Conditions:
Tetrasomy 18p (T18p): is a relatively rare condition. Less than 100
cases have been reported in the literature. Individuals with Tetrasomy 18p have
47 chromosomes instead of 46. The extra chromosome is made up of two additional
copies of the short arm of chromosome 18.
Spinia bifida: is an opening in the spinal cord that occurs
early in the first trimester of pregnancy.
To do with the brain:
Hydrocephalus: is extra fluid in the brain
Ventriculoperitoneal
Shunt (VP Shunt): drains excess fluid from
a cerebral ventricle in the brain into the belly cavity
Arnold Chiari
malformation: is a structural defect
in the cerebellum, the part of the brain that controls balance. The lower rear
of the skull is smaller than normal, and thus the cerebellum and brainstem can
be pushed downward. The resulting pressure on the cerebellum can block the flow
of cerebrospinal fluid (the liquid that surrounds and protects the brain and
spinal cord) and can cause a range of symptoms including dizziness, muscle
weakness, numbness, vision problems, headache, and problems with balance and
coordination
To do with feeding/GI:
Gastrostomy Tube
(G-tube): is a tube inserted
through the abdomen that delivers food directly to the stomach.
GERD (Gastroesophageal
Reflux Disease): is when the liquid content of the stomach backs
up or refluxes into the esophagus. The liquid can aggravate and damage the
lining of the esophagus
Nissen
fundoplication: is a surgery where the
upper curve of the stomach is wrapped around the esophagus and sewn into place
to strengthen the valve between the esophagus and stomach
To do with breathing:
Apnea: is a period of time during which breathing stops or is markedly
reduced.
· Obstructive apnea (OA): is when air cannot flow into or out of the
person's nose or mouth although efforts to breathe continue due, the airway
collapses completely allowing no air to pass through during sleep causing the
individual to snort and gasp for breath
· Hypopnea (H): is breathing that is shallower or
slower than normal. This is a partial obstruction, the airway collapses partial
it allows some air to pass through, however much smaller and it is accompanied
by a arousal from sleep (either a complete arousal where the person is awake or
an arousal where they simply come out of REM sleep) or a desaturation of oxygen
for 20 seconds of more.
· Mixed apnea (MA): is a combination
of central and obstructive apnea and is seen particularly in infants or young children
who have abnormal control of breathing. Mixed apnea may occur when a child is
awake or asleep
· Central apnea (CA): occurs when the brain
fails to send the appropriate signals to the breathing muscles to initiate
respirations
· Hypoxemia (Oxygen Desaturation): occur when
oxygen in blood drops, meaning an abnormally low partial pressure of oxygen,
content of oxygen or percent saturation of hemoglobin with oxygen, in
combination with each other or individually (I refer to this as destat throughout
my blog)
Polysomnography: (sleep study) is a comprehensive recording of
the biophysiological changes that occur during sleep by monitoring many body
functions including brain (EEG), eye movements (EOG), muscle activity or
skeletal muscle activation (EMG), heart rhythm (ECG), the breathing functions
respiratory airflow and respiratory effort indicators and peripheral pulse
oximetry during sleep.
Respiratory Disturbance
Index (RDI): is one very important
measure of the severity of the sleep disorder. The RDI represents how many
times per hour breathing stops or becomes very shallow. This index is important
because it is often associated with disruption of sleep and dangerous drops in
blood oxygen levels.
Arousal: abrupt transition from a deeper stage of sleep
to a shallower stage
Continuous positive
airway pressure (CPAP): is a treatment that uses mild air pressure to
keep the airways open.
Hypoventalation: Abnormally slow and shallow respiration,
resulting in an increased level of carbon dioxide in the blood.
Tracheostomy: is a surgically created opening in the neck
leading directly to the trachea or the breathing tube. It is kept
open with a hollow tube called a tracheostomy tube (or
trach as I refer to it throughout this blog).
Tongue/lip adhesion
(TLA): is a surgery where
the tongue is pulled forward and sewn to the inside of the patient’s lip.
To do with the eyes:
Esotropic Strabismus: is when your eyes turn inward
Pediatric eye muscle
surgery: is performed to weaken,
strengthen, or reposition any of the small muscles on the surface of the eye
that move the eyeball in all directions.
To do with the kidneys:
Vesicoureteral reflux: is when urine flows from the bladder up
towards the kidneys
To do with Orthopedic:
Clubfoot,
bilateral: is a birth defect of the
foot. The foot normally is pointing downwards and turned inwards.
Tendon release: is a surgical procedure where clip the tendon at
the back of the foot to length it and allow the heel of the foot to drop
To do with school:
Individualized Education
Program (IEP): An IEP defines the
individualized objectives of a child who has been found with a disability, as
defined by federal regulations. The IEP is intended to help children reach
educational goals more easily than they otherwise would. In all cases the IEP
must be tailored to the individual student's needs as identified by the IEP
evaluation process, and must especially help teachers and related service
providers (such as paraprofessional educators) understand the student's
disability and how the disability affects the learning process.
Assistive devices:
Manual Wheelchair: is assistive technology that can be used
by a person who relies on a wheelchair for mobility. A standing frame provides
alternative positioning to sitting in a wheelchair by supporting the person in
the standing position.
Gait Trainer: is a wheeled device that assists a person
who is unable to walk independently to learn or relearn to walk safely and
efficiently as part of gait training. Gait trainers are intended for children
or adults with physical disabilities, to provide the opportunity to improve
walking ability. A gait trainer offers both unweighting support and postural
alignment to enable gait practice. It functions as a support walker and
provides more assistance for balance and weight-bearing, than does a
traditional rollator walker, or a walker with platform attachments. It also
provides opportunities to stand and to bear weight in a safe, supported
position.
Stander: is assistive technology that can be
used by a person who relies on a wheelchair for mobility. A standing frame
provides alternative positioning to sitting in a wheelchair by supporting the
person in the standing position. It is also used to strength leg muscles
in those with low tone and weaken muscles.
