Angelman Syndrome : A Case Study

This Anaesthetic case study would describes and discussed the scenario of a patient through the anaesthetic role of their surgical procedure. It will include and discuss the anaesthetic safety procedures equipment and drug interventions used to ensure this particular patients maximum safety and comfort before and during the procedure. The case study will include pre and peri-operative assessment in order to describe the involvement contribution of various specialties in the holistic care of the critical care patient. This assignment will focus only on the anaesthetics side of the procedure but will also highlight the importance of the triad of anaesthesia and discuss the administration, maintenance and reversal of

Angelman syndrome is thought to be caused mainly by the deletion of the maternally inherited copy of UEB3A. A small number of cases are also caused by failures in imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound mental effects are caused by this gene due to the fact that, while UEB3A’s protein is active in various bodily tissues, only the mother’s copy of the gene is active in the brain.

Angelman Syndrome: Angelman system is caused by genetics inherited from the mother. A person’s body and appearance is all decided by a component within a person’s

According to the US National Library of Medicine (2017), Angelman Syndrome, also known as Happy Puppet Syndrome is a “complex genetic disorder that primarily affects the nervous system.” Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene (UBE3A) located on chromosome 15.

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

The morphine IV PCA and fentanyl ITS administer equally effective and equally safe medications that are used to treat acute postoperative pain (Lindley et al., 2009). These medications belong to the opioid agonist classification and provide relief from moderate to severe pain for clients hospitalized following surgical procedures. The patient can safely provide self-administration of a programmed dose to relieve pain by the push of a button (“IONSYS,” 2006; Lindley et al., 2009). Although highly effective at relieving pain, both medications must be monitored closely to safely prevent the common adverse

This is due to the fact that the muscles must be paralyzed so the patient does not move around during the procedure. Fentanyl, Diazepam, and Propofol were administered to put CB to sleep, paralyze her muscles, and provide relaxation and memory loss of the procedure (Deglin). Potential post-operative complications from this procedure include malignant hypertension, hypoventilation, and nausea.

It seems essential that pain management as well as treatment of nausea be improved.” (Rullander, 2013, p. 58) It is well stated that pain control and nausea/vomiting needs to be controlled. There was also reference to whether PCEA which gives the patient the feeling of control. It is also shown “that the most effective analgesic method is a double epidural catheter with continuous infusion of ropivacaine.” (Rullander, 2013, p. 51). It is also mentioned that we need to take a holistic approach to treating these patients.

Pre-operatively patients are administered 2-3mg of IV Midazolam and an infusion of 5ug/kg/hr of dexmedetomidine is started.

To acquire a baseline of the severity of the nausea, I asked her to quantify it using a verbal descriptor scale (0-10) to establish if it was mild, moderate or severe, which is a recommendation established by the American Society of PeriAnesthesiaNurses (ASPAN). This would allow me to evaluate my interventions to determine if they were effective. The patient stated that she was experiencing a nausea score of "7", which would be moderate to severe in ranking. I immediately assessed the patient, determining that vital signs were stable, no complaints of discomfort, hydration of Lactated Ringers 800 ml was administered, along with prophylactic anti-emetics, Dexamethasone 6mg and Zofran 4mg IVP during surgery. After reviewing the medications ordered for Phase 1 recovery, the only anti-emetic ordered by Anesthesia was a second dose of Zofran 4mg. Based on current literature, it has been determined that when prophylaxis with one has failed, a repeat dose of that drug should not be initiated as a rescue therapy; instead, a drug from a different class of anti-emetic drugs should be administered (SOGC clinical practice). The reason for not repeating the dose is

How did you learn that Kyle has a disability? (Who was present? When did this happen?) If you were giving advice to professionals who need to explain to a parent that his/her child has a special need, what would that advice be?

Harry Angelman, was a pediatrician working in Warrington, England, he first reported three children with this condition in 1965.

The positive impact of anesthesia advancements over the last 100 years have made the care that patient receives more effective and less life threatening. These innovations have brought about a transformation in the care of the patient. It has improved how the healthcare institutions operate and the patient has benefited from the advancements and so have the medical staff. The anesthesia used today, and the anesthesia used a century ago is similar because it was created for the welfare of the patient. It was produced to help numb or put the patient to sleep during a surgical procedure. However, the difference today is that research and advancements in the medical field have improved and designed more superior drugs over the years and made them

ADNP Syndrome (Helsmoortel-VanDerAa Syndrome) is a complex neurolodevelopmental disorder in which a defect can affects brain formation, development and function. Any disturbance will affect bran formation, neurodevelopment and will interrupt neuroprotective function and the patient will present with complex disorder that manifest with global developmental delay particularly in motor and speech skills, sleep and behavioural disorder, ASD, hypotonia, feeding difficulties and growth disturbance. Other organ system might be also affected like hearing, vision, immune system, endocrine and cardiovascular system. ADNP is thought to be prevalent among genetic autism cases as it found to be mutated in at least 0.17% of those cases (he…,2014).

The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will