California Deaf–Blind Services reSources Spring 2003 1������������������� � � � � � � � � �reSources Volume 10, Number 15 Spring 2003Educational and Behavioral Implications of Missing Balance Sense in CHARGE Syndromeby David Brown, CDBS Educational Specialist(continued on page 2)When this condition was first named in 1981, the six diagnostic criteria that were used to make up the acronym ‘CHARGE’ were thought to be the main features of the condition, but since then over 40 associated anomalies have been identified (CHARGE Syndrome Management Manual of the CHARGE Foundation, and see http://www.widerworld.co.uk/charge/whatis.htm), which makes CHARGE, medically and developmentally, one of the most complex conditions that we know. Children with CHARGE are also likely to be amongst the most truly ‘multi sensory impaired’ people you will ever meet, having difficulties not just with vision and hearing but also with the senses that perceive balance, touch, temperature, pain, pressure, and smell. The many different anomalies associated with CHARGE will each impose different, varying, and often, conflicting demands upon the child. One of the most pervasive but least understood of these is the missing sense of balance.Balance and Low ToneBalanceIt is thought that most people with CHARGE have no balance sense due to the malfunctioning or absence of the semicircular canals (the receptors of the balance sense) in the inner ears. The semicircular canals play a crucial role in organizing sensory inputs in all the other sensory channels, so this anomaly has a profound affect on all areas of functioning for the whole life of the child, but it’s importance and impact is usually over-looked and under-played, especially once the child is standing and walking. In the early years the child is likely to show the following:• very low muscle tone (“floppy muscles”)• very poor head control and a generally poor ability to resist against gravity• strong postural insecurity when held upright or sat on a lap• a marked preference for laying flat on the back (supine), and later on the sides too, for long periods of time for most activities• very delayed mobility, then unique movement patterns including shuffling backwards head-first in supine, shuffling sideways in supine, 5-point crawling (using both knees, both arms and the forehead down on the floor as an extra support)ETIOLOGIESEducational and Behavioral Implications of Missing Balance Sense in CHARGE Syndrome ............................................1Leading Causes of Deaf-blindness ...........................4Etiologies Fact Sheet: English ................................................................5 Spanish ............................................................... 7Is Knowing My Son‘s Etiology Really That Important? ........................................9A Big Thank You ......................................................9Two Excellent New Resources ................................ 10Educational Assessments ...................................... 10Mark Your Calendar! ............................................. 11In This Issue2 California Deaf–Blind Services reSources Spring 2003Missing Balance Sense in CHARGE Syndrome (continued from page 1)• floor sitting with the legs in a “W” position to give a broader and more secure base• extreme fatigue after trying to resist gravity (e.g., by sitting or holding the head erect) for short periods of timeIn later childhood and adolescence the problems with fatigue, postural control, and sitting or standing unsupported will 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, hyperventilating, or gazing at bright light. Extended periods of standing still and entirely unsupported are usually particularly challenging. Regular input from a physical therapist is very important for all children with CHARGE, but the therapists will need to be informed about the high frequency of severe balance problems in this population and about the implications of this.Low Muscle ToneVery low muscle tone is partly an outcome of severe balance problems, but is also associated with low vision, breathing difficulties, and generally reduced sensory inputs hence reduced perceptual awareness, and 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 (one British survey found a mean age of 4 years for independent walking). 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, body rolling from side to side with each step, feet sliding along the floor or being planted down very firmly on the floor (maybe several times, almost like patting the floor with the foot) with each step, 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 keep some awareness of the danger areas at the parameters of safe posture. On-going monitoring by a Physical Therapist is important because there is a high risk of the development of scoliosis (curvature of the spine) in later childhood and the teenage years: this may then require therapy treatment and environmental adaptations, the wearing of a body brace, or even spinal surgery in acute cases.EquilibriumPostural security and a good sense of equilibrium depend upon the effective development and functioning of three different but interdependent sensory systems (known as