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My paper on Charge - Melissa Mangipano USA
In 1979, Dr. B.D. Hall wrote a paper about children born with choanal atresia. This is the first known description of CHARGE. During that time, another doctor had observed children with choanal atresia along with coloboma, congenital heart defect and hearing loss. The term CHARGE association was coined by Dr. Pagon, and he intended to emphasize that a cluster of associated malformations occurred together. An association is a set of apparently random signs occurring together. In CHARGE, the signs are caused by a genetic anomaly, thus the name was changed to CHARGE Syndrome in 1981.

CHARGE syndrome is a genetic disorder with multiple physical, sensory, and behavioral anomalies. Children with CHARGE typically undergo 10 surgeries before age 3. Although early mortality rates have been 10% to 20%, survival rates have improved with cardiac treatment. Individuals with CHARGE may have deficits in every sensory modality and frequently exhibit challenging behaviors. CHARGE is presently the leading genetic cause of deaf-blindness at birth in the United States.

CHARGE occurs during fetal development, therefore is frequently diagnosed in the neonatal or prenatal period because of the presence of multiple congenital anomalies and dysmorphic features. This syndrome is exhibits autosomal dominant inheritance, and expression is not sex-linked, males and females are affected with equal frequency. The causes seem to be due to mutations of the CHD7 gene (58-71%), although case reports exist of individuals who meet the criteria for the clinical diagnosis of CHARGE syndrome and who have a variety of cytogenetic abnormalities, including 22q11.2 deletions, 14q22-q24.3 inverted duplications, and 9p-, and single gene mutations (including SEMA3E gene mutations). A developmental defect involving the midline structures of the body occurs, specifically affecting the craniofacial structures. This defect is attributed to arrest in embryologic differentiation in the second month of gestation, when the organs affected are in the formative stages. The prechordal mesoderm is necessary for the development of the mid face, and it exerts an inductive role on the subsequent development of the prosencephalon, the forepart of the brain. The mechanisms suggested are deficiency in migration of cervical neural crest cells into the derivatives of the pharyngeal pouches and arches, deficiency of mesoderm formation, and defective interaction between neural crest cells and mesoderm resulting in defects of blastogenesis and hence the typical phenotype. The function of CHD7 during embryologic development remains unclear.

Clinical signs of this syndrome are quite complex. The cardinal features of coloboma, heart anomalies, choanal atresia, retardation of growth and development, and genital and ear anomalies clinically define CHARGE syndrome. No single feature is universally present or sufficient for diagnosis, and the severity is variable. Other frequently occurring features of significance include: characteristic face and hand dysmorphology, hypotonia, urinary tract anomalies, orofacial clefting, deafness, and dysphagia and tracheoesophageal anomalies. The clinical diagnosis requires the presence of at least 3 cardinal features, or 2 cardinal features plus at least 3 associated minor characteristics. Detection can be as early as prenatal period. During this period signs are: intrauterine growth retardation, congenital heart defects, orofacial clefting, and poor fetal movement. Signs in neonatal period are: small for gestational age, dysmorphic features, respiratory distress/cyanosis, swallowing/feeding difficulty, failed newborn screening, and inability to pass a nasogastric tube. Infantile and childhood presentation signs are: failure to thrive, developmental delay, feeding difficulty, and poor growth. The cardinal defining signs of CHARGE syndrome, in more detail, are:

Coloboma of the eye, which is usually bilateral, affects the posterior segment of the eye. Microphthalmia and nystagmus are consistently associated with severe coloboma. If the fovea is not involved, then vision is not affected. Retinal detachment is a frequent complication.

Heart anomalies occur in 85% of CHARGE syndrome patients. Common problems are septal defects (interventricular and interatrial) and conotruncal malformation (aortic valve stenosis, aortic coarctation, and interrupted aortic arch). Although, all variations of complex heart anomalies are reported.

Choanal atresia/stenosis occurs in 57%. Choanal atresia usually presents in the newborn period with respiratory distress and is a threat to life due to infants not being able to establish mouth breathing. A history of polyhydramnios in pregnancy is usually present. Presence of Choanal atresia usually necessitates multiple complex surgeries for correction. Most children with bilateral atresia do not survive beyond the first year of life.

Growth Retardation or "failure to thrive" has an 80% occurrence. Growth failure is noticeable in the first 6 months and is usually due to growth hormone deficiency and gonadotrophin deficiency.

Delayed mental development is typically present and is often characterized as mild to moderate. Patients with severe coloboma and inner ear problems are particularly affected.

Genital hypoplasia occurs in males (70%) and females (30%). Males will have micropenis and could have complete absence of testis. Females have labial hypoplasia that is difficult to identify in the neonatal period.

Ear malformations are found in all of these patients. The ear is small, simple, low set, and/or cup shaped with a protruding helix that may be unraveled. Tend to be on the side of the facial palsy. Deafness is usually bilateral and of mixed type. Abnormalities include partial or complete semicircular canal hypoplasia, vestibular or cochlear defects (sensorineural deafness), and ossicular malformations, stapedius tendon abnormality, or serous effusion (all contributing to conductive hearing loss).

Associated minor characteristics of CHARGE syndrome include: neurologic anomalies (i.e. cranial nerve palsy, microcephaly, and neonatal brainstem dysfunction), dysmorphic features (i.e. asymmetric square face, malar flattening, unilateral facial nerve paralysis, and micrognathia), renal problems, laryngeal clefts, laryngomalacia, esophageal atresia, tracheoesophageal fistula, scoliosis, and orofacial clefting. No single feature is consistently present in all CHARGE cases or sufficient for a diagnosis of the syndrome.

There are many other diseases that "look" like CHARGE syndrome. Some diseases that are commonly misdiagnosed in place of CHARGE or vice versa include 22q deletion syndrome (DiGeorge and VCFS), Kabuki syndrome, VATER/VACTERL, chromosome abnormalities, retinoic embryopathy, and PAX2 mutations.

Children with CHARGE have been shown to have a 70% survival rate to five years of life. The death rate is highest during the first year of life. Combination of choral atresia with either congenital heart defects or trachea-esophageal is usually cause of the high mortality rate. CHARGE patients have a high mortality rate due to hidden structural abnormalities of the larynx and pharynx with associated motor coordination. This causes difficulty with intubation and problems after extubation. Therefore, a number of procedures are usually done at one time, limiting the number of anesthetics.

Research is ongoing, with the latest breakthrough being in 2004, when the actual gene for CHARGE was found. No cure is known and treatment consists of various therapies conducted throughout the life of the patient. The types of treatments and therapies are determined on which symptoms are present. Possible therapists involved with the patient on a weekly basis are: orientation & mobility specialist, physical therapist, speech therapist, vision therapist, feeding teams, and occupational therapist. Patients also keep regular appointments with cardiologists, endocrinologists, ENT's, and multiple other specialists depending on the specific needs of the child. Through early intervention, many of these children make significant progress. They attend school like "normal" children in specialized programs tailored to their educational needs and care. Most, if not all, will need special care for the rest of their lives.

Nursing care related to this syndrome would include patient/parent teaching of special care to be performed at home such as tube feedings, possible communication techniques, medication administration, tracheostomy care, and providing information on resources obtainable for specialized therapies. Other nursing care would be specific to the medical treatments being provided at the time.

Through researching this syndrome, I have learned a great deal about all of the body systems involved, fetal development and genetic mutation. Each one is delicate and essential to "normal" life. I have also, through knowing a family with a child with CHARGE syndrome, learned about the difficulty of caring for a special needs child. The medical care that is required, literally takes over the parents' lives and financial hardship is inevitable. The current goals of the CHARGE Foundation are to spread awareness of this rare condition, help fund research in hopes of finding a cure, and to alleviate some of the financial burden on the families who have a child with this syndrome.

ENTs - Ear Nose and Throat Specialists


An Excellent Paper written about Charge Syndrome by Melissa Mangipano USA

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