October 22, 2019: Phelan-McDermid Syndrome Awareness Day

WHEREAS, Phelan-McDermid syndrome, also known as 22q13 deletion syndrome, is a rare genetic condition caused by a deletion at the end of chromosome 22 or a mutation in the SHANK3 gene; and,  

 

WHEREAS, although the range and severity of symptoms vary, Phelan-McDermid syndrome is generally characterized by intellectual disability, delayed or absent speech, symptoms of autism spectrum disorder, motor delays, epilepsy, and distinctive facial features; and,

 

WHEREAS, it is estimated that approximately 1% of people with autism have Phelan-McDermid syndrome; and,

 

WHEREAS, at least 2000 affected individuals, both males and females, have been reported worldwide, and it is believed that many cases remain undiagnosed or underreported; and,

 

WHEREAS, the incidence of Phelan-McDermid syndrome is unknown, and there is no one treatment specifically for Phelan-McDermid syndrome. The treatment available is based on symptoms and may include physical, occupational, and speech therapy as well as other medical interventions; and,

 

WHEREAS, individuals, parents, and advocacy groups can increase awareness of Phelan-McDermid syndrome and its symptoms through scientific education opportunities and informational exchange; and,

 

WHEREAS, it is important to raise awareness of Phelan-McDermid syndrome and promote education that will help inform citizens about this disorder;

 

NOW, THEREFORE, I, Gretchen Whitmer, governor of Michigan, do hereby proclaim October 22, 2019, as Phelan-McDermid Syndrome Awareness Day in Michigan.