Autistic Traits and Empathy in Children With Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder and Co-occurring Attention Deficit Hyperactivity Disorder/Autism Spectrum Disorder.

Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD) are two of the most represented neurodevelopmental conditions in childhood. The diagnostic shift introduced by the DSM-5, allowing a combined diagnosis of ADHD and ASD, poses different clinical challenges related to diagnostic overshadowing, accuracy of clinical judgment and potential delay in an ASD diagnosis in children presenting with ADHD. Here we tried to disentangle the clinical phenotype and specificity of the two co-occurring conditions in relation to autism traits and empathy, by comparing children with ASD with and without comorbid ADHD with children presenting ADHD only and children with typical development. The child versions of the Autism Quotient (C-AQ) and Empathy Quotient (C-EQ) were administered to a total sample of 198 male children between 6 and 14 years old with age appropriate language skills and normal intelligence. Univariate analysis demonstrated no significant differences in the C-AQ total and subscale scores as well as the C-EQ between children with ASD and children with ASD + ADHD, while children with ADHD alone presented an intermediate phenotype between ASD and TD. Furthermore, a receiver operating characteristic (ROC) analysis was applied to discriminate among the different phenotypes. We found that the C-AQ and C-EQ were accurate at distinguishing with satisfactory reliability between: (a) ASD vs. non- ASD (N-ASD) groups comprising both ADHD and TD children (Area Under the Curve AUC 88% for C-AQ and 81% for C-EQ); (b) ASD and TD (AUC 92% for C-AQ and 95% for C-EQ); (c) ASD and ADHD (AUC 80% for C-AQ and 68% for C-EQ). Our data confirm the reliability of the C-AQ and C-EQ as behavioral markers to differentiate ASD (regardless of comorbid ADHD) from an ADHD condition and TD. Interestingly, in our sample an ADHD condition does not increase the severity of the clinical phenotype in terms of autism traits distribution and empathy, suggesting that the psychological measures detected by the two quantitative instruments are independent of ADHD traits. This evidence will contribute to the translational efforts in developing better tailored treatments and preventive strategies.

Pediatric Acute-Onset Neuropsychiatric Syndrome: A Data Mining Approach to a Very Specific Constellation of Clinical Variables.

Objectives: Pediatric acute onset neuropsychiatric syndrome (PANS) is a clinically heterogeneous disorder presenting with: unusually abrupt onset of obsessive compulsive disorder (OCD) or severe eating restrictions, with at least two concomitant cognitive, behavioral, or affective symptoms such as anxiety, obsessive-compulsive behavior, and irritability/depression. This study describes the clinical and laboratory variables of 39 children (13 female and 26 male) with a mean age at recruitment of 8.6 years (standard deviation 3.1). Methods: Using a mathematical approach based on Artificial Neural Networks, the putative associations between PANS working criteria, as defined at the NIH in July 2010 (Swedo et al. 2012), were explored by the Auto Contractive Map (Auto-CM) system, a mapping method able to compute the multidimensional association of strength of each variable with all other variables in predefined dataset. Results: The PANS symptoms were strictly linked to one another on the semantic connectivity map, shaping a central "diamond" encompassing anxiety, irritability/oppositional defiant disorder symptoms, obsessive-compulsive symptoms, behavioral regression, sensory motor abnormalities, school performance deterioration, sleep disturbances, and emotional lability/depression. The semantic connectivity map also showed the aggregation between PANS symptoms and laboratory and clinical variables. In particular, the emotional lability/depression resulted as a highly connected hub linked to autoimmune disease in pregnancy, allergic and atopic disorders, and low Natural Killer percentage. Also anxiety symptoms were shown to be strongly related with recurrent infectious disease remarking the possible role of infections as a risk factor for PANS. Conclusion: Our data mining approach shows a very specific constellation of symptoms having strong links to laboratory and clinical variables consistent with PANS feature.

8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report.

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.