Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Phelan-McDermid syndrome (PMS) or 22q13 Deletion syndrome, caused by a loss of one copy of
the SHANK3 gene, is characterized by global developmental delay/intellectual disability,
motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of
this study is to understand more about the PMS phenotype and the biological pathways
associated with ID and ASD in the disorder, and to establish the foundation for future
clinical trials in PMS and in other ID/ASD-associated disorders that share signaling pathways
with PMS.

Individuals with PMS will be asked to participate in this study if they are between the ages
of 3 to 21 years of age with pathogenic deletions or mutations of the SHANK3 gene at time of
enrollment. Both males and females will be asked to participate. Additionally, to be eligible
for study participation, individuals' primary communicative language must be English. Parents
and unaffected siblings may also be asked to consent to have blood drawn for analysis.

The study involves 5 visits (3 on site visits ) over 2 years. Study visits involve a physical
exam, medical history questions, blood work and neuropsychological assessments. Individuals
who have certain clinically indicated procedures (i.e. MRI, EEG, etc.) due will have them
done as part of the research study.

Inclusion Criteria:

- Individuals 3 to 21 years of age with pathogenic deletions or mutations of the SHANK3
gene

- English speaking individuals

Exclusion Criteria:

- Individuals younger than 3 or older than 21 at time of enrollment