Stefania Bigoni, M.D. Ph.D. (Italy)

Medical Genetic Section, University Hospital of Ferrara, leader of the team of Genetic Counseling.

Graduated in 1995 in Medicine at the Ferrara University, she obtained the specialization in Medical Genetics in 1999. She is a member of the Italian Society of Human Genetics (SIGU) and since 2008 of the European Research Rett Syndrome Association (ESRRA). She has written several conference papers and publications in national and international journals about genetic studies on Thalassemia and Hemoglobinopathies, Autism spectrum disorders, Intellectual disability and the Rett Syndrome".

Giorgio Pini , M.D.(Italy)

Specialist in Child and Adolescent Neuropsychiatry and Clinical Psychology.

Director of the Department of Child Neuropsychiatry at Versilia Hospital, Lido di Camiore and of the Tuscany Rett Centre, Versilia Hospital, Lido di Camaiore, Italy.

esrra_bengt_ engerstrm

Bengt Engerström, M.D. (Sweden)

Specialist in Anaesthesiology and Intensive Care, Östersund hospital.

Work included the Pain clinic and management of Helicopter and Road Ambulance care. He supports Autonomic monitoring at the National Swedish Rett Center by organizing special medical equipment and tests notably for the respiratory investigations and treatment and also blood electrolyte measurements.


Ingegerd Witt Engerström, M.D. Ph.D (Sweden)

Pediatrician and childneurologist. Senior Consultant and Medical Director of the National Swedisch Rett Center, Frösön.

Doctorate thesis on Rett syndrome in 1990. Founded the National Swedish Rett Center, a Center of Excellence at Frösön in 1995. It is a government-funded, cross professional center for specialist care, research and education on Rett syndrome. Brought research on the central autonomic control in Rett syndrome to Sweden in 1998 with dr P. Julu: The Frösö Declaration on intervention was published in the The Lancet in June 2008.

Lars Engerström, M.D. (Sweden)

Specialist physician in Anesthesiology and Intensive Care. Department of Anesthesiology, Vrinnevi Hospital, Norrköping and the Department of Thoracic Surgery, Linköping University Hospital, Sweden.

Worked with the medical equipment and assessments from the start of Autonomic monitoring at the Swedish Rett Center in 1998. He developed the computer program for semi-automatic analysis of breathing patterns which is used for Autonomic monitoring/Corticobulbar neurophysiology.

Gunilla Larsson, M.Sc. (Sweden)

Physiotherapist, the National Swedish Rett Center, Fröson.

Has worked as a physiotherapist in rehabilitation for children and adolescents with physical disabilities since 1978. She has worked at the Swedish Rett Center since the mid 90’s. She also works as a researcher (PhD student) at the department of Community Medicine and Rehabilitation at Umeå University.

Lena Svedberg, Ph.D. (Sweden)

Physiotherapist, the National Swedish Rett Center, Frösön

Specialist in paediatric physiotherapy with particular interest in skin temperature and blood flow in relation to autonomic nervous system functions. In 2009 she defended her thesis entitled: “Cold feet in children with neurological disorders”, at Sahlgrenska Academy, University of Gothenburg, Sweden. Between 1983 and 2010 she was physiotherapist at the rehabilitation unit (habilitering in Swedish) in Örnsköldsvik, Sweden, working with children, adolescents and adults with physical and learning disorders.

Märith Bergström-Isacsson, Ph.D (Sweden)

Music therapist at the National Swedisch Rett Center, Frösön.

Music therapist and music tutor in early childhood music, special schools for children with learning disabilities, autism centers, paediatric rehabilitation, and an instructor for preschool and school personnel in the subject of music. She completed her doctorate at the Department of Communication and Psychology at Aalborg University, Denmark in 2011. Her thesis is titled 'Music and Vibroacoustic Stimulation in People with Rett Syndrome - A Neurophysiological Study'.  

Sami S F Al-Rawas, Ph.D. (Oman)

Consultant in Clinical Neurophysiology and Clinical Autonomic Investigation in the Department of Clinical Physiology/Clinical Neurophysiology at Sultan Qaboos University Hospital - Oman.


Professor Leopold M G Curfs, Ph.D. (The Netherlands)       

Professor of Intellectual Disabilities and director of the Governor Kremers Centre at the Maastricht University Medical Centre.         

Has published and presented extensively on medical, behavioral and psychiatric aspects of genetically determined neurodevelopmental disorders e.g. Rett syndrome. He is one of the co-founders of the ESSRA group (European Scientific Rett Research Association) and a member of the ESSRA board. For the IPWSO (International Prader-Willi Syndrome Organisation) he has the chair of the Scientific Advisory Board. He is officer of the SSBP (Society for the the Study of Behavioural Phenotypes; Honorary Secretary). Together with dr. Smeets and dr. van Waardenburg he heads up the Rett Expertise Centre in the Netherlands.

Nicky S J Halbach, M.D. (The Netherlands)

Medical doctor at the Department of Clinical Genetics – Governor Kremers Centre of the Maastricht University Medical Centre.       

Is researcher at the Rett expertise Center of the MUMC. Her publications concern “Aging in Rett syndrome”, "The use of genotype phenotype relationships in clinical practice" and "Creatine metabolism in Rett syndrome".


Eric E J Smeets, M.D. Ph.D. (The Netherlands)

Pediatrician and child neurologist at the Department of Clinical Genetics – Governor Kremers Centre of the Maastricht University Medical Centre.

Consultant Pediatrician at the Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium. He has a long standing experience with developmental disorders and genetic syndromes in children and adults with intellectual disability. He is the author of several articles on Rett syndrome and MECP2 related disorders. He is heading together with prof. Curfs and dr. van Waardenburg the Rett Expertise Centre in the Netherlands. Together with prof. Curfs and dr. van Waardenburg he heads up the Rett Expertise Centre in the Netherlands.


Gill Townend, M. Phil., B. Med. Sci. (Speech) (The Netherlands)

Researcher and Augmentative & Alternative Communication Expert, Rett Expertise Centre, within the Governor Kremers Centre at Maastricht University Medical Centre

Worked as a speech and language therapist in the UK from 1989-2008, specialising in AAC with clients with learning and physical disabilities and with neurological impairments. Co-led the Devices for Dignity AAC project in the UK from 2008. Now living in the Netherlands and working as Specialist in Communication and AAC at the Rett Expertise Centre, Maastricht.


Peter O O Julu M.D. Ph.D. (United Kingdom)

Consultant Physician, Senior Clinical Research Fellow of Imperial College, London, Specialist Autonomic Neurophysiologist at the National Swedish Rett Center, Frösön, Sweden and Honorary Consultant Autonomic Neurophysiologist at Barts and the Royal London NHS Trust, UK.


Flora Apartopoulos (United Kingdom)

Chief Clinical Physiologist (Neuro), Department of Neurophysiology, Institute of Neurological Sciences, South Glasgow University Hospitals, Glasgow, Scotland (retired). Currently the physiologist in charge at the National Swedish Rett Center, Frösön, Sweden.

Has long experience of EEG in Rett Syndrome.

Robert S Delamont, M.D. Ph.D. (United Kingdom)

Consultant Neurologist & Neurophysiologist, Regional Neurosciences Centre, King’s College Hospital NHS Foundation Trust and King’s Health Partners, London UK.

Has a long standing interest in Epilepsy and Episodic Disorders with particular reference to Sudden Death in Epilepsy.

Stig Hansen, Ph.D. (United Kingdom)

Clinical Scientist at the Institute of Neurological Sciences, South Glasgow University Hospitals, Glasgow, Scotland

Special interest in quantitative sensory testing and autonomic function testing. Working at the National Swedish Rett Center in a consulting capacity.


Elias Keter (United Kingdom)

Senior Clinical Physiologist (Neuro), UK and Mayfair Hospital Croydon, London. 



The following countries and persons are members of ESRRA.

   Stefania Bigoni, M.D. Ph.D.
   Giorgio Pini, M.D.
   Märith Bergström-Isacsson, Ph.D.    
   Bengt Engerström, M.D.
   Ingegerd Witt Engerström, M.D. Ph.D.
   Lars Engerström, M.D.
   Gunilla Larsson, M.Sc.   Lena Svedberg, Ph.D.
   Sami S F Al-Rawas, Ph.D.
netherlands-flag-64The Netherlands     
   Professor Leopold M G Curfs, Ph.D. 
   Nicky Halbach, M.D.
   Eric E J Smeets, M.D. Ph.D.
   Gill Townend, M. Phil., B. Med. Sci.
   Dick A. van Waardenburg, M.D., Ph.D.
united-kingdom-flag-64United Kingdom
   Peter O O Julu, M.D. Ph.D.
   Flora Apartopoulos
   Robert S Delamont, M.D. Ph.D.
   Stig Hansen, Ph.D.
   Elias Keter


ESRRA was founded in May 2008 by a group of Physcicians and Scientists working with Rett Syndrome people.


Mission statement:   

To improve the clinical management and quality of life for Rett Syndrome people.

We do this by research into the severe cardiorespiratory problems experienced by RTT persons, finding ways of treating these problems, giving advice to doctors and health professionals who look after RTT people.

We have published a strategy for practical management of cardiorespiratory problems in the Lancet - The Frösön Declaration - that can be applied across all the tiers of health care