Treacher Collins Syndrome is an uncommon inhertance usually from mom or dad. My paper will go over the causes, symptons, treatment, and possible future Genetic Technology that can be done to prevent and cure this disorder. This is not so much a life-threatening syndrome, but it does cause symptoms showing dramatic facial differences and internal issues.
Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.
Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to
How would you like your life being in danger right after you’re born because you can’t breathe? Treacher Collins syndrome (TCS) causes underdevelopment of facial bones that could threaten an infant’s life by making it difficult to breathe. If the baby lives past this point they will have many facial deformities. Treacher Collins syndrome happens because of a mutation in TCOF1, POLR1C, or the POLR1D genes. TCS causes an underdeveloped facial bone, a small jaw and chin, an opening in the top of the mouth called cleft palate, eyes that slant downward, few eyelashes, a notch in the lower eyelid called a coloboma, eye abnormalities can cause vision loss, and unusually shaped ears lead to hear problems. All of these problems are linked with Treacher
The success of speech therapy intervention is dependent on successful surgical correction. The authors note that postsurgical complications may include stiffness due to scar tissue decreasing the flexibility of the velum, tethering of the velum, weakness of the velum, and shrinking of the velar tissues. The authors also note the risk of malocclusion as the child grows and the palate continues to grow and develop.
Imagine yourself as a person that everybody is afraid and doesn’t want to talk to because of your looks. Imagine that one person that wants to be your friend. The book “Wonder” by R.J. Palacio is about a 10-year old boy named August or Auggie is what people call him. Who goes through that also it’s about his experience at school with Treacher Collins Syndrome. Although it was hard for him at first, I believe he overcame what people think, and school became a positive experience for Auggie.
Socialization deficits are a major source of impairment regardless of cognitive or language ability for individuals with ASD. Furthermore, social skill deficits do not remit with development. Indeed, impairment and distress may increase as children approach adolescence because the social milieu becomes more complex and the child becomes more aware of their social disability” (White, 2006, p. 1858) As Dr. White mentioned social deficiency is not a situation that goes away with age and can have lifelong effects if not addressed by an intervention to help the child to learn acceptable and expected social behavior. These social impairments manifest themselves in many varying ways and degrees such as “speech, linguistic conventions and interpersonal interaction.” (White, 2006, p. 1858) Problematic areas include impairments in turn-taking in conversation and the ability to understand other’s perspective, proper use of pitch and inflection in their speech, obsessively dwelling on certain topics, difficulty in expressing and understanding emotions, and difficulty with nonliteral language uses such as metaphor and sarcasm. These impairments make communication with others difficult and uncomfortable for the ASD child and can cause a cascading effect, causing them to withdrawal from social situation out of frustration with their inability and embarrassment, or cause peers to distance themselves from the ASD child because of this seemingly awkward behavior and
Tay-Sachs disease is a rare inherited disorder that gradually destroys nerve cells in the brain and spinal cord.
But “if there is a difficulty understanding what people say, difficulty speaking or forming sounds or words and using language in appropriate social contexts then this can affect a child’s behaviour and emotional development”. (Speech, Language Communication Action Plan 2011)
August Pullman is a 5th grader that has Treacher Collins syndrome. It’s a disease that causes someone’s face to be deformed. This prevents Auggie from going to school. But his family wants him to try it out. He has some good times but most of the time, he doesn’t enjoy it. In this essay, i will be talking about the times that he wasn’t enjoying it. And for these reasons, that’s why i choose for him not to go to school .
This lack of social development is a big barrier to achieving all the PILES outcomes. Language is learned through conversing with others. Intellectual development is increased when learning together. Children learn a lot about the world through interacting with others and collaboration is a very important learning tool.
The sample was generated from participants who volunteered. The participants represented males and females ranging between the age of 8 and 13; 14 males and 10 females of each cleft type; and matched them according to sex, age, IQ, and levels of reading ability. In order to be a participant, the authors listed the following as criteria: the subject had to be reading at least one grade level behind on the Wide Range Achievement Test, Average Full Scale IQ on the WISC, be within the third to sixth grade in school, the evidence of cleft lip and palate or cleft palate only had to be present with no other genetic syndromes or neurological anomalies which might be related to intellectual or learning process, and no significant hearing loss at the time of testing.
These problems and limitations affect all aspects of daily life, including the social domain. Just like the way information is encoded and understood shapes social learning, social impairments also influence social development (Turkstra et al.). This means that in general, adolescents and young adults need to be able to perceive, understand the implied meaning, and respond in a way that relates to the context. TBI affects this ability and often results in unsuccessful social interactions that, ultimately, may contribute to an even more unsuccessful learning environment.
Social competencies opportunities need to be provided for group interaction, socialization with guest and friends so that the child learns to accept his strengths and weakness.
Non-academic skills are an asset for achieving success in all areas of life, and one of the most important skills to have is a well-rounded set of social skills. Social skills are often something we pick up on as we move through life. Consider what would happen if you had a learning disability that inhibited your ability to process your environment in the same manner as your peers. It would be a daunting task; your ability to see, think, and participate would be different from what is often considered to be the norm. Hayes (1994) mentions in her article “Social Skills: The Bottom Line for Adult LD Success” that many individuals with learning disabilities or companion diagnoses like AD/HD, have deficits in a number of social skills. These include verbal and motor impulsivity, poor interpretation of facial and body language cues, poor auditory perception of vocal cues, invasion of another’s personal space, inappropriate touching, and disorganization. These types of social deficits can often cause difficulties for persons with learning