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 Specific manifestations –Diagnostic categories / diagnosis –Management and treatment –Cognitive and psychosocial –Infrastructure

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.

Mechanisms of Moebius A.Etiologies genetics (family-based, trio, association) embryology/developmental biology (teratogens, animal models?) genetic-environmental interactions neurobiology (anatomy, physiology, functional imaging) natural history B.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

Diagnostic categories / diagnosis

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

Cognitive and psychosocial

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