WILLIAMS SYNDROME GUIDELINES FOR PARENTS

WILLIAMS SYNDROME

GUIDELINES FOR PARENTS

by

Orlee Udwin, William Yule & Patricia Howlin

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Foreword



Williams Syndrome (WS) is a rare condition, occurring in approximately 1 in 20,000 live births.
As a result, most people will not have encountered a child with WS before, and they may
understandably know little, if anything, about the characteristics and difficulties associated with
the condition. The purpose of this booklet is to provide information about this rare disorder, and
to outline the difficulties that may be experienced by children with WS. Of course every
individual is different, and not everyone with WS will show all of the characteristics and
difficulties described below. The contents of this booklet are based on research undertaken over
the last twenty-five years, which demonstrates that WS is associated with a number of distinctive
behavioural and psychological features, which differentiate children with this condition from
others with learning difficulties. It is hoped that this information and the advice and suggestions
that follow will be of benefit to the families of children with WS. A separate information booklet
for teachers is available from the Williams Syndrome Foundation, and families may choose to
forward that booklet to their child's school. Two additional booklets relating to adults
“Guidelines for Families & Professionals” and “Guidelines for Employers & Supervisors” are also
available from the Williams Syndrome Foundation.
Published by:
The Williams Syndrome foundation
161 High Street
Tonbridge, Kent TN9 1BX


Illustrations by Cynthia Cooper
First published in 1988.
Revised version published in 2007.
Copyright 1988, 1998, 2007.

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Contents


Description of the Syndrome


Feeding and Eating difficulties


Sleeping Difficulties


Toilet Training


Dressing


Social Relationships


Anxiety


Preoccupations, Obsessions and Stereotyped Behaviours

Temper Tantrums and Aggressive Behaviours

Hypersensitivity to Sounds
Speech and Language Skills
Concentration Difficulties and Over activity
School -Related Concerns
1. Type of Schooling
2. Working with Teachers
3. Perceptual and Motor Difficulties
4. Reading
5. Leaving School

Implications for Siblings
Sources of Help
Acknowledgements

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DESCRIPTION OF THE SYNDROME

Williams Syndrome (WS) is a genetically determined, intellectually disabling condition. Most
affected children develop severe feeding difficulties in the first year of life, including vomiting,
constipation and refusal to feed; they may be irritable, cry excessively and do not thrive well.
Some of the children are found, on testing, to have raised levels of calcium in the blood (infantile
hypercalcaemia); they will be put on a low-calcium and vitamin D-restricted diet by their doctor,
and the feeding difficulties then improve, either rapidly or, in some cases, more gradually. Many
of the children also have a distinctive facial appearance (the 'elfin' face) (see photographs), renal
and cardiac problems (a heart murmur, narrowing of the walls of the main blood vessels carrying
blood from the heart), which may be severe or quite mild. Other children, while having the typical
facial appearance and heart problems, do not have high calcium, and so are not put on low-
calcium diets.
Individuals with WS may also have dental abnormalities, back and joint problems, raised blood
pressure and a delayed rate of growth, including low stature and a slight build. The average adult
height is 5ft for females and 5ft 6ins for males.

Genetic characteristics
Williams syndrome is a rare genetic disorder, with a prevalence of between 1 in 7,500 and 1 in
20,000. It is caused by a deletion of approximately 21 genes on one copy of chromosome 7. This
is sometimes knows as the Williams syndrome critical region (WSCR). Our understanding of the
consequences of the deletion of these genes is very limited. However, research is beginning to
identify the effects of some of the commonly deleted genes. The first of the deleted genes
identified was the elastin gene. Deletion of this is associated with issues regarding connective
tissue, such as heart disease, premature ageing of the skin and hoarse voice. The deletion of the
elastin gene is extremely common in WS, occurring in 95-99% of individuals. As such, it is often
used as a genetic marker for WS, with the deletion typically being assessed using Fluorescent in-
situ Hybridisation (FISH). Other deleted genes have been hypothesized to have roles in visuo-
spatial difficulties (LIMK1), level of intellectual disability (GTF21), facial characteristics
(GTF2IRDI), differences in brain structure (CYLN2), hypercalcaemia (BAZ1B) and diabetes
(STX1A). Overall, it appears that while some genes may have a direct effect, many genes may
interact with other genes at various stages throughout life to produce the characteristics of WS.

Most cases occur sporadically, and the risk to parents of having another child with WS is no
higher than the original risk. Brothers and sisters of WS individuals, too, are not at any increased
risk of having children with WS. However, people with WS themselves have a 50% chance of
transmitting the condition to their children.
Children with WS tend to be delayed in their development and show a range of learning
difficulties, which in different children, can vary from mild to severe. In addition, they show a
distinctive pattern of abilities and particular behavioural and personality characteristics which are
common to most individuals with this syndrome, and which set them apart from other children
with learning disabilities.
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ABILITIES OF CHILDREN WITH WILLIAMS SYNDROME
• Mild to moderate learning difficulties
• Relatively good verbal abilities
• Fluent and articulate speech by school age, often with incessant
chatter
• Marked gross and fine motor problems
• Marked visuo-spatial difficulties



The children tend to be very outgoing, sociable and affectionate, and by school age most develop
fluent and articulate spoken language. They love talking and interacting with adults, and are
helpful and eager to please. Many chatter incessantly, but at a superficial level, and often in a
formal, adult-like way with frequent use of stereotyped phrases and clichés. Taking turns and
keeping to the point in conversation may be especially difficult for them. In many cases their
understanding of speech is not as good as their level of spoken language and this, together with
their highly developed sociability may give the impression that the child is more able than is
actually the case. In contrast to their relatively good speech, many of the children have visuo-
spatial problems, and difficulties with gross and fine motor co-ordination. So they may be slower
than usual in learning to sit and to walk, and they may find tasks like riding a bicycle, doing up
buttons, cutting with scissors and holding a pencil particularly difficult to master. They tend to
have poor posture, an awkward gait and limitations of joint movements. Because of their motor
and perceptual problems they may also be fearful of heights and of negotiating stairs and nervous
of uneven surfaces such as grass, gravel or sand.

Many children with WS are overactive and find it difficult to sit still and concentrate on particular
tasks for any length of time. On the other hand, they can become fascinated and preoccupied by
particular objects or topics and spend a great deal of time absorbed with these. While many are
very friendly (and even over-friendly) to adults and seek out adult company, they may have
difficulty making and keeping friends of their own age, often managing somehow to antagonise
their peers.


BEHAVIOUR OF CHILDREN WITH WILLIAMS SYNDROME
Overactive



Excessively anxious
Limited concentration span
Preoccupied with objects/topics
Sociable & outgoing

Hypersensitive to sounds
Overfriendly to adults

Fearful of heights/uneven surfaces

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Children with WS are often described as having anxious personalities and worrying excessively
about themselves and others. Sleeping and toileting problems are fairly common. Many are also
hypersensitive to a variety of noises, such as loud bangs, clapping or laughter, and they may
become tense and fearful when hearing or anticipating these sounds.
Of course every child is different, and not all children with WS will show all of these
characteristics to the same extent. However, research undertaken over the last few years with
children and adults with WS indicates that these difficulties are common to many of them, and
that unless parents tackle them early on they may well persist into adulthood. We would therefore
encourage parents and teachers to address these difficulties as early as possible in the child's life.
In the following pages we describe these difficulties in greater detail and suggest ways in which
you can guide your child in each area. The methods and approaches we will describe are well tried
and have been used successfully to cope with the difficulties of a wide variety of children. They
can be adapted for use with any individual child. Some examples focus on boys, some on girls, but
only because we wanted to avoid using “he/she” all the time. The tips work equally well with
children of either sex.


FEEDING AND EATING DIFFICULTIES

Feeding difficulties, including vomiting and refusal to feed, usually appear in the first months or
year of life and are one of the earliest symptoms of the condition. If a blood test shows the child
to have a high level of calcium, he may be put on a low-calcium and Vitamin-D restricted diet,
and a low-calcium milk preparation (Locasol) may be recommended. With time, the feeding
difficulties will lessen and disappear.
In some cases, problems with swallowing and chewing persist and you may find it difficult to feed
your child with anything other than a soft food diet. And a child who only takes smooth foods will
never learn to chew! In this case you could try to introduce first very small and then larger lumps
into the smooth, liquidised food, or gradually to make the food thicker. Then introduce a few
small pieces of minced meat etc. into the soft food, and move on to easily chewed foods like fish
fingers and rissoles. You may want to enlist professional help from a psychologist or speech
therapist (through your Paediatrician or local Child Development or Child Health Centre) to
introduce a feeding training programme, with emphasis on developing sucking, swallowing and
chewing skills.
Once the child's blood calcium has stabilised over a period of time, the Paediatrician will advise
you about taking your child off the low-calcium diet. For many of the children feeding will now no
longer be a problem. However, some children continue to be fussy eaters and may refuse to eat all
but a very limited range of foods even once they are off their diets. Such idiosyncratic diets can
cause difficulties, for example when the child starts school and is expected to eat set school meals.
Since at this stage there is no medical reason for a limited diet, your child should be encouraged
to try and eat a wider range of foods. One approach you could use is to insist, at mealtimes, that
the child try just one spoonful of a food he normally will not eat, and then immediately praise him
and reward him with his favourite food, and perhaps also with a favourite toy. Such an approach
fits in with our knowledge of the principles of rewarding desirable behaviours. By immediately
following a desirable behaviour with a reward, you make it more likely that this behaviour will
occur again. Gradually, you should require the child to eat larger amounts of the non-preferred
foods before giving him preferred foods and other rewards. Sooner or later most children actually
begin to enjoy eating these other foods, and forget their earlier aversion to them.
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A few children develop a habit of vomiting at mealtimes if they are made to eat foods they do not
like, or perhaps as a means of gaining attention from parents, or when they are anxious or under
pressure. If it is confirmed that there is no physical reason for the vomiting, it is advisable for
parents to be firm and to withdraw sympathy and attention at times when the child vomits (and
perhaps to insist on the child cleaning the mess himself if he is able to), but to praise the child and
reward him with toys or with foods he likes if he does not vomit at mealtimes or at other times
during the day. Another approach is to take the pressure off mealtimes and leave the child to eat
as much or as little as he wants, on the theory that he will eat if he is hungry. This approach will
obviously only be effective if the child is denied sweets, biscuits and snacks between meals. Some
children dribble, and they will need regular reminders from adults to close their mouth and
swallow. Again, a reward system may serve as an added incentive, with the child being rewarded if
he can spend increasing periods of time without dribbling.

SLEEPING DIFFICULTIES

Some children with WS have problems settling down to sleep, or they may wake in the night and
cry or go to their parents' bed. These problems are by no means unique to WS, and as with other
children, they can become severe and prolonged and parents could find themselves spending
several hours each night comforting their child or taking her into their own bed. Dealing with
these difficulties requires a firm and consistent approach. If your child takes a long time to fall
asleep and continually calls out to you or insists on your presence before falling asleep, try and set
up a fixed bedtime routine. Once you have said firmly that it is time to go to bed (preferably at a
fixed time each night), help her to get ready for bed and settle down. You may want to read a story
or sing a song, and then say firmly that it is time to go to sleep and that you will be leaving the
room. You may want to give a favourite toy for reassurance, or leave a light on in the room, and
perhaps use a dimmer switch, which can be faded gradually as she gets used to it. Once you have
left the child, you should try and be consistent about not answering calls or cries and not going
back into the bedroom. To begin with, the period spent ignoring your child's crying and calling
out may seem like an eternity, but if you time it you will probably find that it is a lot shorter than
you think, and it will become progressively less over time. If the child gets out of bed and comes to
you, firmly return her to bed each time and leave the room as soon as possible.
Praising your child for desired behaviour and giving detailed feedback about her behaviour is
important. If the child is old enough to understand, you could introduce a star chart and stick a
paper star or sticker onto the chart each morning as a reward for settling without problems the
previous night. In this way, both you and your child will have a record of the progress that is being
made over time.
If your child wakes during the night and cries or calls out to you, again insist that she goes back to
sleep, once you have made sure that she is all right. Ignore any further calls. If she comes into
your room, firmly take her back to her bed and leave the room as quickly as possible.
When coping with sleeping difficulties, it is important to be firm and consistent and not to give
in to your child's demands. This is not always easy to do! Some of the approaches described
above are easier to use with children who already have language. With younger children and
infants, other methods may be needed. If the sleeping problems persist, you may want to
approach your health visitor, GP or Paediatrician for advice, or ask for a referral to a Sleep Clinic
or the local Child Clinical Psychology Service or Child & Family Mental Health Service (CAMHS).
The Royal College of Psychiatrists also publishes a leaflet on sleep problems with suggestions for
further reading and audiotapes, etc (www.rcpsych.ac.uk/publications).


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Some parents have also found a milk drink with high melatonin levels (“Night Time Milk”
obtainable in big supermarkets) very helpful.


TOILET TRAINING

Wetting and soiling can often persist in the pre-school years and into the school years; or they
may appear as new problems, and may be exacerbated by anxiety or excitement. With a well
worked out programme most children can become toilet trained well before they go to school, or
helped to become clean or dry again if they have regressed.
Most children become toilet trained through a combination of imitation, parental pleasure and
displeasure, and luck. But if a child is not making progress in toilet training in the usual way, then
perhaps by age 3, 4 or 5, parents might decide to try a more systematic approach to toilet training.
When you decide to toilet train your child, take him out of nappies. To start with, take him to the
toilet at regular intervals (every half hour or hour) and encourage him to sit on the toilet or pot for
several minutes. Reward him for performing on the toilet with praise and perhaps with a favourite
toy, or a star on a star chart. Using a musical potty may increase the child's interest in performing
on the pot and may also serve to focus his attention on what he is doing. If the child has an
accident, show him that this is not desirable, but without being punitive. You may also want to
make him help you to clean and wash his pants. If this approach is successful and the child does
not wet or soil his pants in between, gradually increase the time interval between toileting. Teach
him to say the word "toilet" or a related word or gesture that indicates his need to go to the toilet.
With time most children will come to indicate or take themselves off to the toilet when they have
to go.
The above habit training method may not work for every child, and if you find no reduction in
the number of accidents after giving the approach a fair trial (which may be several weeks or
months), other methods may be needed. One such method is a pants alarm. This consists of a
sensor, which is attached to a pad that is inserted into the child's pants. The sensor is attached to
a small alarm, which can be pinned on to the child's clothing. If the child begins to wet the pad,
the alarm goes off. The child is then taken, or reminded to go, to the toilet to finish urinating.
This technique helps the child to gain greater awareness, and hence greater control of his
bladder function, and it has been successfully used with many children of different ages. Parents
may be concerned that children with WS who are sensitive to noise will become upset by the
alarm. In fact we know of a number of WS children who have used this device without difficulty.
But if you fear that the noise of the alarm may be a problem for your child, allow him to play with
the alarm and hear it over a number of days so that he can get used to it before you use it for
toilet training. Your health visitor or GP can refer you to a local clinic or to a Psychologist who
can provide you with a pants alarm and guidance on how to use it, or suggest other approaches
to try. Bear in mind that urinary tract infections can cause, as well as be caused by, episodes of
wetting, and should always be checked for by the GP. In addition, it is important to note that
children with WS often need to urinate more frequently than other children, and they should be
given the opportunity to go to the toilet as often as needed.
If your child wets the bed at night, you could in the first instance introduce a star chart, whereby
you reward him with a star and lots of praise if he has not wet the bed the previous night. This
approach can be very effective, particularly if combined with a programme of lifting the child to
the toilet several hours after he has fallen asleep. If he can remain dry, you can gradually bring the
time of lifting him forward until it coincides with his bedtime. No approach will work
immediately, and it may well take several weeks or months for such a strategy to start taking
effect. Another approach to bedwetting is to use a bedwetting alarm (see above). If the child
begins to wet the pad the alarm will go off, which causes the child to wake up and stop urinating.
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The parent should then take him to the toilet and reset the alarm. Rewards may be used in
conjunction with the alarm, and the child rewarded with praise and toys or stars for dry nights.
Teaching bladder control will sometimes indirectly result in bowel control being achieved. If
soiling continues to be a problem, then over several weeks or months, encourage the child to sit
on the toilet or pot for several minutes or longer at the time(s) when he is most likely to pass a
motion (e.g. after mealtimes), and use a combination of praise and other rewards when he does
open his bowels in the toilet or pot. Try not to get angry if he soils in his pants, but indicate that
this is not desirable. You may also require him to help you to clean himself and wash his soiled
clothing. Related behaviours that may need to be taught include dressing and undressing, the
ability to wipe clean afterwards (moist toilet tissues can be a help here), flushing the toilet and
hand washing. Constipation may be a complicating factor in soiling, in which case it will be
particularly important to ensure that the child eats a balanced diet with plenty of fibre, fruit,
vegetables and liquids. The GP or Paediatrician may need to examine your child to check whether
he is constipated; in this event the rectum and colon may have become impacted with hardened
faeces, and it would be necessary for the impacted mass of faeces to be removed before bowel
training can proceed. Subsequently medication can help to soften stools so that the problem is
less likely to recur.
You may find it helpful to seek advice and support from a health visitor, Child Psychologist or
other child health professional, on the most appropriate method to use with your child in toilet
training. Furthermore, if he is attending a nursery, playgroup or school at this time, invite the
staff there to cooperate with you on toilet training so that a consistent training approach can be
adopted.

The Royal College of Psychiatrists also produces a helpful leaflet and recommended reading
list to help parents (www.rcpsych.ac.uk/publications).


DRESSING

The tasks of dressing and undressing require muscle co-ordination and planning, and this is
something children with WS may find difficult to master. The child may need help with putting
on clothes, doing up buttons and shoelaces etc. Because there is usually so little time in the
morning, parents often find it more convenient to dress the child completely, in order to save
valuable time. This can become habitual, not just with a child with WS but with any young child.
However, the child needs to be encouraged to independence, to learn to do things for herself.
Thus, over time you can slowly encourage her to do more of the dressing independently; for
example, teach her to put on her own pants and then help with the buttons or zip.
Learning to dress can be practiced at other times of the day, and not just during the fraught
morning period when time is of the essence. Clothes should be as easy as possible to put on.
Elasticated waistbands, loose fitting sleeves and necklines, Velcro or popper fastenings, slip on
shoes, all help to reduce hassle and increase the child’s independence. Colour coding, too, is
helpful. For example, putting a coloured mark or sticker inside every right shoe (and even putting
a dab of same colour nail varnish on the big toe of the same foot) can help shoes to go on the
correct foot. A coloured tab sewn into the front of jumpers or vets etc, can prevent clothes going
on back to front.

It is helpful to break down tasks like dressing into smaller steps and teach the child one step at a
time. For example, if you are working on teaching her to put on her socks, you might first put on
each sock up to the ankle and teach the child to pull up the sock from the ankle. Once she is able
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to perform this step correctly, go on to the next step -put the sock on her foot half over the heel
and teach her to pull the sock over the rest of the heel and up. The next step is to put the sock on
the foot to the heel, then on to the instep, then just over the toes -and get the child to pull the sock
up over more of the foot at each step. Eventually, you will be able to hand the socks to the child,
and then leave them on the bed or chair, so that she can take each sock in turn, put it on her foot
the right way round and pull it up. Learning to do up buttons can sometimes be helped by
encouraging the child to practice on buttons 'off the body' first. Cut some buttons and button-
holes off an old shirt or cardigan and get your child to practice on these. Giving the child verbal
cues is also helpful. As an example, when teaching her to do up shoelaces, she can be helped to
talk herself through the routine, for example by saying out loud 'cross the laces over' 'pull one
through' 'pull tight' as the child performs each step. In this way she learns the words and can then
prompt herself in the task.


SOCIAL RELATIONSHIPS

Some children with WS find it difficult to make friends of their own age and show no interest in
playing and interacting with their peers. As they become young adults difficulties in establishing
and maintaining friendships with others of their own age may become even more apparent, and
may be a source of frustration to them and to their families. On the other hand, they love the
company of adults, are affectionate and eager to please, and will often seek out adults to engage in
conversation. At the same time, they often lack understanding of the underlying, 'unwritten' rules
governing social interactions and fail to recognise the social constraints that are apparent to
others. Thus, they may approach strangers in an over-friendly and over-familiar manner and will
often tag along with them. Understandably, this can be a major worry for parents, who fear that
the child is too trusting and could be taken advantage of if he is not watched and supervised all
the time.
Adult friends and relations do not always interact appropriately with children with WS, and they
may on occasion 'over-indulge' or 'baby' them. It is important to try and educate adult friends and
relatives to behave appropriately with your child, but also to show some tolerance and patience
for any unpredictable behaviour.
Helping children with WS to make and maintain friendships with people of their own age is a
complex issue. Particularly as the children move into adolescence, they may be reluctant to
socialise with other people with special needs, but they may also be unable to make friends with
'normal' adolescents who may have little patience with them. If your child is young, you could
help by inviting children from school to your house and initiating and supervising games for them
to play. These could include board games, ball games and make-believe play with dolls, cars, etc.
Parents and school staff can work on teaching the children social skills, including turn taking and
sharing. Many parents also find that their children integrate very successfully into organised and
supervised children's activity groups such as Scouts or Guides, which often appeal greatly to their
gregarious and extrovert natures.
You may need to be actively involved in organising your child's leisure time even when he is older,
since the initiative will not necessarily come from him. Many parents find that if they do not
actively organise outings and activities for their older children, they will be satisfied to stay at
home and watch television or listen to music. Information about local social and sports clubs for
children and adults with a range of disabilities and learning difficulties may be available from
your child's school, or from the local Child Development Centre or Social Services Department, or
from a health visitor. These clubs often arrange supervised outings, sporting and other social
activities where the person with WS can meet others on a regular basis.
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