Living with SMS
Smith-Magenis Syndrome is a complex disability. Each individual will exhibit different aspects of the characteristics and so each family with develop their own ‘coping’ strategies. It is important to get professionals involved early on to provide the family with the support needed.
Input from paediatricians, Speech and Language therapists, Physiotherapists, educational professionals, Portage, social services, Child and Adult mental health services etc are all very important and a multi- agency approach is vital!
Feeding and Eating
There are several areas where difficulties with feeding may occur in people with SMS, including poor feeding in infancy, gastro-oesophageal reflux, textural aversion and weight gain.
Poor feeding in infancy: This is common in in SMS and can lead to failure to thrive. It is often caused by oral motor dysfunction, with problems sucking and swallowing.
Gastro-oesophageal reflux: This is where stomach acid leaks up into the oesophagus which can cause discomfort after eating, pain, and difficulty with swallowing. It can also interrupt sleep, therefore, given the fact that sleep problems are associated with SMS, it is particularly important to identify and treat reflux.
Textural aversion: Dislike of specific food textures is described, and may be an issue for people with oral motor difficulties or sensory sensitivities (see the ‘Sensory Issues’ section).
Weight gain: The limited information available suggests that in older individuals weight gain may become an issue. It is not clear whether this is the result of over-eating (although there are reports of increased interest in food in some people, which emerges with age) or the effects of having SMS. Weight gain may also be the result of medications used; it has been suggested that medications including valproic acid, risperidone, and recent mood-stabilizing agents may not be the first choice of medication for individuals with SMS because of problems with weight gain.
Other factors that seem to be associated with weight gain include having the RAI1 mutation and gender – problems with eating /appetite and weight appear to be more commonly reported in females with SMS than in males.
What might help?
Poor feeding in infancy – speech and language therapy (SLT) and occupational therapy (OT) evaluations should be pursued early to assess feeding difficulties, optimise oral motor abilities and develop intervention strategies.
Textural aversion – this may be related to oral motor difficulties and require intervention from SLT. Where it is primarily a sensory issue, caregivers could try to make smooth foods before gradually making thicker foods, then introduce a few small pieces of food, and then move on to easily chewed foods.
Gastro-oesophageal reflux – be vigilant for signs of reflux; check NHS guidance (see the ‘Sources of Help and Useful Contacts’ section) for signs, which include frequent projective vomiting, wheezing, bad breath and pulling legs up to stomach after feeding. Seek input from medical professionals if concerned.
Weight gain – encouraging a balanced diet and exercise, from an early age is a sensible approach.
Delayed toilet training and persistent night-time wetting are particular issues in SMS (reported in up to 80% of children).
Delayed toilet training is common in children with an intellectual disability, however with consistent implementation of a toileting programme, most children can become toilet trained and this is also the case for most children with SMS.
Many of the approaches that can be used are the same as that which are used with typically developing children; including rewarding children for using a potty/toilet, using a ‘fun’ potty in a favourite colour or character, having regular trips to the potty which become more spaced out as children become dry, and not telling children off if there is an accident.
There is also a lot of guidance available specifically for caregivers of children with an intellectual disability, which may be useful for caregivers of children with SMS, for example the Cerebra guide on toilet training (see ’Sources of Help and Useful Contacts’ section).
There may be specific health and behavioural issues associated with SMS that might affect toileting. These include difficulties communicating the need to go to the toilet, being easily distracted, delayed adaptive behaviours and constipation/urinary tract infections that children may not show clear signs of or be able to report themselves; caregivers should therefore be mindful of these difficulties when toilet-training.
What might help?
Check physical health problems – Urinary tract infections can cause episodes of wetting. Constipation may be a complicating factor in soiling. It may be necessary for a GP or paediatrician to examine the person to check whether they are constipated; this would need to be resolved before bowel training can commence. It is important to ensure that the person eats a balanced diet including plenty of fibre, fruit, vegetables and liquids.
Seek input from professionals – If problems persist, seek input from professionals e.g. health visitor, GP, child psychologist or paediatrician, who may be able to refer on to a specialist for advice.
Use a bedwetting alarm – Alarms can be accessed from clinics via referral from GPs. If the person begins to wet the pad the alarm will go off, which will then cause them to wake up and stop urinating. The caregiver then takes them to the toilet and resets the alarm. Rewards may be used in conjunction with the alarm.
Dressing and undressing requires muscle co-ordination, fine motor skills and planning. Individuals with SMS may take longer to learn these skills than their peers. A person with SMS might need help with putting on clothes and doing up buttons and shoelaces etc. As there is usually little time in the morning, caregivers may find it more convenient to dress a child with SMS themselves, to save time. However, children need to be encouraged to do these things for themselves, with caregivers slowly encouraging them to do more of the dressing independently. Some adults with SMS may still need help with dressing; around half of adults are described as needing some help with this activity.
Some caregivers also report issues with inappropriate removal of clothing in public places. This might occur because the child finds clothing uncomfortable. This could be due to sensory sensitivities, for example a label, seam or other feature of clothing might be irritating. Alternatively clothing may be too hot. It is also possible that this behaviour may be shown because it has previously been associated with a rewarding response. For example the person might have been taken away from a non-preferred activity when they previously removed their clothes (in order to re-dress them), or they may have been given attention (for example being told to put their clothes back on and perhaps helped to do this).
What might help?
Teaching dressing skills – practice skills at convenient times, learning to dress can be practiced at other times of the day, not just during the hectic morning period.
Practice skills in easier situations – teaching a child to do up buttons can sometimes be helped by encouraging him/her to practice on buttons on items of clothing that are not being worn at the time. In the same way, tying shoelaces could first be practiced on loose shoes.
Break down tasks into smaller steps and teach one step at a time – for example, teaching putting on pair of socks, you might first put on each sock up to the ankle and teach the child to pull the sock up from the ankle. Once this step has been mastered, move on to the next stage – put the sock on his/her foot half way over the heel and teach him/her to pull the sock over the rest of the heel, then onto the instep, then just over the toes – and ask the child to pull the sock up over more of the foot at each step. Eventually, you will be able to hand him/her the socks, and then leave them on the bed to be put on independently.
Use visual prompts for each step – pictures displaying each step of a getting dressed process e.g. tying shoelaces may also be effective.
Provide verbal cues – for example when teaching how to do up shoelaces, a person can be helped to talk through the routine, for example by saying out loud ‘cross the laces over, pull one through, pull tight as they perform each step. In this way they learn the words and can then prompt themselves during the task.
Buy items with easy to use fastenings – footwear and clothing with Velcro are a good substitute for shoelaces, buttons and zips. Such items are much easier to put on and take off.
Managing clothing removal – ensure clothes are comfortable – Check for irritation from labels or dislike of certain types of clothes (e.g. tights). Check that the person is not too warm and dress them in light, cool clothing if necessary.
Respond to clothing removal in a ‘low key’ manner – limit the interaction provided (no eye contact, minimal conversation) and try to help the person to re dress and return to their previous activity as quickly as possible to reduce any potentially rewarding attention.
There is no evidence to suggest that general cognitive ability declines in adults with SMS. Furthermore, the profile of strengths and weaknesses demonstrated in the syndrome seems to be fairly consistent across the lifespan, with adults showing similar strengths in verbal comprehension compared to working memory to those shown in children. Thus, the principles of strategies that play to the strengths of younger individuals, such as visual prompts and timetables, may also be effective with older individuals, if tailored to be age-appropriate.
When people with SMS are children, caregivers can make decisions on their behalf, however, when they become adults this may change. As individuals with SMS become older, issues might arise around their ability to make decisions, from whether to go to the shops to whether to have an invasive medical procedure; this is usually referred to as ‘mental capacity’.
There is legislation which governs how this ability is assessed and what steps should be taken if an individual does not have capacity to make such decisions. This can have important implications for the lives of individuals with SMS who have an intellectual disability. Where an individual is deemed to have capacity they will be able to make these decisions themselves. If a person is deemed, after assessment, not to have capacity, then a caregiver or professional (e.g. a support worker) may make decisions on their behalf, which must be in their best interests. In addition to medical issues and day-to-day life, capacity may affect issues such as planning for the future, e.g. financial decisions and decisions about living arrangements.
The implications of mental capacity will differ depending on where families are located, with different countries having different systems.
What might help?
Engage with legislation – caregivers or support workers should familiarise themselves with the relevant legislation regarding capacity in their location.
Assess capacity – caregivers or support workers should engage in an assessment of capacity where this is needed.
Plan for the future – caregivers or support workers should put in place any legal arrangements needed to plan for the future (e.g. wills and trusts).
A Guide to SMS Booklet
Our booklet ‘Smith-Magenis Syndrome: Guidelines for Parents and Teachers’ provides a lot of practical and helpful advice about coping with all aspects of SMS. It covers sleep, social relationships, behaviours, feeding difficulties, toilet training, dressing, school concerns, behaviour in adulthood, siblings and sources of further help.