What is Phelan-Mcdermid

Syndrome?
Discovered just over two decades ago, Phelan-
McDermid Syndrome is a highly under diagnosed
genetic form of autism that is caused by the
deletion of part of chromosome 22 or by a
mutation of the SHANK3 gene or other related
genes. The rst cases were identied in 1992 by
Dr. Katy Phelan and it initially was called 22q13
Deletion Syndrome.
Within a few years, Dr. Phelan and other
researchers identied less than two
dozen cases of the syndrome, but
that number has now grown to more
than 1,100 individuals worldwide
who are diagnosed with PMS. In most
of the identied cases, the condition
is not inherited from parents but
results from a spontaneous genetic
mutation. The size of the deletion is
highly variable and has a direct effect
on an individuals disability.
How is Phelan-McDermid Syndrome
Diagnosed?
Array comparative genomic hybridization
(CGH), also called microarray, is the most common
method for diagnosing PMS. Larger deletions
can also be detected using uorescence in situ
hybridization (FISH) or chromosome analysis.
If a diagnosis of Phelan-McDermid Syndrome
is suspected, but no deletion of 22q13 is
detected through CGH, DNA sequencing may
detect mutations of the SHANK3 gene or other
related genes. Besides deletions of parts of the
chromosome, PMS can also be the result of a ring
mutation, translocation of genetic material and
other mutations. All can be detected from blood
samples as well as from skin cells or cells used for
prenatal testing.
What are some common
characteristics?
PMS involves a variety of developmental delays.
Keeping a close eye on whenor ifyour
child is hitting the key social, emotional
and cognitive milestones is an effective
way to spot the problem early on. Some of
the telltale signs are aky toenails; large,
eshy hands; prominent ears; droopy
eyelids; long eye lashes; full eyebrows;
poor muscle tone and increased tolerance
to pain. A number of individuals have
seizures and anomalies of the spine. Many
chew often on non-food items such as
clothing, bedding and toys. Listen to your
instincts. Some bite themselves or excessively
ap their arms when excited. If theyre telling you
something is wrong schedule an appointment
with your doctor or ask for a referral to a child
development specialist.
Phelan-Mcdermid Learning
Stratgies
Individuals diagnosed with Phelan-McDermid
Syndrome will face learning challenges. Assistive
Phelan-McDermid Syndrome?
PARENTING SPECIAL NEEDS.ORG 26 MAR/APR 2014
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WHAT IS
technology can help your child learn material in
a way they can understand it. IPads and similar
devices can help improve communication skills,
increase social interaction and help your child
build a better understanding of their environment.
An Individual Education Plan (IEP) is a working
document that should be developed, implemented
and monitored in a collaborative manner with you,
your childs teachers and therapists.
Whom should I consult if I suspect?
The Phelan-McDermid Syndrome Foundation
(www.pmsf.org) was established in 1998 and is
today the leading organization for support and
information about PMS. PMSF serves families by
funding research and maintaining a global network
of communication with our members.
One of the main PMSF initiatives was the
development of a web-based International
Patient Registry. By participating, families are
engaging in the quest for a cure. With more than
200 questions related to the features of PMS,
the Phelan-McDermid Syndrome Foundation
has created the most comprehensive database
of information about diagnosed individuals.
The registry also allows researchers to access
anonymous information about those with PMS for
scientic studies. The registry also allows the PMSF
to contact families to invite them to participate in
clinical studies and clinical trials.
In July 2014, the PMSF family will once again
gather in Orlando, Fla., for our ninth International
Family Conference with the theme of Embracing
Today, Empowering Tomorrow. Presenters will
discuss topics ranging from the latest advances
in assistive technology to scientic research
developments and what breakthroughs might lie
ahead.
And, of course, family togetherness and
support is a huge component of the conference.
Sometimes, just sharing lifes toughest experiences
and biggest victories can make all the difference.
GET CONNECTED: Families can get connected
by registering with Phelan-McDermid Syndrome
Foundation. Go to www.pmsf.org and click on
the Membership link or contact Jack Sweeney at
jack@pmsf.org for more information.
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