PRINTER'S NO. 1168
THE GENERAL ASSEMBLY OF PENNSYLVANIA
SENATE RESOLUTION
No.
183
Session of
2017
INTRODUCED BY BOSCOLA, COSTA, FONTANA, FARNESE, BROWNE,
BREWSTER, DINNIMAN, STREET, TARTAGLIONE, VULAKOVICH, AUMENT,
GREENLEAF, KILLION, LANGERHOLC, MENSCH, RAFFERTY AND
SCAVELLO, SEPTEMBER 19, 2017
INTRODUCED AND ADOPTED, SEPTEMBER 19, 2017
A RESOLUTION
Designating September 18, 2017, 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
chromosome 18; 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; and
WHEREAS, Not all symptoms need to be present to warrant
genetic testing; and
WHEREAS, Pitt Hopkins syndrome was first described by two
physicians in 1978; and
WHEREAS, Until recently, diagnosis was based on medical
history and physical examination; and
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
WHEREAS, New technology has allowed scientists to identify
the genetic cause, and now 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 chromosome 18 was
established when the TCF4 transcription factor located on the
chromosome was discovered to play an essential role in the
development of the nervous system and the brain, with any
functional deficiency in development affecting how a child
develops over time; and
WHEREAS, Although approximately 550 people worldwide have
been diagnosed with Pitt Hopkins syndrome, others living with
this rare disorder remain undiagnosed; and
WHEREAS, Pitt Hopkins syndrome occurs in both males and
females and is not limited to a specific ethnic background; and
WHEREAS, Pitt Hopkins syndrome is inherited in an autosomal
dominant pattern, meaning that 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 the rarity of Pitt Hopkins syndrome, online
support groups play a pivotal role for individuals, families and
loved ones to connect with each other and increase awareness;
and
WHEREAS, The Pitt Hopkins Research Foundation celebrates
September 18, 2017, as the fifth annual "International Pitt
Hopkins Syndrome Day" to raise awareness and funding for Pitt
Hopkins research; and
WHEREAS, This date was chosen to highlight the fact that the
disorder is caused by a spontaneous mutation on chromosome 18;
20170SR0183PN1168 - 2 -
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
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, 2017, 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.
20170SR0183PN1168 - 3 -
1
2
3
4
5
6
7
8
9
10
11
12
13
14