what genetic testing and autism spectrum disorders

Moreover, the sibling recurrence risk is lower (4%–6%) than in essential ASD, and family history is less frequent (9%) (Elsabbagh et al. In these individuals, autistic features co-occur with dysmorphic features or congenital anomalies. While, syndromic ASD occurs in approximately 25% of patients. The prevalence of this type of ASD is in approximately 35% of the siblings and about 20% of cases have positive family history for ASD. 2009).Įssential autism spectrum disorder is diagnosed in approximately 75% of the ASD patients. 2006 Richdale an Schreck 2009 White et al. Moreover, children with ASD often present other psychiatric and medical conditions including anxiety disorders, depression, attention deficit hyperactivity disorder (ADHD), sleep disorders, and gastrointestinal problems (Valicenti-Mcdermott et al. In addition, the epileptic EEG abnormalities can often be found in autistic children, even without the incidence of seizures (Yasuhara 2010). Furthermore, approximately 31% of patients with ASD also present intellectual disability (ID) (Baio et al. ASD is characterized by social interactions and communication deficits, repetitive and stereotyped behavior (Lai et al. In this article, we review the current state of knowledge about the genetic etiology of ASD and also propose a diagnostic algorithm for patients.Īutism spectrum disorders (ASD) is one of the most prevalent group of neurodevelopmental disorder that affects around 1–2% of the population with the average male to female ratio 4–5:1. The genetic etiology is recognized in ~ 25–35% of patients with ASD. Array comparative genomic hybridization and whole exome/genome sequencing studies identified common and rare copy number or single nucleotide variants in genes encoding proteins involved in brain development, which play an important role in neuron and synapse formation and function. Although the causes of ASD remain largely unknown, the studies have shown that both genetic and environmental factors play an important role in the etiology of these disorders. It is estimated that the prevalence of ASD is 1–2% in the general population with the average male to female ratio 4–5:1. Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders characterized by problems in social interaction and communication as well as the presence of repetitive and stereotyped behavior.

What genetic testing and autism spectrum disorders