Practical Approaches to Amish Inherited Disease

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1 Practical Approaches to Amish Inherited Disease Saturday, April 25, :45 a.m. - 5 p.m. The Pier/Beacon Hill Community School Winesburg Rd. Mount Eaton, Ohio

2 Who Should Attend The conference is designed for clinicians and other health care workers, educators, administrators and board members who serve the Anabaptist (Amish and Mennonite) populations west of central Pennsylvania. Continuing Education Childrens Hospital Medical Center of Akron is accredited by the Ohio State Medical Association to provide continuing medical education for physicians. Childrens Hospital Medical Center of Akron designates this live educational activity for a maximum of 6.75 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in this activity.ama PRA Category 1 credits are accepted by the Ohio Board of Nursing for CEU. Nurses should only claim credit commensurate with the extent of their participation in the activity. Ohio Department of Developmental Disabilities approval for Early Intervention CEU s is pending. Registration This conference is free. This conference is funded by a Medical Research Foundation Alexander Fleming Dissemination Award. Pre-registration is required. Registration deadline is April 15, Same-day registration is not provided. Handouts, lunch and refreshments are included with registration. Special Accommodations If you need special accommodations due to a disability, please notify Arie Troyer at by April 15. Planning Committee Emma Baple, MBBS, MRCPCH, PhD Andrew Crosby, PhD Martha Horst, RN, MSN Freda Miller Kris Schmucker, MT(ASCP) Arie Troyer, LPN Olivia Wenger, MD Katrina Wolford, CME Coordinator

3 Lodging A discounted rate of $135/night is available at the Wallhouse Hotel, Walnut Creek, OH (www.wallhousehotel.com) for Friday April 24 and Saturday April 25. Call / to reserve a room. Be sure to mention the Windows of Hope discount when making your reservation. Call Arie Troyer at if you prefer other lodging suggestions. Location/Directions The Pier at Lighthouse of Hope Note that Winesburg Road is also Winesburg Road county road 186. The Pier houses Dundee, Ohio Beacon Hill Community School. From Akron/North: Follow 77-South to exit 104/30 West. Take 30 West to OH-241 exit toward Brewster/Mt. Eaton. Turn left onto Millersburg Road SW/OH-241. Follow OH miles into Mt Eaton. At the first Mt. Eaton red light/red Tomato market, turn right onto Main Street/US-250/OH-241. At the second Mt. Eaton red light, turn left onto OH-241. Follow OH miles to county road 186/Winesburg Road. Bear left onto county road 186/Winesburg Road. Follow County Road 186/Winesburg Road 1.3 miles to The Pier. Enter the drive on the left. From Walnut Creek/South: take Rt. 515 out of Walnut Creek (past Der Dutchman) through Trail for 5 miles to Rt. 62. Turn right on Rt. 62 & follow that for 2 miles through Winesburg to CR 186. Veer left onto CR 186 (by sign to Sojourner's Lodge). Follow CR 186 around a sharp left & it becomes Winesburg Rd. Stay on Winesburg Road for 3 miles. You will reach the Pier on your right. Look for a sign with a Lighthouse on it. From Wooster/West: Follow OH-250 East into Mount Eaton. Turn right at the first Mt. Eaton red light onto OH-241. Follow OH 241 south 0.3 miles to county road 186/Winesburg Road. Bear left onto county road 186/Winesburg Road. Follow CR 186/Winesburg Road 1.3 miles to The Pier. Enter the drive on left. Disclosure Statement As a provider of the Ohio State Medical Association, it is the policy to require the disclosure of the existence of any financial interest a planning committee member and presenters have with either the commercial supporter(s) of this activity or the manufacture(s) of any commercial product(s) discussed, and when necessary, resolve any potential conflict. None of the planning committee members have a financial conflict to disclose or resolve. The following presenters have the following conflict to disclose: Kenneth Zahka, MD: AIM Imaging

4 Conference Objectives Neurodevelopmental Disorders The Delayed, Fussy, or Seizing Baby: Diagnosis is Possible! Panel members: Emma Baple, MBBS, MRCPCH, PhD, Margaret McBride, MD, Kevin Strauss, MD, Olivia Wenger, MD Case Presenters: Tom Herr, MD, Brent Lehman, MD Recognize population-specific differential diagnoses for: Hypotonia/Spasticity Fussy infant Failure to thrive Developmental delay/intellectual disability Epilepsy Ataxia/Movement Disorders Autism Describe how to investigate infants/children from the plain population presenting with neurodevelopmental or neurodegenerative disorders Develop appreciation for multidisciplinary management strategies of inherited neurodevelopmental disorders including: Brittle hair syndrome Cockayne syndrome GM3 synthase deficiency GM2 synthase deficiency HERC2 related disorder (Blue Eye Delay syndrome) KPTN related disorder (MASD syndrome) MTPAP related spastic ataxia Nephrocerebellar syndrome SNIP1 related disorder (Symptomatic Epilepsy and Skull Dysplasia) SAMHD1 Aicardi Goutieres syndrome Recognize inheritance patterns of common neurodevelopmental disorders in the plain population Recognize the utility of early genetic testing in improving health care outcomes and learn how to access this Cartilage Hair Hypoplasia Dennis Weiner, MD, Emma Baple, MBBS, MRCPCH, PhD, Kevin Strauss, MD Describe the typical orthopedic clinical issues of patients with CHH Identify typical radiologic features (orthopedic) of CHH Indicate the typical orthopedic problems of CHH that will likely require surgical treatment Recognize the importance of preventative care in the CHH population

5 Inherited Cardiac Conditions Titus Dutcher, MD, Kenneth Zahka, MD Recognize the common inherited cardiac conditions in the community (hypertrophic cardiomyopathy, long QT syndrome and propionic acidaemia) and formulate a differential diagnosis and management plan Identify when it is appropriate to refer to cardiology Hereditary Spastic Paraplegias Nolan Byler, DO, Christos Proukakis, MBBS, FRCP, PhD Recognize common causes of HSP in the plain population (GM2 synthase deficiency, Troyer and Mast syndrome), differentiating clinical features, inheritance patterns, and genetic counseling issues Develop skills in clinical management of HSP Group discussion Emma Baple, MBBS, MRCPCH, PhD, Olivia Wenger, MD Identify barriers to early diagnosis of inherited disease in Northeast Ohio s plain people Develop strategies to improve the care of common inherited disorders in our patient population Develop priorities for culturally appropriate, population based intervention and preventative care within a medical home model Faculty Emma Baple, MBBS, MRCPCH, PhD Consultant Clinical Geneticist University Hospital Southampton Windows of Hope Project, Exeter Margaret McBride, MD Pediatric Neurologist Akron Childrens Hospital Akron, OH Nolan Byler, DO Family Practice Mount Eaton, OH Titus Dutcher, MD East Holmes Family Practice Walnut Creek, OH Thomas Herr, MD Family Practice Coon Valley, WI Brent Lehman, MD Family Practice Mount Eaton, OH Elton Lehman, DO Family Practice Mount Eaton, OH Kevin Strauss, MD Pediatrician/Medical Director Clinic for Special Children Strasburg, PA Olivia Wenger, MD Pediatrician/Medical Director New Leaf Clinic for Special Children Mount Eaton, OH Dennis Weiner, MD Pediatric Orthopedic Surgeon Akron Childrens Hospital Akron, OH Kenneth Zahka, MD Pediatric Cardiologist Cleveland Clinic Childrens Hospital Cleveland, OH Christos Proukakis, MBBS, FRCP, PhD Consultant Neurologist University College London, England

6 Conference Agenda 8:15-8:45 a.m. Check-in 8:45-9:00 a.m. Welcome Olivia Wenger, MD 9:00-9:15 a.m. Healthcare Delivery to Northeast Ohio s Amish: Historical Perspective Elton Lehman, DO 9:15 a.m. - 12:00 p.m. Neurodevelopmental Disorders The Delayed, Fussy or Seizing Baby: Diagnosis is Possible! Panel members: Emma Baple, MBBS, MRCPCH, PhD, Margaret McBride, MD, Kevin Strauss, MD, Olivia Wenger, MD Case Presenters: Tom Herr, MD, Brent Lehman, MD 9:15-10:15 a.m. Cases #1 and 2 10:15-10:30 a.m. Coffee Break 10:30-11:15 a.m. Case #3 11:15 a.m. - 12:00 p.m. Case #4 12:00-1:00 p.m. Cartilage Hair Hypoplasia Dennis Weiner, MD, Emma Baple, MBBS, MRCPCH, PhD, Kevin Strauss, MD 1:00-1:45 p.m. Lunch 1:45-2:45 p.m. Inherited Cardiac Conditions Titus Dutcher, MD, Kenneth Zahka, MD 2:45-3:45 p.m. Hereditary Spastic Paraplegia Nolan Byler, MD, Christos Proukakis, MBBS, FRCP, PhD 3:45-4:00 p.m. High Tea 4:00-5:00 p.m. Group discussion Emma Baple, MBBS, MRCPCH, PhD, Olivia Wenger, MD, Kevin Strauss, MD

7 Registration Form This conference is free thanks to the support of the Windows of Hope Genetics Information Center/Alexander Fleming Dissemination Award. However, pre-registration is required for attendance. Please complete and mail the form below to register. NAME TITLE ORGANIZATION ADDRESS CITY STATE ZIP WORK PHONE CELL PHONE ADDRESS Please check one: o MD/DO o APN o RN/LPN o ST/OT/PT o Midwife o Other For more information, call Arie Troyer at Mail form to: Arie Troyer New Leaf Clinic for Special Children PO Box B East Chestnut Street Mt. Eaton, OH 44659

8 New Leaf Clinic for Special Children PO Box B East Chestnut Street Mt. Eaton, OH 44659

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