Current Environment:


The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.


Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability

Recruitment Status


Detailed Description

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

Eligibility Criteria

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:



Intervention Type

Intervention Name


No Intervention



Min Age

22 Years

Max Age


Download Date

April 2, 2021

Principal Investigator

Mustafa Sahin

Primary Contact Information

For more information on this trial, visit


For more information and to contact the study team:

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome NCT03426059