According to the National Institutes of Health (NIH, 2013), Apert syndrome is a genetic disease that results in the premature fusion of the sutures between the bones of the skull (craniosynostosis), which causes an abnormally shaped head and face. Apert syndrome accounts for approximately 4.5% of all craniosynostosis syndromes, with an estimated birth prevalence of 1:64,500 (Giancotti et al., 2014, p. 1445). Because children with Apert syndrome exhibit a variety of craniofacial and central nervous system anomalies, many of them are likely to demonstrate severe speech and language difficulties. As a future speech-language pathologist, it is important to be aware of some of the major factors contributing to these children’s speech and language problems in order to better serve them and their families. Thus, in this paper, I will closely examine the causes, signs and symptoms, and possible treatment options for Apert syndrome, as well as explore some of the speech, language, hearing, and other related problems often associated with it.
Causes
Apert syndrome is caused by a genetic mutation that occurs early on in pregnancy. Recently, researchers at Oxford University identified the specific genetic change that results in the characteristic features of Apert syndrome. They report that slight, specific changes in the genetic makeup of chromosome number 10, known as “Fibroblast Growth Receptor Factor 2” (FGFR2), causes the rare syndrome. All children receive two
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.
Ava Bracciante, an eight year-one month old female, who has been attending Lehman College Speech and Hearing Clinic since spring 2014 due to parental concerns regarding her articulation. She is currently attending the clinic once a week for 50-minute sessions. Ava’s parents, Mr. and Mrs. Bracciante, provided the case history report and stated that Ava received a speech-language evaluation at the Ampark School in 2014. The evaluation revealed gliding of the lingua-palatal rhotic /r/ and vocalization of the rhotic diphthong /ɚ/; her intelligibility was not compromised; therefore, she did not qualify for services. Mrs. Bracciante reported that she has seen an improvement in Ava’s speech and is an active participant to her progress.
Neurological systems were also evaluated to identify any existing health or comorbidities promptly and to utilize interventions such as referral to neurologists, ophthalmologists, or speech pathologists if necessary. Developmental red flags, in this case, would include the inability to understand the use of action words and being unable to follow two-step direction (Bellman et al., 2013). This would be indicative of receptive language delay. Expressive language delays are characterized by a child’s inability to ask for things by name, use no less than 200 words, or repeat phrases in response to questions (Stevenson & Richman, 2016). However, none of these red flags was reported by the child’s
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.
There are many factors that can lead to particular speech disorders such as brain injuries, audio deficiencies, age, and many more. A common problem leading to speech disorders can be identified as Otitis Media with Effusion (OME). OME is an audio problem occurring in the middle ear of children ranging from ages six months to four years (Serpanos & Senzer, 2015). With proper screening starting at birth, Speech Language Pathologist are able to identify this medical condition early on.
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.
There are three distinctive characteristics that people with cri-du-chat syndrome exhibits. The first distinction is during birth; babies who are born with the syndrome have “a distinct high pitch monochromatic cry,” that resembled a crying cat. The cat-liked cries usually fade away within their second year of life. Additionally, they have low birth weight. The second is a clinical distinctions which varies from patients to patients, however, the physical appearance of the person may have a rounded face structure, eyes wide apart, malocclusion, and microcephaly (small head). Another example is the palm of their hands; the line on the palm goes straight across the entire palm. The third characteristic of the syndrome deals with intellectual disability and it ranges in degree (Pituch, 2010). According to Kristoffersen (a professor in Linguistics and Scandinavian studies) tested 26 children and their IQ test ranged from 40 to 57. Kristoffersen also reported children with cri-du-chat have behavior complications for instance, “hyperactivity, stereotyped aggressive and self injurious behaviors.” Speech and language development are also impaired with individual of cri-du-chat syndrome.
Any intervention plan needs to include three components to be successful. The first being clinical expertise of the professionals that the disorder pertains to. Therefore, with speech being the target, a speech language pathologist would use his/her clinical judgment. The next factor includes current research and studies that involve the disorder being targeted. The intervention plan needs to be based in science, and there needs to have been previous research done to prove its effectiveness. This assures both the clinician and the client that the treatment will yield results if preformed correctly. The most important aspect is the last component, involving the child and their caregivers. It is pertinent that the patient is the main focus of all decisions, and with young infants that includes the caregiver/s as well. In order to devise a proper intervention plan, the patient and the caregiver/s concerns and wants need to be met. If patient or caregiver would like to target a specific difficulty, it is the clinician’s responsibility to use their professional expertise and current research to compose a plan that best suits the client and his/her needs. (Ritzman,
The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.
In most cases, this condition is caused by a genetic abnormality that interferes with brain growth. The child's brain may not have
After my first year of college, I was preparing for a long awaited double jaw surgery for the underbite I had since I was 8 years old. One of the steps I had to follow prior to the surgery was visiting a speech language pathologist. During the session, the SLP took baseline data of my speech with an underbite since many jaw surgery patients must follow up with speech therapy after surgery due to their transformed jaw placement. From calculating my s/z ratio to observing my conversational speech, each exercise I did fascinated me. This day opened my eyes to speech pathology and the importance of effective communication.
Sample population: The diagnosis was that the children had to have CAS. The eligibility criteria were that they were between the ages of 5 years, 5 months to 11 years, 2 months. They also had to pass a pure tone audiometry test, have normal receptive vocabulary, and have a normal oral structure. They seemed to consent to the study, which appears to be a convenience sampling technique. Originally 11 children were selected, but six of them did not meet the criteria listed. Furthermore, one of the children used in this study did receive speech therapy during the posttreatment period.
There are many different language delays and disorders found in the pediatric population. Childhood apraxia of speech (CAS) is one of the most common of these disorders. Dr. Libby Kumin defines CAS as “a motor speech disorder where children have difficulty planning, coordinating, producing and sequencing speech sounds” (Kumin, n.d.). Apraxia does not occur because of weakness or paralysis of facial and oral muscles. It occurs when a child’s brain cannot properly plan the movement of body parts necessary for normal speech production (“Childhood Apraxia,” 2011). Though CAS is the most common name for this specific disorder, it is also referred to as a variety of other names. Some of these names include: dyspraxia, developmental
Usher syndrome (USH), an autosomal recessive disorder, is a major health concern in the developing countries and in the United States but no effective treatment of the disease has been reported yet. Of the three subtypes of usher syndrome, USH1 is the most severe form of the disease associated with pre-pubertal onset of retinitis pigmentosa (RP), vestibular dysfunction and congenital profound hearing loss1,4. USH2 is less severe than USH1 characterized with post-pubertal onset of RP, normal vestibular function and congenital moderate to severe deafness1,4. USH3 is the least severe form of the disease having later onset of RP, variable vestibular function and progressive hearing loss1,4. Among these three clinical subtypes, USH2 is the most
Brock’s language development has not developed as it should have for his age. At eighteen months, he was speaking over fifty words and was talking in two word sentences, which was average. At two years of age, Brock began speaking in two or three telegraphic sentences. He has also expressed a great desire to learn new words. During his two and a half year developmental tests, Brock scored average in comprehension and production. He is also beginning to show more consistent use in conversational speech. At age three, he relies on complete sentences and understands what is being said. During his kindergarten developmental test, he was still average in vocabulary and a year later he could hold his own conversation with adults. According to his