Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations

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

doi:10.1177/0883073815600871

Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations

J Child Neurol. 2015 Dec;30(14):1871-6. doi: 10.1177/0883073815600871. Epub 2015 Aug 24.

Authors

Tanjala T Gipson¹, Andrea Poretti², Emily A Thomas³, Kosunique T Jenkins³, Sonal Desai⁴, Michael V Johnston⁵

Affiliations

¹ Tuberous Sclerosis Center of Excellence, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA The Clinical Trials Unit, Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA Gipson@kennedykrieger.org.
² Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
³ Tuberous Sclerosis Center of Excellence, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
⁴ Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
⁵ Tuberous Sclerosis Center of Excellence, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA The Clinical Trials Unit, Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA Department of Physical Medicine and Rehabilitation, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

PMID: 26303410
DOI: 10.1177/0883073815600871

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.

Keywords: anxiety and pragmatic language impairment; autism spectrum disorder; epilepsy; tuberous sclerosis complex.

Publication types

Case Reports

MeSH terms

Adolescent
Autism Spectrum Disorder / diagnosis*
Autism Spectrum Disorder / pathology
Autism Spectrum Disorder / physiopathology
Autism Spectrum Disorder / therapy*
Brain / pathology*
Child
Diagnosis, Differential
Humans
Magnetic Resonance Imaging
Male
Phenotype
Tuberous Sclerosis / diagnosis*
Tuberous Sclerosis / pathology
Tuberous Sclerosis / physiopathology
Tuberous Sclerosis / therapy*