Genetic Screening

Children with autism spectrum disorder have a significantly higher likelihood of underlying genetic conditions—up to 20–30% may have an identifiable genetic variant compared to 1–2% in the general population. At RiseNow, we integrate genetic screening considerations into every evaluation because early identification of these conditions can dramatically alter medical management, prognosis, and family planning.

During our comprehensive assessment, we systematically screen for clinical features associated with genetic syndromes commonly seen in autism: unusual facial features, growth abnormalities, congenital anomalies, developmental regression, seizures, or specific behavioral phenotypes. Conditions such as Fragile X syndrome, tuberous sclerosis, 22q11.2 deletion syndrome, and hundreds of rare genetic disorders can present with autism as a primary feature.

When red flags are identified, we provide appropriate testing referrals for laboratory tests or coordinate with pediatric genetics specialists for further evaluation. We guide families through the process, explaining the potential benefits and limitations of testing while respecting their decisions.

The benefits of genetic diagnosis extend far beyond labeling. Many identified conditions have specific medical surveillance guidelines—cardiac screening for 22q11.2, renal ultrasounds for tuberous sclerosis, or endocrine monitoring for certain metabolic disorders. Some have targeted treatments or clinical trials available. For families planning future children, genetic counseling provides critical recurrence risk information.

Perhaps most importantly, a genetic diagnosis can bring clarity and closure to parents who have wondered “why” this happened. It often shifts the narrative from “something we did wrong” to “a medical condition we can now understand and manage.” We ensure every family receives compassionate, thorough counseling about results, connecting them with condition-specific support organizations when appropriate.

Genetic screening is never mandatory, but when clinically indicated, it represents a powerful opportunity to optimize your child’s health trajectory and provide answers that traditional autism evaluations cannot.