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"Aerodynamically, the bumblebee should not be able to fly.
But, the bumblebee does not know that so it goes on flying anyway."
~Mary Kay Ash

MEDICAL TERMS/ASSOCIATED CONDITIONS GLOSSARY:

The following list contains many common terms you may hear or read when raising your child with hydranencephaly. They are broken down into categories for ease of use.

COMMON ISSUES:

PULMONARY

Aspiration: A piece of tissue called the epiglottis normally prevents food from entering your lungs by covering your trachea, or windpipe, as you're swallowing. Aspiration happens when you breathing in a foreign object (such as sucking food, liquid or saliva into the trachea (airway)).

Excessive drooling: an excessive amount of saliva exiting the mouth. Interestingly, many kids with cerebral palsy (present in many children with hydranencephaly) do not actually produce “extra” saliva. Rather, dysfunctional oral motor control seems to be responsible for saliva overflow from the mouth.

Larynglomalacia: collapse of tissue in the larynx above the vocal cords. Laryngomalacia causes a squeaky, high-pitched noise in children that commonly occurs while children are breathing in. This is known as stridor.

Pneumonia: (there are multiple types of pneumonia, however, in hydranencephaly the most common is aspiration pneumonia) Aspiration pneumonia occurs when foreign materials (usually food, liquids, vomit, or fluids from the mouth) are breathed into the lungs or airways leading to the lungs. This may lead to: 1) A collection of pus in the lungs (lung abscess) 2) swelling and inflammation in the lung 3) A lung infection (pneumonia)

Tracheomalagcia: cartilage in the windpipe (trachea) doesn’t develop properly. Instead of being rigid, the walls of the trachea are floppy. Symptoms can range from mild to severe and may include: Breathing noises that may change with position and improve during sleep, Breathing problems that get worse with coughing, crying, feeding, or upper respiratory infections, High-pitched breathing, Rattling or noisy breaths

CARDIAC

Bradycardia – slow/low heart rate

Tachycardia – fast/high heart rate

GI

Bowel obstruction: blockage of the small intestine or colon (large intestine) that prevents food and fluid from passing through

Constipation: Also walks hand-in-hand with neurological conditions. Add the likelihood of children with hydranencephaly taking anticonvulsants for seizure control, the lack of mobility exhibited, and the limited diet; you will battle constipation more often than nearly every other complication.

Reflux/GERD: a condition in which the stomach contents (food or liquid) leak backwards from the stomach into the esophagus (the tube from the mouth to the stomach). This action can irritate the esophagus, causing heartburn and other symptoms.

ASSOCIATED CONDITIONS/ISSUES:

Asthma/Reactive Airway Disease: Sometimes the terms "reactive airway disease" and "asthma" are used interchangeably, though not always the same thing. RAD is a more generalized term that does not prompt a specific diagnosis, more generally for respiratory issues with an unknown cause. Accurate testing for asthma is generally impossible before the age of 6, therefore early childhood generally brings the label of RAD prior to eventually receiving a diagnosis of asthma. Oftentimes a preventative pharmaceutical regimen will be prescribed to inhibit complications.

Cortical visual impairment: visual impairment due to damage to the visual cortex, the posterior visual pathways or both. This means it is a condition that indicates that the visual systems of the brain do not consistently understand or interpret what the eyes see. The presence of CVI is not an indicator of the child's cognitive ability

Diabetes Insipidus: This is a condition in which the kidneys are unable to conserve water, which means an excessive urine output and higher sodium levels in our children. Management is possible with medical intervention.

Epilepsy/Lennox Gastaut Syndrome: Seizures, often without a known cause or even confirmation via EEG, are another common symptom of children with hydranencephaly. Lennox Gastaut is another diagnosis you may hear in conjunction with the severe epileptic spells that our children display, with small periods of undetected or even non-existent seizures scattered amongst longer periods of seizures activity. Seizures are most generally controlled with a combination of pharmaceuticals and other complementary/alternative interventions.

Ineffective thermoregulation: poor maintenance of body heat - Hyperthermia: high temperature - Hypothermia: low temperature

Precocious puberty: the onset of signs of puberty before age 7 or 8 in girls and age 9 in boys

Sleep apnea: a sleep disorder characterized by abnormal pauses in breathing or instances of abnormally low breathing, during sleep. Each pause in breathing, called an apnea, can last from a few seconds to minutes, and may occur 5 to 30 times or more an hour.[1] Similarly, each abnormally low breathing event is called a hypopnea - central: means that the cause of the apnea is located centrally, or in the nervous system - obstructive: means that the cause of the apnea is obstruction, often by the structures of the throat and the change in their anatomy as they relax when the person falls asleep

Cerebral Palsy: This is an umbrella term that covers most neurological conditions that affect nervous system functioning. All children with hydranencephaly have some level of CP, even if not formally diagnosed.

Dyskinesia: impairment in the ability to control movements, characterized by spasmodic or repetitive motions or lack of coordination

Scoliosis: abnormal curving of the spine

Spasticity: This is the increased tone, or rigidity, of the muscles. Oftentimes this limits the already limited mobility and purposeful movement possibilities for children, though therapy and pharmaceutical intervention have proven successful and management.

Hydrocephalus: This is the build-up of cerebrospinal fluid within the cranial cavity. Many, but not all, children with hydranencephaly also have hydrocephalus. Medical intervention most often comes in the form of shunt placement to assist with draining of the fluid to decrease pressure and growth in head circumference for children.

Irritability: Most children prove to be most irritable during the first year of life, calming immediately upon the arrival of their first birthday. Causes are generally unknown, but could be related to muscle spasms and oftentimes reflux.

Failure to Thrive/Feeding Concerns: Various feeding complications present themselves during the lifetime of children with hydranencephaly. Concerns are generally managed with placement of feeding tubes and/or intensive feeding therapies.

TYPES OF DOCTORS often involved in the care of a child with hydranencephaly:

Developmental Pediatrics: specialized treatment and assessment for children with developmental delays

Ear, Nose, and Throat (ENT): any conditions associated with ears, nose, and throat: apnea, swallowing, etc.

Endocrinology (ENDO): in cases that hormonal concerns arise: diabetes, thyroid, growth, etc.

Gastroenterology (GI): to manage constipation, feeding issues, reflux, and any other complications with the stomach and/or intestinal tract.

Home Health/Hospice: care in the home for those needing long-term nursing care; hospice for terminal patients.

Neurology (neuro): this is a must as hydranencephaly is a neurological condition.

Neurosurgery: may not be necessary in many cases, unless hydrocephalus becomes an issue.

Ophthalmology (OPTH): for obtaining eye glasses or managing general health of your child’s eyes

Orthopedics (ortho): combat bone concerns; most often with hips and legs

Physical Medicine/Rehabilitation: obtaining braces, orthotics, and therapeutic services; also durable medical equipment such as bath chairs, mobility devices, etc.

Pulmonology (pulmo): for management of respiratory issues

TYPES OF EQUIPMENT/PROCEDURES sometimes encountered:

Suction – involves the use of something to clear the airway. Could be a traditional bulb aspirator used with infants, or a machine to clear the airway (think of the “sucker” at the dentist).

 

CPT – (chest physiotherapy) involves maneuvers to assist in draining secretions and consolidation in the lungs

Syringe – used most often to administer medications. May or may not include a needle. Comes in various sizes from less than 1mL to 60mL or more.

Space blanket – often used for emergencies or camping for warmth, this is a great sensory item for hydran kids because of its reflectability and noisiness.

Tumbleform – type of positioning seat

Special Tomato Seat – type of positioning seat

Pulse oximeter – a piece of equipment that attaches to a child finger via a sensor called a probe that tracks the child’s heart rate and oxygen saturation

 

EEG – Electroencephalography. Involves hooking a child up to sensors to measure their brainwaves. Often used to track seizures.

ECG/EKG – Electrocardiogram. Involves attaching sensors to the trunk (sometimes including legs) to take a tracing of the electrical activity of the heart.

Echo – echocardiogram – an ultrasound of the heart, typically looking at structure.

MRI – magnetic resonance imaging is a test that uses a magnetic field and pulses of radio wave energy to make pictures of organs and structures inside the body. In many cases MRI gives different information about structures in the body than can be seen with an X-ray, ultrasound, or computed tomography (CT) scan. MRI also may show problems that cannot be seen with other imaging methods

CT – computed tomography uses X-rays to make detailed pictures of structures inside of the body, In some cases, a dye called contrast material may be used. The dye makes structures and organs easier to see on the CT pictures.

Xray – radiograph looking at bones

Types of cephalic (brain/skull) conditions:

Anencephaly: neural tube defect that occurs when the head end of the neural tube fails to close, usually between the 23rd and 26th days of pregnancy, resulting in the absence of a major portion of the brain, skull and scalp. Infants with this disorder are born without a forebrain. The remaining brain tissue is often exposed, not covered by bone or skin. These infants are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with some brainstem, the lack of cerebrum permanently rules out the possibility of even gaining consciousness. Approximately 1000 to 2000 American babies are born with anencephaly each year, more often in females than males, and is one of the most common disorders of the fetal central nervous systems.

Colpocephaly: an abnormal enlargement of the occipital horns, the rear portion of the ventricles of the brain. This enlargement occurs when there is an underdevelopment of lack of thickening of the white matter in the posterior cerebrum. Colpocephaly is characterized by microcephaly, abnormally small head, and limited cognitive function. Onset generally occurs between the second and sixth months of pregnancy, and often misdiagnosed as hydrocephalus.

Holoprosencephaly: characterized by the failure of the prosencephalon (embryo’s forebrain) to develop. During the fifth and sixth weeks of pregnancy, the normal development of the forebrain and face takes place. In HPE, there is a failure of the forebrain to divide in to left and right hemispheres, causing defects in the development of the face and in brain structure and function. There are varying degrees of HPE: alobar, the most serious form in which the brain fails to separate at all; semilobar, in which the hemispheres slightly separate; and lobar is the least severe where the brain is quite nearly normal. Some facial defects range from cyclopia (one eye) to the most common cleft lip.

Hydranencephaly: cerebral hemispheres are absent and replaced by sacs filed with cerebrospinal fluid

Iniencephaly: combines extreme retroflexion (backward bending) of the head with severe defects of the spine. The infant tends to present short, with a disproportionately large head. Diagnosis is immediate at birth as the face is flexed upward, with the skin of the face connected directly to the skin of the chest and the scalp to the skin of the back; the neck is generally absent. Most individuals with iniencephaly also have anencephaly, cephaloceled (protruding cranial contents from skull), hydrocephalus, cyclopsis, absent mandible (lower jaw bone), cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, and gastrointestinal malformation. Most common among females.

Lissencephaly: characterized by microcephaly and the lack of normal convolutions (folds) in the brain, thus lissencephaly means “smooth brain”. Symptoms may include unusual facial appearance, difficulty swallowing, failure to thrive, and severe psychomotor delays, with anomalies of appendages. Developmental progress is varied dependent upon severity.

Megalencephaly: also called macrencephaly, is a condition in which there is an abnormally large, heavy ,and usually malfunctioning brain. This condition affects males most often, and presents itself either at birth or early years.

Microcephaly: is the existence of a smaller than average head circumference, stemming from a wide variety of conditions that cause abnormal growth of the brain, or chromosomal abnormalities. Despite the small head circumference, the face continues to grow, thus this condition becomes more apparent as the child grows.

Porencephaly: the existence of cysts or cavities in the cerebral hemisphere., usually the remnants of destructive lesions but sometimes the result of abnormal development; occurring either before or after birth.

Schizencephaly: characterized by abnormal slits, or clefts, in the cerebral hemispheres; and is a form of porencephaly. Bilateral clefts, slits on both sides, present with developmental delays. Unilateral clefts, slits on only one side, may be affected primarily on one side of the body. Individuals oftentimes also display signs of microcephaly, hemiparesis (one-sided paralysis), quadriparesis (all four extremities affected with paralysis), hydrocephalus, seizures, and reduced muscle tone (hypotonia).

Acephaly: is complete absence of the head, generally a parasitic twin attached to an otherwise intact fetus.

Exencephaly: the brain develops outside the skull, generally displayed as anencephaly in early pregnancy

Macrocephaly: larger than average head circumference, from enlarged brain or hydrocephalus in many cases.

Micrencephaly: small brain

Octocephaly: total or virtual absence of the lower jaw, often displayed with holoprosencephaly, and is considered lethal as it severely compromises the fetal airway.

Brachycephaly: premature suture fusion of the top and sides of the skull, causing a shortened front-to-back diameter of the skull

Oxycephaly: premature closer of all sutures, the most severe of deformities of the skull classified as craniostenoses.

Plagiocephaly: premature fusion of one side of the skull; characterized by an asymmetrical distortion (flattening of one side) and is a common finding at birth and may be the result of brain malformation, a restrictive intrauterine environment, or torticollis (a spasm or tightening of neck muscles).

Scaphocephaly: premature fusion that displays as a long, narrow head

Trigonocephaly: premature fusion that displays as a triangular forehead and closely set eyes

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