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Neurology. 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.

Author information

1
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. sjeste@mednet.ucla.edu.
2
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.

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.

PMID:
27440144
PMCID:
PMC4999317
DOI:
10.1212/WNL.0000000000003002
[Indexed for MEDLINE]
Free PMC Article

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