Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests and activities. These symptoms appear from early childhood and limit or impair everyday functioning. ASD may be an isolated and idiopathic condition or associated to genetic diseases such as Rett syndrome, neurofibromatosis, tuberous sclerosis and fragile X syndrome, among others. This increases the heritability of ASD to more than 90%. Attention deficit hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders of childhood and adolescence, often persisting into adulthood. ADHD is characterized by symptoms of inattention, impulsiveness, restlessness, executive dysfunction and emotional dysregulation which lead to markedly decreased functioning. Often, ADHD shares comorbidity with other psychiatric conditions such as obsessive-compulsive disorder. ADHD is highly heritable and multifactorial; multiple genes and non-inherited factors contribute to the disorder. The risk of ADHD in parents and siblings of children with ADHD is increased 2-8 times with heritability of approximately 76%.
The Igenomix Autism and Attention Deficit Hyperactivity Disorder Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Autism and Attention Deficit Hyperactivity Disorder is indicated in patients with a clinical suspicion or diagnosis of with or without the following manifestations:
- Persistent deficits in social communication and social interaction in multiple settings
- Restricted, repetitive patterns of behavior, interests, or activities
- Impairment of function
- Symptoms not explained by intellectual disability
- Symptoms present in early developmental period
- Difficulty performing daily tasks, lack of concentration
- Hyperactivity and distractibility
- Language delays and deviation
- Forgetful in daily activities
- Excessive talking
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient. Improve diagnostic criteria, natural history studies and novel therapeutic options.
- Early initiation of treatment with a multidisciplinary team in the form of behavioral, educational and psychological therapies, which have proven to be the most effective for ASD.
- In the case of ADHD, environmental restructuring and behavioral therapy as well as developments in behavioral parent training (BPT) and behavioral classroom management (BCM). Medical care with stimulants is also considered as a first-line treatment.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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