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Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial

Latha Valluripalli Soorya1, Camille W Brune1, Cristan A Farmer1

  • 1Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Camille W. Brune, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Cristan A. Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Edith V. Ocampo, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Natalie I. Berger, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Deborah A. Pearson, Faillace Department of Psychiatry and Behavioral Sciences, McGovern Medical School, University of Texas Health Science Center at Houston; Robyn M. Busch, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and Department of Neurology and Epilepsy Center, Cleveland Clinic; Patricia Klaas, Center for General Neurology, Cleveland Clinic; Paige Siper, Seaver Autism Center for Research and Treatment, Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Kristn Currans, Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center; Amanda C. Gulsrud, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles; Jennifer M. Phillips, Department of Psychiatry and Behavioral Sciences, Stanford University, Rajna Filip-Dhima, Department of Neurology, Boston Children's Hospital, Harvard University; Sarah E. O'Kelley, Department of Psychology and Pediatrics, University of Alabama at Birmingham; Thomas W. Frazier, Department of Psychology, John Carroll University, Research Faculty, Departments of Pediatrics and Psychiatry at SUNY Upstate Medical University; Tess Levy, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Allison L. Wainer, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Joseph D. Buxbaum, Seaver Autism Center, Icahn School of Medicine at Mount Sinai; Craig M. Powell, Civitan International Research Center, University of Alabama at Birmingham; Jonathan A. Bernstein, Stanford University School of Medicine; Simon K. Warfield, Harvard University Medical School, and Department of Radiology, Boston Children's Hospital; Darcy A. Krueger, Cincinnati Children's Hospital Medical Center; E. Martina Bebin, University of Alabama at Birmingham; Hope Northrup, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Shafali S. Jeste, Keck School of Medicine, University of Southern California, and Children's Hospital Los Angeles; Alexander Kolevzon, Icahn School of Medicine at Mount Sinai; Elizabeth Berry-Kravis, Rush University Medical Center; Mustafa Sahin, Department of Neurology, Boston Children's Hospital, Harvard Medical School; Siddharth Srivastava, Boston Children's Hospital and Assistant Professor of Neurology, Harvard Medical School; Audrey Thurm, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health.

American Journal on Intellectual and Developmental Disabilities
|August 26, 2025
PubMed
Summary

Standard cognitive and behavioral assessments are often unsuitable for children with rare neurogenetic disorders like Phelan-McDermid syndrome, Tuberous Sclerosis Complex, and PTEN Hamartoma Tumor syndrome due to intellectual disability severity, impacting clinical trial readiness.

Keywords:
PTEN Hamartoma Tumor syndromePhelan McDermid syndromeautism spectrum disorderclinical trial readinessintellectual disabilityneurodevelopmental disordersneuropsychological assessmenttuberous sclerosis complex

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Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Clinical Trial Design

Background:

  • The Developmental Synaptopathies Consortium studies rare neurogenetic syndromes.
  • Clinical trial readiness is a key aim, requiring validated outcome measures.
  • Phelan-McDermid syndrome (PMS), Tuberous Sclerosis Complex (TSC), and PTEN Hamartoma Tumor syndrome (PHTS) are target conditions.

Purpose of the Study:

  • To evaluate the scope and limitations of current cognitive and behavioral assessments.
  • To identify challenges in measuring clinical concepts for trial readiness in specific neurodevelopmental conditions.

Main Methods:

  • Natural history study of 2-21-year-olds with PMS (N=98), TSC (N=98), and PHTS (N=69).
  • Assessment of cognitive and behavioral measurement strategies.
  • Analysis of intellectual disability severity and its impact on assessment validity.

Main Results:

  • Intellectual disability severity varied: severe-to-profound in PMS, mild-to-moderate in TSC, and borderline/absent in PHTS.
  • High intellectual disability severity invalidated many standard assessments, including autism diagnostic tools.
  • Limitations identified in current measurement strategies for these populations.

Conclusions:

  • Conventional cognitive and behavioral measures are frequently inadequate for children with severe intellectual disability in PMS, TSC, and PHTS.
  • These findings highlight critical gaps for clinical trial planning in rare neurodevelopmental disorders.
  • Revising assessment strategies is crucial for advancing clinical research and trial readiness.