Down Syndrome – Symptoms and Causes

Genetics

Genes play an important role in life reproduction. The inheritance of specific chromosomes can increase the likelihood for many problems or diseases. Health care has conducted enough research to estimate the probability of genetic mutations that can cause developmental disabilities. Genes serve as blueprints to influence body structure and composition (McCance & Huether, 2014). Any error in genetic imprinting can lead to a recognizable genetic disease (McCance & Huether, 2014). Gene make up has two perspectives such as phenotype is the outward appearance and genotype the genetic sequencing (McCance & Huether, 2014). There are many genetic illnesses that have been identified and categorized. Pediatric patients with genetic diseases compromise one-third of the total population (McCance & Huether, 2014). Down syndrome Discovering diseases related to genetics has become a priority for early treatment and reduced long-term risks. Genetic screening tests are now available to identify specific gene mutation diseases (McCance & Huether, 2014). Trisomy disorders can occur at any chromosome at time of conception (McCance & Huether, 2014).

The most common type of trisomy is of the twenty-first chromosome being the main cause for Down Syndrome (DS). Normal fetus development contains 46 chromosomes. Down Syndrome is defined by an extra pair of chromosome 21 (Centers for Disease Control and Prevention, 2018). The extra copy causes an altered mutation on the brain and physical development that can lead to life challenges. Prevalence of the disease is seen in 1 of 800 births (McCance & Huether, 2014). The disease affects Intelligence Quotient (IQ) to lower scores between 25 and 70 (McCance & Huether, 2014). Physical appearance can be affected by causing altered nose bridge and low flat ears. There is a slower response due to muscle tone irregularities. Patients born with DS have a large risk of also having congenital heart defects; causing an increased risk for respiratory infections (McCance & Huether, 2014). Prevalence of Down Syndrome increases with the older age of the pregnant mother (McCance & Huether, 2014). Older pregnant mothers run a higher risk due to the age of maternal cells that were created at birth and waiting to be used for years Symptoms at an older than age 40 resemble patients with Alzheimer's Disease as it affects chromosome 21 (McCance & Huether, 2014). Spontaneous miscarriages and stillbirths are directly associated with genetic diseases such as DS (McCance & Huether, 2014). Infants that are born with DS have a 20% chance of death during the first 10 years of life; long-term life expectancy is age 60 (McCance & Huether, 2014).

Screening tests have been developed to detect the possibility of genetic mutations during pregnancy. An amniocentesis draws a small amount of amniotic fluid usually at 16 weeks when there is a high risk of chromosome abnormalities suspected (McCance & Huether, 2014). The test is recommended for women at an advanced maternal age or couples who have a previous risk for genetic disease. Routine prenatal screening blood tests help determine if there is a risk & ultrasound helps determine if there is extra fluid accumulation around the neck. There is a possibility for tests to be negative and still have a chance of DS ().

Communication Difficulties

Children born with DS can develop problems swallowing and communicating effectively (Meyer, Theodoros, & Hickson, 2017). Speech Language Pathology (SLP) specializes in disorders that affect the ability of patients to develop speech (Meyer, Theodoros, & Hickson, 2017). Due to the incidence of DS there is great need to increase SLP services to help with developmental disabilities children born with DS encounter. Communication ability of DS depends on the development stage of the patient. Other pathological conditions can greatly affect communication such as impaired hearing. There is also a possibility that children can develop an early onset of dementia. In the study Down Syndrome children were provided speech therapy during a course of a year to improve communication outcomes. The study found that most children diagnosed with DS greatly benefit from family involvement with speech therapy and should be a service immediately provided to assess the needs of the patient (Meyer, Theodoros, & Hickson, 2017).

Improving Physical and Function Mobility

Muscle development is greatly affected in patients with DS. Reduced physical fitness capacity, muscle strength and abnormal body composition decreases mobility function of children born with DS (Silva et al., 2017). The goal of the study was to improve physical functioning to reduce long term limitations associated with poor muscle coordination in patients who had been diagnosed with DS (Silva et al., 2017). A total of 27 adult patients diagnosed with DS were included in the study to participate in a Wii based exercise program to improve motor function during a 2-month course (Silva et al., 2017). Patients were conducted an assessment to evaluate physical functioning and develop a plan to improve coordination. After the 2-month evaluation participants greatly improved coordination levels with low impact exercises provided by coordinating technology with physical movement that also incorporates positive reinforcement (Silva et al., 2017). Visual interactive technology reduces the risk of harm from traditional exercise equipment and allows brain functioning to coordinate with patient physical movements (Silva et al., 2017).

Breathing and Cognitive Function

Sleep cycles affect children's cognitive development. Patients with DS are at risk for sleep disruption patterns that affect breathing (Joyce & Dimitriou, 2017). Sleep is vital for children brain development and cognitive functioning (Joyce & Dimitriou, 2017). An estimated 20-30% of children diagnosed with DS experience sleep disturbance (Joyce & Dimitriou). The study evaluates children who have sleep disorders related to DS. Sleep Disordered Breathing (SDB) includes a range of symptoms such as snoring, sleep apnea; fragmented sleep patterns with obstructed airways cause a decreased amount of oxygen available for circulation to tissues (Joyce & Dimitriou, 2017). Children who are born with abnormalities in airway have an increased risk for Upper Respiratory Infections (URI) (Joyce & Dimitriou, 2017). The study measured 22 preschoolers diagnosed with DS who were concurrently exhibiting sleep disturbance patterns. Cognitive function greatly declined during school hours for children with limited sleep. Children diagnosed with DS having sleep patterns greatly benefit from therapy to help improve and rule out pathology associated with lack of sleep (Joyce & Dimitriou, 2017). Sleep studies help providers create a treatment plan for possible sleep apnea to improve functioning. Down Syndrome can be a life-altering diagnosis for a newborn. Prenatal testing can estimate the probability of a child born with the genetic disease. Parents of children from families that carry a higher incidence are recommended to do additional screening. Children born with DS can function as adults and many treatment options are available to improve the quality of life. Many adults with DS can carry an independent lifestyle. Genetic science has opened many windows to identify specific gene mutations and diagnosed with developmental disabilities. Parents of children born with DS have a long journey ahead with learning to live with a child who requires additional health services and different learning capabilities.

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