KF Personal data History and backgroundKF is a tenth grade female student

KF- Personal data. History. and backgroundKF is a tenth grade female student in RC school district She lives at home with her mother. She is classified as a student with multiple disabilities and attends 6:1:2 special classes through Questar Ill Boces. She also receives counseling and occupational therapy once per week for 30 minutes individually. Physical therapy consultation is also provided six times per year for 30 minutes. KF shows interest in art, drawing, photography, and music. She was enrolled in a career development program. KF academic performance and behavior declines as the day progresses, which creates challenges for her to complete her work in classes.KF- DiagnosisKF has been diagnosed with Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a progressive neuromuscular disease. She is also diagnosed with Cognitive cerebellar affective syndrome (CCAS),Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay (ARSACS)Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited disease characterized by progressive muscle damage, speech and vision problems. It is caused by defects in sacsin, a protein that may be involved in organizing proteins within cells, especially those of the nervous system and muscles. ARSACS is also known as spastic ataxia of Charlevoix-Saguenay.Affected individuals appear normal at birth, and signs of ARSACS usually becomeapparent during the second year of life and become progressively worse. Symptoms of ARSACS may include: Difficulty and unsteadiness while walking, Spasticity (abnormally tight muscles) leading to ataxia (difficulty coordinating movements), Amyotrophy (muscle wasting), Nystagmus (involuntary side-to-side eye movements), Loss of sensation due to nerve damage, especially in the legs, Deformities of the fingers and feet, Dysarthria (problems with speech), and Yellow streaks in retina (the back of the eye).Mutations in the SACS gene cause ARSACS. The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, butthe specific function of the protein is unknown. Research suggests thatsacsin might play a role in folding newly produced proteins into the proper 3-dimensional shape because it shares similar regions with other proteins that perform this function.Mutations in the SACS gene cause the production of an unstable sacsin protein that does not function normally. It is unclear how the abnormal sacsin protein affects the brain and skeletal muscles and results in the signs and symptoms of ARSACS.Cognitive Cerebellar Affective Syndrome (CCAS)Cognitive cerebellar affective syndrome (CCAS) is characterized by deficits in executive function, linguistic processing, spatial cognition and affect regulation (Schmahmann and Sherman, 1998). It arises from damage to the cognitive cerebellum in the cerebellar posterior lobe (lobules VI, VII, possibly lobule IX), and is postulated to reflect dysmetria of thought analogous to the dysmetria of motor control from damage to the sensorimotor cerebellum in the anterior lobe (lobulesIII-V) and lobule VIII.Symptoms such as; problems with executive functions such as poor planning, deficient abstract reasoning, working memory problems, trouble with multitasking and set-shifting, decreased verbal fluency; (2) impaired visuospatial cognition including disorganization and poor visuospatial memory; (3) personality changes such as flattening or blunting of emotions, disinhibition or inappropriate behaviors;(4) language difficulties including troubles with prosody (appropriate variations in the melody, tone, quality and accents used in speaking), word-finding difficulty, and grammatical errors.OT/PT Evaluations & AssessmentsKF received an occupational therapy evaluation based on concerns raised during PT consultation with staff. Her fine motor and manipulative skills test 1-2 SD below the mean. She has visible weakness in her hands especially when performing writing and fine motor tasks. Her perceptual skills are in average range. She writes legibly for short assignments but is currently using classroom staff to complete much of her written work She is able to write 18 words a minute and types only 9 words per minute. She is currently not using keyboarding regularly as an alternative to writing. KF was not open to discussing her abilities and difficulties with this therapist during the evaluation. She does use some functional compensatory strategies, like carrying her books in a backpack and asking for assistance to move food and drink from one table to another in the classroom. It would help KF to learn and practice compensatory strategies that can help with access to the curriculum including more independence in “written”” work For tests the evaluating OTR used MVPT-4 and the BOT-2. She received a standard score of89 on the MVPT-4

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