Autism Spectrum Disorders (ASD)

Autism spectrum disorders (ASDs) are neurodevelopmental disorders (NDDs) whose typical features include impaired communication and social interaction, as well as repetitive behaviors and restricted interests [3]. These symptoms are frequently comorbid with other neuropsychiatric symptoms, including intellectual disability, developmental delay, seizures, and attention-deficit disorder. Individuals also endure numerous medical conditions such as asthma, persistent viral infections, feeding disorders, sleeping disorders, and more. Diagnostic criteria for ASD is defined by the American Psychiatric Association’s Diagnostic and Statistical Manual, Fifth Edition (DSM5), and the prevalence of ASD is reported to be as high as 1 in 54 children in the US, with a male-to-female ratio of 4.3:1 [4].

Numerous studies support a strong genetic basis for ASD [5]. Based on clinical criteria, ASD can be broadly classified as syndromic or non-syndromic. Most individuals with an identifiable genetic cause can be stratified to a syndromic form of ASD, while the causes for most idiopathic, non-syndromic ASD patients are more difficult to elucidate [6]. For example, molecular testing can reveal a mutation in a single gene that manifests into a neurological syndrome.

Recent studies focused on non-syndromic ASD patients indicate an intricate relationship between the development of a child and their environment. The pathogenesis of non-syndromic ASD is now thought to originate from complex interactions between environmental factors, such as environmental toxin exposure, prenatal infections, autoimmune conditions, as well as gut microbiome abnormalities, and genetic predispositions [6-8].

The diverse symptoms of ASD can be mitigated or even overcome when personalized treatment begins early. Molecular diagnostic testing performed at Personalized Pediatrics Laboratories alerts healthcare providers of any genetic changes related to autism, which can steer parents to a path of early intervention and education for their child. Also, non-invasive sample collection is done with patient comfort in mind. Sample types collected for our assay include buccal swabs or saliva. Collection kits provided by a vendor use either 2mL of saliva deposited directly into the collection tube or a swab rubbed along the cheek and gums.

Once DNA is extracted, genetic testing at Personalized Pediatrics Laboratories is done to get an in depth look at a patient’s genetic makeup. The specific differences that may be found in a patient’s DNA is beneficial information that can indicate the type of autism and the underlying health conditions that are common with that diagnosis. Knowledge of a patient’s genetic makeup from our ASD assay greatly impacts their treatment in their health and social interactions, helping them develop their full potential in life. 

AFFILIATED PRACTICES

Personalized Pediatric Laboratories

1744 Berkeley St.
Santa Monica, CA 90404
(310) 761-8214