Our Participants

Date: May 11, 2021

In the last 10 years, Simons Searchlight has evolved to include more than 150 genetic conditions. As part of our 10-year review, we are taking a look at the participants within our community.

In working closely with families across all of our conditions over the last 10 years, we can see one thing: while every child is an individual, we are more alike than we are different. Treatments for developmental challenges in particular may require individualized assessment and precision medicine, but also will be driven by our strength in numbers.”

LeeAnne Green Snyder
Licensed Clinical Psychologist, Clinical Research Scientist, Simons Searchlight

To date, we have over 4,000 families registered in Simons Searchlight. See below for registration numbers broken down by genetic condition. The first chart includes genetic groups with more than 20 registered families, and the second chart includes genetic groups with 5 to 19 registered families.

Simons Searchlight participants are invited to complete a medical history interview (MHI) by phone with our genetic counselors. Below, you will find two tables with information from Simons Searchlight participants. Data from other published research are not included. These tables include people with variants that are classified as pathogenic or likely pathogenic. Variants of uncertain significance (VUS) are not included. People with a VUS are invited to participate, and we reassess variants that are classified as VUS annually.

 

The first table (Table 1) includes genetic groups with Medical History Interviews completed on at least 10 participants. Table 1 contains the percent (%) of people reporting autism spectrum disorder (ASD), developmental delay or intellectual disability (DD/ID), and seizures.

Table 1. Genetic groups with 10 or more MHIs completed (22 groups).

Gene/Copy Number Variant Number of people with MHIs ASD (number) % DD/ID (number) % Seizure (number) %
1q21.1 deletion 47 (11) 23% (17) 36% (3) 6%
1q21.1 duplication 45 (13) 29% (15) 33% (3) 7%
16p11.2 deletion 156 (50) 32% (76) 49% (42) 27%
Distal 16p11.2 deletion 10 (2) 20% (5) 50% (1) 10%
ADNP 16 (11) 69% (14) 88% (4) 25%
ASXL3 16 (11) 69% (14) 88% (4) 25%
CHAMP1 19 (4) 21% (13) 68% (3) 16%
CSNK2A1 21 (6) 29% (18) 86% (8) 38%
CTNNB1 31 (4) 13% (22) 71% (0) 0%
DYRK1A 22 (10) 45% (17) 77% (11) 50%
GRIN2B 42 (11) 26% (33) 79% (7) 17%
HIVEP2 15 (5) 33% (11) 73% (1) 7%
HNRNPH2 19 (3) 16% (19) 100% (4) 21%
MED13L 19 (9) 47% (17) 89% (1) 5%
PACS1 20 (10) 50% (19) 95% (9) 45%
PPP2R5D 58 (19) 33% (51) 88% (27) 47%
SCN2A 83 (36) 43% (68) 82% (63) 75%
SETBP1 17 (3) 18% (10) 59% (1) 6%
SLC6A1 37 (12) 32% (27) 73% (30) 81%
STXBP1 64 (23) 36% (49) 77% (54) 84%
SYNGAP1 30 (15) 50% (23) 77% (23) 77%

 

The second table (Table 2) includes genetic groups with 5 to 9 Medical History Interviews completed. This table summarizes the total number of people reporting autism spectrum disorder (ASD), developmental delay or intellectual disability (DD/ID), and seizures. With more information and participants, we will be able to provide a better clinical picture of these genetic conditions.

Table 2. Genetic groups with 5 to 9 MHIs completed (7 groups).

Gene/Copy Number Variant Number of people with MHIs ASD number DD/ID number Seizure number
7q11.23 duplication 6 4 4 2
ARID1B 6 1 4 0
CHD2 8 6 5 8
CHD8 6 6 5 0
FOXP1 6 3 3 2
GRIN1 6 1 6 3
PTCHD1 5 1 4 1