Tanjala T. Gipson

Kennedy Krieger Institute | KKI

Background Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and und...

Background Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to me...

Background: Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) are often present but underidentified and undertreated in individuals with tuberous sclerosis complex (TSC). The clinician-completed TAND-Lifetime Checklist (TAND-L) was developed to address this identification and treatment gap. Stakeholder engagement identified t...

Tuberous Sclerosis Complex (TSC), is a neurocutaneous disorder, associated with a high prevalence of autism spectrum disorder (ASD; ∼50% of individuals). As TSC is a leading cause of syndromic ASD, understanding language development in this population would not only be important for individuals with TSC but may also have implications for those with...

Background Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder of non-malignant tumor growths throughout major organ systems and neurological, neuropsychiatric, renal, and pulmonary co-morbidities. Skin manifestations are readily visible, often develop early in life, and are major features that contribute to TSC diagno...

Introduction Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND represents the number one concern to families worldwide, yet is highly under-identified and under-...

Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed,...

Objective To assess early vocalizations as precursors to speech in audio-video recordings of infants with Tuberous Sclerosis Complex (TSC). Methods We randomly selected 40 infants with TSC from the TSC Autism Center of Excellence Research Network (TACERN) dataset. Using human observers, we analyzed 74 audio-video recordings within a flexible softw...

Objective: To determine whether entry into the canonical stage, canonical babbling ratios (CBR) and the level of volubility (vocal measures) are delayed in infants with Tuberous Sclerosis Complex (TSC), we completed human coding of their vocalizations at 12 months and compared the results to typically developing infants with no clinical features (T...

BACKGROUND AND PURPOSE Tuberous sclerosis complex (TSC) is a rare, genetic disease that is associated with multiple manifestations including epilepsy and autism. Self‐injurious behaviors (SIBs) also occur in a subset of patients. This study used diffusion tensor imaging (DTI) in children with TSC for quantitative and volumetric analysis of brain re...

Tuberous sclerosis complex is a genetic neurocutaneous syndrome affecting 1/6000 live births. Neurobiologically, the manifestations have been linked to excessive activity of the protein kinase mammalian target of rapamycin, and treatments to target this aberration are clinically available. Sleep in TSC is a comorbidity that is not often studied; ho...

Objective: Tuberous sclerosis complex is expressed throughout the body, resulting in a range of clinical manifestations that can be challenging to manage. Results: The authors report a patient who presented at age 3.5 years with several suspected seizures and was diagnosed with tuberous sclerosis complex following the discovery of numerous bilat...

Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, an...

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 sc...

Aims: This study explores disparities in identification of educationally relevant comorbidities and medication prescribing practices for children with attention-deficit hyperactivity disorder (ADHD) and either comprehensive neurodevelopmental evaluations or evaluations limited by insurance to behavior management with medication. Methods: This st...

Background Infants born with tuberous sclerosis complex (TSC), a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental...

Background Self-injury and aggression have been reported in individuals with TSC (tuberous sclerosis complex), yet few data exist about treatment. Everolimus, an mTOR inhibitor, has been FDA-approved for subependymal giant cell astrocytomas (SEGAs) and renal angiomyolipomas in TSC. However, clinical use of everolimus with direct, real-time observat...

The Food and Drug Administration (FDA) has approved two mechanism-based treatments for tuberous sclerosis complex (TSC)-everolimus and vigabatrin. However, these treatments have not been systematically studied in individuals with TSC and severe autism. The aim of this review is to identify the clinical features of severe autism in TSC, applicable p...

Objective: This study examined features of early language and motor milestones in children with fragile X syndrome (FXS) and contrasted these features with a diagnosis of Autism Spectrum Disorder (ASD) later in life in these children. Methods: We retrospectively examined parental report of age of onset for walking and first words for primarily b...

To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and fragile X syndrome (FXS), and phosphatase and tensin homolog hamartoma syndromes (PTHS), which are ne...