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Future direction of Moebius field

Join the Moebius Syndrome conference on April 24-25, 2007, to explore the current landscape and future directions in understanding and managing this rare condition. Discussions will cover defining Moebius Syndrome, mechanisms of the disease, associated features, diagnosis, management, cognitive and psychosocial aspects, and necessary infrastructure. Presenters will address genetic, developmental, and neurobiological aspects, diagnostic criteria, treatment standards, and support systems. Participate in shaping the cognitive, psychosocial, and research agenda for Moebius Syndrome.

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Future direction of Moebius field

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  1. Future direction of Moebius field Outcome of the Moebius syndrome conference April 24-25, 2007

  2. Agenda for discussion • Overall goals: • Identify problems and questions • Propose solutions • Areas of research topics: • Definition of Moebius • Mechanisms of disease • Syndromic • Specific manifestations • Diagnostic categories / diagnosis • Management and treatment • Cognitive and psychosocial • Infrastructure

  3. Definition of Moebius Syndrome/Sequence • Minimum criteria: • Congenital, uni- or bilateral non-progressive facial weakness and limited abduction of the eye(s). • Additional features may include: • other cranial nerve, motor, orofacial, musculo-skeletal, neurodevelopmental and social problems.

  4. Mechanisms of Moebius • Etiologies genetics (family-based, trio, association) embryology/developmental biology (teratogens, animal models?) genetic-environmental interactions neurobiology (anatomy, physiology, functional imaging) natural history • Etiologies of specific associated features • Autism spectrum disorders • developmental delay • Club foot • arthrogryposis • Poland and hand anomalies • Klippel-Feil • Speech clarity disorder/feeding and swallowing difficulties/oral-facial • Sleep disorders • dental • Eye movement disorders and lacrimal dysfunction • Hearing deficits • Sensory processing deficits • Psychiatric Disorders C. Natural History • Psychosocial Trajectories of Development - Lifetime follow-up

  5. Diagnostic categories / diagnosis

  6. Management and treatment • Establish standards of clinical care in the areas of: • Ophthalmologic - Dr. Miller • Musculo-skeletal - Dr. De Pellegrin • Dental - Marina • Facial surgery • Feeding and Nutrition • Oral-motor-speech therapy • Longitudinal assessment, intervention and developmental monitoring • Family/caregiver support • Genetic counseling/education • Psychosocial support

  7. Cognitive and psychosocial

  8. Infrastructure • Registry • Phenotyping (common data elements) • Familial DNA, blood and tissue repository(ies) • Image data • Autopsy and post-mortem tissue

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