Autism Spectrum Disorder and Fragile X Syndrome

What is Autism spectrum disorder?

Autism spectrum disorder (ASD) is a life-long developmental disorder known to impair individual’s ability to identify social cues or behave in a socially-acceptable manner. Today, Autism spectrum disorder is often characterized by a broad spectrum of symptoms; chief among them being clear signs of repetitive behavior, nonverbal communications, and neurological problems. The Centers for Disease Prevention and Control (CDC) has long played a crucial role in increasing public awareness regarding the slow but steady rise of ASD, especially given that it affects 1 in every 44 children in the United States alone (Centers for Disease Control and Prevention, 2022). Yet, it remains crucial to gain a better understanding of ASD, the main sub-types, and major factors predisposing its manifestation.

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Fragile X Syndrome – A Comparison of the Full Mutation Version and the Pre-Mutation Version

Fragile X syndrome (FXS) is often considered as one of the most common genetic causes of ASD. The origins of Fragile X Syndrome as a genetic disorder are often traced to defects in the FX Messenger Ribonucleoprotein 1 (FMR1) resulting in its inability to make the fragile X mental retardation protein (FMRP) responsible for brain development and the regulation of mRNA metabolism (Neri, 2017). Although FXS affects both males and females, the symptoms are often milder in women compared to men.

 In full mutation, FXS is mainly characterized by the presence of more than 200 repeats which eventually cause intellectual disability. During this stage, individuals with FXS are unable to manufacture FMRP due to the defects present in the FMR1 gene. On the other hand, the pre-mutation version of FXS is characterized by initial changes and mutations in the FMR1 gene as it heads towards total inability to manufacture FMRP (Neri, 2017) . It is important to note that although the FMR1 gene is partially functional during the pre-mutation phase,they still do not suffer from the Fragile X Syndrome disorder.

Signs and Symptoms of Autism Spectrum Disorder

Autistic disorders are known to present with distinct signs and symptoms, especially during the first few years of life. The differences in the brain normally manifest in the form of clear problems with social communication, social cues , and interaction Ethell & Sidhu, 2017). For instance, children well within the spectrum may have a hard time interacting with their peers and intentionally avoid maintaining or keeping direct eye contact. They also show little to no facial expression to demonstrate emotions and may even fail to respond to their assigned name until 9-months of age.

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 Parents of children suffering from autistic disorders also report avoidance of interactive childhood games; with most not sharing any interest during the early stages of life. On the other hand, another major sign of autistic disorders are restrictive and repetitive behaviors during early childhood. This type of behavior is normally characterized by either repetitive or restricted behavioral mannerism and interests. The child in question may line up objects in a specific fashion and obsess over such patterns, develop obsessive interests, repeat specific phrases and constantly follow a specified ritual.

Health Concerns for Individuals with Fragile X Syndrome

Fragile X Syndrome is a life-long health condition with no known cure. Persons with the condition are often advised to seek medical attention from accredited health care providers to commence treatment with the ultimate aim of helping patients to manage the condition. However, Sherman & Hunter, (2017) insist that patient education remains crucial to patients and guardians considering the fact that persons diagnosed with FXS are likely to be plagued by a host of non-life threatening health concerns. For instance, female Fragile X Syndrome carriers frequently grapple with reproductive problems such as early menopause. Individuals with Fragile X Syndrome are also at risk of developing early dementia, hypothyroidism, chronic pain, high blood pressure, sleep apnea, and frequent migraines.

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