Program

Schedule and Topics

Follow us on Facebook

Download of congress program

Download PDF

Thursday, 2. November 2017

Time Room 1 Room 2 Room 3 Lounge or outside

Thursday, 2. November11:00-12:30

Welcome Deutsche Simultanübersetzung

Location: Room 1

Opening Session

    Chairs:

  • F. Hanefeld

    (Goettingen, Germany)

  • G. Kessler, President of Rett Elternhilfe

    (Nalbach, Germany)

    Moderation:

  • B. Wilken, Congress President

    (Kassel, Germany)

Talks:

  • Rett Syndrome, the rise and natural history
    • A. Percy

      (Birmingham, USA)

  • Reading from her book ”Brief an meine Schwester“
    • L. Malton

      (Berlin, Germany)

Thursday, 2. November14:00-15:30

Session 2: MeCP2 function Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • P. Burfeind

    (Goettingen, Germany)

  • P. Huppke

    (Goettingen, Germany)

Talks:

  • Role of the MeCP2 protein in activity-dependent neuronal responses
    • L. Boxer

      (Boston, USA)

  • MECP2 expression and Rett Syndrome-like phenotypes
    • P. Ross

      (Glasgow, UK)

  • MeCP2 and regulation of cortical plasticity
    • S. Shea

      (Cold Spring Harbor, USA)

Session 3: Communication Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • T. Bartolotta

    (West Long Branch, USA)

  • J. Lunding

    (Glostrup, Denmark)

Talks:

  • Linguistic´s of speech initiation and support
    • K. Nonn

      (Munich, Germany)

  • Communication in individuals with Rett Syndrome
    • G. Townend

      (Maastricht, Netherlands)

  • Communication strategies for non-speaking children, core and fringe Vocabulary
    • J. Boenisch

      (Cologne, Germany)

  • Transfer of communication in daily life
    • J. Wine

      (Karkur, Israel)

AKUK 1 Workshop

Location: Room 3

Rett-Basic

Language: German, no English translation

    Moderation:

  • M. Westphal

    (Barnstedt, Germany)

  • A. von Lukas-Sterner

    (Rostock, Germany)

Thursday, 2. November16:00-18:00

The World Café Deutsche Simultanübersetzung

Location: Room 1

Plenum 17:45-18:00

    Moderation:

  • D. Maack

    (Hamburg, Germany)

  • H.-J. Christen

    (Hannover, Germany)

    Concluding remarks:

  • D. Maack

    (Hamburg, Germany)

  • H.-J. Christen

    (Hannover, Germany)

Talks:

  • Epilepsy
    • T. Bast

      (Kork, Germany)

    • B. Wilken

      (Kassel, Germany)

  • Transition
    • L. Malton

      (Berlin, Germany)

    • H. Leonard

      (Subiaco, Australia)

  • Breathing disturbance, sleeping problems
    • J. Turk

      (London, UK)

    • J.M. Ramirez

      (Seattle, USA)

  • International guidelines for communication
    • G. Townend

      (Maastricht, Netherlands)

    • H. Wandin

      (Uppsala, Sweden)

    • T. Bartolotta

      (West Long Branch, USA)

Session 4: Free papers: Challenges in genetics research Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • F. Laccone

    (Vienna, Austria)

Talks:

  • A novel Mecp2 Y120D knockin mouse model manifests typical “Rett-like” behavioral phenotypes but distinct molecular features with respect to the null background
    • N. Landsberger

      (Milano, Italy)

  • Primary cilia require a functional MeCP2: can MECP2 patients be affected also by a ciliopathy?
    • N. Landsberger

      (Milano, Italy)

  • Genotype-phenotype databases for Rett syndrome and where to find them
    • F. Ehrhart

      (Maastricht, Netherlands)

  • Reduced responsiveness to external stimuli affects developing Mecp2 null neurons and may represent a target for future therapeutic approaches
    • L. Scaramuzzaa

      (Milano, Italy)

  • Mechanisms of transcriptional regulation by MeCP2
    • J. Cholewa-Waclaw

      (Edinburgh, United Kingdom)

  • The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
    • S. Vidal

      (Barcelona, Spain)

  • Radically shortened MeCP2 reverses Rett syndrome-like neurological defects
    • J. Selfridge

      (Edinburgh, United Kingdom)

  • Clinical and genetic investigation of a Danish cohort of 35 patients with Rett-like phenotypes
    • B. Schönewolf-Greulich

      (Glostrup, Denmark)

AKUK 2 Workshop

Location: Room 3

Talker structures / UK ideas and implementation in practice

The number of participants is restricted to 25 (registration on-site, no early sign-up necessary).

Language: German, no English translation

    Moderation:

  • C. Hirsch

    (Amelinghausen, Germany)

  • M. Rosenits

    (Eberbach, Germany)

Orthopedic devices Workshop

Location: Room 3

The number of participants is restricted to 30 (registration on-site, no early sign-up necessary).

Language: German, no English translation

    Moderation:

  • S. Morth

    (Kassel, Germany)

  • M. Hoffmann

    (Kassel, Germany)

Thursday, 2. November18:00-21:00

Get-Together

Location:

Directly after this day’s sessions

Friday, 3. November 2017

Time Room 1 Room 2 Room 3 Lounge or outside

Friday, 3. November09:00-11:00

Session 5: Basic research Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • P. Huppke

    (Goettingen, Germany)

  • P. Burfeind

    (Goettingen, Germany)

Talks:

  • Characterization of autonomic dysfunction in Rett Syndrome and other MeCP2 disorders
    • J. Neul

      (Nashville, USA)

  • Role of MeCP2 in regulating chromatin organization/remodeling
    • C. Cardoso

      (Darmstadt, Germany)

  • Genomics of Rett Syndrome
    • M. Esteller

      (Barcelona, Spain)

  • Physiological and pathophysiological role of MeCP2 expression on central synapse function and synapse formation
    • C. Rosenmund

      (Berlin, Germany)

  • MeCP2 deficiency, microtubule dynamics and vesicular transport
    • T. Bienvenu

      (Paris, France)

Session 6: Special issues in Rett Syndrome Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • B. Wilken, Congress President

    (Kassel, Germany)

  • J.M. Ramirez

    (Seattle, USA)

Talks:

  • Sleep disturbances in Rett Syndrome
    • J. Turk

      (London, UK)

  • Breathing abnormalities and regulation in Rett
    • J.M. Ramirez

      (Seattle, USA)

  • Vibration training physiotherapy (Galileo) in Rett Syndrome
    • E. Schönau

      (Cologne, Germany)

  • Bone health in Rett Syndrome
    • E. Schönau

      (Cologne, Germany)

Communication Workshop

Location: Room 3

Developing ways of using AAC – illustrated by the example of a girl with Rett Syndrome

Language: German, no English translation

    Moderation:

  • Ch. Dieckmann

    (Fuerth, Germany)

Friday, 3. November11:30-12:30

Session 7: Transition Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • A. Ferbert

    (Kassel, Germany)

  • W. Asthalter

    (Koerle, Germany)

Talks:

  • Transition in Rett Syndrome
    • H. Leonard

      (Subiaco, Australia)

  • Aging in Rett Syndrome
    • M. Freilinger

      (Vienna, Austria)

    • E. Smeets

      (Maastricht, Netherlands)

Session 8: Free papers: free communications Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • M. Müller

    (Goettingen, Germany)

Talks:

  • Abnormal foot position and standing and walking ability in Rett syndrome: an exploratory study
    • H. Borst

      (Maastricht, Netherlands)

  • Eye Tracking devices and cognitive capacity in Rett Syndrome: a research study
    • G. Martino

      (Messina, Italy)

  • Eye-gaze technology as a communication device: habilitation process with three subjects with Rett Syndrome
    • L. Lintula

      (Tampere, Finland)

  • The Preliminary Study of AAC Service Delivery Model for Children with Rett syndrome in China
    • T.W. Wang

      (Taipei, Taiwan)

Friday, 3. November12:30-14:00

Country Updates - Room “Opal”

Location: Room 3

Friday, 3. November13:00-13:30

Posterwalk 1

Location:

Posters 1-6

    Chairs:

  • S. Schulze

    (Kassel, Germany)

Friday, 3. November14:00-15:30

Session 9: Communication Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • C. Petzold

    (Roesrath, Germany)

  • G. Townend

    (Maastricht, Netherlands)

Talks:

  • Emergent Literacy for Girls with Rett Syndrome
    • S. Sachse

      (Cologne, Germany)

  • Combining AAC and Partner Coaching
    • T. Bartolotta

      (West Long Branch, USA)

  • Visual attention when aided language modeling is used in interaction
    • H. Wandin

      (Uppsala, Sweden)

  • Realtime video registration of communication through eye gaze devices in girls with Rett Syndrome
    • G. Scholte

      (Utrecht, Netherlands)

Session 10: Free papers Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • S. Hülsmann

    (Goettingen, Germany)

  • W. Asthalter

    (Koerle, Germany)

Talks:

  • Role of inhibitory neurons for the breathing pathology in mouse models of Rett Syndrome
    • S. Hülsmann

      (Goettingen, Germany)

  • Cellular redox imbalance and oxidative stress in Rett Syndrome: Deciphering their roles as potential key players in disease progression
    • M. Müller

      (Goettingen, Germany)

  • The 5-ht5b receptor interacts with other receptor subtypes - implications for signaling defects in Rett syndrome
    • M. Niebert

      (Goettingen, Germany)

  • Epilepsy in Rett syndrome from a lifetime perspective
    • M.W. Henriksen

      (Drammen, Norway)

  • Non epileptic paroxysmal events in Rett Syndrome
    • A. Vignoli et al.

      (Milano, Italy)

  • Management of Emotional, Behavioural and Autonomic Dysregulation (EBAD) in patients with Rett Syndrome
    • P. Santosh

      (London, United Kingdom)

  • Aberrant glutamate handling and signaling in Rett mouse hippocampus
    • S. Mironov

      (Goettingen, Germany)

    • S. Balakrishnan

      (Goettingen, Germany)

  • Rett syndrome spectrum-like phenotype in siblings with ALG1-CDG
    • A.T. Midro et al.

      (Bialystok, Poland)

Friday, 3. November16:00-17:30

Session 11: CDKL5 Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • A. Panzer

    (Berlin, Germany)

  • C. Fuchs

    (Bologna, Italy)

Talks:

  • The molecular mechanisms of CDKL5
    • T. Pizzorusso

      (Florence, Italy)

  • Experimental therapeutic approach for CDKL5
    • C. Fuchs

      (Bologna, Italy)

  • Phenotypes and the therapeutic challenges of CDKL5
    • S. Philip

      (Birmingham, UK)

  • Combination of intensive physiotherapy in treatment of children with CDKL5. The Footsteps Center
    • A. Mason

      (Wallingford, UK)

Session 12: Orthopedic and related Problems Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • A.-K. Hell

    (Goettingen, Germany)

  • J. Downs

    (Subiaco, Australia)

Talks:

  • Experience with Transition, a single center experience
    • A. Ferbert

      (Kassel, Germany)

  • Motor development
    • J. Downs

      (Subiaco, Australia)

  • Scoliosis in Rett Syndrome
    • A.-K. Hell

      (Goettingen, Germany)

Communication Workshop

Location: Room 3

"Rett-CHAT" - Communication - Hope - Again - Technology

Language: German, no English translation

    Moderation:

  • R. Malzer

    (Pichl, Austria)

Friday, 3. November17:45-18:45

Session 13: Round table discussion: Direction of future research projects Deutsche Simultanübersetzung

Location: Room 1

    Moderation:

  • P. Huppke

    (Goettingen, Germany)

    Participants:

  • M. Freilinger

    (Vienna, Austria)

  • G. Townend

    (Maastricht, Netherlands)

  • J. Neul

    (Nashville, USA)

  • W. Kaufmann

    (Boston, USA)

  • P. Burfeind

    (Goettingen, Germany)

  • L. Boxer

    (Boston, USA)

Friday, 3. November19:20-0:30

Gala-Dinner

Location:

At KOSMOS Berlin – shuttle bus available for all participants (19h20 and 19h30)

Saturday, 4. November 2017

Time Room 1 Room 2 Room 3 Lounge or outside

Saturday, 4. November08:30-09:30

Posterwalk 2

Location:

Poster 7-16

    Chairs:

  • A. Panzer

    (Berlin, Germany)

Saturday, 4. November09:30-11:00

Session 14: Epilepsy Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • T. Bast

    (Kork, Germany)

  • H.-J. Christen

    (Hannover, Germany)

Talks:

  • Clinical manifestation and prognosis
    • T. Bast

      (Kork, Germany)

  • Antiepileptic therapy
    • A. Vignoli et al.

      (Milano, Italy)

  • Differential diagnosis of epileptic seizures
    • T. Dietel

      (Kork, Germany)

Session 15: Free Papers: Special issues in Rett Syndrome Deutsche Simultanübersetzung

Location: Room 2

    Chairs:

  • M. Freilinger

    (Vienna, Austria)

  • E. Smeets

    (Maastricht, Netherlands)

Talks:

  • Growth of Dutch females with Rett Syndrome: Comparison with Healthy Dutch Females and American Females with Rett Syndrome
    • E. Smeets

      (Maastricht, Netherlands)

  • Long distance home-based, physical therapy, consultation for individuals with Rett Syndrome – a pilot study
    • M. Lotan

      (Ariel, Israel)

  • Findings from a national evaluation of 145 Italian Rett syndrome cohort, over the years 2013-2017
    • M. Lotan

      (Ariel, Israel)

  • Enablers and barriers to ‘up-time’ activities in girls and women with Rett syndrome - Perspectives from parents and professionals
    • M. Stahlhut

      (Copenhagen, Denmark)

  • Physical activity patterns across ambulation levels in girls and women with Rett syndrome
    • M. Stahlhut

      (Copenhagen, Denmark)

  • Establishing a University-Based Center for Research and Support for Individuals with Rett Syndrome and their Families
    • P.A. Remshifski

      (West Long Beach, USA)

  • Important symptoms of Rett Syndrome and their impact: the perspective of parents and healthcare providers
    • K. Williams

      (London, United Kingdom)

  • Aging in Rett syndrome: risk of decline in gross motor skills
    • A.-M. Bisgaard

      (Copenhagen, Denmark)

  • You never walk alone - Gait Training for Children and Teenagers with Rett Syndrome
    • A. Jagusch-Espei

      (Münster, Germany)

Transition Workshop

Location: Room 3

A report from the German Rett Syndrome working group on the successful outcome of their 12 year study on ageing and transition to adulthood

The number of participants is restricted to 50 (registration on-site, no early sign-up necessary).

Language: English / German

    Moderation:

  • W. Asthalter

    (Koerle, Germany)

Saturday, 4. November11:30-13:30

Session 16: New treatment options Deutsche Simultanübersetzung

Location: Room 1

    Chairs:

  • W. Kaufmann

    (Boston, USA)

  • F. Laccone

    (Vienna, Austria)

Talks:

  • Treatment options in Rett Syndrome, opportunities and false hopes
    • W. Kaufmann

      (Boston, USA)

  • Update protein replacement therapy
    • F. Laccone

      (Vienna, Austria)

  • Update MeCP2 reactivation
    • J. Gribnau

      (Leiden, Netherlands)

  • Update Gene therapy in Rett Syndrom
    • K. Gadalla

      (Glasgow, United Kingdom)

  • Genome editing using CRISPR-Cas9 - Applications in Rett Syndrome and neurodevelopmental disorders
    • A. Banerjee

      (Zürich, Switzerland)

Saturday, 4. November14:00

Farewell and concluding remarks Deutsche Simultanübersetzung

Location: Room 1

    Moderation:

  • B. Wilken, Congress President

    (Kassel, Germany)

  • G. Kessler, President of Rett Elternhilfe

    (Nalbach, Germany)