1. No category

Williams Syndrome:
A Multidisciplinary Approach to Care
Jessica L. Waxler, MS; Karen Levine, PhD; and Barbara R. Pober, MD
W
illiams syndrome (WS) is
a highly distinct genetic
syndrome with a unique con-
Jessica L. Waxler, MS, is Genetic Counselor,
Williams Syndrome Clinic and Study Coordinator, Massachusetts General Hospital, Boston,
MA. Karen Levine, PhD, is Instructor in Psychology, Department of Psychiatry, Harvard Medical School, Boston, MA. Barbara R. Pober, MD, is
a Pediatrician/Geneticist, Massachusetts General Hospital, Associate Professor of Pediatrics,
Harvard Medical School, Boston, MA.
Address correspondence to: Dr. Barbara
R. Pober, Center for Human Genetics, Massachusetts General Hospital, Simches Research
Building, Room 222, 185 Cambridge Street,
Boston, MA 02114; fax: 617-726-1566; e-mail:
[email protected] or [email protected].
The authors would like to acknowledge Dr.
Marty Levinson for his input on this article
and the Williams syndrome association and
families for providing photographs.
doi: 10.32800904481-20090723-10
Editor’s note: The online version of this article has been updated since the print edition
went to press.
456 | www.PediatricSuperSite.com
3808Pober.indd 456
stellation of medical and developmental
problems and an associated characteristic personality profile. It is a disorder that
should be well-known to most pediatricians, in generalities if not in specifics.
Although the management of certain
problems may be best provided by a single specialist, other common challenges
are best approached through a multidisciplinary lens for both diagnostic evaluation
and treatment. The etiology of these latter
problems can be viewed on a continuum;
at one end are symptoms manifesting in
one system caused by pathology in another
(eg, abdominal pain caused by anxiety),
while at the other end are symptoms whose
causes are truly multifactorial (eg, abdominal pain due to celiac disease which is also
exacerbated by anxiety).
WILLIAMS SYNDROME
In 1961, Dr. JCP Williams described
four unrelated individuals who had
supravalvular aortic stenosis, mental
“deficiency,” and a facial resemblance
to each other (see Figure 1, page 457).1
A year later, a pediatric cardiologist,
Dr. Alois Beuren, reported four addi-
tional patients with similar findings.2
This disorder has subsequently borne
their name, and is designated either as
Williams syndrome (WS) or WilliamsBeuren syndrome (WBS).
Today, we know WS is a relatively
rare genetic syndrome, estimated to affect around 1 in 10,000 persons. Research into etiology demonstrated that
individuals with WS carry a ~1.5 million
base (Mb) pair deletion of DNA on one
of their copies of chromosome 7.3 This
segment contains more than two dozen
contiguous genes, including the gene
elastin (ELN). Deletion of ELN leads to
many of the classic cardiovascular abnormalities of WS. Although larger and
smaller deletions have been reported, almost all individuals with WS have what
is called a “common deletion” resulting
in loss of 26 or 28 genes (see Figure 2,
page 458).4 The areas flanking the WS
deletion consist of highly repetitive sequences of DNA; misalignment between
these repetitive sequences during meiosis
is the mechanism that most often causes
the deletion. WS is not caused by parental
behavior or exposures.
PEDIATRIC ANNALS 38:8 | AUGUST 2009
8/20/2009 9:11:55 AM
proximate size of the deletion and the
number of deleted genes is provided.
A MULTI-SYSTEM DISORDER
Although the initially noted features
were restricted to a few organ systems, WS
is now recognized as a multi-system disorder with the potential to involve any organ
as well as multiple developmental systems
including the cognitive, social and emotional. The commonly involved systems
are described in what follows.
Figure 1. Children with Williams syndrome at different ages. Characteristic facial features in toddler and
young child are: periorbital puffiness, flat nasal bridge, long philtrum, wide smile, full cheeks, full lower
lip, and delicate jaw. Some features change over time, as can be seen in the two teenagers who show
more prominence of the nasal bridge and nasal tip as well as loss of periorbital puffiness and fullness of
the cheeks. The wide smile persists, and fullness of both upper and lower lips develops.
Because the WS deletion cannot be
seen on a routine chromosome analysis it is referred to as a microdeletion.
For this reason, testing for the presence
or absence of the elastin gene by fluorescent in situ hybridization (FISH) is
required to confirm the diagnosis (see
Figure 2b, page 458). A newer methodology, known either as chromosomal
microarray analysis (CMA) or compara-
PEDIATRIC ANNALS 38:8 | AUGUST 2009
3808Pober.indd 457
tive genomic hybridization (CGH), has
become clinically available and is now
increasingly used to establish the diagnosis of WS (Figure 2c, see page 458).
CMA can detect small deletions or duplications anywhere in the genome, and
offers specific particular advantages
over FISH testing for elastin. One, the
diagnosis of WS need not be considered
in advance of testing, and two, the ap-
When to Consider WS
Features suggestive of WS are variable and can differ by age. During infancy or young childhood, cardiovascular
disease of the “typical” supravalvular
aortic stenosis (SVAS) or supravalvular
pulmonary stenosis variety, or endocrine abnormalities such as hypercalcemia, generally raise suspicion of the
diagnosis. More frequently, however, it
is a combination of relatively non-specific but common problems in infants
and young children such as impaired
growth, hypotonia and joint laxity, prolonged “colic” associated with multiple
formula changes, small primary teeth,
frequent ear infections, esotropia, inguinal hernia, and developmental delay
that should prompt the pediatrician to
consider WS. In older children, the diagnosis of WS should be considered when
cognitive challenges, short attention
span and impulsivity (usually labeled as
attention deficit hyperactivity disorder
or ADHD), and a generally friendly (or
over-friendly) personality, are present in
combination with worry or even frank
anxiety about stimuli such as fireworks,
thunderstorms, escalators or “shots.”
Auditory/ENT findings
Ear infections are common and insertion of myringotomy tubes can be
required. Monitoring for hearing loss
(either conductive caused by otitis media or middle ear fluid, or sensorineural
with unknown causes) is important.7
www.PediatricSuperSite.com | 457
8/20/2009 9:11:55 AM
Figure 2. Depiction of the WS critical region and methods of diagnosis. Ideogram of chromosome 7
with an enlargement of the WS critical region (WSCR) (depicted in A, each rectangle represents a gene).
The diagnosis of WS is most commonly confirmed by one of two methods. Fluorescent in situ hybridization or FISH (depicted in B) only detects the presence or absence of the elastin genes on chromosome
7. Chromosomal microarray analysis or CMA is increasingly used and can identify small deletions or
duplications in the entire WSCR (depicted in C). Drawings are not to scale.
Heightened sensitivity to sudden loud
noises, also called hyperacusis, is almost
universal by school age.8
Cardiovascular Findings
Approximately 50% to 75% of patients with WS have clinically demonstrable cardiovascular disease.9,10 The
most common lesions are vascular stenoses of any medium or large sized artery,
caused by overgrowth of the vessel media and narrowing of the lumen. The single most common location for stenosis is
above the aortic valve, so-called SVAS.
Stenoses of the pulmonary arteries are
common and stenoses at other sites have
been reported but their true frequency
is currently unknown. The natural history of these stenoses is variable; some
patients never develop clinically significant narrowing, although others require
surgery in infancy for relief of severe
obstruction. The highest risk period for
progression of SVAS is infancy and early
childhood. Close and ongoing monitoring by a cardiologist is required, and the
specific timetable is dictated by the patient’s age and severity of findings. The
lifelong risk of developing hypertension
458 | www.PediatricSuperSite.com
3808Pober.indd 458
is ~50%. However, hypertension can
have its onset in childhood, so “desensitization” to blood pressure determinations
should begin in the pediatrician’s office.
Surgically correctable vascular causes of
hypertension, such as renal artery stenosis, are infrequently found but should be
considered especially when hypertension
is new in onset or severe. An extremely
rare complication of vascular disease in
WS is stroke.
Dental Findings
Dental eruption is usually within normal limits, but primary teeth are small and
sometimes abnormally shaped.11 An increased frequency of absent teeth as well as
occlusal abnormalities are reported. Similar changes are present in the secondary
dentition so that many adolescents undergo
orthodontic correction. Excess dental caries
is not a feature of WS per se and suggests
a secondary cause such as reflux or “bottle
teeth.” Formal dental care should begin at
the routine age though due to heightened
oral sensitivity a process of desensitization
is often needed. Poor visuospatial skills necessitate continuous parental involvement
in dental care at home.
Endocrine Findings
The WS endocrine abnormality most
commonly written about is hypercalcemia.
Perhaps somewhat surprisingly, it is the
least often documented of the endocrine
pathologies, occurring in only around 15%
of individuals.5 Hypercalciuria may be
detected more frequently than hypercalcemia. Although calcium problems most
commonly manifest during infancy and
young childhood, they can occur in older
individuals as well. Short-term treatment
options include hydration and furosemide
while longer term treatment options consist
of dietary calcium restriction and administration of a bisphosphonate.12 The etiology
of hypercalcemia remains unknown. Congenital hypothyroidism, requiring thyroid
hormone supplementation, is uncommon
though reported. Subclinical (or compensated) hypothyroidism, consisting of an elevated thyroid stimulating hormone level in
the setting of a normal thyroxine (T4) level,
is more commonly detected.13 The decision
to treat with thyroid hormone supplementation requires input from a pediatric endocrinologist. Early puberty for both males
and females with WS is well documented.
Treatment options include the administration of Lupron to delay puberty, but extensive communication among the family, pediatric endocrinologist, and pediatrician is
necessary as circumstances are unique for
each patient. Finally, a high prevalence of
diabetes mellitus and impaired glucose tolerance (IGT, a pre-diabetic state) is found in
adolescents and adults with WS compared
with their peers in the general population.14
The pediatrician has a key role in providing
anticipatory guidance to emphasize physical activity and healthy food choices, in an
attempt to minimize the long-term risk of
developing diabetes.
Genitourinary Findings
Problems include structural abnormalities of the kidneys (horseshoe kidney or
ectopic kidney) in ~15% of patients with
WS;15 bladder diverticuli (though their
exact prevalence and age of onset is un-
PEDIATRIC ANNALS 38:8 | AUGUST 2009
8/20/2009 9:11:57 AM
Failure to Gain Weight and/or Abdominal Pain
Infants and Young Children
Non-GI
problems
Medical
Hypercalcemia
Emotional/
behavioral
Selected
CV disease
Anxiety
Older Children and Adults
Oral/GI
problems
Colic; difficult
sucking and
swallowing
Non-GI
problems
GER;
constipation
Celiac
Hypercalcemia;
renal failure;
selected CV
disease
Anxiety;
depression
Oral/GI
problems
Dental problems; celiac
GER;
constipation;
diverticular
disease; IBS
Oppositional
behavior
Figure 3. Causes of failure to gain weight, feeding difficulties, and/or abdominal pain in individuals with WS. Larger boxes indicate a more common cause of
the problem. CV = cardiovascular; GER = gastroesophageal reflux; GI = gastrointestinal; IBS = irritable bowel syndrome.
known); delayed bladder training (particularly with acquisition of nighttime training for some boys); and urinary frequency
(which is extremely common). The cause
or causes of this are not understood but
contributing factors appear to include
anxiety, abnormal detrusor muscle contractions, and bladder diverticuli.16
Musculoskeletal Findings
Low muscle tone in association with
joint laxity is an almost universal finding in
infants and young children with WS. Over
time, joint contractures can develop, particularly in the lower extremities, leading
to diminished heel cord range of motion.17
Long-term physical therapy and stretching
improves joint motion, but for some, especially those with persistent toe walking,
surgery may still be required. Lordosis is
extremely common in WS, whereas scoliosis is far less common but can become severe enough to require surgical correction.
Gastrointestinal Findings
Causes of several typical gastrointestinal (GI) problems are elaborated in what
follows, along with a discussion of Figure 3. Most of the conditions noted can
adversely affect weight gain. However,
two-thirds of adults become overweight
or obese, making proper anticipatory guidance important. Although this proportion
PEDIATRIC ANNALS 38:8 | AUGUST 2009
3808Pober.indd 459
is similar to that of the general population,
the accumulation of fat in adults with WS
is in a distinct pear-shaped distribution and
potentially can exacerbate other problems
such as hypertension and diabetes.
Neurological Findings
Hypotonia is extremely prevalent in
children with WS and generally improves
over time. Most patients have a non-focal
though abnormal neurological examination, one in which symmetric hyper-reflexia
and even several beats of clonus are commonly observed.18 Although MRI scans of
the brain are usually normal, type I Chiari
malformation, in which the cerebellar tonsils extend into the foramen magnum, has
been reported.19
Developmental Findings
A specific developmental profile is observed in most individuals with WS. Cognition ranges from an average full-scale IQ
with learning disabilities to mild-moderate
mental retardation with a unique pattern
of strengths and weaknesses.20 Individuals
with WS typically have strengths in language domains and challenges in visualspatial domains, often rendering full-scale
IQ scores invalid. Specific personality
traits including a strong social orientation
with social disinhibition, emotional lability, hyperacusis, musicality, anxiety, and
phobias (often sound related and almost
never social phobias) are frequently seen.
Despite a strong social orientation, difficulties with higher level social interaction almost always co-exist.21 Fears of sound and
tactile issues are very common (eg, alarms,
balloons, blenders, haircuts) as are Diagnostic and Statistical Manual of Mental
Disorders, fourth edition (DSM-IV) mental health diagnoses of ADHD and anxiety.
Anxiety becomes more prevalent during
childhood, occurring in up to 50% of adolescents with WS.22
A MULTIDISCIPLINARY APPROACH
Children with WS may have difficulties
in many areas of health and daily functioning potentially requiring the input of several specialists. Although we recommend
a multidisciplinary model, this need not
take place within a single clinic housing
specialists across disciplines. Such clinics
make multidisciplinary care much easier
for families and pediatricians, however,
in the current healthcare funding climate,
there are very few such clinics. Those that
exist may not have the capacity to provide
ongoing treatment or multidisciplinary
evaluation of complex problems on short
notice. The multidisciplinary approach we
describe here requires a specific model for
thinking about complex problems, stressing knowledge of these problems and re-
www.PediatricSuperSite.com | 459
8/20/2009 9:11:57 AM
Social/communication Problems
Primary
social
processing
problems
Language
based
problems
Expressive
and/or
receptive
language
problems
Nonverbal
communication
problems
(eg, eye
contact, tone
of voice)
Pragmatic
language
problems
(conversational use of
language)
Difficulty
understanding
social rules
and norms;
perspective
taking
Other Developmental Problems
Other developmental
problems
Mental
health
problems
Anxiety
(may
perseverate
on issues/
topics)
ADHD
Global delays
or mental
retardation
(different
interests
from peers)
Medical Problems
Language
related
problems
Other
medical
problems
Oral
motor;
apraxia;
hearing loss
Fatigue due
to sleep
apnea;
drooling;
motor skills
impacting appearance (eg,
dressing skills)
Figure 4. Depiction of causes of problems in peer relationships in individuals with WS. The three smallest boxes indicate different systems of functioning that
can interfere with successful peer relationships, while the larger boxes in the bottom row list specific problems to target for treatment.
ferrals to other specialists, but it does not
require a single multidisciplinary clinic.
Two complex problems that commonly occur in children with WS, GI
issues and behavioral issues, are further
discussed below to illustrate problems
that are best evaluated and treated within
a multidisciplinary model.
GI/Feeding/Weight Issues
For individuals with WS, gastrointestinal, feeding, and weight problems are
numerous, complex, and potentially interrelated.14,18,23-25 As depicted in Figure 3
(see page 459), there are many potential
etiologies rather than an obligatory single
causative factor. Because medical causes
of GI and feeding problems are relatively
common, they must be considered, addressed, and “ruled out” before deciding
that nonmedical factors, such as behavioral
and mental health causes, are operational.
The pediatrician should be the initial
care provider to assess the child with GI issues and to begin the process of determining whether the problem is “unifactorial”
(eg, failure to gain weight solely because
of inadequate caloric intake caused by
dysregulated sucking and swallowing), or
whether it is multifactorial (eg, caused by
gastroesophageal reflux [GER] in conjunc-
460 | www.PediatricSuperSite.com
3808Pober.indd 460
tion with food aversion that has developed
because of the pain of reflux). The pediatrician initiates additional studies and referral
to specialists as needed. The data from all
observations (which consist of, but are not
limited to, progress of the child in response
to treatment, results of laboratory investigations, and differential diagnoses) must
be interpreted and synthesized by the pediatrician in light of cumulative experience
as well as specific knowledge of causes of
GI disorders in WS (as depicted in Figure
3, see page 459). In infants and young children, problems of oral and upper GI functioning are the most common causes of
failure to gain weight, feeding difficulties,
and/or abdominal pain. Colic is common in
WS and can last up to 8 to 12 months. Even
once colic has resolved, advancing the diet
to include baby foods and table foods is
complicated by textured food intolerance.
A specific etiology for these problems is
rarely elucidated, but after a process of
elimination it is often considered developmental/neurological in origin. Motility of
the GI tract seems disordered in that GER
and constipation are extremely common,
sometimes requiring consultation, management support, or even medication advice from a gastroenterologist. Further, the
pediatrician must maintain a high index of
suspicion of underlying pathology, especially of GER, given the cognitive limitations and high pain tolerance reported by
some. Non-GI or systemic problems need
to be considered as well, such as hypercalcemia or exceptionally rare cases of vascular insufficiency of the GI tract. Proper
evaluation and treatment of these causes
can require specialist input as well. Among
young children, learned patterns of avoidant behavior (such as gagging at the sight
of food, originally stemming from the textured food intolerance described above) are
a reflection of the anxiety that is common in
WS. If sufficiently severe, amelioration of
this problem can be especially challenging,
benefiting from a multi-modal approach
which includes feeding therapy, behavior
modification often involving playful desensitization activities, and possibly even
anxiolytic medication. Many of the same
problems can produce abdominal pain or
weight loss in older children and adults
with WS. However, it is also important to
add diverticular disease to the differential
diagnosis since symptomatic diverticulitis
has been detected in teenagers with WS.23
Presumably elastin deficiency in the bowel
wall in combination with chronic constipation predisposes to diverticulosis and
diverticulitis.
PEDIATRIC ANNALS 38:8 | AUGUST 2009
8/20/2009 9:11:58 AM
Social and Peer Interactions
Friendships, peer relationships, and social skills are another area of difficulty for
many individuals with WS. This is despite
the fact that most individuals with WS are
highly socially oriented, making more eye
contact than is typical for instance, even as
infants.26 Individuals with WS demonstrate
developmental delays in aspects that reflect
key components of successful social functioning including language processing,
language formulation, pragmatic language,
and nonverbal communication skills.27 Additional problems with processing of subtle social cues,21,28 cognition20 and mental
health issues such as anxiety, ADHD and
specific phobias, all adversely impact successful social functioning.22 Further, there
are several medical issues that can interfere
with social functioning. For example, in
younger children, oromotor problems can
make speech less intelligible; this combined with hypotonia and/or malocclusion
results in drooling, which can be socially
stigmatizing. Other medical issues presenting as diminished social interactions are
overall sleepiness that may be present secondary to sleep apnea, or hearing loss that
may impact responsiveness to language,
and should be considered. Additionally, in
adolescence and adulthood where more independence is expected and peers are more
aware of appearances, problems with motor planning, organization, attention, and
visual spatial skills as well as possibly also
diminished and/or increased sensory sensitivities, can interfere with processes involved in maintaining socially acceptable
personal appearance (eg, having clothing
adjusted correctly, caring for hair appropriately, etc.) and have a resultant negative impact on peer perception. This combination
of being very socially oriented but lacking
in many social skill components can lead
to an undesirable state of social failures and
isolation, with secondary depression and/or
behavior problems. Patients of all ages presenting with “social problems” are likely
to benefit from support and remediation in
any or several of the domains above (see
PEDIATRIC ANNALS 38:8 | AUGUST 2009
3808Pober.indd 461
Figure 4, page 460). The pediatrician will
want to consider each of these pathways to
determine the best course(s) for evaluation
and treatment. Once it is determined which
factors are contributing most substantially
to social difficulties, treatment modalities
become clearer.
TRANSITION AND
THE PEDIATRICIAN
Maintaining this multidisciplinary
mindset benefits the patient in other areas
of care as well. As individuals with WS
get older, it is necessary to transfer their
Friendships, peer relationships,
and social skills are another
area of difficulty for many
individuals with WS.
medical care from pediatric to adult health
providers as well as to prepare for other
areas of transition in their lives. Although
transition to adulthood has traditionally
been addressed separately in the school
and healthcare systems, the process ideally should be more integrated, focusing on
the individual’s and family’s wishes with
input from other areas including healthcare, education, employment, and the
community. Because individuals with WS
have many health concerns that may impact transition planning, the pediatrician
is in an excellent position to help facilitate
and contribute to this process.
Identifying Key Issues in Transition
Transition is a complex, ongoing, developmental process for everyone but even
more so for individuals with WS or other
special healthcare needs. Although several
pieces of legislation such as the Individuals with Disabilities Education Act (IDEA)
and the Americans with Disabilities Act
(ADA), as well as the 2000 and 2002 policy statements by the American Academy
of Pediatrics (AAP),29 promote transition
preparations, there are many barriers arising between medical care providers and
their patients/families which impede successful transition. These include lack of
communication, avoidance of sensitive
issues, and unfamiliarity with available
resources. The first step in transition planning for an adolescent with WS is recognizing the key issues.
Some issues that arise during transition are common to all patients, such as
establishing a level of independence compatible with their capabilities, building
interests with less of an academic focus,
gaining self-confidence, being comfortable with daily living skills/vocation, developing relationships and social opportunities, discovering sexuality, taking as
much responsibility for their own medical
care as possible, continuing exercise and
good nutrition, and reaching self-determination. In addition, it has long been recognized that there are several differences
between pediatric and adult care.30,31 For
example, adult care is often more fragmented with less coordination, which increases the likelihood of gaps in care that
could be detrimental to the patient.
Some issues at the time of transition
may be more specific to WS. For instance,
many medical problems can potentially
develop or worsen as individuals with
WS age including hypertension, progressive joint limitations, and gastrointestinal
problems such as diverticular disease.6,14
Studies have shown effective transition
programs take advantage of written plans
or protocols to guide care.31 For WS, a set
of guidelines that can help anticipate some
of these problems has been published by
the AAP;5 similarly a set of guidelines for
medical monitoring in adults with WS has
also been published.14
Communication
In addition to identifying each patient’s specific transition-related issues,
there should be communication about
the process with all parties involved.
www.PediatricSuperSite.com | 461
8/20/2009 9:11:58 AM
Schrander-Stumpel et al suggested that
in an ideal situation a coordinated visit
should take place with both the pediatrician and the new adult provider.31 If this
is not possible, then the pediatrician can
assist with referrals to appropriate adult
care providers. To ensure that important
medical information is transferred, a
medical summary sheet should be created and shared by everyone involved
in the transition process.32 A newer option consists of Web-based electronic
medical records. Not only would pertinent medical records be available, but
published guidelines regarding care of
individuals with WS could be uploaded
and also be accessible. A good resource
for developing personal health records
and links for companies providing such
services can be found on the American
Health Information Management Association Web site.33 Discussions with
the family about their concerns for their
child are also important as families promote advocacy and empowerment for
their children.34 For individuals with
WS, it is helpful to have these conversations before the patient reaches the
legal age of consent. In the absence of a
formal evaluation of competency, most
individuals with WS are de facto their
own legal guardians, but a parent or sibling almost always assists in medical
decision making; delineating these roles
early on will facilitate the transition.
Determination of competency, especially for individuals with WS, must take
into account more than IQ score alone;
a global assessment including capacity
for decision making and level of function in daily activities must be made.
Anticipatory Guidance
Closely related to communication is the
role of education, where again the pediatrician plays an important role in informing
others about the patient’s needs. By educating other medical specialists, schools,
and communities, the transition process
becomes more effective and coordinated.
462 | www.PediatricSuperSite.com
3808Pober.indd 462
Adult physicians have specialized training
in adult-related issues. However, they are
less likely than the pediatrician to be familiar with the generic medical and cognitive
problems that typify WS, and would particularly benefit from pediatrician input in
the immediate transition period to enhance
continuity for a patient and his/her specific
needs. A family practitioner or physician
with training in general medicine and pediatrics might not require as much additional
education from the pediatrician.
Discussion with the family
about their concerns for their
child are also important as
families promote advocacy
and empowerment
for their children.
For individuals with WS, sex education is particularly important. It is an area
in which education and guidance are often
overlooked but based on our conversations
with many WS adults, sexual thoughts
figure prominently in their minds and
furthermore, many individuals engage in
exploratory sexual activity, even relations.
Unfortunately, persons with WS (potentially even more so than other individuals
with special needs due to their distinct personality described above) can fall prey to
inappropriate or abusive sexual advances,
making the need for instruction even more
paramount. Murphy and Elias suggest frequent conversations about sexuality beginning at an early age will help the individual
and family become more comfortable discussing the topic and also facilitate processing of this information by both the family
and the individual with special needs.35
They also suggest exploring parents’ expectations of sex education for their child
and providing factual information for both
the parent and child. In most cases, sex
education must be tailored to the special
needs and level of understanding of each
individual with WS. Many care providers
and families feel reluctant to address this
important topic but resources are available
to help, including AAP guidelines for pediatricians to discuss sexuality with individuals and disabilities,35 as well as information
available from the National Information
Center for Children and Youth with Disabilities (NICHY, www.nichcy.org)36 and
Planned Parenthood Federation of America
(www.plannedparenthood.org).37
Although it is not practical for the clinician to be involved in every aspect of transition, it is important to encourage a comprehensive approach. A helpful method to
guide and augment appropriate transition
preparations is the creation of a “transition worksheet” developed by the family
and the pediatrician for both healthcare
and school settings. The medical summary sheet could be a subset of this but
it would also provide guidelines and/or a
list of what needs to be done to prepare
for a successful transition. The Full Life
Ahead Planning Workbook (www.fulllifeahead.org)38 and the Making Action
Plans (MAPs) person-center planning
process39,40 are two models used predominantly in the school setting that could be
adapted to fit both medical and educational transition needs. By extending past the
boundaries of strictly medical concerns, a
more effective medical home, or system of
coordinated care that meets the full range
needs for an individual can be provided.
Comprehensive care of individuals with
WS or any other special healthcare needs
is complicated and potentially requires
input from many disciplines. The pediatrician plays a particularly important role
in helping patients and their families by
recognizing the potential complexity and
multifactorial nature of presenting problems. Although this article uses WS as a
model for the multidisciplinary mindset, it
can truly be applied to any complex condition. With knowledge of common complications and risk factors associated with a
complex condition, plus a team of designated specialists for referral and collabora-
PEDIATRIC ANNALS 38:8 | AUGUST 2009
8/20/2009 9:11:58 AM
tion, the pediatrician is in the best position
to interpret and integrate findings and ultimately improve the quality of life for the
individual with special health care needs
like WS and their family.
REFERENCES
1. Williams WG, Mathieu J, Culham G, Trusler
GA, Olley PM. Acquired supravalvular aortic
stenosis. Ann Thorac Surg. 1979;27(4):335-339.
2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular
aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962;26:1235-1240.
3. Osborne LR. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Mol Genet Metab. 1999;67(1):1-10.
4. Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease
in Williams-Beuren syndrome. J Clin Invest.
2008;118(5):1606-1615.
5. Committee on Genetics. American Academy
of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics.
2001;107(5):1192-1204.
6. Morris CA, Demsey SA, Leonard CO, Dilts
C, Blackburn BL. Natural history of Williams
syndrome: physical characteristics. J Pediatr.
1988;113(2):318-326.
7. Marler JA, Elfenbein JL, Ryals BM, Urban Z,
Netzloff ML. Sensorineural hearing loss in children and adults with Williams syndrome. Am J
Med Genet A. 2005;138(4):318-327.
8. Levitin DJ, Cole K, Lincoln A, Bellugi U.
Aversion, awareness, and attraction: Investigating claims of hyperacusis in the williams syndrome phenotype. J Child Psychol Psychiatry.
2005;46(5):514-523.
9. Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with williams
syndrome. J Med Genet. 2002;39(8):554-558.
10. Zalzstein E, Moes CA, Musewe NN, Freedom
RM. Spectrum of cardiovascular anomalies in
williams-beuren syndrome. Pediatr Cardiol.
1991;12(4):219-223.
11. Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome—oral presentation of
45 cases. Pediatr Dent. 1994;16(4):262-267.
12. Cagle AP, Waguespack SG, Buckingham BA,
Shankar RR, Dimeglio LA. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered
pamidronate. Pediatrics. 2004;114(4):1091-1095.
PEDIATRIC ANNALS 38:8 | AUGUST 2009
3808Pober.indd 463
13. Cambiaso P, Orazi C, Digilio MC, et al. Thyroid
morphology and subclinical hypothyroidism
in children and adolescents with Williams syndrome. J Pediatr. 2007;150(1):62-65.
14. Cherniske EM, Carpenter TO, Klaiman C,
et al. Multisystem study of 20 older adults
with Williams syndrome. Am J Med Genet A.
2004;131(3):255-264.
15. Pober BR, Lacro RV, Rice C, Mandell V,
Teele RL. Renal findings in 40 individuals
with Williams syndrome. Am J Med Genet.
1993;46(3):271-274.
16. Sammour ZM, Gomes CM, Duarte RJ, Trigo-Rocha FE, Srougi M. Voiding dysfunction and the williams-beuren syndrome: A
clinical and urodynamic investigation. J Urol.
2006;175(4):1472-1476.
17. Kaplan P, Kirschner M, Watters G, Costa MT.
Contractures in patients with Williams syndrome. Pediatrics. 1989;84(5):895-899.
18. Carrasco X, Castillo S, Aravena T, Rothhammer P, Aboitiz F. Williams syndrome: Pediatric,
neurologic, and cognitive development. Pediatr
Neurol. 2005;32(3):166-172.
19. Pober BR, Filiano JJ. Association of chiari I
malformation and Williams syndrome. Pediatr
Neurol. 1995;12(1):84-88.
20. Bellugi U, Lichtenberger L, Jones W, Lai Z,
St George M. I. The neurocognitive profile
of Williams syndrome: A complex pattern of
strengths and weaknesses. J Cogn Neurosci.
2000;12 Suppl 1:7-29.
21. Klein-Tasman BP, Mervis CB, Lord C, Phillips
KD. Socio-communicative deficits in young
children with Williams syndrome: Performance
on the autism diagnostic observation schedule.
Child Neuropsychol. 2007;13(5):444-467.
22. Leyfer OT, Woodruff-Borden J, Klein-Tasman
BP, Fricke JS, Mervis CB. Prevalence of psychiatric disorders in 4- to 16-year-olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141B(6):615-622.
23. Deshpande AV, Oliver M, Yin M, Goh TH,
Hutson JM. Severe colonic diverticulitis in an
adolescent with Williams syndrome. J Paediatr
Child Health. 2005;41(12):687-688.
24. Giannotti A, Tiberio G, Castro M, et al. Coeliac
disease in Williams syndrome. J Med Genet.
2001;38(11):767-768.
25. Kaplan P. The medical management of children
with Williams-Beuren syndrome. In: Morris C,
Lenhoff HM, Wang PP, eds. Williams-Beuren
Syndrome: Research, Evaluation, and Treatment. Baltimore: Johns Hopkins University
Press; 2006:83-106.
26. Mervis CB, Morris CA, Klein-Tasman BP, et al.
Attentional characteristics of infants and toddlers
with Williams syndrome during triadic interactions. Dev Neuropsychol. 2003;23(1-2):243-268.
27. Mervis CB, Becerra AM. Language and communicative development in Williams syndrome. Ment
Retard Dev Disabil Res Rev. 2007;13(1):3-15.
28. Skwerer DP, Schoefield C, Verbalis A, Faja S,
Tager-Flusberg H. Receptive prosody in adolescents and adults with Williams syndrome. Lang
Cogn Process. 2007;22(2):247-271.
29. American Academy of Pediatrics, American
Academy of Family Physicians, American College of Physicians-American Society of Internal
Medicine. A consensus statement on health care
transitions for young adults with special health care
needs. Pediatrics. 2002;110(6 Pt 2):1304-1306.
30. Levey EB, Murphy NA. Addressing transition
to adulthood with special needs patients. AAP
News. 2005;26(9):19.
31. Schrander-Stumpel CT, Sinnema M, van den
Hout L, et al. Healthcare transition in persons
with intellectual disabilities: general issues,
the Maastricht model, and Prader-Willi syndrome. Am J Med Genet C Semin Med Genet.
2007;145C(3):241-247.
32. Kelly AM, Kratz B, Bielski M, Rinehart PM.
Implementing transitions for youth with complex chronic conditions using the medical home
model. Pediatrics. 2002;110(6 Pt 2):1322-1327.
33. myPHR.com — My Personal Health Record.
http://www.myphr.com/your_record/index.asp.
Accessed July 13, 2009.
34. Sawin KJ, Cox AW, Metzger SG, et al. Transition planning for youth with chronic conditions:
An interdisciplinary process. National Academies of Practice Forum. 1999;1(3):183-196.
35. Murphy NA, Elias ER. Sexuality of children and
adolescents with developmental disabilities. Pediatrics. 2006;118(1):398-403.
36. National Dissemination Center for Children with
Disabilities. http://www.nichcy.org/Pages/Home.
aspx. Accessed July 13, 2009.
37. Planned Parenthood Federation of America, Inc.
http://www.plannedparenthood.org. Accessed
July 13, 2009.
38. Full Life Ahead. http://www.fulllifeahead.org.
http://www.plannedparenthood.org. Accessed
July 13, 2009.
39. Forest M, Lusthaus E. Everyone belongs with
MAPS action planning system. Teaching Exceptional Children. 1990;22:32-35.
40. Garner H, Dietz L. Person-centered planning:
Maps and paths to the future. For Runner.
1996;11(2):1-2.
www.PediatricSuperSite.com | 463
8/20/2009 9:11:58 AM