Holoprosencephaly
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Transcript of Holoprosencephaly
{
Holoprosencephaly
Living with HoPE
Birth defect which occurs during the first few weeks of gestation.
Brain does not divide into separate hemispheres
Ranges from mild to severe
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
HPE
Cause Unknown
Chromosomal abnormalities identified in some patients
X-linked recessive in some families
HPE
Maternal diabetes
Drugs during pregnancy Aspirin Lithium Anticonvulsants
Infections during pregnancy Syphilis Toxoplasmosis Herpes
HPE risk factors
Alobar No Division Semilobar Partial Division Lobar Divided with areas of fusion MIV (middle interhemispheric variant) Mid brain not
well divided
HPE
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
HPE symptoms
Primarily Facial Deformities Small head Single-nostril nose Close set eyes Cleft lip/palate Cyclopia
HPE physical characteristics
Control with medication Telling other students what to expect
Unexpected seizures can be scary for everyone
What to do in an emergency
Epilepsy
Tube feeding can be given in 3 different ways
Pump Gravity drip Syringe
Tube positioning Jejunostomy Gastrostomy Nasogastric
Keeping area around tube clean Usually the responsibility of the school
nurse
Gastrointestinal
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
Early Intervention
Physical Language and speech Social and emotional Adaptive Cognitive
Developmental teachers Occupational therapists Physical therapists Speech and language
pathologist/audiologists Vision consultants Hearing consultants
Early Intervention
“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/About-Occupational-Therapy.aspx#sthash.rvNWxQB7.dpuf
Occupational Therapy
“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
The Carter Centers for Brain Research in Holoprosencephaly & Related Malformations
http://www.carterdatabase.org/hpe/Information & Assistance
http://familiesforhope.org
Cognitivehttp://www.nsnet.org/start/cognitive.pdfEarly Interventionhttp://www.earlyinterventionsupport.com/therapyoptions/early/default.aspxEpilepsyhttp://www.epilepsyfoundation.org/livingwithepilepsy/parentsandcaregivers/parents/your-child-at-school.cfmGastrointestinalhttp://www.health.qld.gov.au/nutrition/resources/etf_tfah.pdfInformation and Assistancehttp://familiesforhope.orgOccupational & Physical Therapyhttp://www.otplan.com/articles/differences-between-occupational-therapy-and-physical-therapy.aspxhttp://www.aota.org/About-Occupational-Therapy.aspxhttp://www.apta.org/aboutPTs/
References