The Human Genome

Genome is an organism’s complete set of DNA, including all its genes (National Institution of Health, 2019). Genomics is the study of a person’s genes. The genetic disease that interest me is autism. Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviors or severely limited activities and interests (National Institutions of Health, 2019). Anyone can be affected by autism, the incidence of autism is the same all around the world (NIH, 2019). It is more common in boys than in girls (NIH, 2019). Autism usually develops before 3 years of age and affects each individual differently and to varying degrees (NIH, 2019). It ranges in severity from relatively mild social and communicative impairments to a severe disability requiring lifelong parental, school and societal support (NIH, 2019).

There are many signs and symptoms of autism. The hallmark symptom of autism is impaired social interaction (NIH, 2019). Children with autism may fail to respond to their name and often avoid eye contact with other people (NIH, 2019). They have difficulty interpreting what others are thinking or feeling because they don’t understand social cues provided by tone of voice or facial expressions (NIH, 2019). Many children with autism engage in repetitive movements such as rocking, spinning, twirling or jumping, or in self-abusive behavior such as hand biting or head-banging (NIH, 2019).

How is autism diagnosed? Diagnosis of autism is based on standardized testing plus a clinical evaluation by an autism specialist (NIH, 2019). Of children being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities defined by nonverbal IQ testing (NIH, 2019). The diagnosis of autism is made when there are a specific number of symptoms as defined by the Diagnostic and Standard Manual of Mental Disorders (DSM-5, published in 2013). Some commonly used diagnostic tests are the CARS (Childhood Autism Rating Scale), the ABC (Autism Behavior Checklist) and the GARS (Gilliam Autism Rating Scale) (NIH, 2019). When physical features, small head size or brain malformations are present or there is a family history of relatives with autism, genetic testing such as chromosome analysis and single-gene testing is done (NIH, 2019).

There is currently no cure for autism. Autism can be managed and shaped at a young age, even as early as pre-school (NIH, 2019). Treatment of autism involves medical and behavioral therapies to help children with conversational language and social interactions (NIH, 2019). Treatment involves helping children decrease their repetitive, self-stimulatory behaviors, tantrums and self-injurious behavior (NIH, 2019). Medications can help treat specific symptoms such as aggressive or self-injurious behavior, inattention, poor sleep and repetitive behaviors (NIH, 2019). There are no medications that are autism specific and medications should be used in conjunction with a family-centered, behavioral and educational program (NIH, 2019).

The causes of autism may be divided into ‘idiopathic’, (of unknown cause) which is most cases, and ‘secondary,’ in which a chromosome abnormality, single-gene disorder or environmental agent can be identified (NIH, 2019). Approximately 15 percent of individuals with autism can be diagnosed with secondary autism; the remaining 85 percent have idiopathic autism (NIH, 2019). Currently, no treatment has been shown to cure ASD, but several interventions have been developed and studied for use with young children (Centers for Disease Control and Prevention, 2019). Not much is known about the best interventions for older children and adults with ASD (CDC, 2019).

Treatments provided today is behavior, communication, dietary, medication, complementary and alternate approaches (CDC, 2019).  Assistive technology such as an iPad is used to communicate with others (CDC, 2019). Social skills training teaches them how to interact with others (CDC, 2019). I have a cousin that develop autism young, he was non-verbal. After a while, he became verbal, but you could not interpret what he was saying. His father decided to get him help using the behavior and communication approaches. Slowly progressing, he began to talk properly and behave in a more respectable manner. He can’t speak as fluently as others, but he can hold a full conversation as any other young adult can, he is now 19 years old.

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Reference

Centers for Disease Control and Prevention. (2019). Treatment and intervention services for Autism Spectrum. Retrieved from https://www.cdc.gov/ncbddd/autism/treatment.html.

National Institutions of Health. (2019). About Autism. Retrieved from https://www.genome.gov/Genetic-Disorders/Autism.

National Institution of Health. (2019). What is a genome? Retrieved from https://ghr.nlm.nih.gov/primer/hgp/genome.