Evidence map›Paper›PMID 27440144›Full record

ArticleNeurology2016

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex.

Shafali S Jeste, Kandice J Varcin, Gerhard S Hellemann, Amanda C Gulsrud, Rujuta Bhatt, Connie Kasari, Joyce Y Wu, Mustafa Sahin, Charles A Nelson

Open access · greenAbstract read
In one paragraph

Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 1 pooled it
7.2field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.

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  5. Tuberous sclerosis complex.Nature reviews. Disease primers · 2026
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2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Shafali S JesteFrom 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. sjeste@mednet.ucla.edu.
Kandice J VarcinFrom 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.
Gerhard S HellemannFrom 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.
Amanda C GulsrudFrom 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.
Rujuta BhattFrom 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.
Connie KasariFrom 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.
Joyce Y WuFrom 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.
Mustafa SahinFrom 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.
Charles A NelsonFrom 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.
Boston Children's Hospital · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SAHIN, MUSTAFA · 2016 to 2020
$5.2M
NCATS NIH HHS UL1 TR000124NICHD NIH HHS U54 HD090255
6 · The paper itself

Abstract

objectiveTo 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.

methodsMeasures 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.

resultsChildren 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.

conclusionsThis 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.

Indexed as

Autism Spectrum DisorderChild, PreschoolCognitive DysfunctionEpilepsyFemaleHumansInfantMaleSocial Communication DisorderTuberous Sclerosis

Identifiers

PMID27440144
PMCPMC4999317
OpenAlexW2488082771

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.