CHARGE syndrome “behaviors”: Challenges or adaptations?

Children with CHARGE syndrome are truly ‘‘multi-sensory impaired,’’ having difficulties not only with vision and hearing but also with the senses that perceive balance, touch, temperature, pain, pressure, and smell, as well as problems with breathing and swallowing, eating and drinking, digestion, and temperature control. Children with CHARGE present a unique array of behaviors that are frequently reported as ‘‘challenging’’ [Hartshorne and Cypher, 2004], and it is true that behaviors in this population can be extreme, persistent, and apparently paradoxical. Several decades of observing and working with children with CHARGE has shown that sometimes the behaviors that are reported as ‘‘challenging’’ are, in fact, adaptive responses to severe levels of multi-sensory impairment, responses that help the children to function effectively [Salem-Hartshorne and Jacob, 2004]. A therapy/educational approach that accepts and acknowledges many of these behaviors as achievements, and then uses them to work towards further skill development, trying to reduce stress levels and helping the children to develop acceptable strategies for adapting to their sensory experiences, will be more successful than one that aims, as a first priority, to remove these behaviors and replace them with more ‘‘normal’’ functioning [Moss, 1993]. It is important to avoid too narrow an emphasis on the ‘‘deafblind’’ aspects of CHARGE and instead consider the impact of other sensory deficits. By considering children with CHARGE from a truly multi-sensory perspective, some of the puzzling and concerning aspects of what the children do begin to seem totally explicable. Even so, many challenging behaviors are encountered that cannot be explained by this sensory perspective alone, and other factors like pain, health issues, and the impact of specific brain malformations seem to provide useful avenues for investigation. I discuss here first implications related to balance, vision, and hearing. I follow this with some comments about sensory integration (SI) and communication, and finally some anecdotes to illustrate these issues. It is thought that most people with CHARGE have little or no balance sense due to the malfunctioning or absence of the semicircular canals (the receptors of the balance sense) in the inner ears [Admiraal et al., 1998], and to anomalies of the auditory nerve (cranial nerve VIII) [Davenport, 1999]. The semicircular canals play a crucial role in organizing sensory perception through all the other sensory channels [Murofushi et al., 1997; Maynard, 2001], and so this anomaly has a profound affect on all areas of functioning and behavior for the entire life of the child. However, its importance and impact is usually over-looked and under-played, especially once the child is standing and walking independently. Table I lists many of the effects of these balance difficulties on the young child. Significant problems with the balance sense will inhibit the development of effective body language, since postural control, equilibrium, muscle tone, and motor coordination will all be impacted [Abadie et al., 2000]. An absent balance sense is also likely to have a negative impact on the development of memory, the effective use of vision (especially fine central vision), and the processing of auditory input, all of which have a cumulative impact on speech and language development [Colby Trott et al., 1993]. Resultant difficulties with expressing themselves, or the constant experience of having their expressive communications misinterpreted, can lead some children to give up, or to resort to explosive behaviors that may be construed as unpredictable, irrational, or excessively labile. In later childhood and adolescence, the problems with fatigue, postural control, and sitting or standing unsupported may be less evident but still present. Sometimes the student will benefit from using an adapted chair, with arms and a footrest, possibly also with a tilted seat to encourage more active sitting. There may still be a great need to rest the head on one or both arms or even down on the desktop itself, in order to read or write. Some older children and teenagers can seem to function quite well at their desk for extended periods of time, but they then need periodically to get into a horizontal position to relax and to re-charge their energy levels for the next exertions. They may also need these periods in the horizontal position to reorganize their sensory system using behaviors like leg kicking, arm waving, shoulder shrugging, hyperventilating, or gazing at bright light [Colby Trott et al., 1993]. Extended periods standing still and entirely unsupported are usually particularly challenging. Very persistent low muscle tone (into adulthood) is partly a complication of severe balance problems. It is also associated with low vision, breathing difficulties, and generally reduced sensory inputs, hence reduced perceptual awareness. The problem is then compounded by the lack of motivation to move and the resulting lack of ‘‘exercise.’’ Saving reactions, standing, cruising, and independent walking usually develop very late, as in a British survey that found a mean age of 4 years for independent walking [Blake and Brown, 1993]. When children do walk, there is often a characteristic gait, some aspects of which may remain evident for many years—feet spaced widely apart, knees bent to lower the center of gravity, body rolling from side to side with each step, feet sliding along the floor or planted down very firmly on the floor with each step (maybe several times, almost like patting the floor with the foot), and arms held up like a tightrope walker. Some children walk with repeating swaying circular movements of the upper body and head, as if trying to maintain awareness of the danger areas at the limits of safe posture. On-going monitoring by a Physical Therapist is important because there is a high risk of the development of neuromuscular scoliosis (curvature of the spine) in childhood and the teenage years. It is important for orthopedists and therapists to recognize the neuromuscular (not bony) nature of the scoliosis because treatment is different. Delayed awareness and control of bladder and bowel movements may be attributed to poor nerve feedback due, in part, to very low tone. There appears to be no correlation between delayed toileting skills and developmental level or potential, however. *Correspondence to: David Brown, California Deaf-Blind Services, 5016 Mission Street, San Francisco, CA 94112. E-mail: davidbrown1234@hotmail.com