Diagnosis:
There are no medical tests to diagnose Autism making it more difficult to discover, but there are two steps practiced today. First, a Developmental Screen which is a short test to determine if the child is learning basic skills at the appropriate age. Second, a Comprehensive Diagnostic Evaluation that will look at the child’s behavior and development along with family interviews. This provides a holistic approach to determine if Autism is a possibility [4]. |
Autism Spectrum Disorder (ASD) is a neurological developmental disorder that is associated with a large range of characteristics. Due to the extremely wide range of symptom severity Autism is considered a spectrum. This occurs because of the vast number of genes that, when mutated, are involved with ASD. One of the most commonly mutated genes is SYNGAP1. When this gene is mutated in conjunction with others the result is ASD. Autism tends to run in families, but the inheritance pattern can be difficult to determine as it varies between each mutation in each gene [1,2].
Frequency: Autism affects more males than females, and the number of children diagnosed with autism is dramatically increasing each year. However, it’s difficult to decipher if this increased frequency is due to changes in diagnosis or disorder rates [1]. Symptoms: Particular characteristics are very common such as an impaired ability to interact with other people from an early age. As well as difficulty using nonverbal cues such as gestures, eye contact, body language or facial expressions. Repetitive behaviors are also common, like repeatedly expressing the same thought. Autistic individuals tend to be rigid about their schedule and strongly resist any changes. Some people have a form of intellectual disability, but others have above-average intelligence and excel in areas such as music, mathematics or memory. There is also a range of language ability; some don’t speak at all and others are fluent. A large proportion of Autistic individuals also suffer from seizures or epilepsy [1,2,3]. |
There are no designated treatments to help Autistic individuals, but there is behavior therapy and limited medications to help alleviate some characteristics. Certain medications can help with repetitive behaviors, anxiety, aggression, seizures and hyperactivity. Various therapies can help individuals learn life skills, reduce challenging behaviors and learn social, communication and language skills. Treatment is personalized for each individual and their specific symptoms [2].
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Encoded by the SYNGAP1 gene, the SYNGAP1 protein (Synaptic Ras-GTPase-activating protein) plays a role in monitoring synapse action of nerves primarily located within the dendritic spine. Phosphorylation of SYNGAP1 allows Ras and Rap activation causing a decrease of AMPA receptors deposited on the synapse membrane. This ultimately lowers the amount/rate of neuron signaling [5]. So, when SYNGAP1 is mutated or no longer functional a large amount of AMPA receptors are found on the synapse and neurons are easily pushed to an excitatory state [6]. This constant excitation leads to cognitive and memory deficits along with seizures and epilepsy which are all symptoms of Autism. Approximately one third of autistic individuals suffer from epilepsy [7]. Truncation of SYNGAP1 alone often produces Nonsyndromic Intellectual Disability or SYNGAP1-related Intellectual Disability. Autism is often a result of multiple mutations in SYNGAP1 and/or other genes.
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