International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

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 under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific.

Understanding speech and language in tuberous sclerosis complex.

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 other causes of syndromic and idiopathic ASD. In this mini review, we consider what is known about language development in this population and how speech and language in TSC are related to ASD.

Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care.

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 diagnosis. Medical photographs of such manifestations are commonly shown as examples from White individuals creating a potential barrier to accurately identifying these features in darker skinned individuals.

Early Vocal Development in Tuberous Sclerosis Complex.

Background: Our goal was to assess for the first time 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 dataset. Using human observers, we analyzed 74 audio-video recordings within a flexible software-based coding environment.

Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self-Injurious Behavior and Tuberous Sclerosis Complex.

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 regions that have been associated with SIB in other genetic conditions.

Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis: A case report .

Background: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease.

Case Presentation: A 38-year-old woman was referred to Kennedy Krieger Institute for comprehensive TSC management.

Management of a Rare Disease Population: A Model for Identifying a Patient Population With Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting the brain and other vital organs with varying symptoms and severity among patients. This study developed and validated a risk model to identify patients with TSC using large databases of medical and pharmacy claims.

Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report.

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 bilateral cortical tubers and subependymal nodules on magnetic resonance imaging.

New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND).

Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the or 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, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures.

Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.

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.

Disparities in identification of comorbid diagnoses in children with ADHD.

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 study was a retrospective chart review of 5- to 10-year-old children with ADHD diagnosed at the initial evaluation. Data collected included demographics, rates of comorbid conditions, medication management, and educational interventions.

Potential for treatment of severe autism in tuberous sclerosis complex.

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 preclinical models, and potential barriers that may warrant strategic planning in the design phase of clinical trial development.

Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.

Background: Infants born with tuberous sclerosis complex, 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 outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes.

Everolimus and intensive behavioral therapy in an adolescent with tuberous sclerosis complex and severe behavior.

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 observations of self-injury and aggression in an individual with TSC has not been reported.

Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders.

Objective: 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 neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling.

Methods: Pubmed and Clinicaltrials.gov were searched using specific search strategies.