DATA

New Quarterly Data Reports – April 2025

Feel free to share this resource with medical providers, educators, and family members who might find it helpful.

The Simons Searchlight Team

Our latest April 2025 Quarterly Reports feature fresh insights from Simons Searchlight participants across 72 genetic communities—including 4 new groups! (full list below).

About This Report

This report highlights updated data from families who continue to share their experiences through Simons Searchlight. In this quarter’s special spotlight, we take a closer look at developmental progress using the Vineland Adaptive Behavior Scales (Vineland-3).

The Vineland-3 survey helps us understand skills related to:

Communication
Daily living and self-care
Socialization
Motor skills (for younger children)

The growth charts in the report illustrate how abilities vary across ages, offering a visual overview of developmental patterns over time. Please note: Only communities with enough completed Vineland surveys will see this spotlight included. Watch this quick tutorial video to learn how to read the charts and better understand the range of abilities by age for your genetic community.

Thank you to the families who make these reports possible! Your continued participation plays a vital role in advancing research and improving care.

Find Your Report

Your quarterly report is posted on your Simons Searchlight webpage (find your gene webpage): bit.ly/Genes_We_Study

Share This Resource

Families are encouraged to share these reports with medical providers, educators, and others who may find them helpful.

Keep Contributing

We are grateful to all the families and patient advocacy partners who make this work possible. Your contributions help drive research forward and expand understanding of these genetic conditions. Please don’t forget to check your dashboard regularly for new surveys to help share your knowledge with Simons Searchlight.

Genetic Communities With Reports:

17q21.31 deletion
15q11.2 BP1-BP2 deletion
15q13.3 deletion
16p11.2 deletion
16p11.2 duplication
16p13.11 deletion
1q21.1 deletion
1q21.1 duplication
2p16.3 deletion
5p deletion
7q11.23 duplication
ADNP
ANK2
ANKRD11
ARID1B
ASXL3
ATRX
AUTS2
CHAMP1
CHD2
CHD8
CLCN4
CSNK2A1
CSNK2B
CTNNB1
CUL3
DEAF1
Distal 16p11.2 deletion
Distal 16p11.2 duplication
DLG4
DYNC1H1
DYRK1A
EHMT1
EIF3F
FOXP1
GRIN1
GRIN2A
GRIN2B
HIVEP2
HNRNPH2
IRF2BPL
KANSL1
KDM6B
KMT2C
KMT2E
MED13
MED13L
MEF2C
NAA15
NRXN1
PACS1
POGZ
PPP2R1A
PPP2R5D
PPP3CA
SCN2A
SETBP1
SETD5
SLC6A1
STXBP1
SYNGAP1
TANC2
TBR1
TLK2
TRIO
TRIP12
WDFY3
ZNF292

4 new groups:

16p12.2 deletion
CNOT3
TAOK1
MYT1L