Ethics approval and consent to participate
The study was approved by the Institutional Review Board (IRB-P00021244 and IRB-P00013300) at Boston Children's Hospital, which serves as the central IRB for all the sites included in this study. Informed consent was obtained from the legal guardians of all participants and assent was obtained from participants when appropriate.
Consent for publication
Not Applicable.
Availability of data and materials
The datasets analyzed during the current study are available from the corresponding author on reasonable request.
Competing interests
The authors declare that they have no competing interests.
Funding
Research reported in this publication was supported by the National Institute Of Neurological Disorders And Stroke of the National Institutes of Health (NINDS), Eunice Kennedy Shriver National Institute Of Child Health & Human Development (NICHD), National Institute Of Mental Health (NIMH) and National Center For Advancing Translational Sciences (NCATS), and by the Child Neurology Foundation.
Authors' contributions
MGM and ARL assisted with study design, data analysis, data interpretation and manuscript preparation. EBK, JDB, LEE, JHFF, AK, MEM, MWM, CMP, PMS, LS, A Thurm and MS contributed to study design and data collection. CAN contributed to study design, data collection, and data interpretation. A Thaliath contributed to data collection. BZ performed statistical analyses. All authors read and approved the final manuscript.
Acknowledgements
The Developmental Synaptopathies Consortium (U54NS092090) is part of the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center For Advancing Translational Sciences (NCATS). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health (NIH).
We are sincerely indebted to the generosity of the families and patients in PMS clinics across the United States who contributed their time and effort to this study. We would also like to thank the Phelan-McDermid Syndrome Foundation for their continued support in PMS research.
Members of the Developmental Synaptopathies Consortium (DSC) – Phelan-McDermid Syndrome Group include:
Mustafa Sahin, MD, PhD a, b
Alexander Kolevzon, MD c, d
Joseph Buxbaum, PhD c, d, e, f
Elizabeth Berry Kravis, MD, PhD g, h, i
Latha Soorya, PhD j
Audrey Thurm, PhD k
Craig Powell, MD, PhD l, m
Jonathan A Bernstein, MD, PhD n
Simon Warfield, PhD o
Benoit Scherrer, PhD o
Rajna Filip-Dhima, MS a
Kira Dies, ScM, CGC a
Paige Siper, PhD c
Ellen Hanson, PhD p
Jennifer M. Phillips, PhD q
Affiliations for above:
a Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA
b F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA
c Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY
d Department of Psychiatry, Mount Sinai School of Medicine, New York, NY
e Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY
f Department of Neuroscience, Mount Sinai School of Medicine, New York, NY
g Department of Pediatrics, Rush University Medical Center, Chicago, IL
h Department of Neurological Sciences, Rush University Medical Center, Chicago, IL
i Department of Biochemistry, Rush University Medical Center, Chicago, IL
j Department of Psychiatry, Rush University Medical Center, Chicago, IL
k Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD
l Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center,Dallas, TX
m Department of Psychiatry and Neuroscience Graduate Program, University of Texas Southwestern Medical Center, Dallas, TX
n Department of Pediatrics, Stanford University School of Medicine, Stanford, CA o Department of Radiology, Boston Children’s Hospital, Harvard Medical School, Boston, MA p Department of Developmental Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA
q Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA