Abstract Information

P-48

Case Study: A Patient with Intellectual Deficits due to Aarskog-Scott Syndrome demonstrates ability to make neurological and functional gains after suffering a traumatic Spinal Cord Injury

Rapalo R, Cantwell J
Mount Sinai Rehab, New York, NY, USA

Introduction
An individual who has profound intellectual disability due to Aarskog-Scott Syndrome suffered a spinal cord injury of unknown severity, exhibited recovery from a neural injury using properties of locomotor training, task-oriented approach, and constraint induced movement therapy(CIMT).

Case Presentation and Timeline
A 26 yo M with Aarskog-Scott Syndrome was pushed headfirst into a wall by an individual at his adult day care center. He fell to the ground unable to move his arms or legs. He was taken to a hospital where imaging showed severe C3-C5 congenital stenosis with cord compression and contusion. He underwent an emergent C3-C5 decompression and fusion. Three weeks later was admitted to an acute SCI rehabilitation.
At the time of evaluation, given the intellectual disability, a conventional International Standards for Neurological Classification of SCI (ISNCSCI) examination was unable to be reliably completed. At baseline, patient was ambulatory, required assistance for ADL's, non-verbal, and unable to consistently follow directions, therefore unable to complete standardized therapeutic assessment for neurological function and therapists used professional observation to assess the individual’s level of impairment. Physical and Occupational Therapists completed the Functional Independent Measure (FIM). At the time the individual was dependent with ADL's, feeding, transfers and ambulation. He did however demonstrate seemingly volitional movement without command in the left arm and leg.
This case was unique because of the underlying profound intellectual disability which makes learning new skills or following the therapist’s directions difficult. Yet this individual was able to participate in more than 3 hours of therapy daily and make progress both with neurological recovery and functional mobility through the use of adaptions to conventional locomotor training, repetitive task oriented practice and CIMT.

Therapeutic Focus and Assessment
The ability to accurately determine the injury severity and prognosis is important for proper planning of rehabilitation, the inability to do so in the case initially led therapists to focus therapeutic interventions on family training. As the individual began to exhibit spontaneous recovery over the first 3 days on the inpatient rehabilitation unit, the focus of intervention shifted to include the principles of locomotion training, task-oriented practice, and CIMT.
Outcome measures used to track progression were the FIM, 6 minutes walk test, timed up and go, 10 meter walk test, SCI FAI, and WISCI II.

Follow-up and Results
At 21 days in rehab improvements in all outcome measures were made. On the FIM, improvements occurred in ADLs mobility. Results demonstrate the ability for the individual to make neurological and functional gains despite difficulty with intellectual learning.

Discussion and Significance
This case study shows a patient with intellectual learning deficits regain the ability to walk and perform ADL's after suffering a spinal cord injury. In this case, a patient with Aarskog-Scott syndrome was able to make both neurological and functional gains after being admitted to inpatient SCI rehabilitation.


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