KF 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 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 become
apparent 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 (lobules
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.
KF 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, which put her in the 23r d percentile on this test. For the BOT-2, her score for both fine manual control was 1-2 SD below the mean. Her score for manual dexterity was more than 2 SD below the mean. Her score for upper limb coordination (ball skills) was average. She fatigued as the test continued.
After KF physical therapy evaluation she presents: decreased muscle tone, muscle strength, endurance, balance, and coordination affecting her mobility. Her functional mobility has decreased since her last evaluation in 2016 and she is currently functioning within her present educational setting with adult assistance and adaptations. A home exercise program was recommended with additional active recreational participation outside of school. KF fatigues as the day progresses and its is believed that physical activity, in addition to her PE classes, would increases her fatigue and negatively impact academics at this time. Direct PT services may be necessary in the future if a decrease in function is observed.
KF school program has made some functional modifications for KF. Notes are often scribed for her. She receives assistance with carrying cups or open food items from one location to another. She carries a backpack as holding items in her arms is often difficult. The school arranged for a rest period with the nurse as needed.
KF appears to have right hand dominance. When she reaches she appears to cross midline with no difficulty. KF uses an inconsistent grasp pencil grip. She can print
neatly and legibility at times and at others her writing is large and more difficult to read. Continuing to dictate classwork to someone will benefit her. KF can copy 18 words a minute accurately. She uses two hands to type and can complete 9 words per minute. Since her typing speed is slower than writing speed and slow enough to not be functional (12-15 words per minute is generally considered functional).
Therefore it is not a useful compensatory skill currently for her but can be with practice.
Strengths: KF currently using some strategies within the classroom environment Writing legible and able to be maintained for short periods of time. She has some basic typing skills. Her perceptual skills are functional.
Weaknesses: Typing is limited as an alternative to writing as it is currently much slower than her writing skills. KF is currently using staff to complete much of her written work She presents hand weakness and poor fine motor skills.
KF’s fine motor skills are not likely to improve and are likely to continue to slowly decrease. This could easily be a frustration and behavior trigger. KF can learn when and how to ask for assistance or use compensatory strategies, her deficits should not impact her ability to access curriculum. KF’s program will be using chrome books in the next year and many of the textbooks that can be access via chrome book involve typing answers directly into the computer. This may work well for KF but likely cause fatigue and slowness of typing would both become a factor.
Alternative positioning of keyboard, alternative keyboards, or even a text to type program might be beneficial. It would also be beneficial for KF to have a short exercise program to maintain hand strength.
KF recommendations are for direct OT services lx 30minute per week Individual services are needed for KF to learn and practice compensatory strategies and since the school environment is small opportunities to consult with staff or to try strategies in the classroom should be able to happen during the course of those sessions. She seems to show much interest in American Sign Language. She is beginning to learn simple sign language gestures, alphabet and numbers. This can be beneficial for Kendra due to her disabilities. Incorporating a couple hand strengthen exercises to her weekly routine can enhance her hand strengthen and maybe lessen her fatigue when completing classroom work
There is no cure for ARSACS. Treatment is supportive and may include muscle relaxants, leg supports, physical, and occupational and speech therapies.
Individuals with ARSACS will often require a wheelchair by the fifth decade of life and often do not survive past the sixth decade. Physical therapy may be recommended and oral medications such as baclofen to control spasticity in the early phase of the disease may prevent tendon shortening and joint contractures and, hence, may help to postpone major functional disabilities until severe muscle weakness or cerebellar ataxia occur. Urinary urgency and incontinence may be controlled with low doses of amitryptiline or oxybutynin; custom-made leg braces may improve control of spasticity; during school years, speech therapy, occupational therapy, and psychological support may help enhance academic performance.
Clinicians believe that muscle lengthening as performed in patients with cerebral palsy will gain popularity for the treatment of orthopedic problems in ARSACS. Experiments with botulism toxin to evaluate what is to be earned by surgical lengthening seem promising. This toxin is being used on a larger scale by neurologists. This treatment should help to decide for whom and when the lengthening procedure should be done. Future research will dictate the proper management of the uncommon problems encountered in this rare but severely debilitating disease.
Schmahmann, J. D. (2004). Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. Journal of Neuropsychiatry Clinical Neuroscience, 16(3), 367-378.
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ermeer S, van de Warrenburg BP, Kamsteeg EJ. ARSACS. 2003 Dec 9 [Updated 2012 Oct 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available
Bouchard, M., & Langlois, G. (1999). Orthopedic management in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Canadian journal of surgery. Journal canadien de chirurgie, 42(6), 440-444.
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