Objective: It is difficult to find normative data on rare genetic disorders. The presented case study tracks longitudinal cognitive changes over a three year period for a patient diagnosed with Goledhar's Syndrome. Goldenhar's Syndrome normally manifests with ocular, auditory and vertebrate abnormalities (Pashayan, Pinsky, Fraser, 1970). The patient in this case study also was born with Cleft Pallet, Spinal Bifida, Left Conductive Hearing loss and Duane Syndrome. The patient was seen at initial referral in 2013 and again in 2015. Method: Data from the Wechsler Intelligence scales for Children-Fourth Edition, the California Verbal Learning Test- Child Version, Berry Visual Motor Integration Test and Grooved Pegboard were compared. Data was analyzed utilizing simple paired T-tests comparing initial assessment results with two year follow up results. Results: Results Indicated stable intellectual functioning without cognitive decline. There were noticeable deficits in working memory and processing speed. Results from verbal memory tasks indicate statistically significant declines in auditory memory at the near term and long term levels. Results also do not indicate statistically significant declines in visual motor integration or motor functioning. Conclusion: Longitudinal cognitive profile analysis demonstrates stable intellectual functioning, but continued decline in memory. Further study is needed to compare this case study with other cognitive profiles of children with Goldenhar's Syndrome. It is hoped that this case study will show the need for a centralized rare genetic disorder database to study cognitive profiles and further develop cognitive understanding and meaningful interventions.
Goldenhar Syndrome: A Longitudinal Case Study Analysis
Arch Clin Neuropsychol (2015) 30 (6): 548.
25 August 2015