CHARGE 101

An Introduction to CHARGE Syndrome

4/2/08

CHARGE 101

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What is CHARGE?
• Recognizable pattern of birth defects • Occurs in about 1 in every 10,000 births • First named in 1981
– Letters stand for major diagnostic criteria

• Gene discovered in 2005
– Gene mutation, not hereditary – No known cause

• Complex syndrome that varies from child to child
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C = Coloboma of the Eye
• Eye does not form properly in utero (“cleft” of the eye) • Causes vision loss
– Severity depends on position

• Frequency is 80%–90% • May also be accompanied by:
– Microphthalmia (small eye) – Anophthalmia (missing eye)
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Effects on Katie
• Left eye:
– Coloboma in optic nerve – Blind, but thought to detect light and motion – Smaller than right eye

• Right eye:
– Coloboma on side; doesn’t affect vision – Moderately nearsighted

• Functional vision:
– – – –
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Very good; uses vision extremely well Likely has depth perception issues Can see pretty well close up and within 3–4 feet Has eyeglasses, but refuses to wear them
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H = Heart Defects
• Can be any type • Many are complex • Frequency is 75%

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Effects on Katie
• Born with a PDA (patent ductus arteriosis)
– Most close shortly after birth – If not closed by age 3, usually require surgery

• Katie’s surgically closed in August 2005
– By heart catheterization – Coil inserted through small incision in upper thigh – Guided to heart and dropped into hole

• No long-term effects
– Monitored annually by cardiology
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A = Atresia of the Choanae
• Choanae (passages that go from back of the nose to the throat) are narrow (stenosis) or blocked (atresia)
– Can be unilateral (one-sided) or bilateral (two-sided) – Can be bony or membranous – Requires surgery (sometimes multiple) to fix
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Effects on Katie
• Katie has narrow nasal passages
– Doesn’t affect her breathing – Didn’t require surgery – Can sometimes lead to frequent sinus infections, especially in fall and winter
• Usually misses a few days of school a year due to severe sinus infections • Doesn’t like to wear her cochlear implant when she has a sinus infection
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R = Retardation of Growth and/or Development
• Growth:
– 70% have short stature – 15% have growth hormone deficiency

• Development:
– Most have developmental delays related to early hospitalizations and complex sensory losses – Does NOT mean mental retardation, although some children with CHARGE do have cognitive delays
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Effects on Katie
• Growth:
– For chronological age (6), Katie is at 3rd percentile for weight and below the growth chart for height – For bone age (4 yrs 9 mos), Katie is at 50th percentile for weight and 20th percentile for height – Thyroid function and growth hormone levels are normal

• Development:
– Delayed in all areas, some more than others 4/2/08 CHARGE 101 –
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G = Genital and/or Urinary Abnormalities
• 50% of males have a small penis and/or undescended testes • 25% of females have small labia and/or a small or missing uterus • 90% require hormone intervention to reach puberty • 40% have kidney abnormalities
– Small, missing, or misplaced kidney – Urinary reflux
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Effects on Katie
• Katie does not have genital or kidney abnormalities • Hormone levels are monitored annually by endocrinology

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E = Ear Abnormalities
• Over 50% have misshaped and/or “floppy” outer ears • 90% have malformed cochlea
– Causes hearing loss

• 90% have small or absent semicircular canals
– Causes balance problems
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Effects on Katie
• Ears are “floppy”
– Makes it difficult to wear glasses, behind-the-ear cochlear implant processor

• Cochlea is underdeveloped
– 1.5 turns instead of normal 2.5 turns – Profound deafness in both ears – Received cochlear implant in July 2003
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• Progress has been very slow (common in CHARGE 101 CHARGE)

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Effects on Katie (cont.)
• Semicircular canals are absent
– Balance is difficult and requires much effort – Walked at 4 yrs 3 mos – Walks pretty well independently when inside, especially in familiar surroundings, but walking outside and on uneven surfaces is still difficult – Takes hippotherapy (horseback riding) to help with balance
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Other Major Features of CHARGE
• Cranial nerve abnormalities
– 90%–100% have missing or decreased sense of smell – 70%–90% have swallowing difficulties and aspiration (liquids and food going into lungs)
• Majority require feeding tubes, at least temporarily but many for life

– 40% have facial palsy
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Effects on Katie
• Sense of smell is unknown
– Suspect it is likely at least decreased and possibly missing

• No swallowing issues
– Has always been an oral eater

• No facial palsy

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Other Characteristics of CHARGE
• 20% have cleft lip and/or cleft palate • 15%–20% have TE fistula
– Atresia of the esophagus

• Typical CHARGE face
– – – – – –
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Square face with broad, prominent forehead Arched eyebrows Large eyes Prominent nasal bridge Flat midface Small mouth
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Effects on Katie
• Had bilateral cleft lip and palate
– Lip repaired at 5 mos – Palate repaired at 9 mos

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Effects on Katie (cont.)
• Did not have a TE fistula • Has some features of typical CHARGE face, but not as noticeable as some kids

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Other Physical Characteristics
• 90% have hypotonia (low muscle tone) • Sloping shoulders are common • Scoliosis is common in older children
– Usually due to low muscle tone

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Effects on Katie
• Katie has low muscle tone
– Has received physical therapy since she was 10 mos old – Sat up independently when she was 1 – Needs stable seating – Fatigues easily when sitting or standing for extended periods, needs breaks

• Spine curvature is normal for now
– Monitored annually by orthopedics
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Neurological Impact of CHARGE
• Most children have sensory processing disorder (SPD) • A large percentage have problems with executive functioning
– Area of brain that controls things like motor planning, decision making, etc.

• Less than 10% have seizures • Sleep issues are very common
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Effects on Katie
• Katie has SPD
– Doesn’t like messy activities, like finger painting
• Has improved some on this over time, though

– Doesn’t like anything on her head
• Doesn’t like to wear hats, hair barrettes, etc. (though improving!) • Probably due in part to multiple head/facial surgeries as an infant • Makes wearing her glasses and cochlear implant difficult

– Likes a lot of movement and deep pressure
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• Enjoys swinging, hanging upside down • Deep pressure massage 101 joint compression can CHARGE and

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Effects on Katie (cont.)
• Has some trouble with executive functioning at times
– Understands cause-and-effect, but has trouble initiating it – Needs extra time to think and process information before completing activities – Needs activities broken down into smaller tasks – Probably one reason why expressive language is difficult for her
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Effects on Katie (cont.)
• Sometimes exhibits seizure-like activity
– Staring, rapid blinking, tics – Has had two EEGs
• Neither showed signs of true seizures, but did show frequent epileptic activity in the brain • Symptoms seem to be worse in the winter

• Has sleep issues
– Requires little sleep – Has been on sleep medication for over 2 years – Used to wake frequently after 3–4 hours of sleep
• Much improved on sleep medication
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CHARGE Behavior
• Perseverative (repetitive) behavior in younger children • Obsessive compulsive behavior (OCD) in older individuals • Frequency is greater than 50%

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Effects on Katie
• Sometimes engages in self-stimming
– Lies on back and kicks legs, flaps arms – Doesn’t do this as much as she used to

• Extremely routine oriented
– Remembers routines and expects to stick to them – Transitions can be difficult, especially if out of the normal routine

• OCD behaviors getting more obvious with age
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– Is on a very low dosage of Zoloft for OCD and

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Communication
• Total communication has been found to work most effectively with kids with CHARGE
– – – – –
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Pictures (real, PECS) Gestures Sign language Voice Objects
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Effects on Katie
• Receptive language:
– Uses a calendar system and picture system well – Making good progress with receptive sign

• Expressive language:
– Uses mostly gestures and pictures – Vocalizes some, though no words – Uses 5-10 signs to request things
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CHARGE Personality
• Persistent • Stubborn • Independent • Great memory • Loving • Joyful

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Effects on Katie
• All of the above!!!

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• "I know of no identified sub-group within the population of people with multisensory impairment who have so many medical problems, of such complexity and severity, and with so many hidden or delayed difficulties, and yet no sub-group has shown such a consistent ability to rise triumphantly above these problems."
– Educational Specialist
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• David Brown
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• CA Deaf-Blind Services