Smith-Magenis Syndrome: A Case Study

Research is continually being conducted everyday with this common disorder. Many parents main concerns is the use of medication to treat their child. Many doctors nowadays show the parents the current research of studies being done and their effectiveness as well as providing papers for families for their willingness to participate in ongoing studies to better help understand their childs disorder and the best way to treat it ( Görtz-dorten, Breuer, Hautmann, Rothenberger, Döpfner, 2011).

This counselor was able to collect information from Jared's primary care doctor and therapist regarding his disabilities. The information collected from his treating team was used to assist with determining his eligibility for services.

Most people have never had the privilege to meet a child living with Smith-Lemli-Opitz Syndrome, SLOS for short. In fact, most people have never even heard of the disease. I have been able to spend time with a SLOS child and her wonderful family for the past 4 years. Audrey Bowers is a beautiful 5 year old girl who is severely impaired due to her genetic condition. SLOS is a rare metabolic disorder caused by a mutation in a gene found on chromosome 11. This specific gene corresponds to an enzyme that aids in the production of cholesterol within the body (Smith). Children with SLOS, like Audrey, are unable to produce enough cholesterol which leads to significant deficits in mental and physical development.

A recent publication in the Journal of Pediatrics (Sara L. Toomey, Alon Peltz, and colleagues,

Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be grown together, arms, and legs may not be fully developed. As of today, there is one known risk factor that has been found within the first year of the child’s

Met with Isaac Edward Smith on 03/13/2018 to conduct Diagnostic Interview. Intern Lopez-Ramirez from MRC program and Prince Smith, customer’s father, were in attendance. Isaac would like to be enrolled Project HIGHER because he will graduate from Hanks High School on June 12th and plans to enroll in the Graphics Design program. Isaac reported having Asperger syndrome. He was diagnosed when he was in the third grade and has been attending special education classes since elementary school. The main symptom customer reported was a short attention span. Isaac loses focus in his class after a while and will “drift off” to his own world. As a result, Isaac had been placed in special education classes for science, mathematics, and social studies.

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

I have a baby brother that have this syndrome. That’s the main reason of picking this syndrome. He didn’t start walking until he was around 4 years old. He’s not that good but he can get to where he need to go. He’s 11 but his brain function as an 3 year old. He can’t talk yet but he can yell. He goes to the hospital and stay overnight for 1 or 2 days for a sleep test every year or every other year. This syndrome affect the family because we still have to schedule and move things around because he need more attention and can’t really be left alone due to this syndrome he can have episodes (seizures). That is sudden episodes of uncontrolled electrical activity in the brain. I decided to use his syndrome

However, there are treatment options for symptoms of the disease that would be given to anyone in the general population. Starting with the heart, high blood pressure medicine may be given to the patient to help with the hypertension, surgery may be necessary to fix the heart valves, and a heart monitor may be suggested. Since persons with Noonan Syndrome usually have growth problems, hormones may be given to aid in the process. Mental Retardation and behavioral problems are a factor and stimulation programs or individualized teaching may be an option. Because blood disorders are common it is important to stay away from aspirin. This medicine prevents blood clots from forming and that is the opposite of what Noonan Syndrome persons need. In some cases, doctors may prescribe drugs that help the blood clot. Focusing more on the males, options for testicle problems are available. Surgery for undescended testicles can be performed but is encouraged to be done before the child enters school. Just like any other person living with testicles that don’t function properly, testosterone replacements are offered (MayoClinic,

Treatment of this disorder is truly dependent on symptoms being experienced and type of the syndrome present. Specific to hearing, however, cochlear implants are sometimes suggested depending on the case. Cochlear implants aid in the stimulation and transmission of nerve impulses to the brain from the inner ear. In conjunction with cochlear implants, treatment by a specialist, such as audiologist and speech language pathologist, is also usually recommended (“Waardenburg Syndrome - NORD”). Hearing screening early on in a child’s life is extremely crucial in making sure that all systems are functioning well so they are able to obtain language, especially considering this is an extremely malleable time in their development (Welling & Ukstins, 2017). Early intervention as soon as possible is one to the best ways a child can be set up for greater success later on, even if they do not choose to get or are not eligible for a cochlear implant (“Waardenburg Syndrome - NORD”). Aided with these treatments, people with Waardenburg syndrome who also experience hearing loss are given a better foundation to interact the world around

Smith- Magenis syndrome, or often referred to as SMS, is a developmental disorder that affects multiple organ systems within the body. SMS is a very rare disorder. “Although the exact incidence is not known, it is estimated that SMS occurs in between 1 out of every 15,000 and 25,000 births.” (Prisms) It is said to affect people of all ages. (SMS Research) This syndrome is shown through many abnormalities which are visible at birth. This includes cognitive, physical, and even behavioral differences. The history of SMS begins with Ann Smith, who was then a medical geneticist by then, was the first one who described the syndrome way back in the year 1892. While Ellen Magenis, who was a cytogeneticist, was the one who outlined the clinic spectrum

Jacobsen syndrome was discovered by Dr. Petra Jacobsen in 1973, as he describes a family with multiple members who had an unbalanced 11;21 chromosome, which had originated from a balanced translocation carrier parent. There are some patients with large deletions that can exhibit severe clinical manifestations and impairments, however, a few phenotypes reveal incomplete penetrance can differ greatly between several patients.

Going back to the child and the parent at the beginning of this paper, the child saw its pediatrician and turns out, they have a sprained wrist. The

The purpose of this study is to evaluate the clinical course and the long-term outcome of children with SK.