Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Aug 23;87(8):766-72.
doi: 10.1212/WNL.0000000000003002. Epub 2016 Jul 20.

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

Shafali S Jeste  1 , Kandice J Varcin  2 , Gerhard S Hellemann  2 , Amanda C Gulsrud  2 , Rujuta Bhatt  2 , Connie Kasari  2 , Joyce Y Wu  2 , Mustafa Sahin  2 , Charles A Nelson 3rd  2
Affiliations

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

Shafali S Jeste et al. Neurology. .

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Cognitive domains across 4 groups: Typically developing (TD), tuberous sclerosis complex (TSC)/no autism spectrum disorder (ASD), nonsyndromic ASD (nsASD), and TSC/ASD
Mullen T scores by ASD groupings in TSC, TD children, and nonsyndromic ASD.
Figure 2
Figure 2. Item-level comparison of Autism Diagnostic Observation Schedule (ADOS) scores across 4 groups: Typically developing (TD), tuberous sclerosis complex (TSC)/no autism spectrum disorder (ASD), nonsyndromic ASD (nsASD), and TSC/ASD
Item-level ADOS profiles for each group: TD, TSC/no ASD, nsASD, TSC/ASD.
See this image and copyright information in PMC

References

    1. Crino PB. Evolving neurobiology of tuberous sclerosis complex. Acta Neuropathol 2013;125:317–332. - PubMed
    1. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015;14:733–745. - PubMed
    1. 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. - PMC - PubMed
    1. 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. - PubMed
    1. 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. - PubMed

MeSH terms