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CHARGE Syndrome By Terri May

CHARGE Syndrome By Terri May. CHARGE Syndrome. What is it? What is the cause? How does the syndrome affect the child, parents and teachers?. What is CHARGE?. Each letter in the name is a representation for a manifestation of the syndrome. C – Colobomas of eyes H – Heart defects

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CHARGE Syndrome By Terri May

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  1. CHARGE SyndromeBy Terri May

  2. CHARGE Syndrome • What is it? • What is the cause? • How does the syndrome affect the child, parents and teachers?

  3. What is CHARGE? Each letter in the name is a representation for a manifestation of the syndrome. • C – Colobomas of eyes • H – Heart defects • A – Atresia of chronae • R – Retardation of growth and development • G – Genital hypoplasia • E - Ears

  4. What is it? • Charge is a syndrome that is due to a genetic abnormality. The syndrome is whole body and occurs during early gestation. • The name derives from the first letter of the primary manifestations of the syndrome. • The syndrome affects all aspects of the child.

  5. What is CHARGE? • Infants with CHARGE syndrome generally have difficulty with feeding and most of those affected have some form of mental retardation. • About half die during the first year of life from respiratory insufficiency, central nervous system (CNS) malformations, and bilateral choanal atresia. • CHARGE syndrome affects males more seriously than females, resulting in a higher number of females who survive. • The syndrome has not been reported more often in any particular race or geographic area.

  6. Colobomas of eyes • Colobomas are gaps in part of the structures of the eye. • The colobomas can occur in a range of areas and be small or large. • Effects can be quite mild or cause more visual problems if the retina is affected.

  7. Colobomas of the eyes

  8. Heart Defects • A variety of different heart defects are associated with CHARGE. • Some are more serious than others and require surgery. • Some that have been associated with CHARGE are: • Double aortic arch • Patent Ductus Arteriosus (PDA) • Dextrocardia • Tetralogy of Fallot

  9. PDA

  10. Tetralogy of Fallot • Has four key features • A ventricular septal defect (a hole between the ventricles) • Many levels of obstruction from the right ventricle to the lungs (pulmonary stenosis) • Aorta (major artery from the heart to the body) lies directly over the ventricular septal defect • Right ventricle develops thickened muscle

  11. Atresia of chronae • The chronae are the openings at the back of the nasal passages. • In CHARGE these passages may be closed. This can be unilateral or bilateral. • This can be corrected with surgery if deemed necessary.

  12. Atresia of the Chronae

  13. Retardation of Growth and Development • Those affected by CHARGE will typically be small in stature. • Chronological age will not match the bone age. • Chronological age =18 • Bone age = 11 • May also have developmental delays.

  14. Genital Abnormalities • Boys may have a micropenis or undescended testicles. • Girls may have small labia and small or missing uterus. • Both boys and girls will have delays in puberty.

  15. Ears • The “classic” charge ear is malformed and curls forward. The earlobe will typically be missing on either one or both ears. • Ears are low set on the side of the head. • Children will have a hearing loss of varying degrees. The loss is typically both conductive and sensorineural.

  16. CHARGE Ears

  17. Associated Anomalies • Abnormal gait • Cleft lip/palate • Dental anomalies • Epilepsy • Facial asymmetry • Gastro-Oesophageal Reflux • Hypotonia • Children with CHARGE often are also diagnosed as OCD and ADHD. • Lack of executive function.

  18. Facial Asymmetry

  19. What causes it? • There is no definite cause known for CHARGE. Some research has shown that the abnormalities are due to a Chromosomal defect. • Research has also shown that children with CHARGE do have some chromosomal changes or abnormities.

  20. Effects for the child • Difficulty with communication due to deafness and inability to voice • Difficult to make friends • World/interactions are limited to those who can sign. Likely family and teachers. • People unfamiliar with the child will make “snap” judgments about child and behavior that is exhibited at times.

  21. Effects for parents • Early life – Medical issues • Multiple surgeries for cleft lip, ears, atresia of chronae, trach, and g-tube. • Later in life – adolescence – Behavior issues • Trying to find the right combination of medications to deal with ADHD, OCD, and impulsivity. • Understanding the defiance • Due to lack of communication student is unable to communicate what they are upset about or what they are wanting parents to do for them. • This often will lead to aggressive behavior stemming from frustration.

  22. Effects for the teachers • Dealing with the obsessions and unpredictability due to lack of executive function in the brain. • Only tolerates activity for a short period of time. Need to be focused in instruction. • Lack of consistency in interests. • What is a positive reinforcer today, may or may not work tomorrow. • Does not respond well to being told “NO” • Must think of new and creative ways to redirect the student.

  23. References • www.chargesyndrome.org/about-charge.asp • American Journal of Genetics • www.dpo.uab.edu/~birmie/charge.htm • www.healthline.com/galecontent/charge-syndrome

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