Literature DB >> 11591847

Autism in tuberous sclerosis complex is related to both cortical and subcortical dysfunction.

E Asano1, D C Chugani, O Muzik, M Behen, J Janisse, R Rothermel, T J Mangner, P K Chakraborty, H T Chugani.   

Abstract

OBJECTIVE: To examine the relationship between autism and epilepsy in relation to structural and functional brain abnormalities in children with tuberous sclerosis complex (TSC).
METHODS: Children with TSC and intractable epilepsy underwent MRI as well as PET scans with 2-deoxy-2-[(18)F]fluoro-D-glucose (FDG) and alpha-[(11)C]methyl-L-tryptophan (AMT). Based on the results of Autism Diagnostic Interview-Revised, Gilliam Autism Rating Scale, and overall adaptive behavioral composite (OABC) from Vineland Adaptive Behavior Scale, subjects were divided into three groups: autistic (OABC < 70; n = 9), mentally-retarded nonautistic (OABC < 70; n = 9), and relatively normal intelligence (OABC > or = 70; n = 8).
RESULTS: PET studies showed that the autistic group had decreased glucose metabolism in the lateral temporal gyri bilaterally, increased glucose metabolism in the deep cerebellar nuclei bilaterally, and increased AMT uptake in the caudate nuclei bilaterally, compared to the mentally-retarded nonautistic group. In addition, a history of infantile spasms and glucose hypometabolism in the lateral temporal gyri were both significantly associated with communication disturbance. Glucose hypermetabolism in the deep cerebellar nuclei and increased AMT uptake in the caudate nuclei were both related to stereotypical behaviors and impaired social interaction, as well as communication disturbance.
CONCLUSIONS: These results suggest that generalized epilepsy in early life and functional deficits in the temporal neocortices may be associated with communication delays, and that functional imbalance in subcortical circuits may be associated with stereotypical behaviors and impaired social interaction in children with TSC.

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Year:  2001        PMID: 11591847     DOI: 10.1212/wnl.57.7.1269

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  45 in total

1.  Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders.

Authors:  William W Lewis; Mustafa Sahin; Benoit Scherrer; Jurriaan M Peters; Ralph O Suarez; Vanessa K Vogel-Farley; Shafali S Jeste; Matthew C Gregas; Sanjay P Prabhu; Charles A Nelson; Simon K Warfield
Journal:  Cereb Cortex       Date:  2012-06-01       Impact factor: 5.357

Review 2.  Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders.

Authors:  Mustafa Sahin; Mriganka Sur
Journal:  Science       Date:  2015-10-15       Impact factor: 47.728

Review 3.  α-[¹¹C]-methyl-L-tryptophan PET for tracer localization of epileptogenic brain regions: clinical studies.

Authors:  Ajay Kumar; Eishi Asano; Harry T Chugani
Journal:  Biomark Med       Date:  2011-10       Impact factor: 2.851

4.  Restoration of Normal Cerebral Oxygen Consumption with Rapamycin Treatment in a Rat Model of Autism-Tuberous Sclerosis.

Authors:  Oak Z Chi; Chang-Chih Wu; Xia Liu; Kang H Rah; Estela Jacinto; Harvey R Weiss
Journal:  Neuromolecular Med       Date:  2015-06-06       Impact factor: 3.843

5.  Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin.

Authors:  Itzamarie Chévere-Torres; Jordan M Maki; Emanuela Santini; Eric Klann
Journal:  Neurobiol Dis       Date:  2011-07-30       Impact factor: 5.996

Review 6.  Potential for treatment of severe autism in tuberous sclerosis complex.

Authors:  Tanjala T Gipson; Gwendolyn Gerner; Mary Ann Wilson; Mary E Blue; Michael V Johnston
Journal:  World J Clin Pediatr       Date:  2013-08-08

Review 7.  Connecting genes to brain in the autism spectrum disorders.

Authors:  Brett S Abrahams; Daniel H Geschwind
Journal:  Arch Neurol       Date:  2010-04

8.  Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice.

Authors:  Catherine J Stoodley; Anila M D'Mello; Jacob Ellegood; Vikram Jakkamsetti; Pei Liu; Mary Beth Nebel; Jennifer M Gibson; Elyza Kelly; Fantao Meng; Christopher A Cano; Juan M Pascual; Stewart H Mostofsky; Jason P Lerch; Peter T Tsai
Journal:  Nat Neurosci       Date:  2017-10-30       Impact factor: 24.884

Review 9.  Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects.

Authors:  Mary B Connolly; Glenda Hendson; Paul Steinbok
Journal:  Childs Nerv Syst       Date:  2006-06-13       Impact factor: 1.475

10.  Hippocampal abnormalities in an MR imaging series of patients with tuberous sclerosis.

Authors:  H P P Gama; A J da Rocha; R M F Valério; C J da Silva; L A L Garcia
Journal:  AJNR Am J Neuroradiol       Date:  2010-01-06       Impact factor: 3.825

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