Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

Abstract

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.

Delusions, Hallucinations, and Cognitive Decline in Middle Age: A Case of Dementia, GIGYF2 Gene Mutation, and 22q11 Duplication

“…6 The relationship between duplication of the 22q11 region and psychosis or dementia is relatively ambiguous. Duplications are detected in 1 in 700 individuals with developmental disorders, often inherited in an autosomal dominant manner (OMIM:608363), with concomitant intellectual disability, facial dysmorphism, stunted growth, Attention deficit hyperactivity disorder, autism, 7,8 and severe psychoses. 9 There is no history of any developmental deficits or intellectual disability in this patient, and the physical examination had not revealed any dysmorphic features.…”

Treatment of Autism Spectrum Disorders by Mitochondrial-targeted Drug: Future of Neurological Diseases Therapeutics

“…Thus, researchers have postulated personalized medicine approaches for individuals with ASD owing to their specific and unique characteristics. Regardless of the various approaches utilized by different researchers, the majority of these studies have concluded that patients with ASD are unique in many ways, and hence, require a personalized approach for the amelioration of ASD symptoms [ 189 ]. In this section, we have attempted to describe the unique mitochondrial dysfunctions in ASD patients and hence their potential targeting using precision personalized mitochondrial medicine.…”

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

“…Previous studies on abnormal copy number variation (CNV) in patients with mental retardation and multiple malformations have shown that the symptoms of some patients may be related to 16p13.11 microdeletion/microduplication [6][7][8]. It was reported that in addition to microcephaly, developmental delay and a series of mental disorders, patients with 16p13.11 microdeletion also reported a series of epilepsy, while those with 16p13.11 microduplication showed mental retardation, autism, epilepsy and deformative features [9,10].…”