Treatment for down Syndrome

According to the Centers for Disease Control and Prevention, approximately one in every 700 infants in the United States is born with Down Syndrome, making it the most prevalent chromosomal disorder. Annually, around 6,000 babies are born with this condition. Typically, Down Syndrome arises when an individual possesses a full or partial extra copy of chromosome 21. This condition can be identified shortly after birth based on distinct physical features, prompting immediate testing to confirm the diagnosis. In addition, Down Syndrome can be detected prenatally via sonograms, quadruple screenings, translucency screenings, and various blood tests.

The speech and language development of children with Down Syndrome often encounters delays. Young infants with Down Syndrome frequently face challenges with oral motor skills, leading to complications in feeding. Many infants benefit from assistance to develop a robust suck and swallow pattern. Expressive language typically develops at a slower pace, resulting in increasing challenges as the child grows older. Infants with Down Syndrome often resort to using gestures or sign language for communication instead of speech. Generally, children with the condition begin to develop their first words by the age of two. Following this, difficulties with comprehension and fluency become apparent.

With appropriate assessments and early intervention techniques from experts, children with Down Syndrome can enhance their speech and language skills. Communication is an ongoing process, and individuals with Down Syndrome may also benefit from speech therapy throughout their lives. Speech-language pathologists play a crucial role in aiding these individuals with conversation skills, pronunciation, comprehension, reading, and vocabulary retention.

Historical Context

The understanding and treatment of Down Syndrome have evolved significantly over the years. In 1866, Dr. John Langdon Down first described the disorder. However, recommendations for care were not always in the best interest of individuals with Down Syndrome. In 1946, pediatrician Benjamin Spock suggested that all babies born with Down Syndrome should be institutionalized to receive proper care. Fortunately, this perspective has shifted, and current approaches focus on personalized care and integration into society. The condition generally results from an error during the formation of sperm or eggs, leading to two copies of chromosome 21 failing to separate properly (Underwood 2014).

Language Challenges

Children and young adults with Down Syndrome typically exhibit significantly delayed language skills, characterized by a distinct profile of strengths and weaknesses (Bauer & Feeley 2013). Compromised hearing, phonological and articulation functions notably impact speech and language development (Faught 2016). Individuals with Down Syndrome often demonstrate better receptive language skills than expressive ones, and their vocabulary tends to surpass their syntax abilities. However, both receptive syntax and expressive vocabulary are generally quite limited. Compared to their non-verbal cognitive level, individuals with Down Syndrome are often significantly lower in expressive vocabulary, expressive syntax, and receptive syntax (Abbeduto 2013). In contrast, their receptive vocabulary is more aligned with their non-verbal cognitive level (Mengoni 2014). Despite relatively stronger receptive vocabulary, poor syntax skills compromise discourse comprehension, and weak expressive skills lead to language production consisting of brief, simple statements conveying only basic meaning.

Another common cognitive/linguistic impairment associated with Down Syndrome is short-term memory for speech sound information, often referred to as verbal or auditory short-term memory (Deckers & Zaalen 2016). Research has consistently shown that short-term memory is delayed in individuals with Down Syndrome beyond developmental level and intelligence expectations (Deckers 2013). Language learning necessitates processing sequences of speech sounds and internalizing structural aspects. Building a knowledge base of words and understanding how the order of morphemes and words affects meaning requires holding phonological information in memory.

Intervention Strategies

Numerous studies have demonstrated effective interventions to address various areas of communication in young children with Down Syndrome (Patterson 2013). Prominent strategies include prompting and reinforcement to teach verbal imitation to children with disabilities (Schott & Holfelder 2014). Using ten opportunities per session for simple word imitation, along with prompting, reinforcement, and error correction, has proven effective. Participants not only began to emit the sounds taught in the intervention but also started to spontaneously generalize to novel sounds not included in the initial intervention.

These findings suggest that teaching verbal imitation to children with Down Syndrome may have far-reaching positive outcomes. Once a child masters verbal imitation, this skill can be used as a foundation to address other communication impairments. Verbal imitation intervention can set the stage for teaching other verbal behaviors, such as longer utterances, manding or requesting, and even intraverbal behavior. Intraverbal behavior involves responding to questions and enhancing conversation skills. The ability to answer questions is a crucial intraverbal behavior for participation and interaction in various settings, including school, home, and the community. The effectiveness of behavior-analytic intervention, involving multiple opportunities with prompting, reinforcement, and error correction, has been well-established.

Promoting Participation

Encouraging children's participation in everyday life activities is a key goal for healthcare providers and policy makers (Korkow 2017). Professionals must understand a child's individual participation profile, along with the opportunities available, to tailor interventions effectively to meet specific needs (Lyons & Brennan 2015). Both impairment and social approaches to intervention may be necessary to enhance children's participation. The impairment approach involves speech and language therapists assessing clients to identify deficits in speech, language, and communication, which then become targets for intervention (Deckers 2016). Interventions may focus on enhancing speech and language skills, addressing participation barriers, facilitating opportunities, and countering negative attitudes.

Treatment and New Research

Can Down Syndrome be treated medically? While the condition itself cannot be "cured," there is ongoing research aimed at alleviating some cognitive impairments associated with Down Syndrome. Trials of several drugs are underway, targeting cognitive enhancement (Underwood 2014). For example, Brian Skotko, a medical geneticist and co-director of the Down Syndrome Program at Massachusetts General Hospital, is conducting trials on drugs that may alleviate intellectual impairments in individuals with Down Syndrome. One trial focuses on a chemical compound elevated in both Down Syndrome and Alzheimer's disease, while the other targets an inhibitory neurotransmitter system that may restrict brain activity in individuals with Down Syndrome.

Despite challenges such as recruiting participants and obtaining consent, if successful, these drugs could significantly enhance the quality of life and independence for individuals with Down Syndrome (Skotko 2014). However, the most dramatic changes in how people with Down Syndrome are treated have been social rather than medical. Skotko remains hopeful that these drugs will help clear some cognitive barriers faced by these individuals.

Treatment for Down Syndrome varies by individual, with early intervention being crucial. Research suggests that early intervention improves outcomes for children with Down Syndrome (Patterson & Rapsey 2013). Support can begin shortly after birth and usually continues until the child reaches the age of three. Beyond this age, most children have access to interventions and treatment through their local school district. Federal law ensures that the majority of children with Down Syndrome are eligible for free, appropriate public education (2004). A variety of therapists can be involved in early intervention programs and throughout an individual's life to promote maximum development, independence, and productivity.

Many children with Down Syndrome face health complications beyond typical childhood illnesses. Approximately 40% of children have congenital heart defects, making it essential for all newborns to undergo an echocardiogram. Some conditions require close monitoring, while others may necessitate surgery. Despite these challenges, appropriate medical care can lead to healthy lives.

Speech-language therapy is instrumental in helping children with Down Syndrome improve their communication skills and use language more effectively. Children with Down Syndrome typically learn to speak later than their peers, but speech pathologists can help them develop the early skills necessary for communication (Patterson 2013). Given that communication is an ongoing process, individuals with Down Syndrome can benefit from speech therapy throughout their lives, both in school and later on.

Future Directions

The Eunice Kennedy Shriver National Institute of Child Health and Human Development has been conducting and supporting Down Syndrome research since its inception. This includes developing animal models to study the syndrome and examining specific genes and gene groups that may play a role. In 2018, the National Institute of Health launched an initiative to understand the critical health and quality of life needs for individuals with Down Syndrome, with the goal of scientific discoveries to improve health and well-being.

In 2013, the Ds-Connect Down Syndrome Registry was launched to facilitate contact and information sharing among individuals with Down Syndrome, their family members, researchers, and parent support groups. The purpose of this registry is to identify various phenotypic manifestations of Down Syndrome and pinpoint individuals who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.

Research and clinical trials are ongoing processes. Every day brings new research and insights to better understand and treat Down Syndrome effectively. Whether or not we know someone with Down Syndrome, it is crucial for society to have the proper knowledge when interacting with individuals with the condition. This awareness can foster supportive environments that enable individuals with Down Syndrome to thrive and lead fulfilling lives.

Did you like this example?

784

41