title: Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.
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.
authors: 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.
authors: Tanjala T
authors: TT
authors: Gipson
authors: 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.
authors: Andrea
authors: A
authors: Poretti
authors: Tuberous Sclerosis Center of Excellence, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Emily A
authors: EA
authors: Thomas
authors: Tuberous Sclerosis Center of Excellence, Kennedy Krieger Institute, Baltimore, MD, USA Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Kosunique T
authors: KT
authors: Jenkins
authors: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Sonal
authors: S
authors: Desai
authors: 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.
authors: Michael V
authors: MV
authors: Johnston
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D001921:Brain / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*
keywords: anxiety and pragmatic language impairment; autism spectrum disorder; epilepsy; tuberous sclerosis complex