________________________ HYPOTONIA NEWS _________________________ Issue Number 1, September 1999 London, UK In this issue: Letter from the editor /Getting personal / Tone versus strength - a physiotherapist writes/ Essential web sites / Essential books / Getting in touch _______________________ Quote: "Hypotonicity may be one of the characteristics of such central nervous system dysfunction as cerebral palsy, Down syndrome and non-specific developmental delays. Connective tissue disorders and metabolic, nutritional and endocrine disturbances, as well as a variety of syndromes, can result in hypotonicity." The Hypotonic Child By Regi Boehme 1990 Therapy Skill Builders P.1 _____________________________ Medical disclaimer: Unless otherwise stated, views are personal and any medical queries should be addressed to a doctor. _______________________________ LETTER FROM THE EDITOR. This newsletter came about because of the lack of information available to parents of children who are told - like us - their child has hypotonia (low muscle tone) which is likely non-progressive and non-life threatening - but with no immediately obvious cause. The hypotonia gives an explanation for your child's delays - but you are left wondering what it is all about - and what can you do about it? Soon you discover hypotonia is not a diagnosis but a symptom - which can indicate any number of neuromuscular, metabolic or genetic disorders - and that is where the fun starts. In our case, searches in the Internet led me to contact a number of organisations representing conditions that included hypotonia as a symptom. The answer was generally: come back when you have a diagnosis. Until then, we were alone.However, the UK Contact a Family Organization put me in touch with two UK families with children with hypotonia; and in the meantime I stumbled across Marty White's Benign Congenital Hypotonia Site at http://www.lightlink.com/vulcan/benign/) and had the honour to join his benign hypotonia mailing list - it was a revelation. We were not alone. There were DOZENS of people out there with children with non-progressive hypotonia as their primary symptom, many with no diagnosis other than hypotonia. As one of my e-mail colleagues says: some may have a glitch in the brain, some may have a glitch in the muscles; some a glitch somewhere else - all face similar issues of dealing with hypotonia on a day-to-day basis. Why the newsletter? Well, I am a journalist by profession and this way I get to be editor.. Also, I would like to facilitate parent-to-parent support in UK; so please let me know if you are a UK parent and would like to get in touch with other UK parents of children with hypotonia. The list of contacts will be circulated to those who agree to go on the list. Natasha Brown SPECIAL THANKS TO: MARTY WHITE, leader of the Benign Congenital Hypotonia mailing list; all my email friends; Linda Partridge at Contact a Family UK. ___________________________ Quote: "Although each child's case is unique, all children with BCH [benign congenital hypotonia] require supportive treatment to meet their developmental milestones, including physical, occupational and speech therapy. Early entry into these therapies is essential. It is important that the hypotonic child be encouraged to take an active role in dressing or feeding himself and not become a passive onlooker. Over-dependence on the caregiver must be avoided in order to spur the continued development of the child." Shannon Munro Cohen in article: Congenital hypotonia is not benign. Early recognition and intervention is key to recovery. American Journal of Maternal Child Nursing 1998 March. _____________________ GETTING PERSONAL: Iulen's story By Natasha Brown Our son, Iulen, was born on 23 October 1996 in London, England. He was born normally after a normal pregnancy. He was slightly floppy at birth and there was concern he may have a "syndrome" but this was soon discounted and we were sent home from the hospital. He was slow to feed and put on weight but otherwise healthy. A hospital paediatrician saw him at six weeks old and declared him developmentally on track. At three months he had a respiratory infection and his blood was tested for whooping cough (negative) also his chromosomes were analysed (normal chromosome count), as a consultant suspected he may have a specific syndrome. The (different) consultant who gave us the normal chromosome test results said he looked fine. At six months, when we took him for a vaccination, it was noticed he was a bit more floppy than normal and had a squint. We arranged to see the original consultant who saw him when he was born. Now Iulen was eight months old and could sit when placed, but fell easily with no protective reflexes. Again, a syndrome was suspected. At nine months, he was rolling around the floor but not crawling, and did not bear weight on his legs. At this time, we saw yet another consultant - who "diagnosed" him as definitely having hypotonia - low muscle tone - and being extremely flexible - no syndrome identified. We began physiotherapy. A year later, geneticists at Great Ormond Street Hospital were also unable to give any clues. A senior neurologist at GOS in February 1999 confirmed Iulen had ligamentous laxity (as did his mother) but there was little evidence of a muscular disease or condition. He was building up muscle strength. However, his expressive speech delay was causing more concern. Around this time, I came into contact with Valerie Burrows, of the UK Ehlers Danlos Syndrome Support Group. EDS is a heritable connective tissue disorder, arising from a defect in collagen, with some types having hypotonia as a symptom. Hyperflexibility and ligamentous laxity together with skin issues such as easy scarring are typical. Suddenly, pieces of the jigsaw began to fall into place. I and several siblings were hyperflexible (though perhaps not as bendy as Iulen). I had evidence of poor wound healing after stitches, as did one sister. Research suggested speech delays were more common than average among EDS patients. I and Iulen saw an EDS expert- who confirmed it looked like we both fitted the picture of benign joint hypermobility syndrome, a heritable connective tissue disorder which is considered to be the same as EDS hypermobility type. Iulen will be three in October. He receives physiotherapy, occupational therapy and speech therapy. He did not crawl until after one year old, and then it was commando style until 15-16 months when he crawled on all fours. He did not bear weight on his legs until 13 months old. He walked with support from 17-18 months and took his first steps aged 23 months. He did not begin walking independently full-time until 25 months. He cannot yet run or jump. Iulen's speech is affected by low muscle tone in his mouth and face. For example, he cannot yet pucker to kiss nor can he blow bubbles. However, his non-verbal communication (gestures, signs) is improving. He has a part time place at a mainstream nursery. We are awaiting the appointment of a support worker. ___________________________ Your story: tell it here!! Write to me - see below. _____________________________ Quotes: 1. "The aetiology (of hypotonia) in many cases is unknown " (Source: PedBase, DIFFERENTIAL DIAGNOSIS: http://www.icondata.com/health/pedbase/files/FLOPPYIN.HTM) 2. "A.study by Dr. Andrew Morgan of the U. of Illinois College of Medicine found that .. 1/3 of hypotonic babies were neurodevelopmentally normal by the time there were 5-7 years old (24% minimally impaired, 43% abnormal) and he recommends that all hypotonic infants be closely monitored and if needed, enrolled in early intervention services. "" (Source: PedBase, DIFFERENTIAL DIAGNOSIS: http://www.icondata.com/health/pedbase/files/FLOPPYIN.HTM ________________________________ A PHYSIOTHERAPIST WRITES Tone versus strength By Diane E. Gagnon, M.Ed., PT (Physiotherapist) Biddeford, Maine 04005, USA Many people don't understand the difference between muscle tone and muscle strength. True muscle tone is the inherent ability of the muscle to respond to a stretch. For example, if you quickly straighten the flexed elbow of an unsuspecting child with normal tone, the biceps will quickly contract in response (automatic protection against possible injury). When the perceived danger has passed, which the brain figures out really quickly once the stimulus is removed, the muscle then relaxes, and returns to its normal resting state. The child with high tone or "spasticity" has over-reactive response to the same stimulus. When his arm is stretched, the biceps tightens at an even more rapid rate, and the rate of recovery is much slower, even after the stimulus is removed. Full relaxation is difficult to achieve, so the muscle stays taut for an extended period of time. If another stimulus is added before the muscle has a chance to recover (which happens often during normal movement in the everyday world), the muscle contracts again, becoming tighter. Because this child's muscles never truly rest unless he is asleep, the long term result is tighter, shorter muscles with reduced joint range. This is typically seen in the child with spastic CP. The child with low tone has muscles that are slow to initiate a muscle contraction, contract very slowly in response to a stimulus, and can not maintain a contraction for as long as his "normal "peers. Because these low-toned muscles do not fully contract before they again relax (muscle accommodates to the stimulus and so shuts down again), they remain loose and very stretchy, never realising their full potential of maintaining a muscle contraction over time. These are the "floppy" children who have difficulty maintaining any posture without external support. A child's unique neurological wiring determines whether he will be low, high, or normal toned. Most people have "Normal Tone". In those who do not, a number of factors are involved. Somewhere deep in the muscle are receptors responsible for detecting changes in muscle length. These receptors then tell the brain there is a stimulus, and the brain tells the muscle to contract in response. There are numerous feedback loops to tell the brain whether the muscle has responded appropriately, needs to contract again, relax or whatever... In addition, there are receptors that tell where each joint is located in relation to all the other body parts that help to determine position in space, etc. A delay in perception, decoding, or transmission anywhere along the neural pathways will result in a change from an optimal response, or "normal" tone. People often refer to having a "toned" body when they are in "good physical condition" and exercise regularly. Their muscles are taut, and they look lean. An out of shape person is referred to as having "poor tone", with fleshy muscles and an abundance of "fat". Neurologically these people actually have the same "tone", and the fat person is inherently capable of looking as "toned" as the other (with some allowances made for genetic make-up of course), and just needs to exercise regularly. Fitness experts and health clubs will tell you they are "improving muscle tone", when they are actually reducing the amount of fat to lean body mass ratio. You can improve your fat to lean body mass ratio, and you can become stronger too. These are under your voluntary control. Muscle tone occurs at an involuntary level. We can effect changes in muscle responses with sensory integration treatment techniques that increase the "alert state of the muscle" by bombarding it with sensory stimuli and improve the brains ability to perceive changes in muscle length, preventing it from accommodating to stimuli. With ongoing treatment and practice throughout the day, the more "normal" response elicited, the stronger and more efficient even low toned muscles become. "That" is the basis of our classroom program for children with low tone. Sensory bombardment can effect changes in perception that then lead to changes in efficiency along the neural pathways. But it goes way beyond a couple of hours a week in the gym. c 1999 Diane E. Gagnon, M.Ed., PT Biddeford, Maine 04005, USA _______________________________ ESSENTIAL WEB SITES The Benign Congenital Hypotonia Site - Marty white's excellent web site with articles, links and a chance to join e-mail support group: http://www.lightlink.com/vulcan/benign/ FLOPPY INFANT from PedBAse - gives DIFFERENTIAL DIAGNOSIS for the floppy infant: http://www.icondata.com/health/pedbase/files/FLOPPYIN.HTM Child neurology web forum: http://neuro-www.mgh.harvard.edu/forum/ChildNeurologyMenu.html Ed Chapman's Home Page - speech and developmental delays - useful information, links, and mailing lists for parents on speech delays and developmental delay: http://members.tripod.com/~edchapman/ParentLinks.html WELCOME TO HOLLAND by Emily Perl Kingsley: http://www.geocities.com/Paris/1358/Holland.html Contact a Family UK: http://www.cafamily.uk.org Special Child on-line magazine - excellent and is updated every two weeks or so: http://www.specialchild.com Personal pages: Ryan: http://www.gilhespy.demon.co.uk/complex/ryan.htm Ben: http://home.talkcity.com/PramPlaza/bensmomma/ - has a link to Jason's page Anthony: http://hometown.aol.com/lizcolbyvt/porchhomepage.html _________________________ ESSENTIAL BOOKS The Hypotonic Child By Regi Boehme 1990 Published by Therapy Skill Builders, a division of Communication Skill Builders 3830 E. Bellevue, PO Box 42050 Tucson Arizona 85733 ISBN 0-88450-574-X Cat No 4220 Aimed at physiotherapists, has basic background on how hypotonia affects the young child and exercises for pre-walkers. Sample quote: Basic problems of the child with hypotonia "The child is greatly limited in physical ability to maintain a secure posture in which to interact with the environment. This can be the start of a long, unbroken period of exploration deprivation that may add to existing deficits. It is difficult for the child who cannot move around to develop cognitively. The child may become busy with self-stimulation in an attempt to fill the sensory input void." P.3 The Out-of-Sync Child: Recognizing and Coping with Sensory Integration Dysfunction By Carol Stock Kranowitz Format: Paperback, 1st ed., 352pp.ISBN: 0399523863 Publisher: Berkley Publishing Group 1998 Excellent introduction to sensory integration dysfunction, which is common to many children with hypotonia. Sample quote: The vestibular system affects tone by regulating neurological information from the brain to the muscles, telling them exactly how much to contract, so that can resist gravity to perform skilled tasks.The child with vestibular dysfunction may have a "loose and floppy" body or low tone. Nothing is wrong structurally with her muscles, but her brain is not sending out sufficient messages to give them "oomph". Without that energising oomph, the child's muscles lack the readiness to move with ease." P. 110. The Child With Special Needs: Encouraging Intellectual and Emotional Growth By Stanley I. Greenspan M.D. and Serena Wieder, Ph.D with RobinSimons 1998. Reading, MA:Addison-Wesley ISBN 0-201-40726-4 Weightier than the previous book but also addresses sensory integration issues as well as giving lot sof ideas for developing play and communication. Sample quote: Imagine a child with poor muscle tone who can walk, but not well, who can use his arms, but not easily. Place this child in pre-school, where children naturally run and push, hug and hit, and what will happen to his sense of self? Unable to keep up with the other children or defend himself from their assaults, he may become passive, avoidant and self-absorbed; alternatively he may become overly assertive and aggressive. The signals he sends out may tell the other children to stay away from him, further disrupting his peer interactions. P.43 _______________________ MAKE SURE YOU GET ALL SERVICES YOUR CHILD IS ENTITLED TO! (some are UK only) Check with your health visitor/paediatrican: - Disability Living Allowance - children with low tone often get either lower or middle rate - Orange Badge/disabled parking (from when your child is two if s/he cannot walk or has difficulty walking) - Developmental playgroups/nursery place (apply as soon as you can because there will undoubtedly be a waiting list) - Assessment and sessions with physiotherapist, speech therapist (can help with feeding issues as well as speech and language); occupational therapist. _____________________ In the next issue: Testing and searching for a diagnosis/Your views/stories/opinions. Please send contributions to: Natasha Brown nbrownlaco@hotmail.com ______________________ YES!!! please send me the next issue by email to ............ ______________________ YES! Please add me to the list of UK parent contacts: (UK only at this stage....) Email me with Name: Address: Tel/Email: Name of child: Diagnosis (if any): Year of birth/age: ____________________ copyright 1999 (c) NB PERMISSION TO REPRODUCE FOR NON-PROFIT MAKING PURPOSES