Treatment for down Syndrome

Abstract

As stated by the Centers for Disease Control and Prevention, roughly one in every 700 infants in the United States are born with Down Syndrome. This condition continues to be the most common chromosomal disorder. Each year, about 6,000 babies are born with Down Syndrome. In most cases Down Syndrome occurs when an individual has a full or partial extra copy of chromosome 21. The condition can be diagnosed shortly after the baby is born, based of particular physical features that cause immediate measures such as testing to establish confirmation of the condition.

Additionally, Down Syndrome can be diagnosed by conducting prenatal exams such as sonogram, quadruple screening, translucency screening and other blood test.

The speech and language development of children with down syndrome is frequently found to be delayed. Due to oral moral skills, feeding is generally a notable complication for young infants with Down Syndrome. Typically, most babies can benefit from assistance when it comes to developing a strong suck and swallow pattern. Due to the fact that expressive language develops slowly, difficulty with this skill becomes more challenging with age. Infants with down syndrome find themselves using gestures of sign language to communicate instead of using speech. Children with the condition tend to start developing first words by the age of two. Once the children start using words, difficulty with comprehension and fluency is encountered.

Having the appropriate assessments and early innervations techniques from experts, children with down syndrome will be able to improve their speech and language skills. Learning how to communicate is an ongoing process, individuals with down syndrome might also benefit from speech therapy later on their life. Speech language Pathologists may help with conversation skills, pronunciation skills, understanding skills, understanding what is read as well learning and remembering words.

Keywords: Down Syndrome, Early interventions, Motor skill performance.

Background of Speech/ Language Disorder

In 1866 Doctor John Langdon Down first described Down syndrome as a disorder. It was not until 1946, that a pediatrician named Benjamin Spock announced that all babies born with Down Syndrome should be institutionalized so they can properly be taken care of. In most cases the condition occurs when two copies of chromosome 21, are unable to separate properly during the formation of sperm or eggs during the union (Underwood 2014). Children and young adults with Down Syndrome show significant delayed language skills, it is found that individuals with the condition tend to have a different profile of strengths and weakness (Bauer & Feeley 2013). Taking into consideration that there is compromised hearing, phonological and articulation function, this makes a great impact on speech and language development function (Faught 2016).

Different aspects of the Down Syndrome Language profile include better receptive language skills than expressive language skills and better vocabulary than syntax. However, receptive syntax and expressive vocabulary are usually very limited. Compared with 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, they are often similar in receptive vocabulary to their non-verbal cognitive level (Mengoni 2014). In spite of relatively stronger receptive vocabulary, poor syntax skills compromise discourse comprehension, and with so many weak expressive skills language production often consists of brief simple statements that convey only basic meaning.

In addition to language skills, another common cognitive/linguistic impairment associated with down syndrome is short term memory for speech sound information and it is also verbal or auditory short term memory. (Deckers & Zaalen 2016). In past research studies, it has most often been measured using digit or word span tasks in which participants listen to lists of digits or words and they have to repeat them back immediately in the same order. Research has established that short term memory is delayed in individuals with Down Syndrome beyond developmental level and intelligence expectations (Deckers 2013). Language learning requires processing sequences of speech sounds and internalizing structural aspects of the sounds. To build knowledge base words and to understand how the order of morphemes and words affects larger meaning requires one to hold phonological information and memory.

Assessment

There have been several studies that have begun to demonstrate interventions to address various areas of communication in young children with Down Syndrome. (Patterson 2013). A number of studies demonstrate effective procedures including prompting and reinforcement to teach verbal imitation to children with the disabilities (Schott & Holfelder 2014). Imitation of simple words, using ten opportunities per session, prompting, reinforcement and error correction procedures has shown to work. Participants not only began to emit the sounds taught in the intervention, but also began to impulsively generalize to other novel sounds that were not taught in the intervention.

These results demonstrate that it is possible to teach verbal imitation to children with Down Syndrome and suggest that doing so may have far reaching consequences. Once a child verbally imitates, the skill may be used as a prompt to address other areas of communication impairment. Verbal imitation intervention can serve as the foundation for intervention to tech other verbal behavior such as longer utterances, manding or requesting, and even intraverbal behavior. (Jones 2013) Intraverbal behavior involves responses to questions and conversation skills. The ability to answer the questions is a type of intraverbal behavior that is important for participation and interactions at school, at home, an in the community. The results of this study demonstrate the effectiveness of behavior analytic intervention involving multiple opportunities with prompting, reinforcement, and error correction procedures.

Promoting children’s participation in everyday life activities represents a key aim for healthcare service providers and policy makers. (Korkow 2017). Professionals needs to understand a children’s individual participation profiles, along with the opportunities provided for participation, so that the interventions can be planned effectively to meet children’s specific needs. (Lyons & Brennan 2015) Impairment and social approaches to intervention may be required to address children’s participation. Impairment approach is the one where the speech and language therapist assesses clients to determine whether the individual has deficits in speech, language, communication, which in turn become targets for intervention. (Deckers 2016) Intervention may require a focus on enhancing children’s speech and language skills as well as addressing barriers to participation, facilitating opportunities for participation, and addressing negative attitudes.

Treatment

Can down syndrome be treated? People with down syndrome have been found to be signing up for trials of several drugs aimed at helping their cognitive impairment. (Underwood 2014). Brian Skotko a medical geneticist who is now the co-director for the Down Syndrome Program at Massachusetts General Hospital in Boston developed an intellectual curiosity about the cause of his sister’s disorder, Down Syndrome. Skotto’s clinic and others around the world are running two major trials of drugs that may alleviate some of the intellectual impairments in people with Down Syndrome. One targets a chemical compound that is elevated in the blood in both Down Syndrome and Alzheimer’s disease. The other takes an aim at an inhibitory neurotransmitter system that may put a brake on brain activity in people with Down Syndrome.

Both of the trails may face some unusual challenges, including that recruiting enough people to do the trial is a major factor, as well as gaining their consent. But if the drugs work, they could possibly give this individual a better chance at independent life (Skotko 2014). The most dramatic changes in how people with Down Syndrome are treated have not been medical, but social. Skotko hopes that the drugs he is testing will indeed help clear some of the cognitive obstacles individual with Down Syndrome face.

Treatment for Down Syndrome varies by individual. These treatments are recommended to start early in the child’s life. Research suggests that early intervention improves outcomes for children with Down Syndrome (Patterson & Rapsey 2013). Appropriate assistance can begin shortly after birth and often continues until a child reaches the age of three. After that age, most children have access to interventions and treatment through their local school district. The majority of children with Down Syndrome are eligible for free, appropriate public education under federal law (2004). A variety of therapists can be used in early intervention programs and throughout a person’s life to promote greatest possible development, independence, and productivity.

Many children with Down Syndrome have health complications beyond the usual childhood illness. About 40% of the children have congenital heart defects. It is very important that an echocardiogram is performed on all children as soon as they are born. Some of the conditions only require close monitoring while others may require surgery. Despite all the complications and down falls a child with Down Syndrome may suffer, appropriate medical care can lead to healthy lives.

Speech language therapy can help children with Down Syndrome improve their communication skills and use their language more effectively. Children with Down Syndrome tend to learn to speak a littler later than their peers. A Speech Pathologists can help them develop the early skills necessary for communication. (Patterson 2013). Learning to communicate is an ongoing process, therefore, individuals with down syndrome can essentially benefit from speech therapy in school as well as later in life.

New Research/Trends

Eunice Kennedy Shriver National Institute of Child Health and Human Development has conducted and supported Down Syndrome Research since its founding. Additionally, the development of animal models to help study the syndrome, examination of specific genes and gene groups that may play a role in the syndrome. In 2018, the National Institute of Health initiative was launched. The project aims to understand critical health and quality of life needs for individuals with Down Syndrome, with the aim of scientific discoveries to improve health as well as well-being.

In 2013. Ds- Connect, Down Syndrome Registry launched. This facilitates contacts and information sharing among people with Down Syndrome and their family members, researchers, and parent support groups safely and conditionally. The purpose of this is to be able to identify various phenotypic manifestations of Down Syndrome and well as identifying individuals with the condition who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.

New research as well and clinical trials is an ongoing process. Everyday there is new research and information that is available to help us understand and treat the condition in efficient ways. Whether we know someone with Down Syndrome or not, it is important as a part of the community to have the proper knowledge when it comes interacting with someone who has the condition.

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