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Future direction of Moebius field

Future direction of Moebius field. Outcome of the Moebius syndrome conference April 24-25, 2007. Agenda for discussion. Overall goals: Identify problems and questions Propose solutions Areas of research topics: Definition of Moebius Mechanisms of disease Syndromic

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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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