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CHARGE Syndrome Characteristics Information
on this page: Information
on other linked web pages - CHARGE Syndrome: An Overview By Pam Ryan
In this webcast, Pamela Ryan, Perkins School Psychologist, offers an overview of the characteristic features of CHARGE Syndrome and discusses the very diverse ways these features may manifest themselves in children. She talks about some of the early medical complications that many children face and how these issues affect development and learning.
- CHARGE Syndrome: Teaching Strategies for Children By Sharon Stelzer
Sharon Stelzer, a long term teacher in the Perkins Deafblind Program, discusses the impact of CHARGE Syndrome upon the student, and strategies a teacher can implement to create a good learning environment. Establishing schedules and structure as well as offering the student opportunities to make choices are stressed. Sharon also talks about the benefits of helping students with CHARGE Syndrome learn the art of negotiations.
- CHARGE Syndrome: The Impact on Communication and Learning By Martha Majors
This very insightful webcast explains the physical, sensory and neurological issues shared by many children with CHARGE and how these issues can affect their success in school. Martha Majors, who has served many children with CHARGE in the Deafblind Program at Perkins, offers guidance for educators in developing an effective educational program that will improve the emotional wellbeing and success in learning for students with this syndrome.
- Vestibular loss (inner
ear balance)
WHAT IS CHARGE? The
name CHARGE was chosen because it is an easy term to remember. It is an acronym,
which means that each letter stands for one or more of the major characteristics.
It is no longer true that you have to have 4 or 5 of the 6 characteristics described
by the acronym to be CHARGE. A more accurate table of major and minor criteria
has been described in the pediatric literature. Syndrome
vs. Association: In my mind, CHARGE is a Syndrome, which means a recognizable
pattern of malformations. A few of my genetics colleagues think it is an Association,
which means that the malformations occur together more often than could be explained
by chance. For the general public, which term is used simply does not matter.
The cause is not yet known though some geneticists suspect
it may be due to a tiny chromosome deletion or to an altered or missing gene.
This is a complex condition involving eyes, ears, swallowing, facial movement,
heart, growth, pubertal development and other physical problems. What makes this
syndrome so difficult to develop programs for is that each physical finding may
be absent to present in a mild, moderate or severe form. Rarely do two children
have the exact same constellation of features. Back to
top
FINDINGS DESCRIBED BY THE
ACRONYM C - Coloboma of the eye
A cleft in the bottom
of the eyeball can involve the iris (colored part of the eye), retina (inside
layer of the eye) or the disc (the visible end of the nerve from the eye to the
brain.) While an iris coloboma does not interfere with vision per se, it can allow
more light to enter the eye causing glare. A retinal coloboma causes a field defect
in the upper visual field so that the child may not be aware of what is above
him/her. If the coloboma involves the macula, which controls central vision or
involves the nerve, vision may be mildly to severely blurry. Microphthalmos
(small eyeball) or even anophthalmos (no eyeball) can be part of the coloboma
spectrum. C - Cranial nerve problems
Cranial nerves
supply the functions of the head and neck. Most of the cranial nerves can be involved
in CHARGE. - I the olfactory nerve controls the sense of smell. Lack
of smell can have a major impact on feeding and, later, on socialization.
-
II the ocular nerve is usually involved only if a coloboma involves the disc.
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III, IV, VI nerves which control eye muscle movement. Problems are more often
related to visual impairment than to involvement of these nerves, but occasionally
one or more of these nerves is weak.
- VII - facial palsy is usually one-sided
and present at birth. Occasionally, both sides of the face cannot move so the
child cannot show by facial expression whether he/she is happy, sad, upset, etc.
Facial asymmetry without facial palsy can also be seen.
- VIII the nerve
to the inner ear may possibly also be involved separate from malformations of
the ear itself.
- IX and X the major early problems such as, poor or
uncoordinated swallowing with gastroesophageal reflux and aspiration pneumonia.
These tend to improve over weeks, months or years.
- XI control of the
muscles of the neck, which turn the head, may be involved. This can lead to "torticollis"
(or tightness of one neck muscle) or a webbed neck if neck movement is not active
prior to birth.
- XII occasional problems with tongue movements.
H
- Heart malformations
Any of the common types may be involved but tend to
involve structures at the outlet of the heart. The trachea (windpipe) can be compressed
by abnormal vessels which go across or around it. A Atresia
(absence) or stenosis (narrowing) of the choanae
The choanae are passages
in the back of the nose which need to open up during embryonic development. If
they fail to open, the newborn baby can have severe problems breathing and be
in danger of dying. It is therefore important to put tubes (stents) in to keep
these passages open. R - Retardation of growth and/or development
Height and weight are usually normal at birth. Loss of growth milestones in the
first two years is usually associated with failure to thrive due to swallowing
problems, heart disease, hospitalizations and recurrent illnesses but growth hormone
deficiency may be present. Developmental delay is due
to many causes, the most important of which are vision and hearing loss combined
with inner ear balance problems. Acute medical illnesses and hospitalizations
also contribute to the delays. Mental processing is often normal. G
Genitourinary anomalies
Male genital anomalies include small penis, hypospadias,
or undescended testes.
Female genital anomalies include small labia.
Hormonal
control from the brain may account for the genital anomalies and delayed or absent
puberty.
Genitourinary problems may also involve malformations of the kidneys
and ureters (tubes to the bladder). Delayed toilet training is common. E
- Ears anomalies: outer, middle, inner
Mixed conductive and sensorineural
hearing loss +/- vestibular (balance) problems are
common.
Acute and chronic middle ear infections are common.
Canals may
be narrow.
Malformations of the middle ear bones may be present.
Malformations
of the inner ear vary in severity.
Absent or malformation of semi-circular
canals necessary for balance. More on balance, see Usher
Syndrome information. Back to top
OTHER FINDINGS - Hypotonia particularly of the
upper body
- Constipation
- Floppy cartilage in ears and trachea
- TE
(tracheoesophageal) fistula is an abnormal connection between the windpipe and
the swallowing tube.
- Esophageal atresia means the esophagus, which connects
the mouth to the stomach, is not open.
- Cleft lip/palate
- Occasional
abnormalities of the limb bones
- DiGeorge sequence with poor immune response
- Chronic
sinusitis
- High pain tolerance
- Stubborn and single-minded
- May
have problems being sedated with chloral hydrate
- Body temperatures may
be low especially at night
Back to top
Helpful web sites: CHARGE
Syndrome Foundation Home Page - This foundation is run by parents supported
by professionals. One of the links is "Join the CHARGE Syndrome Listserv" which
is a very active place to get questions answered. The "threads" of various topics
are also archived and ready for searching.
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