CHARGE syndrome is characterized by a variable combination of multiple congenital abnormalities that affect many areas of the body. Affected individuals usually have several major characteristics or a combination of major and minor characteristics. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can make it difficult to learn without appropriate instructional accommodations and modifications in the educational setting.
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 (Davenport, Hefner, & Mitchell, 1986). The term CHARGE association was coined by Dr.
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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 (Lewis & Lowther, 2001). In CHARGE, the signs are caused by a genetic abnormality, thus the name was changed to CHARGE Syndrome (Sanlaville & Verloes, 2007). CHARGE syndrome is a genetic disorder with multiple physical, sensory, and behavioral irregularities. Children with CHARGE typically undergo 10 surgeries before age 3 (Blake & Davenport, 1998). 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 (Deuce, 2017).
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 (Davenport et al., 1986). This syndrome exhibits autosomal dominant inheritance, and expression is not sex-linked, males and females are affected with equal frequency (Blake & Davenport, 1998). The incidence of CHARGE syndrome is about one in every ten thousand births worldwide (Haibach & Lieberman, 2013). The causes seem to be due to mutations of the CHD7 gene on chromosome 8 (Hartshorne, Hefner, & Davenport, 2005). Clinical signs of this syndrome are quite complex. The key features of coloboma, heart anomalies, choanal atresia, retardation of growth and development, and genital and ear anomalies clinically define CHARGE syndrome (Sanlaville & Verloes, 2007). No single feature is universally present or sufficient for diagnosis, and the severity is variable.
The clinical diagnosis requires the presence of at least three key features, or two key features plus at least three associated minor characteristics (Hartshorne et al., 2005). 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 (Lewis & Lowther, 2001). 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 (Lewis & Lowther, 2001). The key defining signs of CHARGE syndrome, in more detail, are: coloboma of the eye, which is usually bilateral, affects the posterior segment of the eye. If the fovea is not involved, then vision is not affected. Retinal detachment is a frequent complication (Davenport et al., 1986).
Heart anomalies occur in about 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 (Davenport et al., 1986). Choanal atresia/stenosis occurs in approximately 60% of CHARGE syndrome patients. 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). 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 (Blake & Davenport, 1998).
Growth retardation or “failure to thrive” has around an 80% occurrence. Growth failure is noticeable in the first 6 months and is usually due to growth hormone deficiency (Blake & Davenport, 1998). 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 (Lewis & Lowther, 2001). 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 (Sanlaville & Verloes, 2007). 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. Deafness is usually bilateral and of mixed type (Sanlaville & Verloes, 2007). 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, flattened cheekbones, unilateral facial nerve paralysis, and micrognathia), renal problems, laryngeal clefts, laryngomalacia, esophageal atresia, tracheoesophageal fistula, scoliosis, and orofacial clefting (Davenport et al., 1986). Oftentimes, children with CHARGE syndrome will experience difficulties with motor planning and balance due to vision loss, damaged or missing vestibular organs, reduced somesthetic sensation, and musculoskeletal problems – low muscle tone, loose joints, poor posture, kyphosis, and knocked knees (Haibach & Lieberman, 2013). No single feature is consistently present in all CHARGE cases or sufficient for a diagnosis of the syndrome (CHARGE Syndrome Foundation, 2018).
Children with CHARGE syndrome can display a range of behaviors that are similar to those found in individuals with autism, attention deficit, obsessive-compulsive disorders, tic disorders, and deaf-blindness (Hartshorne et al., 2005). According to Hartshorne et al., (2005), “extreme preference for certain toys, people, food, etc., restricted range of interests and/or pre?occupation with one narrow interest, and significant difficulty in ability to make same age friendships” are three behaviors commonly found in children with CHARGE syndrome (p. 230). More significant behavioral difficulties are seen more often in children that are classified as deaf-blind compared to children that do not have dual sensory loss. Children with CHARGE syndrome will often engage in behavior to adapt to different situations and environments, and for self-stimulation and arousal (Hartshorne et al.
, 2005). 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 (CHARGE Syndrome Foundation, 2018). 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 (Blake & Davenport, 1998). Combination of choral atresia with either congenital heart defects or trachea-esophageal is usually the cause of the high mortality rate (Davenport et al., 1986). CHARGE patients have a high mortality rate due to hidden structural abnormalities of the larynx and pharynx with associated motor coordination (Blake & Davenport, 1998).
Most, if not all, will need special care for the rest of their lives. Although these children have many problems, they can survive and become healthy, happy citizens. Many of the structural abnormalities (choanal atresia, heart defects, cleft lip, etc.) can be surgically corrected (Blake & Davenport, 1998). In any child in whom CHARGE is suspected, complete cardiac (heart), ophthalmological (eye), and audiological (hearing) evaluations should be performed, as well as abdominal ultrasound (kidney), and chromosome evaluation (Lewis & Lowther, 2001). 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 (Griffin & Williams, 2004). Patients also keep regular appointments with cardiologists, endocrinologists, ear, nose and throat specialists, and multiple other specialists depending on the specific needs of the child (Lewis & Lowther, 2001). 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 (Blake & Davenport, 1998). Appropriate therapies and educational intervention must take into account for hearing and vision loss which is present (Deuce, 2017).
The intelligence of children with CHARGE is often underestimated due to the combined hearing and vision problems. Management should be by a multidisciplinary team and coordinated by a single person, if possible. Through early intervention, many of these children make significant progress. They attend school like non-disabled children in specialized programs tailored to their educational needs and care (Blake & Davenport, 1998). Children with CHARGE do not manifest the same degree of educational needs.
Children diagnosed with CHARGE range from being visually impaired, hearing impaired, deaf-blind, physically impaired, health impaired, or severely multiply impaired (Haibach & Lieberman, 2013). Some children with CHARGE manifest only visible facial features of CHARGE and function at an average or above level. Because there is a wide variation in sensory and other impairments in children with CHARGE it is necessary to plan interventions for these children on the basis of individual disabilities and needs rather than generating interventions from the diagnosis of CHARGE by itself (Griffin & Williams, 2004). During infancy and early childhood, early intervention is crucial. Many children benefit from physical, occupational, and speech and language therapies as well as from consultation from experts in the fields of hearing and vision (Blake & Davenport, 1998).
At the infancy and preschool stage, parents need support in coordinating their child’s medical and educational care. Children with CHARGE use a full continuum of available placement options. Some children attend schools or classrooms for the deaf, and some attend residential programs for children with deaf-blindness. Others attend resource rooms or receive inclusion services. Still others are in need of only vision consultant services or no services at all (Deuce, 2017).
General guidelines for developing curriculum strategies to use with children with CHARGE syndrome include building relationships with children, considering all behavior as communication, celebrating progress, working with parents as partners, developing a communication bubble for children, allowing choices, developing an anticipation of coming events, and facilitating social interactions (Lewis ; Lowther, 2001). Perhaps the most important factor in a successful educational program for a child with CHARGE is the use of a transdisciplinary team approach that encourages parental involvement and provides frequent follow-up. Using this approach ensures that the diversity of educational needs of children with CHARGE can be appropriately met (Deuce, 2017). Depending on the child’s level of development and degree of cognitive, visual, hearing, and motor functioning, many technological interventions may be useful when working with children with CHARGE syndrome. The teacher of a child who has CHARGE syndrome and who is deaf-blind can present spoken language to the child through an auditory system that includes a microphone for the teacher and hearing aids for the child (Griffin & Williams, 2004). Teachers can present text information through closed circuit television (CCTV) that enlarges and enhances letters on a page, using either white or black backgrounds (Lewis & Lowther, 2001). For children who have the potential to learn Braille, Braille Talk may be helpful.
It has Braille symbols for the letters A through Z and the words the and and, as well as raised printed capital letters that appear above the Braille symbols. People who are deaf-blind can use Braille Talk to facilitate conversations with individuals who do not know Braille or who cannot fingerspell (Lewis & Lowther, 2001). Technology can assist in developing self-help skills.
For example, Pants Alert and Potty Alert teach toileting skills by telling the child and the teacher when the child needs to be changed or has successfully used the toilet (Lewis & Lowther, 2001). A self-feeder assists children with disabilities, especially those with motor problems, to feed themselves. Specialized spoons made of hard plastic and cutout cups assist children in eating and drinking (Griffin & Williams, 2004). Children with CHARGE syndrome have unique needs and education is one of those. Providing individualized health care, instructional accommodations, modifications, and technologies in the educational setting allows a child with CHARGE syndrome to learn the skills he or she needs to be a happy, healthy citizen.