Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?

Autism Spectrum Disorders (ASDs) and Attention Deficit and Hyperactivity Disorder (ADHD) are the most common comorbid conditions associated with childhood epilepsy. The co-occurrence of an epilepsy/autism phenotype or an epilepsy/ADHD phenotype has a complex and heterogeneous pathogenesis, resulting from several altered neurobiological mechanisms involved in early brain development, and influencing synaptic plasticity, neurotransmission and functional connectivity. Rare clinically relevant chromosomal aberrations, in addition to environmental factors, may confer an increased risk for ASDs/ADHD comorbid with epilepsy. The majority of the candidate genes are involved in synaptic formation/remodeling/maintenance (NRX1, CNTN4, DCLK2, CNTNAP2, TRIM32, ASTN2, CTNTN5, SYN1), neurotransmission (SYNGAP1, GABRG1, CHRNA7), or DNA methylation/chromatin remodeling (MBD5). Two genetic disorders, such as Tuberous sclerosis and Fragile X syndrome may serve as models for understanding the common pathogenic pathways leading to ASDs and ADHD comorbidities in children with epilepsy, offering the potential for new biologically focused treatment options.     

Alopecia areata. How not to miss Satoyoshi syndrome?

Satoyoshi syndrome is a multisystem disorder of suspected autoimmune etiology, characterized predominantly by alopecia, muscle spasms and diarrhea. Antinuclear antibodies are present in 60% of patients. The syndrome primarily affects girls and young women. Trichoscopy shows regularly distributed yellow dots, indistinguishable from typical alopecia areata. The condition may be easily misdiagnosed and treated as alopecia areata. On the basis of an in‐depth analysis of all published cases we developed diagnostic criteria for Satoyoshi syndrome. We also suggest that two subtypes of the disorder should be distinguished, the ANA‐positive Satoyoshi syndrome with generally good response to systemic glucocorticosteroid therapy and the ANA‐negative Satoyoshi with less favorable prognosis. In our opinion all patients will alopecia areata (in particular alopecia totalis) should be inquired about muscle spasms and diarrhea and tested for antinuclear antibodies to decrease the risk of missing Satoyoshi syndrome.