSDAY 7 JUNE 2012
VENUE : ACADEMIC MEDICAL CENTRE
MANAGEMENT OF KNOWN DISORDERS
09:00 Homocystinuria and MMA
Mirian Janssen (Nijmegen)
09:30 Urea cycle disorders
Johannes Häberle (Zurich)
10:00 Case discussion : Pasi Nevalainen,
Tampere
10:30 Break
11:00 Galactosemia and hereditary
fructose intolerance
Annet Bosch (Amsterdam)
11:30 Porphyria
Janneke Langendonk (Rotterdam)
12:00 Case discussion : Greta Moorkens,
Edegem
12:30 Lunch
13:30 Clinical workshops 3 x 60 min with
break
A. Myopathy and muscle pain : Pascal Laforet (Paris)
and Mirian Jansen (Nijmegen),
B. Encephalopathy : Frederic Sedel (Paris) and Robin
Lachmann (London)
C. Haematology and inflammation : Janneke
Langendonk (Rotterdam) and Carla Hollak
(Amsterdam)
18:00 End of day
18:30 Dinner in Amsterdam
FRIDAY 8 JUNE 2012
MULTISYSTEM DISEASE
08:30 Pregnancy and Fertility
Elaine Murphy (London)
09:00 Case Discussion
29
09:30 Eyes
Andrew Webster (London)
10:00 case Discussion : Robin Lachmann,
London
10:30 Break
10:45 Cardiomyopathy
Perry Elliott (London)
11:15 Case Discussion : Carla Hollak,
Amsterdam
11:30 Liver Disease
Stephan vom Dahl (Köln)
12:00 Case Discussion : Alexander
Rennings, Nijmegen
12:30 Skeletal disease
Ekkehart Lausch (Freiburg)
13:00 Case Discussion : Gabor Linthorst,
Amsterdam
13:30 Conclusions
Carla Hollak, Robin Lachman, Frederic Sedel,
Samantha Parker
4.3. Participants and speakers
Gonnie Alkemade
UMCG
Endocrinologie
Ruitersteeg 12
9752 VB Haren
Netherlands
Marieke Biegstraaten
Academic Medical Center
Internal Medicine, F5-169
Meibergdreef 9
1105 AZ Amsterdam
Netherlands
Marieke Bokhoven
University College London
Medicine
Paul O'Gorman Building, Huntley Street
WC1E 6DD London
United Kingdom
Martijn Brouwers
Maastricht University Medical Center
Endocrinology
Debyelaan 25
6229 HX Maastricht
Netherlands
Teresa Cardoso
Hospital de S. João
Internal Medicine
Alameda Prof. Hernâni Monteiro
4200 – 319 Porto
Portugal
Grainne Connolly
Belfast Trust
Clinical Biochemistry
57
BT9 5GT Belfast
United Kingdom
Arlindo Guimas
Hospital Santo Antonio
Internal Medicine
Largo Abel Salazar
4099-001 Oporto
30
Portugal
Onno Holleboom
Academic Medical Center, Amsterdam
Internal Medicine
Meibergdreef 9
1105 AZ Amsterdam
Netherlands
Francois Karstens
Erasmuc MC
Internal Medicine
's Gravendijkwal 230
3000CA Rotterdam
Netherlands
Vanessa Leguy-Seguin
CHU Le Bocage
Internal Medicine
5-7, rue du Pr Marion
21079 Dijon cedex
France
Gabor Linthorst
Academic Medical Center
Internal Medicine, endocrinology and metabolism
Meibergdreef 9
1105 AZ Amsterdam
Netherlands
Greta Moorkens
Antwerp University hospital
General internal medicine
Wilrijkstraat 10
2650 Edegem
Belgium
Pasi Nevalainen
Tampere University Hospital
Internal Medicine
Teiskontie 35
33521 Tampere
Finland
Mirjam Oosterwerff
Vu Medical Center
Endocrinology
de Boelelaan 1117
1081 HV Amsterdam
Netherlands
Jordi Pérez López
Vall d'Hebron Hospital
Internal Medicine
Passeig Vall d'Hebron, 119-129
8035 Barcelona
Spain
Alexander Rennings
Radboud University Nijmegen
Internal Medicine
Geert Grooteplein Zuid 8
6525 EZ Nijmegen
Netherlands
Rosa Ribeiro
Hospital de santo antónio
internal medicine
Travessa do paço 66
4405 Vila nosa de gaia
Portugal
Sara Isabel Rocha
Hospital de Santo António - Centro Hospitalar do P
Internal Medicine
Rua das Andorinhas
4435-488 Rio Tinto
Portugal
Fereshteh Saeed Tehrani
31
Medical Center for Children Hospital
Metabolic Ward
Aghdacieh st,Sepand st,Maryam alley,No 6
1956734611 Tehran
Iran, Islamic Republic Of
Boyd Strauss
Monash University
Department of Medicine, Southern Clinical School
24 Allenby Avenue
3145 Malvern East, Victoria
Australia
Marielle vd Heiden-Schroijen
LUMC
Endocrinology
Archimedesstraat 66
2517 RX The Hague
Netherlands
Gisela Wilcox
Monash University
Department of Medicine, Southern Clinical School
24 Allenby Avenue
3145 Malvern East, Victoria
Australia
SPEAKERS
Annet Bosch
Amsterdam Medical Center
Dept. of Pediatrics
Meibergdreef 9
1105 AZ Amsterdam
Netherlands
Ries Duran
Amsterdam Medical Center
Clinical biochemical geneticist, Lab. Genetic
Metabolic Diseases, FO-221
Meibergdreef 9
1105 AZ Amsterdam
Netherlands
Perry Elliot
The Heart Hospital
16-18 Westmoreland Street
W1G 8PH London
United Kingdom
Johannes Häberle
University Children's Hospital
Division of Metabolism
Steinwiesstrasse 75
8032 Zürich
Switzerland
Carla Hollak
Academic Medical Center
Division of Endocrinology and Metabolism, F5-170
PO box 22660
1100 DD Amsterdam
Netherlands
Mirian Janssen
Radboud University Nijmegen Medical Centre
Department of General Internal Medicine;
Huispostnr 463
Box 9101
6500 HB Nijmegen
Netherlands
Robin Lachmann
National Hospital for Neurology & Neurosurgery
Charles Dent Metabolic Unit
Queen Square
WC1N 3BG London
United Kingdom
Pascal Laforêt
CHU Hôpital Pitié-Salpêtrière
Institut de myologie
47-83 Boulevard de l'Hôpital
75651 Paris Cedex 13
France
32
Janneke Langendonk
Erasmus Medical Center
Office D-416
PO box 2040
3000 CA Rotterdam
Netherlands
Ekkehart Lausch
Universitaetsklinikum Freiburg
Sektion Pädiatrische Genetik
Mathildenstraße 1
79106 Freiburg
Germany
Francois Maillot
CHRU de Tours, Hôpital Bretonneau
Service de médecine interne et nutrition
2 boulevard Tonnellé
37044 Tours Cedex 9
France
Elaine Murphy
National Hospital for Neurology and Neurosurgery
Charles Dent Metabolic Unit
Queen Square
WC1N 3BG London
United Kingdom
33
Simon Olpin
Sheffield Children's Hospital
Department of Clinical Chemistry, Western Bank
Western Bank
S10 2TH Sheffield
United Kingdom
Daniel Rabier
Necker-Enfants Malades Hospital
Laboratoire de biochimie
149, rue de Sèvres
75743 Paris Cedex 15
France
Frédéric Sedel
Pitié-Salpêtrière Hospital
Federation of nervous system diseases
47 boulevard de l'Hôpital
75651 Paris Cedex 13
France
Peter Smit
Beatrix Children's Hospital
Dept of Metabolic Diseases
P O Box 30.001
9700 RB Groningen
Netherlands
Stephan vom Dahl
St. Franziskus-Hospital
Innere Medizin/Gastroenterologie
Schönsteinstrasse 63
50825 Köln
Germany
Andrew Webster
Moorfields Eye Hospital
London, EC1V 2PD
United Kingdom
Frits Wijburg
Academic Medical Centre
Department of Paediatrics
Meidergdreef 9
1105 DE Amsterdam
Netherlands
4.4. End of course evaluation
Overall rating
Participants were asked answer the question using a 5 point scale (1=poor, 5=excellent)
34
Excellent60%
Very good37%
Good3%
Answers
Diagram 1: the overall rating of the course was excellent
Medical degree course
Diagram 2: Delegates by specialty
Paediatrics54%
Adult hepatology
3%
Hepatic surgery
3%
Metabolics27%
Paediatric hepatology
13%
Medical degree course
37.5% 62.5%
35
rating of each presentation (1=POOR
5=EXCELLENT)
36
0% 20% 40% 60% 80% 100%
Tyrosinemia type 1
The need for dietary therapy & the long-term outcome
Content
Presentation
Biochemical monitoring & neonatal screening
Content
Presentation
Participants’ case presentations
Content
Presentation
Emerging diseases
Infantile Citrin deficiency
Content
Presentation
Transaldolase deficiency
Content
Presentation
Participants’ case presentations
Content
Presentation
Cholestatic liver diseases
Bile acid & related disorders
Content
Presentation
PFIC
Content
Presentation
Participants’ case presentations
Content
Presentation
1 2 3 4 5
37
(1=poor 5=excellent)
0% 50% 100%
Metal disorders
Copper and iron overload
Content
Presentation
Copper related problems biochemical & molecular diagnosis
Content
Presentation
Participants’ case presentations
Content
Presentation
Structural changes & malignancies in metabolic liver diseases
Liver malignancies in metabolic disorders
Content
Presentation
Participants’ case presentations
Content
Presentation
1 2 3 4 5
38
Helpfulness of the course
Participants were asked if the course was helpful in assisting them to manage every day work and if it was efficient
in encouraging them to continue further training:
Length of the course
24 individuals found the length of the course just right whilst 6 found it too short and 1 too long.
Course met expectations
Out of the 31 evaluation forms, 30 persons replied favourably to the question: “did the course meet their
expectations?” and 1 person did not answer.
Improvements for the next course
39% of the participants replied they would not change anything if the course is organised again in the future while
42 % suggested more practical work; 10% would like more theory.
Diagram 4
39
5. European inborn errors of metabolism general course, Warsaw,
Poland 25-29 September 2012
5.1. Course description
Inborn Errors of metabolism are the 2nd most common category of rare disorders. In order to provide optimal
care for patients, it is essential that health professionals involved in the diagnosis and management of
inherited metabolic disease have a thorough understanding of these conditions. The purpose of this course is
to ensure an appropriate level of knowledge for those training in this area of medicine.
This course is designed primarily for paediatricians, physicians, and laboratory scientists wishing to increase
their knowledge in the area of inborn errors of metabolism (IEM), but is also suitable for specialist dietitians
and nurses. The broad spectrum of inborn metabolic diseases affecting the metabolism of carbohydrates and
glycoproteins, amino, organic and nucleic acids, neurotransmitters, mitochondrial, lysosomal, peroxisomal and
endoplasmic reticulum/Golgi disorders, will be covered by local and international experts.
The programme will be broken down into plenary lectures and smaller groups for the ‘meet the clinical expert
sessions’ and workshops.
The course will be interactive and participants are asked to submit a short case study to illustrate a particular
diagnostic or clinical management problem.
LEARNING OBJECTIVES
To have a basic understanding of human biochemistry and the adverse effects caused by genetic
disorders affecting key metabolic pathways.
To be aware of the different clinical presentations that occur in IEMs
To appreciate the different analytical techniques used in the diagnosis of inborn errors of metabolism
and to know which investigations should be used in order to reach a correct diagnosis
To know which disorders are amenable to treatment and consequently require immediate
consideration.
To know the principals and practicalities of the emergency management of IEM.
To appreciate and understand the long term management of IEMs including the dietary management
of patients with amino acids and carbohydrate metabolism disorders, organic acidurias, urea cycle
defects and fatty acid oxidation defects.
5.2. Programme
TUESDAY 25 SEPTEMBER 2012 14:00 Welcome and introduction
Jolanta Sykut-Cegielska (Warsaw)
40
14:15 Introduction to inborn errors of
metabolism – an overview
Andrew Morris (Manchester)
15:00 Discussion
15:15 Laboratory diagnosis of inborn errors of
metabolism
Ries Duran (Amsterdam)
16:00 Discussion
16:15 Coffee break
16:45 Human genetic diagnostics: general
introduction
Krystyna Chrzanowska (Warsaw)
17:30 Discussion
17:45 Newborn screening as a diagnostic tool for
inborn errors of metabolism
Gepke Visser (Utrecht)
18:30 Discussion
WEDNESDAY 26 SEPTEMBER 2012
08:30 Aminoacidopathies
Stephanie Grünewald (London)
09:15 Case presentation (Aminoacidopathies)
09:30 Discussion
09:45 Urea cycle disorders
Dariusz Rokicki (Warsaw)
10:30 Case presentation (Urea Cycle Disorder)
10:45 Discussion
11:00 Coffee break
11:30 Organic acidurias
Stephanie Grünewald (London)
12:15 Case presentation (Alejandra Acosta, Costa
Rica)
12:30 Discussion
12:45 Meet the clinical experts: Problem-
oriented learning (1 hour)
Eva Morava (Nijmegen), Jolanta Sykut-Cegielska
(Warsaw), Andrew Morris (Manchester)
13:45 Lunch
15:15 Working group sessions
16:45 20 min coffee break
A. Dietary management in IEMS : Margaretha Van
Rijn (Groningen), Agnieszka Kowalik (Warsaw);
B. Neurotransmitters : Alberto Burlina (Padua),
Katharzyna Kusmierska (Warsaw);
C. Organic acid analysis : Ries Duran (Amsterdam),
Wanda Gradowska (Warsaw)
18:30 Free evening for participants
Speakers’ dinner
THURSDAY 27 SEPTEMBER 2012
08:30 Mitochondrial diseases
Jan Smeitink (Nijmegen)
09:15 Case presentations (Barbara Perkowska-
Sumila & Paulina Pokora, Poland)
09:45 Discussion
10:00 Coffee break
10:30 Lysosomal storage diseases
Carla Hollak (Amsterdam)
11:15 Case presentation (Vasilica Plaiasu,
Romania)
11:45 Discussion
12:00 Lunch
13:30 Meet the clinical experts: Problem-
oriented learning (1 hour)
Eva Morava (Nijmegen), Jolanta Sykut-Cegielska
(Warsaw), Andrew Morris (Manchester)
14:35 Working group sessions
16:00 20 min coffee break
A. Dietary management : Margaretha Van Rijn
(Groningen), Agnieszka Kowalik (Warsaw);
B. Neurotransmitters : Albert Burlina (Padua),
Katharzyna Kusmierska (Warsaw);
41
C. Organic acid analysis : Ries Duran (Amsterdam),
Wanda Gradowska (Warsaw)
FRIDAY 28 SEPTEMBER 2012
08:30 Congenital disorders of glycosylation
Eva Morava (Nijmegen)
09:15 Case presentation (Raed Selmi, Italy)
09:30 Discussion
09:45 Emergency treatment of IEM
Stefan Kölker (Heidelberg)
10:30 Discussion
10:45 Coffee break
11:15 Neurotransmitters, BH4 disorders
Alberto Burlina (Padua)
12:00 Case presentation (Sabine Verbeek,
Belgium)
12:15 Discussion
12:45 Lunch
14:15 Meet the clinical experts: Problem-
oriented learning (1 hour)
Eva Morava (Nijmegen), Jolanta Sykut-Cegielska
(Warsaw), Andrew Morris (Manchester)
15:20 Working group sessions
16:45 20 min coffee break
A. Dietary management : Margaretha Van Rijn
(Groningen), Agnieszka Kowalik (Warsaw);
B. Neurotransmitters : Alberto Burlina (Padua),
Katharzyna Kusmierska (Warsaw);
C. Organic acid analysis : Ries Duran (Amsterdam),
Wanda Gradowska (Warsaw)
SATURDAY 29 SEPTEMBER 2012
08:30 Glycogen Storage diseases
Stuart Tanner (Sheffield)
09:15 Discussion
09:30 Fatty acid oxidation disorders
Jolanta Sykut-Cegielska (Warsaw)
10:00 Case presentation (Iwona Ostrowska,
Poland)
10:15 Discussion
10:30 Coffee break
11:00 End of course Quiz
11:30 Discussion
11:50 Closing remarks
Jolanta Sykut-Cegielska, Samantha Parker
42
5.3. Participants and
speakers
LIST OF PARTICIPANTS
Alejandra Acosta
Hospital Nacional de Niños
Pediatrician
Paseo Colon, San Jose
2157-2050 San Pedro
7786-100 San Jose
Costa Rica
Katrin Adrian
Queen Silvias Childrens Hospital
Pediatric medicine
Smorslottsgatan
41685 Göteborg
Sweden
Amal Aljishi
Ministry of health
pediatric
hassan bin thabit
1367
31911 Qatif
Saudi Arabia
Salwa Alkhalifi
MCH Dammam
Medical Genetics
Bin Jelwy
31443 Dammam
Saudi Arabia
Huda Al-Khawaja
MCH
Pediatrics
Hassa
2886
913182 Hassa
Saudi Arabia
Dana Teodora Anton
University of Medicine and Pharmacy "Gr.T.Popa"
3-rd Clinic of Pediatrics
Cozma Toma 111, bl.568, sc.A,ap.2
700552 Iasi
Romania
Siddharth Banka
St. Mary's Hospital
Genetic Medicine (Willink Biochemical Unit)
Oxford Road
M13 9WL Manchester
United Kingdom
Spyros Batzios
Aristotle University of Thessaloniki
1st Department of Paediatrics
49 Konstantinoupoleos str
54642 Thessaloniki
Greece
Karmen Bilic
Clinical Hospital Centre Zagreb
Laboratory diagnostics
Kia Paticeva 12
10000 Zagreb
Croatia
Grainne Connolly
Belfast Trust
Clinical Biochemistry
57
BT9 5GT Belfast
United Kingdom
Claudia Sofia Dias da Costa
Centro Hospitalar Lisboa Norte E.P.E. Portugal
Inborn Errors of Metabolism, Pediatric Department
Rua da Resistencia nº13
Vale de Milhaços
2855-431 Corroios
Portugal
43
Hana EL Abidi
Tripoli university Faculty of Medicine
peadiatrics, Alkhadra hospital
278 Tripoli
Libyan Arab Jamahiriya
Javier Gomez
Norfolk and Norwich University Hospitals
Clinical Biochemistry
Colney Lane
NR4 7UY Norwich
United Kingdom
Anil Jalan
NIRMAN
Biochemical genetics
C-116, Om Rachana Society, Sector 17, Vashi
400705 Navi Mumbia
India
Dagmar Jamiolkowski
Center for Child and Adolescent Medicine Heidelber
Metabolism Center
Im Neuenheimer Feld 430
69120 Heidelberg
Germany
Saskia Koene
Radboud University Nijmegen - Medical Centre
Nijmegen Centre for Mitochondrial Disorders;
Paediatrics
Marialaan 316
6541RRNijmegen
Netherlands
Maha Mansour
Cairo Univesity/Egypt-JCH/KSA
Pediatrics/IEM clinic
Old airport street
115
21411 Jeddah
Saudi Arabia
Susana Monroy-Santoyo
National Institute of Pediatrics
Inborn Errors of Metabolism and screening
Av. Iman #1 9th floor
4530 Mexico City
Mexico
Iwona Ostrowska
Developmental Age Autonomous Public Clinical Hospital
No1 of Pomeranian Medical University in Szczecin
Clinic of Pediatrics, Endocrinology, Diabetology,
Metabolic Diseases and Cardiology
Unii Lubelskiej str. 1
71-252 Szczecin
Poland
Natalia Pechatnikova
Russian State Medical University
Medical Genetics
Poslannikov pereulok 11/14
105005 Moscow
Russia
Barbara Perkowska-Sumila
The Children's Memorial Health Institute
Dept of Metabolic Diseases
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Vasilica Plaiasu
IOMC Alfred Rusescu
Clinical Genetics
Bd.Lacul Tei nr.120
20395 Bucharest
Romania
Paulina Pokora
The Children's Memorial Health Institute
Dept of Metabolic Diseases
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
44
Silvija Puseljic
Clinical Hospital Center Osijek
Genetic and metabolism
J. Huttlera 4
31000 Osijek
Croatia
Isaque Qureshi
nottingham's children's hospital
Family health
QMC campus, Derby road
NG7 2UH Nottingham
United Kingdom
Rúben Ramos
Faculty of Pharmacy University of Lisbon
Metabolism and Genetics
Av. Prof. Gama Pinto
1649-003 Lisboa
Portugal
Fereshteh Saeed Tehrani
Medical Center for Children Hospital
Metabolic Ward
Aghdacieh st,Sepand st,Maryam alley,No 6
1956734611 Tehran
Iran, Islamic Republic Of
Andrea Simona Scrobote
Institute for Mother and Child Care "Alfred Rusesc
Pediatrics
Postavarul, No 3C, app 48
app. 48
32426 Bucharest
Romania
Raed Selmi
San Paolo Hospital
Pediatrics - inborn errors of metabolism
Via A Di Rudini,8
20093 Milan
Italy
Man Ting Soo
Kwong Wah Hospital
Paediatrics
25 Waterloo Road, Yaumatei
Kowloon
Hong Kong
Christian Maximilian Staufner
Paediatric Hospital Heidelberg, University Clinic
Division of Inborn Errors of Metabolism
Im Neuenheimer Feld 430
69120 Heidelberg
Germany
Natalia Usurelu
National Centre of Reproductive Health and Medical
Genetics
The Hereditary Pathologies Profilaxy
82, Burebista str
P.O.Box 2309
MD2062 Chisinau
Sabine Verbeek
UZ Gent
Pediatrics
Ajuinlei 14f
9000 Ghent
Belgium
Isidro Vitoria
Hospital La Fe
Unit of Metabolopathies
Bulevar sur s/n
46026 Valencia
Spain
LIST OF SPEAKERS
Alberto Burlina
University Hospital
Division of Metabolic Disorders
Via Giustiniani, 3
35128 Padova
45
Italy
Krystyna Chrzanowska
The Children's Memorial health Institute
Department of Medical Genetics
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Ries Duran
Amsterdam Medical Center
Clinical biochemical geneticist, Lab. Genetic Metabolic
Diseases, FO-221
Meibergdreef 9
1105 AZ Amsterdam
Netherlands
Wanda Gradowska
The Children's Memorial health Institute
Department of Biochemistry and Experimental Medicine
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Stephanie Grünewald
Great Ormond Street Hospital
Metabolic medicine
Great Ormond Street
WC1N 3JH London
United Kingdom
Carla Hollak
Academic Medical Center
Division of Endocrinology and Metabolism, F5-170
PO box 22660
1100 DD Amsterdam
Netherlands
Stefan Kölker
Zentrum für Kinder- und Jugendmedizin Angelika-
Lautenschläger-Klinik
Dept of General Pediatrics
Im Neuenheimer Feld 430
69120 Heidelberg
Germany
Agnieszka Kowalik
The Children's Memorial health Institute
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Katharzyna Kusmierska
The Children's Memorial health Institute
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Eva Morava
Universitair Medisch Centrum St Radboud
833 Dept. Of Metabolic diseases
PO Box 9101
6500 HB Nijmegen
Netherlands
Andrew Morris
Manchester Academic Health Sciences Centre,
Central Manchester University Hospitals NHS
Foundation Trust
Willink Biochemical Genetics Unit, Genetic Medicine
6th Floor, St Mary’s Hospital
Oxford Road
M13 9WL Manchester
United Kingdom
Dariusz Rokicki
The Children's Memorial Health Institute
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Jan Smetink
Universitair Medisch Centrum St Radboud
Institue for Genetic and Metabolic Disease
PO Box 9101
6500 HB Nijmegen
Netherlands
46
Jolanta Sykut-Cegielska
The Children's Memorial Health Institute
Dept of Metabolic Diseases
Al. Dzieci Polskich 20
04-730 Warsaw
Poland
Stuart Tanner
University of Sheffield at The Children's Hospital
Institute of Child Health
Western Bank
S10 2TH Sheffield
United Kingdom
Margarete van Rijn
Beatrix Children's Hospital, University Medical Center
Groningen
Section of Metabolic Diseases
P O Box 30.001
9700 RB Groningen
Netherlands
Gepke Visser
Wilhelmina Children's Hospital
Department of peditaric gastroenterology and
metabolic disorders
KC 03.063.0 UMCU
3584 EA Utrecht
Netherlands
5.4. Results of the course evaluation
Overall rating
Participants were asked to answer the question using a 5 point scale (1=poor, 5=excellent)
Excellent58%
Very good30%
Good3%
Answers
Diagram 1: the overall rating of the course was excellent
37.5% 62.5%
47
Medical degree course
Diagram 2: Delegates by specialty
Medical degree course
Metabolics
Paediatrics
Clinical chemistry
Clinical pathology
Clinical genetics
48
Rating of each presentation (1=poor , 5=excellent)
49
50
Helpfulness of the course
Participants were asked if the course was helpful in assisting them to manage every day work and if it was efficient in
encouraging them to continue further training:
Length of the course
29 individuals found the length of the course just right whilst 1 found it too short and 2 too long; 1 person did not reply
to the question.
Course met expectations
Out of the 33 evaluation forms, 29 persons replied favourably to the question: “did the course meet their
expectations?”; 2 persons answered yes and no and 1 person replied that it did not meet his/her expectations.
Improvements for the next course
29% of the participants replied they would not change anything if the course is organised again in the future while 39 %
suggested more practical work; 32% would like more theory, 13% feel the need to have a course with a lower level and
10% would appreciate a higher level.
Diagram 4
51
OPINION ON THE ORGANISATION & LOGISTICS
Comments:
Invite translators so that experts can fully transmit their knowledge.
Congratulations to the organisers and the lecturers!!
Hand out paper form of the slides in addition to the USB sticks. Hand out list of recommended readings, maybe even
prior to the course.
For people coming from long distance and developing countries, an option of room sharing should be available to reduce
the cost of stay.
52
6. Behavioural and psychiatric aspects of inborn errors of
metabolism, Paris, France, 23 -24 May 2013
6.1. Course description
A number of patients with inborn errors of metabolism (IEM) may present with psychiatric disorders. These may manifest as behavioural disorders in patients with previous developmental delay or as adolescent or adult-onset manifestations such as atypical schizophrenia, depression or cognitive decline. Many IEM are treatable and treatments should be started early to prevent irreversible neurological lesions; therefore it is important to recognise atypical situations in which an IEM should be suspected. This course is designed to give an overview of the clinical features, diagnosis and treatment of behavioural and psychiatric disorders of IEMs in order to improve their recognition and management. The course is run by experienced metabolic and psychiatric experts. There will be a maximum of 35 participants plus faculty. The course is aimed at adult psychiatrists, child psychiatrists, neurologists, neuropaediatricians, metabolic specialists and paediatricians.
6.2. Programme
Thursday 23rd May
8:45 Overview/classification of IEMs
Jean-Marie Saudubray, Paris
9:15 Cognitive risk factors for psychiatric
disorders in genetic syndromes
Stefano Vicari, Rome
9:45 Discussion
9:55 Atypical Psychiatric symptoms in IEMs:
proposition of a diagnostic algorithm
Olivier Bonnot, Paris
10:25 Discussion
10:35 Coffee
11:00 IEMs presenting as early-onset dementia
Frederic Sedel, Paris
11:30 Discussion
11:40 Metabolic factors in common psychiatric
diseases
Florence Thibaut, Rouen
12:10 Discussion
12:20 Metabolic bases of psychotropic drugs
Arvid Carlsson, Stockholm
12:50 Discussion
13:00 Lunch
14:15 Neurobiology of psychiatric disorders
Brad Peterson, New York
14:45 Discussion
15:00 Cases (workshops)
Dementia - Frédéric Sedel, Paris
Behavioural disorders/autism - Angela Garcia,
Barcelona
16:00 Coffee
Psychiatric presentations - Mark Walterfang,
Melbourne
19:15 Departing from hotel by bus to the
“Procope” restaurant
Friday 24th May
8:45 Neurotransmitters (CFD, SSADH, NKH,
serotonin)
Thomas Opladen, Heidelberg
9:15 Discussion
53
9:25 Wilson’s disease
Jean Marc Trocello, Paris
9:55 Discussion
10:05 Porphyrias
David Rees, London
10:35 Discussion
10:45 Coffee
11:05 Urea cycle disorders (UCD)
Robin Lachmann, London
11:35 Discussion
11:45 Niemann Pick type C
Mark Walterfang, Melbourne
12:15 Discussion
12:25 Lunch
13:45 Homocystinuria
Frédéric Sedel, Paris
14:15 Discussion
14:25 Phenylketonuria
Peter Burgard, Heidelberg
14:55 Discussion & final conclusions
15:15 End of course & coffee
6.3. Participants and speakers
Walla Al-Hertani
McGill University
Medical Genetics
2300 rue Tupper
H3H1P3 Montreal, QC, Canada
Maria del Mar Amador
Charité
Psychiatry
Charitéplatz 1
10117 Berlin, Germany
Sara Bahadori
Hopital Robert Debre
child and adolescnt psychiatry
49 Bd serrurier
75020 Paris, France
Chrystèle Bonnemains
University Children's Hospital of Nancy
Reference Center of Metabolic Diseases
Allée du Morvan
54500 Vandoueuvre Les Nancy, France
Halime Tuna Cak
Hacettepe University
Child and adolescent psychiatry
Sihhiye
6100 Ankara, Turkey
Cristian Santiago Caloero Moscoso
Social Security of Ecuador Hospital (HCAM)
Neurology
18 de Septiembre y universitaria avenue
EC 170129, Ecuador
Boris Chaumette
CHU Rouen
Pédopsychiatrie
1, rue de Germont
76000 Rouen, France
Caroline Demily
CH le Vinatier
CRESOP
54
95 Boulevard Pinel
69677 Bron Cedex, France
Gabriella Di Rosa
University Hospital of Messina Unit of Infantile N
Pediatric, Gynecological, Microbiological and Biom
via Consolare Valeria 1
98125 Messina, Italy
Raphaël Gaillard
Centre Hospitalier Sainte Anne
Service Hospitalo-Universitaire de Santé Mentale e
1, rue Cabanis
75014 Paris, France
Mónica García de las Cuevas
Hospital Universitario de Basurto
Neurology
Av Montevideo 18
48013 Bilbao, Spain
Hernan Giraldo
Hospital Mental de Antioquia
Child and Adolescent Psychiatry
calle 38 Num 55-310
Medellín Antioquia, Colombia
Arlindo Guimas
Hospital of Santo Antonio
Internal medicine
Largo Abel Salazar
4000 Porto, Portugal
Richard Hackett
Hope Hospital
Neuropsychiatry
Stott Lane
M6 8HD Manchester, United Kingdom
Mei-Kwun Anne Kwok
Great Ormond Street Hospital for Children
Metabolic Medicine
Great Ormond Street
WC1N 3JH London, United Kingdom
Eduardo Lopez-Laso
University Hospital Reina Sofia
Pediatrics
Av. Menendez Pidal S/N
14004 Cordoba, Spain
Nawal Makhseed
Jahra Hospital
Pediatric Department
12345 Jahra, Kuwait
Clarisa Maxit
Hospital italiano
Pediatria
Gascon 450
1126 Buenos Aires, Argentina
Greta Moorkens
Antwerp University Hospital
general internal medicine
Wilrijkstraat 10
2650 Edegem, Belgium
Kathryn Murrell
Starship Childrens Hospital
Consult Liaison
Level 3
Private Bag 92024
1142 Auckland, New Zealand
Saba Nia
Karl Landsteiner Institute for Cognitive Neurology
Neurology Department Rosenhügel
Riedelgasse 5
Pavillion B
1130 Vienna, Austria
55
Lisa Pan
University of Pittsburgh School of Medicine
Psychiatry
100 N. Bellefield Ave. Rm. 320
15213 Pittsburgh, PA, United States
Mervi Pitkanen
South London and Maudsley NHS Trust,
Neuropsychiatry and Memory Disorders Centre
Adamson Centre, South Wing,
Westminster Bridge Road
SE1 7EH London, United Kingdom
Marion Plaze
Hôpital Sainte-Anne
Service Hospitalo-Universitaire
1, rue cabanis
75014 Paris, France
Gary Price
National Hospital for Neurology
Neuropsychiatry
Queen Square
Box 15
WC1N 3BG London, United Kingdom
Rosa Ribeiro
Centro Hospitalar do Porto
Internal medicine
travessa do paço 66
4405-602 Valadares, Portugal
Mihael Rogac
University Medical Center, Children's hospital
Child, adolescent and developmental neurology
Bohoriceva 20
1000 Ljubljana, Slovenia
Alexandre Salvador
SHU, Centre Hospitalier Sainte Anne, Paris
108 rue de la santé
75014 Paris, France
Helena Santos
Centro Hospitalar de Vila Nova de Gaia/Espinho, EP
Pediatrics
Rua Francisco Sá Carneiro
4400-129 Vila Nova de Gaia, Portugal
Boyd Strauss
Monash University
Department of Medicine, Southern Clinical School
24 Allenby Avenue
3145 Malvern East, Victoria, Australia
Candan Taskiran
Hacettepe University
Child and adolescent psychiatry
Sihhye
6100 Ankara, Turkey
Yannis – John Trakadis
McGill University
Medical and Metabolic Genetics
Tupper Street, Room: A-604
H3H1P3 Montreal, Canada
Avi Valevski
Geha Mental Center
Adult Psychiatry
Helsinki 1
104 Petach Tikva, Israel
María Fernanda Verdaguer
Buenos Aires British Hospital
Psychiatry
Perdriel,74
C1280AEB Buenos Aires, Argentina
56
Fabien Vinckier
ICM
47, boulevard de l'Hôpital
75013 Paris, France
Gisela Wilcox
Salford Royal NHS Foundation Trust
Department of Adult Inherited Metabolic Disorders
Stott Lane
M6 8HD Salford, United Kingdom
Monique Williams
Erasmus Medical Center
Pediatrics
Dr Molewater plein 60
3015 GJ Rotterdam, Netherlands
SPEAKERS
Olivier Bonnot
Mother and Child hospital Nantes
Child and adolescent psychiatry
7 quai Moncousu
44093 Nantes, France
Peter Burgard
Centre for Pediatric and Adolescent Medicine
Dept. of General Pediatrics
Im Neuenheimer Feld 430
69120 Heidelberg, Germany
Arvid Carlsson
Gothenburg, Sweden
Angela Garcia
Sant Joan de Déu
Neurology, neurometabolics
Passeig Sant Joan de Déu, 2
08950 Barcelona, Spain
Robin Lachmann
National Hospital for Neurology & Neurosurgery
Charles Dent Metabolic Unit
Queen Square
WC1N 3BG London, United Kingdom
Thomas Opladen
University Children's Hospital
Dept of General Pediatrics, Division of Inborn
Metabolic Diseases
Im Neuenheimer Feld 430
69120 Heidelberg, Germany
Brad Peterson
NYS Psychiatric Institute
1051 Riverside Drive
10032 NY, New York, USA
David Rees
King's College Hospital
Department of Haematological Medicine
Denmark Hill
SE5 9RS London, United Kingdom
Jean-Marie Saudubray
Pitié-Salpêtrière Hospital
Consultant in metabolid disorders
47 boulevard de l'Hôpital
75651 Paris Cedex 13 , France
Frédéric Sedel
Pitié-Salpêtrière Hospital
Federation of nervous system diseases
47 boulevard de l'Hôpital
75651 Paris Cedex 13, France
Florence Thibaut
University Hospital Ch. Nicolle
INSERM U 614
1 Rue de Germont
76000 Rouen, France
57
Jean-Marc Trocello
Paris-GH St Louis Lariboisière University Hospital
Neurology
2 Rue Ambroise Paré
75475 Paris, France
Stefano Vicari
Children's Hospital Bambino Gesù
Child NeuroPsychiatric Unit
Piazza di Sant'Onofrio, 4
00165 Rome, Italy
Mark Walterfang
Royal Melbourne Hospital
Neuropsychiatry Unit
Level 2, John Cade Building
3050 Melbourne, Australia
58
6.4. End of course evaluation
Overall rating
Participants were asked to answer the question using a 5 point scale (1=poor, 5=excellent)
Excellent56.7%
Very good40%
Good3.3%
Answers
Diagram 1: the overall rating of the course was excellent
Medical degree course
Diagram 2: Delegates by specialty
Medical degree course Metabolics
Paediatrics
Neurology
Child psychiatry
Adult psychiatry
Internal / generalmedicine
37.5% 62.5%
59
Rating of each presentation
(1=poor 5=excellent)
0% 50% 100%
Overview/classification of IEMs
Content
Presentation
Cognitive risk factors for psychiatric …
Content
Presentation
Atypical Psychiatric symptoms in IEMs: …
Content
Presentation
IEMs presenting as early-onset dementia
Content
Presentation
Metabolic factors in common psychiatric …
Content
Presentation
Metabolic bases of psychotropic drugs
Content
Presentation
Neurobiology of psychiatric disorders
Content
Presentation
Workshop with cases
Content
Presentation
Neurotransmitters (CFD, SSADH, NKH, …
Content
Presentation
Wilson’s disease
Content
Presentation
Porphyrias
Concept
Presentation
Urea cycle disorders (UCD)
Content
Presentation
Niemann Pick type C
Content
Presentation
Homocystinuria
Content
Presentation
Phenylketonuria
Content
Presentation
1 2 3 4 5
60
Helpfulness of the course
Participants were asked if the course was helpful in assisting them to manage every day
work and if it was efficient in encouraging them to continue further training:
Length of the course
24 individuals found the length of the course just right whilst 5 found it too short; 1 person
did not reply to the question.
Course met expectations
27 persons replied favourably to the question: “did the course meet their expectations?”, 2
answered no although they rated the course overall as very good, 1 did not answer.
Improvements for the next course
30% of the participants replied they would not change anything if the course is organised
again in the future while 37 % suggested more practical work; 10% would like more theory
and a higher level whilst 7% would suggest a lower level.
Diagram 4
61
OPINION ON THE ORGANISATION & LOGISTICS
![Cyanide Intoxication after Ingestion of Wild Cherry (Prunus Avium) · cause acute cyanide intoxication or some chronic diseases [14]. Several cyanide intoxication cases has been reported](https://static.fdocuments.in/doc/165x107/613b2037f8f21c0c8268d3d6/cyanide-intoxication-after-ingestion-of-wild-cherry-prunus-avium-cause-acute-cyanide.jpg)