PRINTER'S NO. 1253
THE GENERAL ASSEMBLY OF PENNSYLVANIA
SENATE RESOLUTION
No.
187
Session of
2015
INTRODUCED BY BOSCOLA, COSTA, HUGHES, FONTANA, ALLOWAY,
BREWSTER, DINNIMAN, SABATINA, TARTAGLIONE, TEPLITZ, AUMENT,
GREENLEAF, PILEGGI, RAFFERTY AND SCAVELLO, SEPTEMBER 18, 2015
INTRODUCED AND ADOPTED, SEPTEMBER 18, 2015
A RESOLUTION
Designating September 18, 2015, as "Pitt Hopkins Syndrome
Awareness Day" in Pennsylvania.
WHEREAS, Pitt Hopkins syndrome is a rare and severe
neurological disorder caused by a spontaneous mutation on the
18th chromosome; and
WHEREAS, Pitt Hopkins syndrome is characterized by
developmental delays, moderate to severe intellectual
disability, breathing problems, epilepsy or recurrent seizures,
gastrointestinal issues and distinctive facial features; and
WHEREAS, Most affected individuals do not learn to walk
unassisted and do not develop speech, but not all symptoms need
to be present to warrant genetic testing in individuals; and
WHEREAS, Pitt Hopkins syndrome was first described by two
physicians in 1978, however, until recently, the diagnosis was
based on a person's medical history and a physical examination;
and
WHEREAS, New technology has allowed scientists to identify
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the genetic cause and now the diagnosis is usually based on the
results of microarray analysis which can be performed on a blood
sample; and
WHEREAS, In 2007, the connection to the 18th chromosome was
established when the TCF4 transcription factor located on
chromosome 18 was discovered to play an essential role in the
development of the nervous system and the brain, and any
functional deficiency in development affects how a child
develops over time; and
WHEREAS, Approximately 500 people worldwide have been
diagnosed with Pitt Hopkins syndrome, however, given the fact
that the discovery of the gene happened just seven years ago,
there are likely many others out there that remain undiagnosed;
and
WHEREAS, Pitt Hopkins syndrome occurs in both males and
females and is not limited to a specific ethnic background; and
WHEREAS, This condition is inherited in an autosomal dominant
pattern, meaning one copy of the altered gene in each cell is
sufficient to cause the disorder, but most cases result from new
mutations in the gene and occur in people with no history of the
disorder in their family; and
WHEREAS, Given its rarity, online support groups play a
pivotal role for individuals, families and their loved ones to
connect with each other and increase awareness; and
WHEREAS, The Pitt Hopkins Research Foundation celebrates
September 18, 2015, as the third annual International Pitt
Hopkins Syndrome Day to raise awareness and funding for Pitt
Hopkins research; and
WHEREAS, This date was chosen to bring attention to the fact
that it is a disorder caused by a spontaneous mutation on the
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18th chromosome; and
WHEREAS, The Pitt Hopkins Research Foundation is an all-
volunteer organization of families and professionals dedicated
to finding a cure for Pitt Hopkins syndrome through the funding
of research, education and advocacy; and
WHEREAS, The foundation's goal is to bring practical
treatment into current medical practice; therefore be it
RESOLVED, That the Senate designate September 18, 2015, as
"Pitt Hopkins Syndrome Awareness Day" in Pennsylvania in
recognition of the needs of individuals with Pitt Hopkins
syndrome and urge all residents to support the need for
awareness and education regarding Pitt Hopkins syndrome in order
to assist those individuals and families who deal with this
syndrome every day of their lives.
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