Introduction Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000–20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6–12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and growth failure. The course of the disease, in its classical form, is characterized by four stages. Three different atypical variants of the disease have been defined. Epilepsy has been reported in 60%–80% of patients with RTT; it differs among the various phenotypes and genotypes and its severity is an important contributor to the clinical severity of the disease. Methods In this manuscript we reviewed literature on RTT, focusing on the different genetic entities, the correlation genotype–phenotype, and the peculiar epileptic phenotype associated to each of them. Results Mutations in MECP2 gene, located on Xq28, account for 95% of typical RTT cases and 73.2% of atypical RTT. CDKL5 and FOXG1 are other genes identified as causative genes in atypical forms of RTT. In the last few years, a lot of new genes have been identified as causative genes for RTT phenotype. Conclusions Recognizing clinical and EEG patterns in different RTT variants may be useful in diagnosis and management of these patients.

Background: The aim of our study was to trace a specific neuropsychological profile, to investigate emotional-behavioral problems and parental stress in children with Autism Spectrum Disorder Level 1/High functioning (ASD-HF), Specific Learning Disorders (SLD) and Attention Deficit/Hyperactivity Disorder (ADHD) disorders and to highlight similarities and differences among the three groups. Methods: We retrospectively collected the data from a total of 62 subjects with ASD-HF (n = 19) ADHD (n = 21), SLD (n = 22) and 20 typical development. All the participants underwent neuropsychological standardized test for the evaluation of cognitive profile (Wechsler Intelligence Scale for Children Fourth Edition—WISC-IV), behavioral and emotional problems (Child Behavior CheckList CBCL), and parental stress (Parental Stress Index Short Form—PSI-SF). The scores of the ASD-HF, ADHD, and SLD groups were compared using non-parametric statistic methods (Kruskall–Wallis H test and U Mann–Whitney for post-hoc analysis). Results: The ASD-HF group were significantly higher in all areas of the WISC-IV than the other two clinical groups. The SLD group performed significantly lower than ASD-HF in Working Memory Index. The SLD group showed lower scores on the somatic problems subscale than the other two groups. In the Difficult Child subscale of the PSI-SF, parents of ADHD children scored lower than the mothers of SLD subjects and higher than the fathers of SLD subjects. In all three groups there are specific deficiencies compared to the control group in the cognitive profile, behavioral and emotional problems, and parental stress. Conclusions: Our comparative analysis highlighted similarities and differences in three groups of children with different neurodevelopmental disorders, helping to better define cognitive, behavioral, and emotional characteristics of these children and parental stress of their parents.

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