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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