Autism Phenotypes in Tuberous Sclerosis Complex

Diagnostic and Treatment Considerations

Tanjala Gipson, Andrea Poretti, Emily A. Thomas, Kosunique T. Jenkins, Sonal Desai, Michael V. Johnston

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span.

Original languageEnglish (US)
Pages (from-to)1871-1876
Number of pages6
JournalJournal of child neurology
Volume30
Issue number14
DOIs
StatePublished - Dec 1 2015

Fingerprint

Tuberous Sclerosis
Autistic Disorder
Phenotype
Therapeutics
Intellectual Disability
Epilepsy
Language
Anxiety
Autism Spectrum Disorder
Growth
Neoplasms

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Autism Phenotypes in Tuberous Sclerosis Complex : Diagnostic and Treatment Considerations. / Gipson, Tanjala; Poretti, Andrea; Thomas, Emily A.; Jenkins, Kosunique T.; Desai, Sonal; Johnston, Michael V.

In: Journal of child neurology, Vol. 30, No. 14, 01.12.2015, p. 1871-1876.

Research output: Contribution to journalArticle

Gipson, Tanjala ; Poretti, Andrea ; Thomas, Emily A. ; Jenkins, Kosunique T. ; Desai, Sonal ; Johnston, Michael V. / Autism Phenotypes in Tuberous Sclerosis Complex : Diagnostic and Treatment Considerations. In: Journal of child neurology. 2015 ; Vol. 30, No. 14. pp. 1871-1876.
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