Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Boston Children's Hospital

Status

Completed

Conditions

Autism Spectrum Disorder

Phelan-McDermid Syndrome

Intellectual Disability

Treatments

Other: No Intervention

Study type

Observational

Funder types

Other

Identifiers

NCT03426059

IRB-P00025776

Details and patient eligibility

About

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.

Full 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

Enrollment

24 patients

Sex

All

Ages

22+ years old

Volunteers

No Healthy Volunteers

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