Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16p13.2 16p11.2, 15q11.2, and 22q11.21 regions). An exploratory genotype/phenotype analysis revealed that the f-ASD with causative CNVs had statistically significantly lower restrictive and repetitive behaviors than those without CNVs or with non-causative CNVs. Future work should focus on further understanding of f-ASD genetic underpinnings, taking advantage of next-generation sequencing technologies, with the ultimate goal of contributing to precision medicine in ASD.

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD.

Background: Co-occurring conditions and psychiatric comorbidities are more frequently observed in autistic individuals than in typically developing populations. Objective: The present study aimed to investigate the agreement of parent- and self-reported psychopathological assessment using the Child Behavior Checklist (CBCL/6-18) and the Youth Self Report (YSR/11-18), respectively, in autistic adolescents without intellectual impairment. Methods: 54 autistic adolescents without intellectual impairment (11–18 years; M = 14.73; SD = 2.28) were assessed with a psychiatric and psychological evaluation conducted by expert clinicians also using self- and parent-reported scales and semi-structured interviews (K-SADS PL, CDI, MASC) including CBCL/6-18 and YSR/11-18. Results: According to clinical judgment, over 90% of participants had at least a comorbidity: anxiety (68.5%) and mood disorder (57.4%) were the most frequent. The results indicate significant discrepancies between parent- and self-reports across the three summary scales, which assess emotional and behavioral problems, as well as their combined presentation, often observed in youth with ASD. Specifically, differences were found in Internalizing (p < 0.001), Externalizing (p = 0.013), and Total Problems (p < 0.001) scales. Conclusions: The findings show the lack of agreement in parent- and self-reported scales in our sample. These results suggest the need for a cross- and multi-informant approach to support clinical judgment and understand psychopathological comorbidities of autistic adolescents without intellectual impairment.