Mapping the Phenotype in Adults With 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 phenotypic outcomes and the biological
pathways associated 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 22 years of age
or older 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.

For this study, there is only one study visit. Study visit involves 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:

- Participant is 22 years of age and older at the time of enrollment

- Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3
gene

- Participant is proficient in English

- Participant provided consent

Exclusion Criteria: