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

[email protected]

Marieke Biegstraaten

Academic Medical Center

Internal Medicine, F5-169

Meibergdreef 9

1105 AZ Amsterdam

Netherlands

[email protected]

Marieke Bokhoven

University College London

Medicine

Paul O'Gorman Building, Huntley Street

WC1E 6DD London

United Kingdom

[email protected]

Martijn Brouwers

Maastricht University Medical Center

Endocrinology

Debyelaan 25

6229 HX Maastricht

Netherlands

[email protected]

Teresa Cardoso

Hospital de S. João

Internal Medicine

Alameda Prof. Hernâni Monteiro

4200 – 319 Porto

Portugal

[email protected]

Grainne Connolly

Belfast Trust

Clinical Biochemistry

57

BT9 5GT Belfast

United Kingdom

[email protected]

Arlindo Guimas

Hospital Santo Antonio

Internal Medicine

Largo Abel Salazar

4099-001 Oporto

30

Portugal

[email protected]

Onno Holleboom

Academic Medical Center, Amsterdam

Internal Medicine

Meibergdreef 9

1105 AZ Amsterdam

Netherlands

[email protected]

Francois Karstens

Erasmuc MC

Internal Medicine

's Gravendijkwal 230

3000CA Rotterdam

Netherlands

[email protected]

Vanessa Leguy-Seguin

CHU Le Bocage

Internal Medicine

5-7, rue du Pr Marion

21079 Dijon cedex

France

[email protected]

Gabor Linthorst

Academic Medical Center

Internal Medicine, endocrinology and metabolism

Meibergdreef 9

1105 AZ Amsterdam

Netherlands

[email protected]

Greta Moorkens

Antwerp University hospital

General internal medicine

Wilrijkstraat 10

2650 Edegem

Belgium

[email protected]

Pasi Nevalainen

Tampere University Hospital

Internal Medicine

Teiskontie 35

33521 Tampere

Finland

[email protected]

Mirjam Oosterwerff

Vu Medical Center

Endocrinology

de Boelelaan 1117

1081 HV Amsterdam

Netherlands

[email protected]

Jordi Pérez López

Vall d'Hebron Hospital

Internal Medicine

Passeig Vall d'Hebron, 119-129

8035 Barcelona

Spain

[email protected]

Alexander Rennings

Radboud University Nijmegen

Internal Medicine

Geert Grooteplein Zuid 8

6525 EZ Nijmegen

Netherlands

[email protected]

Rosa Ribeiro

Hospital de santo antónio

internal medicine

Travessa do paço 66

4405 Vila nosa de gaia

Portugal

[email protected]

Sara Isabel Rocha

Hospital de Santo António - Centro Hospitalar do P

Internal Medicine

Rua das Andorinhas

4435-488 Rio Tinto

Portugal

[email protected]

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

[email protected]

Boyd Strauss

Monash University

Department of Medicine, Southern Clinical School

24 Allenby Avenue

3145 Malvern East, Victoria

Australia

[email protected]

Marielle vd Heiden-Schroijen

LUMC

Endocrinology

Archimedesstraat 66

2517 RX The Hague

Netherlands

[email protected]

Gisela Wilcox

Monash University

Department of Medicine, Southern Clinical School

24 Allenby Avenue

3145 Malvern East, Victoria

Australia

[email protected]

SPEAKERS

Annet Bosch

Amsterdam Medical Center

Dept. of Pediatrics

Meibergdreef 9

1105 AZ Amsterdam

Netherlands

[email protected]

Ries Duran

Amsterdam Medical Center

Clinical biochemical geneticist, Lab. Genetic

Metabolic Diseases, FO-221

Meibergdreef 9

1105 AZ Amsterdam

Netherlands

[email protected]

Perry Elliot

The Heart Hospital

16-18 Westmoreland Street

W1G 8PH London

United Kingdom

[email protected]

Johannes Häberle

University Children's Hospital

Division of Metabolism

Steinwiesstrasse 75

8032 Zürich

Switzerland

[email protected]

Carla Hollak

Academic Medical Center

Division of Endocrinology and Metabolism, F5-170

PO box 22660

1100 DD Amsterdam

Netherlands

[email protected]

Mirian Janssen

Radboud University Nijmegen Medical Centre

Department of General Internal Medicine;

Huispostnr 463

Box 9101

6500 HB Nijmegen

Netherlands

[email protected]

Robin Lachmann

National Hospital for Neurology & Neurosurgery

Charles Dent Metabolic Unit

Queen Square

WC1N 3BG London

United Kingdom

[email protected]

Pascal Laforêt

CHU Hôpital Pitié-Salpêtrière

Institut de myologie

47-83 Boulevard de l'Hôpital

75651 Paris Cedex 13

France

32

[email protected]

Janneke Langendonk

Erasmus Medical Center

Office D-416

PO box 2040

3000 CA Rotterdam

Netherlands

[email protected]

Ekkehart Lausch

Universitaetsklinikum Freiburg

Sektion Pädiatrische Genetik

Mathildenstraße 1

79106 Freiburg

Germany

[email protected]

Francois Maillot

CHRU de Tours, Hôpital Bretonneau

Service de médecine interne et nutrition

2 boulevard Tonnellé

37044 Tours Cedex 9

France

[email protected]

Elaine Murphy

National Hospital for Neurology and Neurosurgery

Charles Dent Metabolic Unit

Queen Square

WC1N 3BG London

United Kingdom

[email protected]

33

Simon Olpin

Sheffield Children's Hospital

Department of Clinical Chemistry, Western Bank

Western Bank

S10 2TH Sheffield

United Kingdom

[email protected]

Daniel Rabier

Necker-Enfants Malades Hospital

Laboratoire de biochimie

149, rue de Sèvres

75743 Paris Cedex 15

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]

Peter Smit

Beatrix Children's Hospital

Dept of Metabolic Diseases

P O Box 30.001

9700 RB Groningen

Netherlands

[email protected]

Stephan vom Dahl

St. Franziskus-Hospital

Innere Medizin/Gastroenterologie

Schönsteinstrasse 63

50825 Köln

Germany

[email protected]

Andrew Webster

Moorfields Eye Hospital

London, EC1V 2PD

United Kingdom

[email protected]

Frits Wijburg

Academic Medical Centre

Department of Paediatrics

Meidergdreef 9

1105 DE Amsterdam

Netherlands

[email protected]

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

[email protected]

Katrin Adrian

Queen Silvias Childrens Hospital

Pediatric medicine

Smorslottsgatan

41685 Göteborg

Sweden

[email protected]

Amal Aljishi

Ministry of health

pediatric

hassan bin thabit

1367

31911 Qatif

Saudi Arabia

[email protected]

Salwa Alkhalifi

MCH Dammam

Medical Genetics

Bin Jelwy

31443 Dammam

Saudi Arabia

[email protected]

Huda Al-Khawaja

MCH

Pediatrics

Hassa

2886

913182 Hassa

Saudi Arabia

[email protected]

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

[email protected]

Siddharth Banka

St. Mary's Hospital

Genetic Medicine (Willink Biochemical Unit)

Oxford Road

M13 9WL Manchester

United Kingdom

[email protected]

Spyros Batzios

Aristotle University of Thessaloniki

1st Department of Paediatrics

49 Konstantinoupoleos str

54642 Thessaloniki

Greece

[email protected]

Karmen Bilic

Clinical Hospital Centre Zagreb

Laboratory diagnostics

Kia Paticeva 12

10000 Zagreb

Croatia

[email protected]

Grainne Connolly

Belfast Trust

Clinical Biochemistry

57

BT9 5GT Belfast

United Kingdom

[email protected]

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

[email protected]

43

Hana EL Abidi

Tripoli university Faculty of Medicine

peadiatrics, Alkhadra hospital

278 Tripoli

Libyan Arab Jamahiriya

[email protected]

Javier Gomez

Norfolk and Norwich University Hospitals

Clinical Biochemistry

Colney Lane

NR4 7UY Norwich

United Kingdom

[email protected]

Anil Jalan

NIRMAN

Biochemical genetics

C-116, Om Rachana Society, Sector 17, Vashi

400705 Navi Mumbia

India

[email protected]

Dagmar Jamiolkowski

Center for Child and Adolescent Medicine Heidelber

Metabolism Center

Im Neuenheimer Feld 430

69120 Heidelberg

Germany

[email protected]

Saskia Koene

Radboud University Nijmegen - Medical Centre

Nijmegen Centre for Mitochondrial Disorders;

Paediatrics

Marialaan 316

6541RRNijmegen

Netherlands

[email protected]

Maha Mansour

Cairo Univesity/Egypt-JCH/KSA

Pediatrics/IEM clinic

Old airport street

115

21411 Jeddah

Saudi Arabia

[email protected]

Susana Monroy-Santoyo

National Institute of Pediatrics

Inborn Errors of Metabolism and screening

Av. Iman #1 9th floor

4530 Mexico City

Mexico

[email protected]

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

[email protected]

Natalia Pechatnikova

Russian State Medical University

Medical Genetics

Poslannikov pereulok 11/14

105005 Moscow

Russia

[email protected]

Barbara Perkowska-Sumila

The Children's Memorial Health Institute

Dept of Metabolic Diseases

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Vasilica Plaiasu

IOMC Alfred Rusescu

Clinical Genetics

Bd.Lacul Tei nr.120

20395 Bucharest

Romania

[email protected]

Paulina Pokora

The Children's Memorial Health Institute

Dept of Metabolic Diseases

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

44

Silvija Puseljic

Clinical Hospital Center Osijek

Genetic and metabolism

J. Huttlera 4

31000 Osijek

Croatia

[email protected]

Isaque Qureshi

nottingham's children's hospital

Family health

QMC campus, Derby road

NG7 2UH Nottingham

United Kingdom

[email protected]

Rúben Ramos

Faculty of Pharmacy University of Lisbon

Metabolism and Genetics

Av. Prof. Gama Pinto

1649-003 Lisboa

Portugal

[email protected]

Fereshteh Saeed Tehrani

Medical Center for Children Hospital

Metabolic Ward

Aghdacieh st,Sepand st,Maryam alley,No 6

1956734611 Tehran

Iran, Islamic Republic Of

[email protected]

Andrea Simona Scrobote

Institute for Mother and Child Care "Alfred Rusesc

Pediatrics

Postavarul, No 3C, app 48

app. 48

32426 Bucharest

Romania

[email protected]

Raed Selmi

San Paolo Hospital

Pediatrics - inborn errors of metabolism

Via A Di Rudini,8

20093 Milan

Italy

[email protected]

Man Ting Soo

Kwong Wah Hospital

Paediatrics

25 Waterloo Road, Yaumatei

Kowloon

Hong Kong

[email protected]

Christian Maximilian Staufner

Paediatric Hospital Heidelberg, University Clinic

Division of Inborn Errors of Metabolism

Im Neuenheimer Feld 430

69120 Heidelberg

Germany

[email protected]

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

[email protected]

Isidro Vitoria

Hospital La Fe

Unit of Metabolopathies

Bulevar sur s/n

46026 Valencia

Spain

[email protected]

LIST OF SPEAKERS

Alberto Burlina

University Hospital

Division of Metabolic Disorders

Via Giustiniani, 3

35128 Padova

45

Italy

[email protected]

Krystyna Chrzanowska

The Children's Memorial health Institute

Department of Medical Genetics

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Ries Duran

Amsterdam Medical Center

Clinical biochemical geneticist, Lab. Genetic Metabolic

Diseases, FO-221

Meibergdreef 9

1105 AZ Amsterdam

Netherlands

[email protected]

Wanda Gradowska

The Children's Memorial health Institute

Department of Biochemistry and Experimental Medicine

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Stephanie Grünewald

Great Ormond Street Hospital

Metabolic medicine

Great Ormond Street

WC1N 3JH London

United Kingdom

[email protected]

Carla Hollak

Academic Medical Center

Division of Endocrinology and Metabolism, F5-170

PO box 22660

1100 DD Amsterdam

Netherlands

[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]

Agnieszka Kowalik

The Children's Memorial health Institute

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Katharzyna Kusmierska

The Children's Memorial health Institute

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Eva Morava

Universitair Medisch Centrum St Radboud

833 Dept. Of Metabolic diseases

PO Box 9101

6500 HB Nijmegen

Netherlands

[email protected]

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

[email protected]

Dariusz Rokicki

The Children's Memorial Health Institute

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Jan Smetink

Universitair Medisch Centrum St Radboud

Institue for Genetic and Metabolic Disease

PO Box 9101

6500 HB Nijmegen

Netherlands

[email protected]

46

Jolanta Sykut-Cegielska

The Children's Memorial Health Institute

Dept of Metabolic Diseases

Al. Dzieci Polskich 20

04-730 Warsaw

Poland

[email protected]

Stuart Tanner

University of Sheffield at The Children's Hospital

Institute of Child Health

Western Bank

S10 2TH Sheffield

United Kingdom

[email protected]

Margarete van Rijn

Beatrix Children's Hospital, University Medical Center

Groningen

Section of Metabolic Diseases

P O Box 30.001

9700 RB Groningen

Netherlands

[email protected]

Gepke Visser

Wilhelmina Children's Hospital

Department of peditaric gastroenterology and

metabolic disorders

KC 03.063.0 UMCU

3584 EA Utrecht

Netherlands

[email protected]

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

[email protected]

Maria del Mar Amador

Charité

Psychiatry

Charitéplatz 1

10117 Berlin, Germany

[email protected]

Sara Bahadori

Hopital Robert Debre

child and adolescnt psychiatry

49 Bd serrurier

75020 Paris, France

[email protected]

Chrystèle Bonnemains

University Children's Hospital of Nancy

Reference Center of Metabolic Diseases

Allée du Morvan

54500 Vandoueuvre Les Nancy, France

[email protected]

Halime Tuna Cak

Hacettepe University

Child and adolescent psychiatry

Sihhiye

6100 Ankara, Turkey

[email protected]

Cristian Santiago Caloero Moscoso

Social Security of Ecuador Hospital (HCAM)

Neurology

18 de Septiembre y universitaria avenue

EC 170129, Ecuador

[email protected]

Boris Chaumette

CHU Rouen

Pédopsychiatrie

1, rue de Germont

76000 Rouen, France

[email protected]

Caroline Demily

CH le Vinatier

CRESOP

54

95 Boulevard Pinel

69677 Bron Cedex, France

[email protected]

Gabriella Di Rosa

University Hospital of Messina Unit of Infantile N

Pediatric, Gynecological, Microbiological and Biom

via Consolare Valeria 1

98125 Messina, Italy

[email protected]

Raphaël Gaillard

Centre Hospitalier Sainte Anne

Service Hospitalo-Universitaire de Santé Mentale e

1, rue Cabanis

75014 Paris, France

[email protected]

Mónica García de las Cuevas

Hospital Universitario de Basurto

Neurology

Av Montevideo 18

48013 Bilbao, Spain

[email protected]

Hernan Giraldo

Hospital Mental de Antioquia

Child and Adolescent Psychiatry

calle 38 Num 55-310

Medellín Antioquia, Colombia

[email protected]

Arlindo Guimas

Hospital of Santo Antonio

Internal medicine

Largo Abel Salazar

4000 Porto, Portugal

[email protected]

Richard Hackett

Hope Hospital

Neuropsychiatry

Stott Lane

M6 8HD Manchester, United Kingdom

[email protected]

Mei-Kwun Anne Kwok

Great Ormond Street Hospital for Children

Metabolic Medicine

Great Ormond Street

WC1N 3JH London, United Kingdom

[email protected]

Eduardo Lopez-Laso

University Hospital Reina Sofia

Pediatrics

Av. Menendez Pidal S/N

14004 Cordoba, Spain

[email protected]

Nawal Makhseed

Jahra Hospital

Pediatric Department

12345 Jahra, Kuwait

[email protected]

Clarisa Maxit

Hospital italiano

Pediatria

Gascon 450

1126 Buenos Aires, Argentina

[email protected]

Greta Moorkens

Antwerp University Hospital

general internal medicine

Wilrijkstraat 10

2650 Edegem, Belgium

[email protected]

Kathryn Murrell

Starship Childrens Hospital

Consult Liaison

Level 3

Private Bag 92024

1142 Auckland, New Zealand

[email protected]

Saba Nia

Karl Landsteiner Institute for Cognitive Neurology

Neurology Department Rosenhügel

Riedelgasse 5

Pavillion B

1130 Vienna, Austria

55

[email protected]

Lisa Pan

University of Pittsburgh School of Medicine

Psychiatry

100 N. Bellefield Ave. Rm. 320

15213 Pittsburgh, PA, United States

[email protected]

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

[email protected]

Marion Plaze

Hôpital Sainte-Anne

Service Hospitalo-Universitaire

1, rue cabanis

75014 Paris, France

[email protected]

Gary Price

National Hospital for Neurology

Neuropsychiatry

Queen Square

Box 15

WC1N 3BG London, United Kingdom

[email protected]

Rosa Ribeiro

Centro Hospitalar do Porto

Internal medicine

travessa do paço 66

4405-602 Valadares, Portugal

[email protected]

Mihael Rogac

University Medical Center, Children's hospital

Child, adolescent and developmental neurology

Bohoriceva 20

1000 Ljubljana, Slovenia

[email protected]

Alexandre Salvador

SHU, Centre Hospitalier Sainte Anne, Paris

108 rue de la santé

75014 Paris, France

[email protected]

Helena Santos

Centro Hospitalar de Vila Nova de Gaia/Espinho, EP

Pediatrics

Rua Francisco Sá Carneiro

4400-129 Vila Nova de Gaia, Portugal

[email protected]

Boyd Strauss

Monash University

Department of Medicine, Southern Clinical School

24 Allenby Avenue

3145 Malvern East, Victoria, Australia

[email protected]

Candan Taskiran

Hacettepe University

Child and adolescent psychiatry

Sihhye

6100 Ankara, Turkey

[email protected]

Yannis – John Trakadis

McGill University

Medical and Metabolic Genetics

Tupper Street, Room: A-604

H3H1P3 Montreal, Canada

[email protected]

Avi Valevski

Geha Mental Center

Adult Psychiatry

Helsinki 1

104 Petach Tikva, Israel

[email protected]

María Fernanda Verdaguer

Buenos Aires British Hospital

Psychiatry

Perdriel,74

C1280AEB Buenos Aires, Argentina

[email protected]

56

Fabien Vinckier

ICM

47, boulevard de l'Hôpital

75013 Paris, France

[email protected]

Gisela Wilcox

Salford Royal NHS Foundation Trust

Department of Adult Inherited Metabolic Disorders

Stott Lane

M6 8HD Salford, United Kingdom

[email protected]

Monique Williams

Erasmus Medical Center

Pediatrics

Dr Molewater plein 60

3015 GJ Rotterdam, Netherlands

[email protected]

SPEAKERS

Olivier Bonnot

Mother and Child hospital Nantes

Child and adolescent psychiatry

7 quai Moncousu

44093 Nantes, France

[email protected]

Peter Burgard

Centre for Pediatric and Adolescent Medicine

Dept. of General Pediatrics

Im Neuenheimer Feld 430

69120 Heidelberg, Germany

[email protected]

Arvid Carlsson

Gothenburg, Sweden

[email protected]

Angela Garcia

Sant Joan de Déu

Neurology, neurometabolics

Passeig Sant Joan de Déu, 2

08950 Barcelona, Spain

[email protected]

Robin Lachmann

National Hospital for Neurology & Neurosurgery

Charles Dent Metabolic Unit

Queen Square

WC1N 3BG London, United Kingdom

[email protected]

Thomas Opladen

University Children's Hospital

Dept of General Pediatrics, Division of Inborn

Metabolic Diseases

Im Neuenheimer Feld 430

69120 Heidelberg, Germany

[email protected]

Brad Peterson

NYS Psychiatric Institute

1051 Riverside Drive

10032 NY, New York, USA

[email protected]

David Rees

King's College Hospital

Department of Haematological Medicine

Denmark Hill

SE5 9RS London, United Kingdom

[email protected]

Jean-Marie Saudubray

Pitié-Salpêtrière Hospital

Consultant in metabolid disorders

47 boulevard de l'Hôpital

75651 Paris Cedex 13 , 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]

Florence Thibaut

University Hospital Ch. Nicolle

INSERM U 614

1 Rue de Germont

76000 Rouen, France

[email protected]

57

Jean-Marc Trocello

Paris-GH St Louis Lariboisière University Hospital

Neurology

2 Rue Ambroise Paré

75475 Paris, France

[email protected]

Stefano Vicari

Children's Hospital Bambino Gesù

Child NeuroPsychiatric Unit

Piazza di Sant'Onofrio, 4

00165 Rome, Italy

[email protected]

Mark Walterfang

Royal Melbourne Hospital

Neuropsychiatry Unit

Level 2, John Cade Building

3050 Melbourne, Australia

[email protected]

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