• Definition
• Acronym CHARGE
• Other symptoms
• Causes and prognosis
• Therapies and Outcome
• Other information

• Poor immune response.
• Some children are difficult to sedate for testing.
• There may be some behavior problems associated with CHARGE Syndrome, but not enough information is available at this time.
• Malformed or absent semi-circular canals which means that the balance sense will be affected or absent.
• Before they can walk, children with CHARGE often move by lying flat on their backs and scooting headfirst or by five-point crawting (i.e. two arms, two legs and forehead) backwards or forwards.
• Once walking, people with CHARGE often show the characteristic pattern of feet rather wide apart, knees slightly bent. feet being planted firmly on the ground and the upper body and head slightly rolling from side to side. This characteristic gait is thought to result from a combination of balance problems, visual impairment, and poor muscle tone.
• Facial Palsy: This is a type of paralysis that can leave the face looking flat and expressionless. The facial nerve that suppiles the facial muscles does not work properly. This usually affects just one side of the face. This distinctive feature may become more or less apparent in people with CHARGE as they grow and develop. It has implications for communication because of the way that facial expressions and speech may be affected.
• Immune System Deficiency: This is seen in children who show an overlap with DiGeorge Sequence. They have an increased risk of infection.
• Larynx/Pharynx Problems: Children with facial palsy are more likely to have structural anomalies in the region of the larynx and pharynx. Ths may lead to swallowing problems and aspiration of food andlor saliva.
• Micrognathia: This means a small lower jaw that may contribute to feeding difficulties, and may be another factor to consider in the development of speech.
• Sensory Defensiveness: Difficulties in coping with stimulation from environments that are quite normal and not at all over-stimulating seem to be a feature of many people with CHARGE. It is likely that people with CHARGE encounter difficulties with all their senses.
• Sleep Apnoea: Disturbed sleep patterns due to periods of arrested breathing are coming to be seen as a feature of infants with CHARGE.
• Swallowing Abnormalities: Some problems with co-ordinating breathing and swallowing can be attributed to damage to the ninth and tenth cranial nerves. Additional contributory factors may be breathing difficulties, hypotonia, weak or malformed oesophagus and trachea, and sensory defensiveness.

Causes

Affected Population

The incidence of CHARGE is about 1/10,000-1/12,000 births. It is probably very underdiagnosed. The frequency is the same in males and females. CHARGE has been seen in all races.

Prognosis

Very little is known about the life expectancy of people with CHARGE Association, nor about the likelihood or nature of late onset complications. One difficulty is that this is a comparatively recently identified condition; if people were born with CHARGE Association well before 1982 it is unlikely that they will be identified as having the condition in their adult years. Another possible explanation is that babies born with CHARGE Association generally died because medical science was unable to support them through the first immensely complex and difficult years of life; nowadays we have the technology to achieve this in most cases.

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. 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.

Appropriate therapies and educational intervention must take into account any hearing and vision loss which is present. 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.

Most of the literature on CHARGE is medical and until five or six years ago showed little understanding of the educational needs or potential for development of children with CHARGE Association. This has improved in more recent literature and, as explained above, with growing awareness of the importance of early educational intervention and of the need for appropriate educational approaches, it should become increasingly rare for 'mental retardation' to be automatically ascribed to young children with CHARGE Association.

To date, no predictive factors regarding the developmental prognosis of CAS infants have been identified. Because of their multiple complex medical/surgical issues, many initial care providers overestimate the severity of developmental disabilitiy in the absence of reliable data. Only by careful, prospective follow-up of a population of CAS infants that have been ascertained through the CPSP can their developmental profile be defined and compared to the reported literature. The increase in paternal age of CAS children has been recognized and needs to be further established, as does the concern with pesticides as teratogens.