AAN.com
Quick search in Citations
AnywhereCitation
Advanced Search
Trending Terms:
Article
July 20, 2016

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

Shafali S. Jeste, MD, Kandice J. Varcin, PhD, Gerhard S. Hellemann, PhD, Amanda C. Gulsrud, PhD, Rujuta Bhatt, MD, Connie Kasari, PhD, Joyce Y. Wu, MD, Mustafa Sahin, MD, PhD, and Charles A. Nelson III, PhDAuthors Info & Affiliations
August 23, 2016 issue
87 (8) 766-772
https://doi.org/10.1212/WNL.0000000000003002
Letters to the Editor
Track CitationsAdd to favorites
Get Access

Abstract

Objective:

To determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and epilepsy severity in toddlers with TSC and comorbid ASD. This is the endpoint analysis from a longitudinal investigation of ASD risk factors in children with TSC.

Methods:

Measures included the Autism Diagnostic Observation Schedule (ADOS), the Mullen Scales of Early Learning, and clinical epilepsy variables. A repeated-measures analysis of variance was performed with between-subjects factor of group (typically developing, TSC/no ASD, TSC/ASD, nsASD) and within-subjects factors of individual ADOS item scores in the social communication and repetitive behavior/restricted interest domains. Within the TSC group, comparisons of epilepsy characteristics and cognitive domains were performed using independent-samples t tests.

Results:

Children with TSC/ASD demonstrated a profile of social communication impairment that had complete convergence with nsASD. Measured social communication impairments included gestures, pointing, eye contact, responsive social smile, and shared enjoyment. This convergence was observed despite the high comorbidity between ASD and cognitive impairment in TSC.

Conclusions:

This study supports the clinical diagnosis of ASD in young children with TSC and demonstrates remarkable convergence of autism symptoms between TSC/ASD and nsASD. Our results strongly suggest the need for early intervention in toddlers with TSC, with treatment strategies targeting social communication function as well as broader developmental domains, before the onset of autism symptoms.

Get full access to this article

View all available purchase options and get full access to this article.

Get Access

Supplementary Material

File (supplemental_table_e-1.docx)
File (supplementary_figure_e-1.pdf)
File (supplementary_figure_e-2.pdf)

REFERENCES

1.
Crino PB. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol 2013;125:317–332.
Crossref
PubMed
Google Scholar
2.
Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015;14:733–745.
Crossref
PubMed
Google Scholar
3.
de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol 2015;52:25–35.
Crossref
PubMed
Google Scholar
4.
Bolton PF, Park RJ, Higgins JN, Griffiths PD, Pickles A. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain 2002;125:1247–1255.
Crossref
PubMed
Google Scholar
5.
Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol 2008;23:520–525.
Crossref
PubMed
Google Scholar
6.
Richards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry 2015;2:909–916.
Crossref
PubMed
Google Scholar
7.
Datta AN, Hahn CD, Sahin M. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol 2008;23:268–273.
Crossref
PubMed
Google Scholar
8.
Bateup HS, Johnson CA, Denefrio CL, Saulnier JL, Kornacker K, Sabatini BL. Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis. Neuron 2013;78:510–522.
Crossref
PubMed
Google Scholar
9.
Tye C, Bolton P. Neural connectivity abnormalities in autism: insights from the Tuberous Sclerosis model. BMC Med 2013;11:55.
Crossref
PubMed
Google Scholar
10.
Tsai PT, Hull C, Chu Y, et al. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature 2012;488:647–651.
Crossref
PubMed
Google Scholar
11.
Davis PE, Peters JM, Krueger DA, Sahin M. Tuberous sclerosis: a new frontier in targeted treatment of autism. Neurotherapeutics 2015;12:572–583.
Crossref
PubMed
Google Scholar
12.
Moss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 2009;53:852–873.
Crossref
PubMed
Google Scholar
13.
van Eeghen AM, Pulsifer MB, Merker VL, et al. Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach. Dev Medicine Child Neurol 2013;55:146–153.
Crossref
PubMed
Google Scholar
14.
Jeste SS, Wu JY, Senturk D, Varcin K, et al. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology 2014;83:160–168.
Crossref
PubMed
Google Scholar
15.
Lord C, Storoschuk S, Rutter M, Pickles A. Using the ADI-R to diagnose autism in preschoolers. Infant Ment Health J 1993;14:234–252.
Crossref
Google Scholar
16.
Lord C, Rutter M, DiLavore PC, Risi S. Autism Diagnostic Observation Schedule. Los Angeles: Western Psychological Services; 2001.
Google Scholar
17.
Humphrey A, Ploubidis GB, Yates JR, Steinberg T, Bolton PF. The Early Childhood Epilepsy Severity Scale (E-Chess). Epilepsy Res 2008;79:139–145.
Crossref
PubMed
Google Scholar
18.
Mullen EM. Mullen Scales of Early Learning: AGS Edition. Circle Pines, MN: American Guidance Service; 1995.
Google Scholar
19.
Lord C, Risi S, Lambrecht L, et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30:205–223.
Crossref
PubMed
Google Scholar
20.
Gotham K, Risi S, Pickles A, Lord C. The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity. J Autism Dev Disord 2007;37:613–627.
Crossref
PubMed
Google Scholar
21.
Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol 2014;10:74–81.
Crossref
PubMed
Google Scholar
22.
Prather P, de Vries P. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol 2004;19:666–674.
Crossref
PubMed
Google Scholar
23.
de Vries PJ, Hunt A, Bolton PF. The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families. Eur J Child Adolesc Psychiatry 2007;16:16–24.
Crossref
PubMed
Google Scholar
24.
Curatolo P, Napolioni V, Moavero R. Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment. J Child Neurology 2010;25:873–880.
Crossref
PubMed
Google Scholar
25.
Humphrey A, Williams J, Pinto E, Bolton PF. A prospective longitudinal study of early cognitive development in tuberous sclerosis: a clinic based study. Eur J Child Adolesc Psychiatry 2004;13:159–165.
Crossref
PubMed
Google Scholar
26.
Peters JM, Taquet M, Vega C, et al. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity. BMC Med 2013;11:54.
Crossref
PubMed
Google Scholar
27.
Bruining H, Eijkemans MJ, Kas MJ, Curran SR, Vorstman JA, Bolton PF. Behavioral signatures related to genetic disorders in autism. Mol Autism 2014;5:11.
Crossref
PubMed
Google Scholar
28.
Joinson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med 2003;33:335–344.
Crossref
PubMed
Google Scholar

Information & Authors

Information

Published In

Neurology®
Volume 87 • Number 8 • August 23, 2016
Pages: 766-772
PubMed: 27440144

Copyright

© 2016 American Academy of Neurology.

Publication History

Received: November 24, 2015
Accepted: May 17, 2016
Published online: July 20, 2016
Published in print: August 23, 2016

Permissions

Request permissions for this article.

Disclosure

S. Jeste serves as a consultant for Roche Pharmaceuticals and on the professional advisory board for the Tuberous Sclerosis Alliance. K. Varcin, G. Hellemann, A. Gulsrud, R. Bhatt, and C. Kasari report no disclosures relevant to the manuscript. J. Wu serves on the professional advisory board for the Tuberous Sclerosis Alliance; and has received honoraria from and serves on the scientific advisory board and the speakers' bureau for Novartis Pharmaceuticals Inc. and Lundbeck. M. Sahin receives research support from Novartis and Shire and is on the Scientific Advisory Board of Sage Therapeutics. Dr. Nelson reports no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

Study Funding

Supported by Department of Defense (DOD CDMRP TSCRP: 2011–2014) and UCLA CTRC UL1TR000124.

Authors

Affiliations & Disclosures

Shafali S. Jeste, MD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
PriMed Conference, Los Angeles 2016
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
F.Hoffman-La Roche, Ltd (2013 to present)
Speakers' Bureaus:
1.
Medical Education Speakers Bureau
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Department of Defense, DOD CDMRP TSCRP: PI, 2015-2017. U19 MH108206: Jeste Site PI: 2015-2019 U54HD087101-01 (Bookheimer), coinvestigator, 2015-2019 2P50HD055784-08 Bookheimer (PI); co-investigator, 2012-2017 M13A11486 Pelphrey (PI), co-investigator, 2012-2017 1K23MH094517?02 Jeste (PI), 2011-2016 FDP-NIH ES022389 (Vonehrenstein) PI, co-investigator
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Kandice J. Varcin, PhD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Gerhard S. Hellemann, PhD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
VA; IIR-13-319 (VA HSR&D) Cohen, Amy (PI) 5/1/15-10/31/16 Motivationally Enhanced Mobile Delivery of MOVE! to Veterans with Mental Illness Role: Co-Investigator/Statistician UA3MC11055 (HRSA) Kasari(PI) 09/01/2015 ? 08/31/2018 Autism Intervention Research Network on Behavioral Health (AIR-B Network) This network supports innovative projects to develop behavioral interventions in autism and to disseminate information about autism to the broader community. Role: Co-Investigator/Statistician R01 HD073975 (NIH) Kasari (PI) 09/04/2012 - 05/31/2017 Adaptive Interventions for Minimally Verbal Children with ASD in the Community This ACE network seeks to construct an adaptive intervention using two efficacious interventions (JASP- EMT and COREDTT) that have shown promise for optimizing the number of unique socially communicative and spontaneously spoken words in minimally verbal children with ASD. The study utilizes a novel sequential multiple assignment, randomized trial to evaluate and construct an optimal adaptive intervention. Role: Statistician Data Core R01DA036487-02 (NIDA) London, Edythe(PI) 9/20/13-8/31/2016 Behavioral And Neural Response To Reduced Nicotine Cigarettes In Young Smokers The goal of this project is to advance tobacco regulatory science by testing the effects of reduced nicotine-yield cigarettes in young adult (18-25 years old) smokers. Role: Co-Investigator/Statistician R21DA040156-01 (NIDA) London, Edythe(PI) 7/1/15-6/30/2016 Attentional Bias Modification in Methamphetamine Use Disorder The goal of this project is to study Attentional Bias Modification in Methamphetamine Use Disorder. Role: Co-Investigator/Statistician R21MH102567-01A1 (NIMH) Lee, Junghee(PI) 7/1/14-6/30/16 Social Preference System And Social Cognition In Schizophrenia Role: Co-Investigator/Statistician R01MH105662 (NIMH) Feusner, Jaime(PI) 7/5/15-3/31/2016 Anxiety And Reward Interaction And Prediction Of Outcomes In Anorexia Nervosa Role: Co-Investigator/Statistician U19 MH108206 (NIMH) McPartland (PI) 07/01/2015-06/30/2019 The Autism Biomarkers Consortium for Clinical Trials The goal of this consortium is to establish tools that can be used as biomarkers and/or sensitive and reliable objective assays of social impairment in autism spectrum disorder (ASD) clinical trials. The consortium will conduct a naturalistic, longitudinal study of preschool (3-5 years) and school-aged (6-11 years) children with ASD and typical development (TD) with IQ ranging from 50- 115. Role: Co-Investigator/Director of Analytics
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Amanda C. Gulsrud, PhD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
1. DCFS Special Needs Training, Stipend
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Rujuta Bhatt, MD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
American Academy of Neurology, payment for being a plenary speaker at the American Academy of Neurology Annual Meeting
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Connie Kasari, PhD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
Associate editor of Special issue for Journal of Intellectual and Developmental Disabilities Research, 2015-2016
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
HRSA ongoing since 2008--2010--AIR-B network NIH 2012-2017 ACE network Institute of Educational Sciences--2015-2017--pilot SMART
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Merck Foundation---2014-2018 Autism Speaks---2013-2016
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Joyce Y. Wu, MD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
Tuberous Sclerosis Alliance, member of Professional Advisory Board, 2006-present
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
Novartis, site principal investigator for clinical trials and investigator-initiated studies, 2009-present
Research Support, Government Entities:
1.
1) NIH/NINDS - P20 NS080199, Site PI, 2012-2016; 2) NIH/NINDS - U01 NS 082320, Site PI, 2012-2017; 5) NIH/NINDS - R01 NS 082649, PI, 2013-2018; 6) DOD - TS100029, Site PI, 2011-2015; 7) DOD - TS100017, Site PI, 2013-2014; 8) NIH/NINDS - U54 NS 092090, Site PI, 2014-2019
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Tuberous Sclerosis Alliance; Today's and Tomorrow's Children Fund
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Mustafa Sahin, MD, PhD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
Sage Therapeutics: member of the Scientific Advisory Board
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
1) Pediatric Neurology, Associate Editor, 2013-present
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
(1) Novartis (2) Roche (3) Shire (4) Pfizer
Research Support, Government Entities:
1.
NIH 1U01NS082320-01 (Sahin, M., and Krueger D, P.I.s) 09/01/12-08/31/17 NIH (Bebin, M., P.I. ? Uni of Alabama at Birmingham) 07/01/12 - 06/30/15 Sahin Role- co-investigator NIH/NICHD P30 HD018655-31 (Pomeroy, PI) 09/29/11-6/30/16 Intellectual and Developmental Disabilities Research Center This is to provide state of the art translation core facilities to all projects within the IDDRC program. Sahin Role: Component Director, Translational Neuroscience Subcore Department of Defense TS120087 (Sahin, M, P.I.) 02/01/2013-01/31/2016
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Tuberous Sclerosis Alliance Autism Speaks Nancy Lurie Marks Foundation
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author
Charles A. Nelson III, PhD
From the UCLA Semel Institute of Neuroscience and Human Behavior (S.S.J., G.S.H., A.C.G., R.B., C.K.) and Division of Pediatric Neurology, Mattel Children's Hospital UCLA (R.B., J.Y.W.), David Geffen School of Medicine, Los Angeles, CA; Laboratories of Cognitive Neuroscience, Division of Developmental Medicine (K.J.V., C.A.N.), and F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology (M.S.), Boston Children's Hospital/Harvard Medical School; and Harvard Graduate School of Education (C.A.N.), Harvard University, Cambridge, MA.
Disclosure
Scientific Advisory Boards:
1.
Serve on SAB of the Merck Foundation. I receive $2000 for this role. I serve as a grant reviewer
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
Developmental Science (co-editor in chief; current) I review for dozens of journals, too many to list here
Patents:
1.
NONE
Publishing Royalties:
1.
will receive royalties for book “Romania's abandoned children: deprivation, brain development and the struggle for recovery “(Harvard Press, 2014) I also receive royalties for a book published by MIT Press, “Handbook of Developmental Cognitive Neuroscience”
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
Jansen Pharma (not since 2014) Georgia public defender's office (not since 2015) US Dept of Justice (current)
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
see above
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
View all articles by this author

Notes

Correspondence to Dr. Jeste: [email protected]
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Author Contributions

Dr. Jeste was primarily responsible for study design, supervision of data acquisition, behavioral and clinical data analysis, and manuscript preparation. Dr. Varcin was actively involved in processing and analysis of clinical data and manuscript preparation and revisions. Dr. Hellemann was primarily responsible for statistical analysis of data and contributed to manuscript preparation. Dr. Gulsrud was actively involved in data collection, processing and analysis of clinical data, and manuscript preparation and revisions. Dr. Bhatt was actively involved with data analysis and manuscript preparation and revisions. Dr. Wu was involved with study design, analysis of the clinical data, and manuscript preparation and revisions. Dr. Sahin was involved with study design and manuscript preparation. Dr. Nelson was primary responsible for study design, study implementation, data analysis, and manuscript preparation and revisions.

Metrics & Citations

Metrics

Citation information is sourced from Crossref Cited-by service.

Citations

Download Citations

If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Select your manager software from the list below and click Download.

Cited By
    • Siddharth Srivastava,
    • Mustafa Sahin,
    Chapter 17. Tuberous Sclerosis Complex, Textbook of Autism Spectrum Disorders, Second Edition, (277-288), (2024).https://doi.org/10.1176/appi.books.9781615379521.lg17
    Crossref
    • Debra L. Reisinger,
    • Walter E. Kaufmann,
    • Craig A. Erickson,
    Chapter 15. Overview of Syndromic Causes of ASD and Commonalities in Neurobiological Pathways, Textbook of Autism Spectrum Disorders, Second Edition, (251-263), (2024).https://doi.org/10.1176/appi.books.9781615379521.lg15
    Crossref
    • Jennifer M. Bain,
    • Randi J. Hagerman,
    Chapter 3. Pediatric and Neurological Assessments, Textbook of Autism Spectrum Disorders, Second Edition, (79-90), (2024).https://doi.org/10.1176/appi.books.9781615379521.lg03
    Crossref
    • Nicole M. McDonald,
    • Sydney Jacobs,
    • Carly Hyde,
    • Connie Kasari,
    • Shafali S. Jeste,
    Measurement of Developmental and Behavioral Concerns in Toddlers With Tuberous Sclerosis Complex, Pediatric Neurology, 155, (62-67), (2024).https://doi.org/10.1016/j.pediatrneurol.2024.03.014
    Crossref
    • Isabela Drehmer,
    • Júlio Santos-Terra,
    • Carmem Gottfried,
    • Iohanna Deckmann,
    mTOR signaling pathway as a pathophysiologic mechanism in preclinical models of autism spectrum disorder, Neuroscience, 563, (33-42), (2024).https://doi.org/10.1016/j.neuroscience.2024.10.050
    Crossref
    • Kyra Lubbers,
    • Kamil R. Hiralal,
    • Gwendolyn C. Dieleman,
    • Doesjka A. Hagenaar,
    • Bram Dierckx,
    • Jeroen S. Legerstee,
    • Pieter F.A. de Nijs,
    • André B. Rietman,
    • Rianne Oostenbrink,
    • Karen G.C.B. Bindels-de Heus,
    • Marie-Claire Y. de Wit,
    • Manon H.J. Hillegers,
    • Leontine W. ten Hoopen,
    • Sabine E. Mous,
    Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1, Journal of Autism and Developmental Disorders, (2024).https://doi.org/10.1007/s10803-024-06557-2
    Crossref
    • Ayşegül Danış,
    • Fatma Hancı,
    Epilepsy and drug-resistant epilepsy in neurocutaneous syndromes, Northwestern Medical Journal, 3, 1, (50-55), (2023).https://doi.org/10.54307/NWMJ.2023.77486
    Crossref
    • Magdalena Gąssowska-Dobrowolska,
    • Grzegorz A. Czapski,
    • Magdalena Cieślik,
    • Karolina Zajdel,
    • Małgorzata Frontczak-Baniewicz,
    • Lidia Babiec,
    • Agata Adamczyk,
    Microtubule Cytoskeletal Network Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders, International Journal of Molecular Sciences, 24, 8, (7303), (2023).https://doi.org/10.3390/ijms24087303
    Crossref
    • Cyrille Feybesse,
    • Sylvie Chokron,
    • Sylvie Tordjman,
    Melatonin in Neurodevelopmental Disorders: A Critical Literature Review, Antioxidants, 12, 11, (2017), (2023).https://doi.org/10.3390/antiox12112017
    Crossref
    • Tanjala T. Gipson,
    • D. Kimbrough Oller,
    • Daniel S. Messinger,
    • Lynn K. Perry,
    Understanding speech and language in tuberous sclerosis complex, Frontiers in Human Neuroscience, 17, (2023).https://doi.org/10.3389/fnhum.2023.1149071
    Crossref
  11. See more

View Options

Login options

Check if you have access through your login credentials or your institution to get full access on this article.

Personal login Institutional Login
Purchase Options

The neurology.org payment platform is currently offline. Our technical team is working as quickly as possible to restore service.

If you need immediate support or to place an order, please call or email customer service:

  • 1-800-638-3030 for U.S. customers - 8:30 - 7 pm ET (M-F)
  • 1-301-223-2300 for customers outside the U.S. - 8:30 - 7 pm ET (M-F)
  • [email protected]

We appreciate your patience during this time and apologize for any inconvenience.

View options

PDF and All Supplements

Download PDF and Supplementary Material

Full Text

View Full Text

Full Text HTML

View Full Text HTML

Media

Figures

Other

Tables

Share

Share

Share article link

Share

View full text|Download PDF