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Living with HoPE: Understanding Holoprosencephaly
- 2. HPE Birth defect which occurs during the first few weeks of gestation. Brain does not divide into separate hemispheres Ranges from mild to severe
- 3. HPE Affects between 1 in 5,000-10,000 live births Frequency may be as high as 1 in 200-250 < 3% of all fetuses with HPE survive to delivery Majority won’t survive past 6 months ~Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
- 4. HPE Cause Unknown Chromosomal abnormalities identified in some patients X-linked recessive in some families
- 5. HPE risk factors Maternal diabetes Drugs during pregnancy Aspirin Lithium Anticonvulsants Infections during pregnancy Syphilis Toxoplasmosis Herpes
- 6. HPE Alobar No Division Semilobar Partial Division Lobar Divided with areas of fusion MIV (middle interhemispheric variant) Mid brain not well divided
- 7. HPE symptoms Excessive fluid in the brain Varying degrees of mental retardation Epilepsy Other organ system abnormalities cardiac, skeletal, gastrointestinal Degree of delay correlates with severity of malformation
- 8. HPE physical characteristics Primarily Facial Deformities Small head Single-nostril nose Close set eyes Cleft lip/palate Cyclopia
- 9. Control with medication Telling other students what to expect Unexpected seizures can be scary for everyone What to do in an emergency Epilepsy
- 10. Tube feeding can be given in 3 different ways Tube positioning Pump Gravity drip Syringe Jejunostomy Gastrostomy Nasogastric Keeping area around tube clean Usually the responsibility of the school nurse Gastrointestinal
- 11. Depending on degree of delay students may experience difficulty with Learning Communication Social & Independent skills Academic Leisure & Work skills Acquisition & Transfer of skills Difficulty with physical/motor Cognitive
- 12. Physical Language and speech Social and emotional Adaptive Cognitive Early Intervention
- 13. Developmental teachers Occupational therapists Physical therapists Speech and language pathologist/audiologists Vision consultants Hearing consultants Early Intervention
- 14. “In its simplest terms, occupational therapists and occupational therapy assistants help people across the lifespan participate in the things they want and need to do through the therapeutic use of everyday activities (occupations). Common occupational therapy interventions include helping children with disabilities to participate fully in school and social situations, helping people recovering from injury to regain skills, and providing supports for older adults experiencing physical and cognitive changes.” - See more at: http://www.aota.org/AboutOccupational-Therapy.aspx#sthash.rvNWxQB7.dpuf Occupational Therapy
- 15. “Physical therapists can teach patients how to prevent or manage their condition so that they will achieve long-term health benefits. PTs examine each individual and develop a plan, using treatment techniques to promote the ability to move, reduce pain, restore function, and prevent disability. In addition, PTs work with individuals to prevent the loss of mobility before it occurs by developing fitness- and wellness-oriented programs for healthier and more active lifestyles.” http://www.apta.org/aboutPTs/ Physical Therapy
- 16. http://familiesforhope.org The Carter Centers for Brain Research in Holoprosencephaly & Related Malformations http://www.carterdatabase.org/hpe/ Information & Assistance
- 17. Cognitive http://www.nsnet.org/start/cognitive.pdf Early Intervention http://www.earlyinterventionsupport.com/therapyoptions/early/default.aspx Epilepsy http://www.epilepsyfoundation.org/livingwithepilepsy/parentsandcaregivers /parents/your-child-at-school.cfm Gastrointestinal http://www.health.qld.gov.au/nutrition/resources/etf_tfah.pdf Information and Assistance http://familiesforhope.org Occupational & Physical Therapy http://www.otplan.com/articles/differences-between-occupational-therapyand-physical-therapy.aspx http://www.aota.org/About-Occupational-Therapy.aspx http://www.apta.org/aboutPTs/ References
Notas del editor
- Physical development a child's ability to move, see and hearLanguage and speech development a child's ability to talk and communicateSocial and emotional development a child's ability to play, interact and relate to othersAdaptive development a child's ability to handle self-care functions, such as feeding and dressingCognitive development a child's ability to think and learn
- The occupational therapist is trained to modifying the physical environment as well as training the person to use assistive equipment to increase independence. They focus to help their patients engage in meaningful activities of daily living (ADLs). The physical therapist is trained to identifying and maximizing quality of life and movement potential within the spheres of promotion, prevention, diagnosis, treatment/intervention, and rehabilitation. They focus on the physical, psychological, emotional, and social well-being.