Table 3 Autism-like cluster recommendations

AU1. Monitor all individuals with TSC for manifestations in the autism-like cluster. The rates of autism-like cluster manifestations are high in individuals with TSC across age, sex, and developmental level with rates ranging from 41 to 69%. For this reason, all individuals with TSC (children and adults) should be monitored for manifestations in the autism-like cluster, including social communication and language difficulties, and the presence of repetitive and restricted behaviors

AU2. Monitoring for autism-like manifestations should start in early infancy and continue through adulthood. In people with TSC, manifestations in the autism-like cluster may emerge very early in development, or manifest throughout the developmental period. These difficulties may continue into adulthood and may have a negative impact on other aspects of functioning. For this reason, developmental monitoring and surveillance for autism-like manifestations should begin very early in all children with TSC to ensure early detection and access to early intervention. Surveillance should continue into adult life to provide supports for these difficulties

AU3. All individuals with autism-like cluster manifestations should be referred for a diagnostic assessment for communication disorders and autism/autism spectrum disorder (ASD). The rates of formal clinical diagnoses of autism are approximately 40–50% in children and adolescents with TSC, which is substantially higher than in the general population (1–2%). For this reason, all individuals who present with some autism-like cluster manifestations should receive a comprehensive diagnostic work-up for communication disorders and autism, as well as for all co-occurring conditions often associated with autism

AU4. The literature and clinical guidelines developed for children and adults with autism in the general population may be relevant and applicable to those with autism in TSC. A small number of studies, mostly in children, suggest that autism in individuals with TSC looks very similar to autism in those without TSC (referred to as “idiopathic” or “non-syndromic” autism). For this reason, the clinical and interventional guidelines for autism may be relevant for the identification and intervention of autism in TSC

AU5. Interventions using Naturalistic Developmental Behavioral Interventions (NDBIs) may improve social communication and behavioral outcomes in young children with autism in TSC. There are numerous evidence-based interventions that target and improve the core features of autism in the non-TSC literature. NDBIs represent the group of non-pharmacological interventions that have the strongest evidence base to date. NDBIs can be delivered by clinicians or by caregivers in their natural environments. These may therefore be of clinical benefit also to children with autism in TSC and their caregivers

AU6. Adults with TSC and autism-like cluster manifestations may benefit from recognized autism interventions, particularly social skills interventions. There is some evidence of the effectiveness of interventions for adults with autism in the general population to improve spoken language and social skills. Even though there is no TSC-specific evidence to date, such interventions may be helpful to adults with TSC and autism-like cluster manifestations

AU7. All children and adults with TSC and autism-like cluster manifestations or autism diagnoses should be monitored for common co-occurring psychiatric, developmental, and physical health disorders and appropriate treatment should be provided. Many individuals with autism without TSC present with a range of co-occurring neurodevelopmental, mental health, and physical health disorders that may negatively impact their developmental progress and behavior. These co-occurring disorders are treatable yet frequently go undetected. The same principle applies to autism in TSC. For this reason, all children and adults with TSC and autism-like cluster manifestations should be monitored for these common co-occurring conditions. Identification should lead to prompt and evidence-based treatments

AU8. The autism-like cluster and autism in TSC is an important area for future research. Even though the autism-like cluster and autism in TSC have received more research relative to most other TAND clusters, the evidence base, particularly for interventions, remains very limited. There are almost no studies documenting the effectiveness of non-pharmacological or early behavioral interventions for young children with TSC showing autism-like cluster manifestations or with a diagnosis of autism. Given the high rate of autism in TSC, this is therefore an important area in need of future research. In the meantime, we recommend the evidence and consensus clinical guidelines for autism in the general population for guidance