Literature Review This literature review is focused on the characteristics, prevention, assessment, and intervention of TCS. An assortment of different sources were utilized in the collection of information regarding these areas, including journal articles, texts, and websites. Though, texts and web information were both used in a limited capacity. The literature review specifically focuses on the effect the syndrome has on the speech and language of affected individuals. I. Characteristics Treacher Collins syndrome is also known as Franceschetti-Klein syndrome and mandibulofacial dysostosis. It was originally written about by George Andreas Berry in 1889 and next by Dr. Edward Treacher Collins in a 1990 case report. In each circumstance, …show more content…
Social competency can be defined as skills related to interaction with others (peers, family, authority figures, nonfamiliar speakers, etc.) both verbally and nonverbally. This may be due in part to the affect on facial expressions (Geirdal, Overland, Heimdal, Storhaug, Asten & Akre, 2013, p. 2880). This may also be due to the significant amount of time that children with TCS (individuals whose phenotypic symptoms are severe enough to be noticed as neonates, infants, and young children) spend in hospitals/away from peers in natural contexts. This lack of experience affects language, and language is associated with both theory of mind and social competency, as they are both in-turn also associated with language. Each entity is interconnected with one another. Language age is associated with social competency and children with hearing loss often have language delays. Furthermore, social competency is likely affected by the inability to maintain peer relationships due to ostracization from peers, ostracization that may be due to either hearing loss and/or physical differences. Not to mention, the speech-hearing and physical disabilities are likely to affect self-esteem, which will negatively influence participation and …show more content…
The cleft needs to be repaired (through surgical interventions like palatoplasty) because it’s extremely important for feeding and swallowing, as well as speech. Similar to sleep, without sufficient nutrition, an individual will not be able to fully develop. A lack of sufficient nutrition will affect an individual’s cognitive ability, as well as their physical health. This is why surgical intervention is such a critical component of the process and one of the steps that is completed earlier on in the process. In addition to cleft palates, velopharyngeal insufficiency is a common symptom for about forty percent of individuals with TCS, and is often related to a cleft palate. Velopharyngeal insufficiency can be related to issues with breathing and feeding. It is also related to articulation problems and hypernasality. The articulation issues are likely due to the lack of ability to build pressure and without pressure consonants are altered (Goorhuis-Brouwer & Priester, 2008,
Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large
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
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
Tay-Sachs disease (TSD) is a fatal genetic disorder resulting in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A
In conclusion, Treacher Collins Syndrome continues to be a very uncommon disorder but it does still occur in our society
Stevens-Johnson Syndrome, a form of Toxic Epidermal Necrolysis, is a rare life-threatening disorder of the skin and mucous membranes which arises from an intense autoimmune sensitivity to mild infections, cancers, and most commonly, medications.
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
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 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.
(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
abilities as well as feeling like a social outcast. A hearing impairment or speech impediment may
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.
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.