Treacher Collins Syndrome

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 .

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

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.

In conclusion, Treacher Collins Syndrome continues to be a very uncommon disorder but it does still occur in our society

abilities as well as feeling like a social outcast. A hearing impairment or speech impediment may

On March 7, 2016, I observed Makenzie Cockerill in room A117 from 10:00-10:45 am. The client was preschool-aged. The clinician informed me that the client had low intelligibility. The objectives of the day were to work on the /b/ sounds and beginning vowel sounds. The clinician also planned to do a mini screening of Child Apraxia of Speech. However, she informed me that she didn’t believe that this was the case in the child, but they wanted to rule it out. The client had multiple speech sounds in error, so the clinician implemented a cyclical strategy.

The Parry Romberg syndrome is unusual disorder that slowly deteriorates the skin and soften facial tissues around the frontal face; however, this usually occurs on the left side. Doctors are uncertain if it’s an autoimmune mechanism that initiates this unique disease. The Parry Romberg syndrome may be a variation of a skin disease called morphoea. The beginning stages of this facial deterioration usually encompass the tissues above the upper jaw or between the nose area and progresses to the direction of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. Parry Romberg syndrome is associated with neurological anomalies

TCS mainly affects the bones of the face, but it also affects how a person can breathe. That is why some people have holes in their throats with machines in them (tracheostomies); it is there to help them breathe. This disorder also may affect how a person swallows. If they cannot swallow food correctly then they will have a tube that goes into their stomach and food can be fed through there (gastrostomy).

DIAGNOSTIC CRITERIA: Prenatal onset of marked growth deficiency, microcephaly with secondary premature synostosis. Receding forehead, prominent nose micrognathia low set ears malformed ears with the lack of lobule down slanting palpebral fissures. Clinodactyly of fifth finger

(ghr.nlm.nih.gov). Tuberous Sclerosis develops at birth and arises upon the mutation of one or both of the TSC1 gene or TSC2 gene. The name of this disorder, Tuberous Sclerosis, comes from the combination of the Latin word tūber which means “bump” or “swelling” and the Greek word sklḗrōsis which means “hardening”. Hamartomas, generally referred to as tubers, are benign tumors that grow and calcify in the previously mentioned organs (massgeneral.org), but why is this important? Because of the critical points at which the tubers develop, the brain is the common place at which they grow. Since the brain is the center for all activity of the body, these cortical growths can affect the overall development of individuals with

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.

Clinical Implications: Minimal-contrast treatment is effective and efficient for treating children with phonological disability. Avoiding listener confusion is motivating for suppressing process use.

The interesting question is whether the social interaction is shaped in similar way across different children. Therefore, specific groups of children as normally developed, deprived of parental care, with Down syndrome, and Autistic are going to be considered to elaborate whether social interaction is a necessity for cognitive development and how social interaction influences the later stages of children’s life.

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.