Week # 4

This week in clinic I saw a 5-year-old male who was diagnosed with Angelman syndrome, which is a neurodevelopmental disorder. Angelman syndrome is a genetic disorder and although was probably present at birth, this client was just diagnosed at the age of 4. Some characteristics of Angelman syndrome are inappropriate laughter, communication deficits, and neurological disorders.

This client came to us for a hearing evaluation as part of an overal AAC evaluation. Speech Awareness Thresholds (SAT) in the soundfiled were found to be withing the normal limits. Noise makers ranging from a high pitched bell and squeeker toy to a low pitched drum were used and responses were found to be 5 dB. Otoscopy revealed clear canals and the tympaic membrane was visible and appeared to be intact bilaterally. Tympanograms revealed normal, Type A tympanograms bilaterally. Overall, ear specific information could not be obtained, but hearing appeared to be within the normal limits at least in the better ear.

This article assess the preferences of of individuals with Angelmans syndrome using a modified version of the Choice Assessment Scale. The scale was reported from 105 parents or caregivers of individials with Angelmans syndrome. The fvie categories in the modified version of the scale were Edibles, Tangibles, Activities, Sensory, and Escape/Avoidance. Twelve items related to water were added to the scale. Results were that Angleman syndrome was indeed characterized by a strong interest in water related items. Activity and sensory items were preferred over food, drinks, or tangibles. High mean scores were found for items including taking a bath, riding a bus, swimming, and interaction with staff and receiving praise.

Check it out :)
http://web.ebscohost.com/ehost/pdf?vid=10&hid=114&sid=d3e97f35-fad5-4673-b048-1923b39bb995%40sessionmgr102