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How many of the manifestations of VCFS can I expect my
child to have?
Velo-cardio-facial syndrome, or VCFS, has had over 180 clinical features
described, and these are listed on the Specialist Fact Sheet distributed by
the Educational Foundation. Probably no individual with VCFS has all 180
findings, but it is also true that no one with the syndrome has only one or
two of the findings. Many of the anomalies associated with the syndrome are
not apparent at birth, or even in early childhood, primarily because they
are behavioral, or in some cases because they are “silent” anomalies,
meaning that they are not symptomatic.
For example, nearly all individuals with VCFS have some degree of
learning difficulty that does not become apparent in many cases until six,
seven, or eight years of age. Structural kidney anomalies are also common,
but in most cases cause no clinical problem and are sometimes discovered by
chance during an X-ray procedure for some other problem. Therefore, it is
important for you to know the full range of possible abnormalities
associated with the syndrome so these can be shared with your doctors.
With the type of information provided on the Specialist Fact Sheet, there
should be few unpleasant surprises, and abnormalities can be anticipated
rather than discovered by chance. Most individuals with VCFS do have
multiple abnormalities that become expressed over time, but few, if any, of
the late-onset problems pose major threats to health, especially when
managed properly.
There are a number of reasons why children with VCFS may be smaller than
normal. In those cases where there is severe heart abnormality, small size
is very common, but significant catch-up growth should be expected after
definitive repair. It has also been found that many children with VCFS are
slightly shorter than one might expect in relation to their parent’s height;
but, in these cases, height is not abnormally short, just slightly shorter
than one might anticipate. However, it should also be pointed out that
adults with VCFS are not typically very short. There have not been any
studies that have plotted the height of a large number of adults with VCFS
and compared them to the general population, but the clinical experience is
that adults with VCFS tend to be of normal height. There have been a small
number of children with VCFS who have been of very short stature and who
have required growth hormone treatment. However, this number is so small
that it may not be any larger than the number of children in the general
population who require such treatment.
Another observation is that the pattern of growth in VCFS may be slightly
different than for other children. As infants and toddlers, children with
VCFS sometimes lag behind their peers in growth; but, as they approach
school age, they do tend to catch up to other four and five-year-olds fairly
quickly. One also needs to be careful over the interpretation of the term “small.” Infants and toddlers are often weighed in doctors’ offices, but
sometimes their length is not measured. Therefore, low weight doesn’t always
mean that a child is failing to thrive. Because, as stated above, children
with VCFS are often shorter than normal as infants, their weight may also be
low. This is especially true of children with severe heart anomalies that
cannot be completely repaired in the neonatal period. Poor circulation can
dramatically reduce linear growth, and it is therefore often true that
children who are short do not eat as much as other children, because they do
not require so many calories to maintain their growth velocity, and eating
more will not make them taller.
It is therefore important to calculate weight in relation to height as an
index of proportionality. This is especially important because feeding
babies more than they need for their current growth velocity may make their
vomiting worse.
My child seems to be “behind”, developmentally. Will
he/she catch up?
Developmental delay is a common manifestation in children with VCFS, but it
is variable with some children showing almost no early problems and others
being quite delayed. The majority of children, however, tend to fall towards
the outer limits of normal for most motor milestones. Specifically, data
derived from the membership of the Educational Foundation shows that the
average age for walking is closer to 15 or 16 months than 12 months (the
average for the general population). The delay in motor milestones has many
contributors, including the generalized hypotonia (low muscle tone) that is
common in VCFS. Also contributing are factors such as congenital heart
disease, multiple hospitalizations and operations, chronic illness, and
other factors that can restrict a child’s activity. However, some degree of
delay is to be anticipated. That being said, the large majority of children
with VCFS do go through several “spurts” of motor development, especially
between 3 and 4 years of age that tend to narrow the differences between
themselves and other children quite a bit. By school age, the majority of
children with VCFS tend to perform close to the normal range in terms of
motors skills, although they may always be a little more hypotonic or even “clutzier”
than other kids. Severe motor impairment is very uncommon among children
with VCFS. Speech and language milestones tend to be slightly more delayed,
with the average age of onset of the first word at 19 months, but again this
is very variable. However, the same spurt shown by children with VCFS in
motor milestones also occurs with speech and language. It would seem that
children with VCFS have their own developmental profile that differs from
that of other children. In general, most show significant “catch-up” before
their fourth birthday.
What kind of learning issues can I expect? Do all VCFS
kids have these challenges? To date, essentially all individuals with VCFS have shown some type of
learning disorder. For the large majority of children with VCFS, specific
learning disabilities become obvious by 7 or 8 years of age. Although mental
retardation can occur in VCFS, the diagnosis of mental retardation is
reserved for a very small percentage of cases. However, IQ scores have been
noted to drop in children with VCFS, often between 7 and 10 years of age,
although this is variable. A drop in IQ scores does not represent a loss of
intellect. Rather, it reflects the specific type of learning flaws that
children with VCFS have. Many IQ tests, particularly the Wechsler scales,
depend heavily on language mediated problem solving and abstract logic.
These are specifically the areas in which children with VCFS do the poorest.
Difficulty with abstraction and problem solving tends to interfere most with
mathematics and reading comprehension. Children with VCFS tend to do well
early on with letter recognition and sounding out words for early rote
reading. However, later on when they are asked to extract meaning from a
paragraph or page, they have a great deal of difficulty. Concepts are
difficult to grasp, even things as seemingly basic as “opposite” or
“reverse.” Therefore, learning is best done by repetition and breaking
things down into the smallest concrete units.
I can’t seem to get school personnel to take me
seriously. What can I do to get help for my child? It is always best to work with a school system, rather than against it.
Unfortunately, people often tend to become confrontational when they are
frustrated by lack of action. The first and best step is to know what the
schools must provide under state education law and individual school system
policy. Once this is understood, it is always best to find a friendly ear
within the school hierarchy with whom reasonable conversation is possible.
Confine contacts to important issue (in other words, don’t wear out your
welcome) and work in concert with the people in the schools rather than
being persistently contrary. It is often true that there is more than one
alternative to success. Allow teachers to express themselves and then react
to that expression with candor, but kindness. There is no surer way to have
difficulty than by challenging people so that they become defensive.
Finally, get the support of someone expert in dealing with VCFS and have
them work with you, as well. If you are well armed with facts and experts,
and the school is willing to work with you, the outcome will be positive.
Where is the best place for me to get medical care for my
child? Should we visit a VCFS clinic? This is really one of the most difficult questions to answer. As is true
with many disorders that have only recently been discovered, there may not
be a large number of people available with enormous experience or expertise.
This is, in fact, the very reason for the formation of the VCFS Educational
Foundation. It is possible to call or email the Foundation and ask if there
are Professional Members located at a local facility. Although the
Foundation does not endorse the skills or expertise of specific individuals,
their membership in the Foundation at least speaks to their interest. There
are hundreds of Professional Members from many different disciplines located
around the world. There are only a few specialty centers that deal
exclusively with VCFS at present, and hopefully that number will expand. It
is obviously not possible for everyone to visit one of these centers. In
dealing with local doctors, it is always a good idea to be direct in asking
questions about experience with VCFS. Use the Educational Foundation’s web
site to arm yourself with as much information as possible about the syndrome
so you can ask intelligent questions. If you are not satisfied with the
answers, then you always have the option of seeing someone else. As in the
previous FAQ, try not to be confrontational. No one enjoys an interaction
with someone who tries to put you on the defensive. This, in fact, works
both ways. Don’t be put on the defensive by your doctor, and don’t put your
doctor on the defensive.
Do all children with VCFS develop psychological and
psychiatric problems? What can I do to avoid them? As is true with all clinical manifestations of genetic syndromes, it is
rare for any single abnormality to be present in every case. It is also true
that even when present, not all anomalies have the same degree of severity.
The psychiatric studies that have been published until now have presented
some conflicting information, but it is safe to say that the majority of
individuals with VCFS have some behavioral disorders. In most of these
cases, the manifestations are not very severe and often do not require
medical management. The frequency of severe psychiatric problems is fairly
low, probably under 20%, but this exact figure is not known. Part of the
problem in psychiatric investigations is that the severity of psychiatric
illness varies with age, typically becoming more apparent in adult life.
However, enough adults with VCFS have been studied to know that the majority
do not have severe mental illness.
This is a very difficult question to answer because the timing of
informing affected children is dependent on more than one factor. Age is
certainly one factor, as is the child’s ability to understand and grasp the
significance of the diagnosis. Also important is the reason for telling the
child, as well as the manner in which the explanation is offered. For
example, even a very young child understands that when they have chicken
pox, they get little bumps on their skin that itch a lot. However, they do
not understand that chicken pox is caused by the varicella virus, that it
may have severe consequences if the infection spreads to the central nervous
system, and that as an adult, the disease has different and more severe
manifestations. Their understanding of chicken pox is different from that of
an adult. therefore, the child should not be told more than they can handle,
and explanations need to be put in terms of what they can understand. Such
explanations should not be confined to one day, but may need to progress in
complexity as the child gets older. The explanations should also be guided
at least in part by a qualified genetic counselor. It is most important that
the genetic implications and recurrence risks be understood by the time the
affected individual is of reproductive age.
What are the chances of my having another child with VCFS
if I don’t have it and my spouse doesn’t have it? Should I have my other
children tested? In the large majority of cases where a child has VCFS but the parents do
not, the risk of another child in the family being affected is no greater
than the risk for the general population; approximately 1 in 2,000. However,
parents may have chromosomal rearrangements, such as a balanced
translocation, that could alter that risk. However, this type of
rearrangement would likely be discovered once a chromosome analysis (karyotype)
was done for the affected child.
I have been told that my child has DiGeorge syndrome. Is
that the same as VCFS? What about partial DiGeorge? Is that the same as a
less severe case of VCFS? A well-known clinical geneticist, Dr. M. Michael Cohen, Jr., has often
said that geneticists are more likely to share their toothbrushes than their
terminology. For a variety of reasons, VCFS is also known by a number of
other labels, including DiGeorge sequence, Shprintzen syndrome, Cayler
cardiofacial syndrome, 22q deletion syndrome, conotruncal anomalies face
syndrome (in Japan), and, unfortunately, CATCH 22. CATCH 22 should certainly
be dropped from the list of acceptable labels because it is an attempt at
humor (based on the late Joseph Heller’s novel and black comedy, CATCH22).
In the case of “DiGeorge,” the name was applied after Dr. Angelo DiGeorge,
an endocrinologist at St. Christopher’s Hospital in Philadelphia at the
time, described athymia (absence of the thymus gland) and hypoparathyroidism
in several newborns. It has since been learned that many of these early
cases had VCFS. DiGeorge sequence (not syndrome) is so designated because it
represents an etiologically nonspecific grouping of symptoms that have
multiple causes. For example, athymia and hypoparathyroidism has been found
in babies with fetal alcohol syndrome, individuals with Niikawa-Kuroki
syndrome (also known as Kabuki syndrome), and in babies with rearrangements
of other chromosomes besides chromosome 22. The DiGeorge sequence is found
in a small percentage of babies with VCFS (see the data base at our web
site). The majority of children with VCFS do not have DiGeorge sequence.
However, the largest number of children with DiGeorge sequence do have VCFS.
In fact, all babies with DiGeorge who have deletions at 22q11 have VCFS. The
differences in clinical expression of the deletion represents a phenomenon
encountered by geneticists all of the time, known as “variable expression.” The differences in labels, therefore, sometimes represent different clinical
expressions of the same disorder. For an article describing this situation
in more detail, see The Name Game, an article from one our past Newsletters
that is included on our web site.
If VCFS is as common as some people say, why don’t I
hear more about it? As genetic disorders go, VCFS is a relatively recent addition to the
pantheon of known syndromes. There is typically a delay between the first
publication of a new disorder (in the case of VCFS, 1978) and its wide
acceptance into medical practice. In addition, VCFS may not draw the same
notice as disorders such as Down syndrome in large part because the children
are not very stigmatized physically. Because the diagnosis is more
difficult, especially in babies, it may go unnoticed for years. However,
there has certainly been a recent surge in interest in VCFS and the progress
in its study and recognition over the past 5 or 6 years has been little
short of remarkable.
