November 28, 2015
A Congenital Brain Disorder
Holoprosencephaly is a congenital brain disorder caused by a failure of an embryo’s forebrain to divide to form bilateral cerebral hemispheres (the left and right halves of the brain), causing defects in the development of the face and in brain structure and function.
Also referred to as HPE, this brain malformation can range from mild to severe and is classified into four types:
- Middle Interhemispheric Variant (MIHV) is where the middle of the brain (posterior frontal and parietal lobes) are not well separated.
- Lobar, considered mild, is where the brain is divided and there are some mild abnormalities. A subtype of Lobar is Septopreoptic HPE, is when only a small area of the brain is fused and the abnormalities are very mild; children with this subtype usually have good motor function.
- Semi-Lobar, considered moderate, is where the brain is partially divided and there are some moderate abnormalities; where there are two hemispheres in the rear but not the front of the brain.
- Alobar, considered severe, is where the brain is not divided and there are severe abnormalities.
This rare condition affects between 1 in 5,000-10,000 live births and as high as 1 in 200-250 pregnancies. Individuals with HPE can also have secondary conditions such as cleft lip or palate, feeding issues requiring gastrostomy tube (g-tube), temperature control, diabetes insipidus, movement disorders (motor skills), respiratory disorders, seizures, sensory disorders, and startle reflex. Not all children with HPE will have these conditions – they may have none, some or many of these secondary challenges or they may experience other issues.
Therapy Options for Children with HPE
HPE is a condition without a cure or a standard course of treatment. Treatment for HPE is symptomatic and supportive. Here are some common therapy options for children with HPE:
Augmentative Communication (Alternative Communication (AAC))
A method of communication used by children and adults with severe speech and language disabilities. The methods of AAC will vary and be personalized to meet the needs of the individual. Tools used may range from a basic picture communication board to a dedicated, high-level electronic speech generating device (SGD).
Guided play for children creating learning environments and activities to promote skills in all areas of a child’s development. Much of the therapy is child-directed, meaning the therapist follows the child’s lead. Therapists also show parents techniques for behavior management and modeling within the context of everyday experiences and environment.
A specialized form of physical therapy which uses a horse as a therapy tool to address movement disorders. A hippotherapy treatment is conducted by a licensed and specially trained health care provider, most often a physical or occupational therapist or speech language pathologist. For the child with HPE and low muscle tone or poor motor control, the horse offers a movement experience that cannot be replicated in any clinic. The symmetric movement of the horse mimics human gait and provides neuromuscular information to the child’s nervous system.
Pediatric Feeding Therapy
A combination of treatments that help children who have difficulties related to eating or drinking. There are many different types of feeding problems, and the therapy is individualized for each child.
Pediatric Occupational Therapy
Focuses on a child’s sensory and motor skills, emotional development, self-care abilities and play skills to help improve successful functioning in the home, at school and in the community. An Occupational Therapist (OT) is skilled at assessing a child’s level of function in areas such as fine and gross motor, visual perception, visual motor, self-cares/activities of daily living, feeding and sensory processing. In addition, he/she is trained in assessing the need for adaptive equipment and technology, and making the proper recommendations.
Pediatric Physical Therapy
A health care specialty that evaluates, diagnoses, and treats disorders of the musculo-skeletal system in children. Physical therapy (PT) is provided by physical therapists, who are licensed health care professionals with a master’s or doctorate degree in physical therapy. A physical therapist assesses areas concerning joint motion, muscle control, strength, coordination, balance, movement patterns, sensory issues, mobility, gait and equipment.
Pediatric Speech and Language Therapy
Provides assessment and treatment of a child’s communication skills including speech, language, play and social interaction development. The focus of treatment may be on improving oral-motor skills, developing alternative means of communication, and improving language and cognitive skills.
An individualized treatment program designed to correct visual-motor and/or perceptual-cognitive deficiencies. Vision therapy trains the entire visual system, which includes eyes, brain and body. However, it is important to understand that vision therapy is a form of neurological training or rehabilitation (it can be compared to some forms of occupational therapy or physical therapy). The goal of vision therapy is to train the patient’s brain to use the eyes to receive information effectively, comprehend it quickly and react appropriately.
Epic is Here to Help
At Epic Health Services we are dedicated to providing exceptional patient care and committed to our patients well-being through all stages of life and health. With our commitment to improving the lives of all those we care for daily, we also strive to educate and build awareness around rare diseases such as Holoprosencephaly, FOXG1, Osteogenesis Imperfecta, and many others. Join us along with the countless families in spreading the word, raising awareness, and fighting to find a cure for this rare disease.
For more about Epic Health Services and our therapy services, click here.