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| Name | Class |
|---|---|
| Phelan-McDermid Syndrome Foundation | OTHER |
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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 (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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Phelan-McDermid Syndrome | Phelan-McDermid Syndrome |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No Intervention | Other | No Intervention. This is an observational study. |
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| Measure | Description | Time Frame |
|---|---|---|
| Global cognitive ability | Using standardized T-scores from the Mullen Scales for Early Learning (49 to 155, where higher values represent a better outcome) or full scale IQ scores from the Stanford Binet-5 (40 to 160, where higher values represent a better outcome) to measure global cognitive ability | Baseline |
| Measure of Adaptive Behavior | Using the standardized composite score from the Vineland Adaptive Behavior Scales (20-160, where higher values represent a better outcome) to measure adaptive behavior | Baseline |
| Measure of Overall Language Abilities | Using standardized T-scores from the Mullen Receptive Language and Expressive Language subscales (20 to 80, where higher values represent a better outcome), the standardized composite score Vineland Communication subscale (20-160, where higher values represent a better outcome) and the total raw scores from the Macarthur Bates Communication Developmental Inventory to measure overall language | Baseline |
| Measure of Overall Motor Functioning | Using standardized T-scores from the Mullen Gross and Fine Motor subscales (20-80, where higher values represent a better outcome) and the Vineland's Motor Skills Domain Standard Score (20-160, where higher values represent a better outcome) to assess motor ability | Baseline |
| Measure of autism symptoms | Using the standardized comparison score from the Autism Diagnostic Observation Scale (1-10, where higher values represent a worse outcome) to measure autism | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Measure of Receptive Language Abilities | Using standardized scores from the Peabody Picture Vocabulary Test (20-160, where higher values represent a better outcome) to measure receptive language abilities | Baseline |
| Measure of Expressive Language Abilities |
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Inclusion Criteria:
Exclusion Criteria:
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30 adult subjects with PMS will be enrolled across the 6 sites for this study
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| Name | Affiliation | Role |
|---|---|---|
| Alexander Kolevzon, MD | Seaver Autism Center, Mount Sinai School of Medicine | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford University | Stanford | California | 94305 | United States | ||
| Rush University Medical Center |
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| ID | Term |
|---|---|
| C536801 | Telomeric 22q13 Monosomy Syndrome |
| D000067877 | Autism Spectrum Disorder |
| D008607 | Intellectual Disability |
| ID | Term |
|---|---|
| D002659 | Child Development Disorders, Pervasive |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D019954 | Neurobehavioral Manifestations |
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Blood draw or saliva sample for future correlative studies in the PMS Biorepository of the Developmental Synaptopathies Consortium
Using standardized scores from the Expressive Vocabulary Test (20-160, where higher values represent a better outcome) to measure expressive language abilities |
| Baseline |
| Chicago |
| Illinois |
| 60612 |
| United States |
| National Institutes of Health | Bethesda | Maryland | 20892 | United States |
| Boston Children's Hospital | Boston | Massachusetts | 02115 | United States |
| Icahn School of Medicine at Mount Sinai | New York | New York | 10029 | United States |
| University of Texas Southwestern | Dallas | Texas | 75390 | United States |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |