This study is NOT currently recruiting participants.
Number
19-M-0054
Sponsoring Institute
National Institute of Mental Health (NIMH)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 0 Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Intellectual Disability; SHANK3; Natural History
Recruitment Keyword(s)
Condition(s)
Phelan-McDermid Syndrome; Intellectual Disability; Autism Spectrum Disorder
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Mental Health
Phelan-McDermid syndrome (PMS) is caused by a loss of 1 copy of the SHANK3 gene. People with PMS have developmental delays or intellectual disability. They may also have delayed or no speech, or autism. PMS in people ages 3 21 is being studied. As they age, PMS may cause a greater risk of psychiatric problems. But less is known about the illness in later adulthood. Researchers want to learn more about PMS in adults and its genetic factors.
Objective:
To learn about PMS and to identify genetic factors that contribute to its diverse symptoms.
Eligibility:
Adults ages 22 and older who have PMS
Their healthy biological parents and siblings
Design:
This study can be done in 1 visit that lasts 4 8 hours or over a few days.
Family members of participants will give blood and/or saliva samples. If needed, they can submit the samples by mail.
Participants will give blood and/or saliva samples.
Participants will have a physical exam. Their head size, height, and weight will be measured.
Participants will be asked to let researchers use data from any recent scans or imaging tests.
Participants will complete questionnaires about their family and medical history as well as their symptoms and functioning. Their parents may be asked to do this for them.
Participants will do cognitive tests. They will answer questions, remember words or symbols, solve problems, or play games.
For participants who cannot participate in person, some tests can be done by phone or video chat. Other tests, questionnaires, and samples can be done by mail.
--Back to Top--
INCLUSION CRITERIA: Subjects -Participant is 22 years of age and older at time of enrollment -Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3 gene -Participant is proficient in English -Participant provided consent Healthy Volunteers (Parents and Siblings of Subjects) -Biological first degree relative to a participating subject of all ages. -Participant has the capacity to provide consent or a guardian who may provide consent on their behalf. -Participant or their guardian, as applicable, is proficient in English -Participant or guardian, as applicable, provided consent EXCLUSION CRITERIA: None
Subjects
-Participant is 22 years of age and older at time of enrollment
-Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3 gene
-Participant is proficient in English
-Participant provided consent
Healthy Volunteers (Parents and Siblings of Subjects)
-Biological first degree relative to a participating subject of all ages.
-Participant has the capacity to provide consent or a guardian who may provide consent on their behalf.
-Participant or their guardian, as applicable, is proficient in English
-Participant or guardian, as applicable, provided consent
EXCLUSION CRITERIA:
Principal Investigator
Referral Contact
For more information: