The purpose of the case study is to formulate an effective comprehensive multidisciplinary way to treat the symptoms of the condition Rett Syndrome. Identify the current consumer data, disease symptoms and medical history, physical, and mental status of the patient. Once all the data and consumer information is compiled then a treatment plan is formulated using the nursing process. The treatment plan focuses on reducing the symptoms of Rett Syndrome, via the appropriate medication for pharmacotherapy, psychosocial therapy, physical and occupational therapy. The overall outcome of this case study is to enhance the quality of life for a patient with Rett syndrome.
RETT Syndrome:
Living with the Disorder and its Treatment. …show more content…
The regression characteristics presented can be rapid or slow onset. Typically the regression characteristics are loss of purposeful hand movements that resemble washing and wringing of their hands, clapping or tapping, repeated moving of the hands to their mouth, loss of the ability to speak, diminished eye contact, and lack of interest in play. According to The National Institute of neurological Disorders, 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 and speech (National Institute of Neurological Disorders, 2015). Rett syndrome presents with stages each having its own set of signs and symptoms that may vary from one child to another. According to a Medscape journal, RS progresses through 4 stages: stage 1 developmental arrest (6-18months), stage II rapid deterioration or regression (1-4 years), stage III pseudostationary (2-10 years), and stage IV late motor deterioration (>10 years) (Bernstein and Pataki, 2015). Rett syndrome moves through the series of stages, which explain in detail the signs and symptoms as the disorder progresses varying between mild to severe. According to the Medscape journal on the stages of Rett, the first stage presents with gross motor development delay, disinterest …show more content…
The long-term management and treatment will be for RS symptoms such as agitation and screaming, sleep disturbances, possible monitoring of a gastrostomy tube, Scoliosis monitoring & treatment, as well as possible surgery to corrective the curvature, dietary measures such as high calorie diet, vitamin D, calcium supplements, oral motor assessment and care, as well as physical therapy, and occupational therapy. According to a case study “Parental experiences of scoliosis management in Rett syndrome”, Scoliosis is the most common orthapaedic complication in RTT [3.4] with a median age onset of 9.8 years and about 75% of a population-based sample of girls with RTT affected by the age of 13 years (Ager, Downs, Fyfe, and Leonard, 2009). LS will very likely need monitoring and treatment for scoliosis. Next will be to assess LS’s sign and symptoms to determine what medications she may require to increase her quality of life. According to a Medscape article, no medications are available specifically for the treatment of RS. Agents that may be considered are Antiepileptic drugs for epilepsy (seizures), antireflux drugs for GER, and Sedative-hypnotic drugs (Bernstein and Pataki, 2015). Treatment for LS such as the physical therapy will help her to improve mobility; speech therapy may