Rett Syndrome: A Case Study

Diagnosis criteria for autism has changed frequently over the years as research provides better understanding. Dr. Adrienne Perry and Rosemary Condillac in their guide indicates it is important that the whole assessment process be tied to the most recent professional literature and the process be based on evidence-based evaluation of measures and procedures. Clinical practice should be consistent with relevant legislation, professional college regulations, standards, and ethics. In Ontario, RHPA requires that diagnosis may only be performed by registered professionals of the College of Psychologists or the Royal College of Physicians and Surgeons. (Perry & Condillac, 2003)

Every child in this study also experienced delusions, which were sometimes linked to their hallucinations. These were also somewhat simple in nature compared to the delusions adults experience, but not so simple as the hallucinations. One vivid example of a delusion experienced by a child was his belief that there was a baby in his throat that was telling him to kill himself, leading him to eventually reach down his throat to try to remove this baby. These delusions also seemed to last for a shorter span of time than the hallucinations.

Diagnosis. The earliest indicators of autism are impairments of verbal and nonverbal communication. A child with autism will have difficulties responding to their name, smiling and making eye contact, babbling or cooing by twelve months, and using single or two word phrases by twenty-four months (NIMH, n.d.). A proper diagnosis of autism spectrum disorder is a two part process. The child is first given a general screening to check for developmental issues. If the child is not making satisfactory developmental progress according to his or her age group, the child would be referred for additional screening. At this stage, the child will need to be screened to check for specific symptoms of autism. The screening can be based solely on the parent’s observation of the

When doing assessments of younger children, it is a good practice to allow flexibility. In doing so, I will be able to effectively communicate assessment results with parents. Developmental and behavioral tools often lack the sensitivity to screen specifically for autism spectrum disorder. Therefore, follow up screening tools are essential when a developmental screening raises concerns. To address ongoing assessment, I will use a checklist to assess how Zakai progresses with the three (3) objectives I have set for him. Additionally, I will I would observe Zakai and watch how he progresses in the classroom. By observing Zakai, I will also be able to create a portfolio for him that will allow his parents to see his progress as

With the prevalence of autism at an all-time high, there are many benefits to identifying a child as early as possible. Identification and intervention can dramatically improve outcomes for children with ASD. Children have increased neural plasticity at a very early age, making it easier for children to learn new skills such as communication, play, and overall skill development. Early intervention will improve children’s behaviors and remediate areas of weaknesses. Also, according to the New Jersey Early Intervention System program, early intervention makes the transition into preschool easier for children diagnosed with autism. In addition, parent-implemented intervention usually leads to better parent-child interaction, improved communication, behavior, and better maternal knowledge of autism.

However, with this screening tool, false positives may occur (Williams et al., 2015). Because of this, the M-CHAT-R tool was developed and it is more sensitive, and detects 67 per 10,000 cases of autism (Williams et al., 2015). If the risk is low; the child is reevaluated at the 24-month-old. If medium risk, then a follow-up questionnaire called M-CHAT-R/F is given. These screening tools are easy, efficient, and reliable to assess the risk of Autism spectrum disorders (ASDs) (Williams et al., 2015). Many nurses lack familiarity with these screening tools and also don’t have time to screen children for ASD. This article helps nurses to prevent barriers in screening children with early developmental

Sara is in need of residential treatment due to her history of self-injurious behaviors, and multiple attempts of suicidal gestures. Sara requires a higher level of care which outpatient care is currently failing to provide her at this time. Sara continues to have depressive symptoms and anxious feelings for the last few months. The patient has had two acute inpatient admissions within the last 3 months and requires long term stabilization. At this time Sara requires 24 hour supervision and ongoing intervention and treatment.

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

Based on the comprehensive review of the clinical findings provided in this member’s case, including the member’s health plan’s medical necessity criteria for the requested service of continued residential psychiatric inpatient care, it is the medically accepted standard of care to treat patients in the least restrictive environment necessary based on their presenting clinical symptomatology and follow accepted guidelines regarding appropriate level-of-care recommendations.

                 Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010). The onset of a period of regression is sometimes sudden.  Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze

In a study of 44 sets of twins, there was a high concordance rate of autism and other disorders on the ASD spectrum for monozygotic twins (92%)5. This suggests that the genetic similarity between MZ twins influences their risk of expressing Autism. Dizygotic twins however, had a much lower concordance5, supporting the hypothesis that there is a correlation between genetic similarity and Autism risk. According to the study, complications during pregnancy are not likely to be the cause of autism, but simply happen more often in twin pregnancies5. The association of severe brain damage in pregnancy and Autism has not been found in singletons5. In 29 cases of twins discordant for Autism, biological hazards associated with brain damage usually affected the autistic twin. This

Rett Syndrome is an extremely rare genetic disease that causes developmental and nervous system problems. Rett typically appears in girls. It is hardly inherited, and if it is it passed on by female carriers. Rett Syndrome unfortunately has no cure.

The journal articles main focus was to “discus the history, incidence, pathophysiology, diagnostic criteria, disease staging, clinical presentation and physical exam findings, and role of the primary care provider (PCP) as they pertain to care for a child with Rett syndrome (RS). (Briggs, A. 2014) The article begins with Briggs brief introduction to Dr. Andrea Rett, who “observed two females in the waiting room exhibiting similar types of behavior and researched whether or not this pathology has been described” (as cited in Rett,1986). Her discovery would later be named after her. Briggs states that RS is found in 1 of every 8,000-10,000 females and a very small percentage of males (as cited in Saunders, Mainassian, Chow, Zhao & Vincent, 2008).

Autism is on the rise. Many researchers feel the reasons isn’t because there are more kids being afflicted with it, but the increased public awareness has allowed this disorder to be more easily recognized and diagnosed at a earlier age.

Tens of millions of people have been diagnosed with Autism worldwide, effecting both genders, all races, ethnicities and people from all socioeconomic classes. In 2010 a Surveillance Summary was conducted in the United States, where it identified that one in 68 children are diagnosed with Autism (Centers for Disease Control and Prevention, 2014). It has been recognised