MN DeafBlind



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Information on other linked web pages

  •  CHARGE Syndrome: An Overview By Pam RyanOpen in new window. Link to a different web site.
    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 StelzerOpen in new window. Link to a different web site.
    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 MajorsOpen in new window. Link to a different web site.
    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.

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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.
  • 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.

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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

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Helpful web sites:

CHARGE Syndrome Foundation Home PageOpen in new window. Link to a different web site. - 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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