Williams Syndrome

For a long time we believed our daughter Nina was a Williams Syndrome child.  She has since been provisionally diagnosed in September 1999 to be an Asberger's Syndrome child.  The two syndromes share many symptoms.  Latest News: December 1999: after further investigation by the child psychiatrist, she claims Nina is neither Williams Syndrome nor Asperger's Syndrome, but merely has a bunch of symptoms that can not be described as any known Syndrome.  Thank goodness our life doesn't depend on labels!

Some background and observations about our daughter Nina.

[This is based on an original document which was prepared for doctors and teachers and was first written in June 1998.  It has been edited from time to time to bring it up to date.]

Early days.

Shortly after her birth, Nina was found by police to have no pulse or respiration and was rushed to hospital where she was resuscitated 45 minutes later. Before we adopted her we were warned that there was a possibility that this incident might later on be the cause of some degree of intellectual handicap. Doctors, however, said she appeared to have no intellectual handicap arising from this incident.

At about four months of age she came and joined our family and the adoption was ratified by the court six months later.

She has suffered from chronic eczema since birth but this is kept under control, only flaring up occasionally.

Testing at the Adventist Hospital Allergy Clinic in Hong Kong indicated that Nina is allergic to seafood, dairy products and dust mites.  It is interesting that the initial testing did not find the dairy products allergy, simply because she had never had a mouthful of any dairy product in her life.  It was as if, intuitively, we had already known that dairy products would be bad for her.  After the initial test, we gave her some and she had an acute reaction.  The allergy specialist then confirmed that she was allergic.

Very soon after we brought her home we noticed an occasional expression on her face which made her look "mentally retarded" as we put it; perhaps the term "intellectually handicapped" is more acceptable generally today. We still observe that same facial expression at times now when she is five years old.

Over the years, doctors have not known what was wrong with her, saying she couldn’t be mentally retarded and have a command of vocabulary like she has.

We just accepted the doctors' word and didn't push any further until May 1998, when the program 60 Minutes Plus which was shown in Hong Kong at that time did a special show focussing on a genetic condition affecting 1 in 20,000 births which is known as Williams Syndrome.  Until this program we had often remarked that we had never come across another Chinese person who looked exactly like Nina.  As we watched the 60 Minutes program we remarked over and over "Look, that person looks exactly like Nina".  The people in the TV show looked, moved and acted very like our daughter and exhibited the same learning difficulties and peculiar habits.

We immediately commenced studying Williams Syndrome using the Internet. This term is used to describe the 1 in 20,000 children born with the elastin gene missing from Chromosome 7. Internet references to this syndrome strongly matched Nina’s peculiarities although they described several symptoms that were not present in Nina..

Nina’s face has the small upturned nose, very wide mouth, large lips, small chin and puffiness around the eyes which are all associated with Williams Syndrome. However, she does not have the "starburst" lacy pattern on the iris, heart problems, elflike ears or the tightly curled hair which are also typical of Williams Syndrome.

Williams Syndrome children are said to have problems with toilet training, but Nina’s toilet training was normal. In fact she was fully trained at an earlier age than any of our other children.

Why do we now think she has some sort of academic disability?

Nina has some learning difficulties which have become evident during her 2 ½ years at Peace Evangelical Centre Kindergarten in Sha Tin.

Throughout her life she has had constant difficulty remaining upright. While walking, running, etc. she will suddenly fall over without having even had anything to trip over. She falls off chairs almost daily and is the only person I have ever seen fall over as though she had tripped when standing perfectly still!

She appears to be unable to recognise spatial relationships: see examples below.

In June 1998, after 2 ½ years of Education, she was unable to write legibly or even to draw. She just made marks on the paper and was utterly convinced that she had written the required word or drawn a wonderful picture. She was unable to perceive that what she had written or drawn bore no resemblance at all to the item she was copying. She was not able to write her name in either Chinese or English.

In October 98, after moving her to the Shatin Junior School where all tuition is in English instead of Chinese, she can now write her name (in English only) and can draw recognisable pictures.  Since starting at the English-only school, she can now read her name in Chinese and also all other family members' names in Chinese.  We can't figure out why this is so.  At this stage, however, when trying to read names in English, any word commencing with the same capital letter is interpreted as the name (so Vulcan is read as Victor, Nibbles as Nina, Bananas as Benjamin and so on).

In June, she was unable to recognise or name letters or numbers or colours. Hold up a letter "A" and she would guess any one of the letters of the alphabet at random. Yet ask her to pick up Scrabble tile "A" or to find the "A" key on the computer keyboard and she would do so immediately. Hold up a one-coloured item and ask her what colour it is and she would make a wild guess and name almost any colour name at random. On the other hand ask her to pick out another red block from the box and she got the colour right every time.

Give her a book that has been read to her before and she will "read" the whole book aloud verbatim. Write the same words on paper out of the context of the book and she hasn’t a clue what is written. She has an incredible ability to memorise every word of a very long book if it is read to her.

In October 98, however, we are seeing big advances in reading skills and colour recognition is also really beginning to happen.

Oral Chinese and English skills are excellent. She can converse meaningfully in either language. She sometimes places phrases from one language in the middle of a sentence in the other without realising she is doing so. As most of the population here tends to do that, it may not be relevant. When forming a sentence in English, she will relatively frequently invent clauses to describe something if she doesn’t have a name for it. I will never forget the day a couple of years ago when she referred to the newly acquired and somewhat noisy dehumidifier as the "electric blowing wind making water singing lots of noise box".

Numeracy concepts are another mixed bag. She will count heads around the family in the morning and correctly announce that "four of the six people are already dressed". However if you ask her what number is after three or what number is one more than three and she has no idea at all. She will faultlessly recite all the numbers up to twenty aloud in either language, but cannot count the number of objects in a picture. She will either leave some out or count some repeatedly.

By October 98, Nina was making great progress in number skills.  She can now almost always correctly count a number of objects up to twenty or more in Chinese or English.

She has perfect pitch when singing and can remember every word of a song in either Cantonese or English even if it has not been heard for a long time.

Other factors in Nina’s life and personality.

Nina has some sort of abnormality about her teeth. Right from the appearance of her very first baby tooth they have been coloured a dark yellow. They also appear to us to be very small.  I understand that Williams Syndrome people frequently display abnormalities in formation of teeth, but I don't know whether Nina's teeth are typical of WS people or not.

As a young child she would put her hands over her ears and scream at any loud noise. She was petrified of thunderstorms. After a lot of patient work we seem to have solved the thunderstorm problem. She doesn’t like the noise but she now knows that it cannot harm her.

Nina is very small for her age: she is often mistaken for a three-year-old - until she starts speaking! Her weight at 5 ¼ years of age is only 12 Kg so she is considerably lighter than her 2 ½ year old brother and only 1 Kg heavier than her 18-month old sister who can be dressed in Nina’s clothes. She is very slim and is still able to put on shirts into which her 18-month-old sister is now too large to fit.

As a young child it seemed to take forever to get a bottle of formula into her. As she grew older her eating has always been so light that we at one time wondered about anorexia. She seems to get enough nutrition to remain very healthy, but the small quantities of food eaten are often a bit of a worry.

As a baby and as a young child, she would always wake several times a night and come and stand at Wendy’s side of our bed until we put her back into her own bed. The only way we were able to prevent this was to put her in a top bunk from which she was unable to climb down.

As a little kid, Nina would cry for hours on end for seemingly no reason. She still makes a lot of noise crying for what seem to be us to be very trivial reasons but at least these days we can see the reasons!

Her hearing is so exceptionally good that she will understand words said in a whisper from the next room. This is an important factor to bear in mind in a school or clinic situation if her progress/health are being discussed supposedly out of her hearing.

Perhaps a lot of her night time awakenings and crying sessions were related to noises which we didn’t notice or took for granted but which were very loud and frightening to her.

Nina is extremely friendly towards all people whether she has met them or not. She will wander away from the family and engage in animated conversation in Chinese or English with complete strangers. She prefers talking to adults than to children her own age.   However, if any professional such as a doctor or teacher tries to engage her in conversation, she can be extremely unco-operative.  There would appear to be inconsistencies here.
March 1999: Nina is much less ready these days to go up to absolute strangers and engage them in conversation.  She appears to be maturing in this area.

She is a very loving and caring and sharing kid. She gives away her things to others almost to excess.

She will ask about future events again and again and again, so we usually don’t let her know in advance what is coming up so that we can have some peace.

In a shorter time frame she can become very panicky when the lift is coming, absolutely petrified that the doors will open and close too quickly and we would be left behind. She is also scared of the possibility of getting in a lift without us, seemingly terrified that if the door closes between us, she will never see us again.

As of late in October 98 she will now take a lift on her own.  (Note for Americans: what we call a "lift" is known as an "elevator" in the USA)

Throughout her life Nina has had a fear of escalators and would not get on one without a trusted adult holding her hand. Any attempt to get her on an escalator without a hand from Mum or Dad would result in a screaming match. Even the hand the hand of her elder brother wouldn’t do. This has recently ended. One day early in June 1998, some local children were ridiculing her in Chinese about her fear of escalators. A couple of hours later, after considering this, she announced to her mother: " Mummy, from now on I am going to be a big girl and I will always take the escalator by myself." She then walked to the nearby escalator and stepped on it full of confidence without even checking to see if we were following.

Testing for Williams Syndrome.

At our first consultation with our family doctor on this matter in mid-June 1998, he stated that he had never heard of Williams Syndrome. After briefly looking at the medical details we had copied from the Internet, he was of the opinion that testing for this syndrome is probably not available in Hong Kong. He suggested that we should contact the paediatrics department at the Prince of Wales Hospital. Nina had an appointment there in August 1998.  Referrals have resulted in further testing.

Experts in Australia referred us to Genetics specialists in Hong Kong and testing for the purpose of diagnosis was done in August 1998.  The results of the FISH test were normal, therefore the geneticist told us that Nina did not have "Genetic Williams Syndrome".  Behavioural psychologists on the other hand, say she exhibits many symptoms and behaviours of Williams Syndrome.  It was interesting that the behaviourist thought she was not WS at all until she relaxed and started to play on her own with toys and things in the consultation room.  It was then that she was said to be very like a WS child in her actions and playing.  She was assessed at approximately 60 in I.Q. level at this time.

Assessment by Educational Psychologist, March, 1999

Nina had a very thorough assessment by the Educational Psychologist in mid-March 1999.
He applied a battery of tests which set her I.Q. level at 77 which is much higher than previous measurements.  In matters pertaining to Maths, counting and numbers she is operating at the average level for her age and grade at school.
She recognises all letters of the English alphabet and understands what sounds they make, but her sight recognition of words is a long way behind the average.
Her fine motor skills such as writing and drawing - anything involving manipulation and control of a pencil - are a long way behind average. 
She is still showing many obvious signs of Williams Syndrome, but it is impossible to confirm whether these symptoms are due to WS or to the oxygen deprivation during her trauma shortly after birth.  We are encouraged to focus on ways to help Nina deal with her various weaknesses rather than to try to label the causes of those weaknesses.
The psychologist recommends O.T. and also speech therapy, so we will be looking into these in the future.
Nina has truly progressed a very long way in her first months of primary schooling.   Congratulations Nina, well done!  And a special thank-you to Miss Whitehead, Mrs Shroff and the other staff at the Shatin Junior School.  Well done!

June 2000

Nina has completed year two at Shatin Junior School and is now reading fluently, but at a lower level than would be normal.  She will repeat Grade Two next year. Congratulations Nina on another successful shool year! Special thank-yous to Mrs Rampton, Mrs Shroff and the other staff at SJS.  Well done!

Some thoughts about Williams Syndrome and its diagnosis.

From our researching into WS it is obvious that it was originally discovered by the close resemblance between several young patients with heart problems.  At a much later date it was linked with the deletion of the elastin gene from the seventh chromosome which is also related to various heart problems. From a strictly scientific and medical view then, it would appear that since Nina's heart is "as strong as an ox" (to quote the geneticist) and since the FISH test shows no deletion of the elastin gene, then Nina's symptoms are not due to WS.
However, when I mentioned this on the Williams Syndrome e-mail listserve I was immediately informed in an avalanche of e-mails of there being dozens of patients, chiefly in the USA, where there was a positive diagnosis of WS but a negative FISH test.  There were also a great many WS patients where there was no evidence of heart problems.
From this, it would appear that there are still many doctors who are of the view that the presence of a number of the common symptoms of WS constitutes the presence of WS whether the FISH test is negative or positive.
It also occurs to me that there is a possibility of there being many genetic variations that have not yet been discovered that may be related to WS.  As I have no way of researching or proving this, it will have to remain a theory until those who are better qualified than I have been able to complete a lot more research.  If there is anything at all in this theory, it may mean that the elastin deletion in chromosome 7 is only one of many possibilities that may be linked to WS.  This would be consistent with the evidence that not all WS patients show all of the recognised symptoms of WS.   Therefore, many of those who have been diagnosed with WS and have not been found with the elastin deletion from chromosome 7, may have many of the other (at this stage theoretical) genetic pointers to WS.

As Nina is still said by professionals to have many symptoms pointing to WS and as we have received a lot of help and enlightenment from the WS listserve, even though at this stage there is no "official" diagnosis of WS, we will continue to occasionally maintain and update this page and we will certainly continue to scan the e-mails in the WS listserve.
As of June 2000, we are pretty well convinced Nina is not WS nor is she Asperger's Syndrome.  We are therefore no longer monitoring the listservs for either condition.

LINKS:

Williams Syndrome Association (USA)
Williams Syndrome Foundation (USA)
Canadian Association for Williams Syndrome (Canada)
Life with Zoe (Australia) a mother's perspective on having a child with WS
Williams Syndrome Foundation UK (UK)
Amanda Plachecki's WS page (USA)
Patricia Moylan's WS page (Ireland) [also Moylan Family Home Page]
Williams Syndrome Page - Sereena Beech (UK)
Williams Syndrome Monthly Medline Alert (USA) Useful for studying WS
Jaime King's WS page (USA) Has many valuable links.
Different Minds (USA) Article about WS
The Family Village - Williams Syndrome (USA)
The Lili Claire Foundation (USA)
Bundesverband William-Beuren Syndrom (Germany)
Williams-Bueren-Syndrom Regionalgruppe Bayern-Sud (Germany)
http://users.skynet.be/wsa-bel-fr (Williams Syndrome Association - Belgium)

Special thanks to Phil and Ingrid Schubert for pointing me towards many of the above links.

In July 2004, we are convinced that Nina is neither WS nor AS.  She is now 11 years old and attending Everton Park State School in Queensland Australia.

Note that this page will no longer be kept updated.

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