Genotype–Phenotype of RPE65 Mutations: A Reference Guide for Gene Testing and Its Clinical Application

Author(s):  
Zhen Yi ◽  
Christina Zeitz ◽  
Takeshi Iwata ◽  
J. Fielding Hejtmancik ◽  
Qingjiong Zhang
JAMA ◽  
1966 ◽  
Vol 195 (3) ◽  
pp. 161-166 ◽  
Author(s):  
B. L. Segal

2012 ◽  
Vol 21 (2) ◽  
pp. 60-71 ◽  
Author(s):  
Ashley Alliano ◽  
Kimberly Herriger ◽  
Anthony D. Koutsoftas ◽  
Theresa E. Bartolotta

Abstract Using the iPad tablet for Augmentative and Alternative Communication (AAC) purposes can facilitate many communicative needs, is cost-effective, and is socially acceptable. Many individuals with communication difficulties can use iPad applications (apps) to augment communication, provide an alternative form of communication, or target receptive and expressive language goals. In this paper, we will review a collection of iPad apps that can be used to address a variety of receptive and expressive communication needs. Based on recommendations from Gosnell, Costello, and Shane (2011), we describe the features of 21 apps that can serve as a reference guide for speech-language pathologists. We systematically identified 21 apps that use symbols only, symbols and text-to-speech, and text-to-speech only. We provide descriptions of the purpose of each app, along with the following feature descriptions: speech settings, representation, display, feedback features, rate enhancement, access, motor competencies, and cost. In this review, we describe these apps and how individuals with complex communication needs can use them for a variety of communication purposes and to target a variety of treatment goals. We present information in a user-friendly table format that clinicians can use as a reference guide.


ASHA Leader ◽  
2006 ◽  
Vol 11 (7) ◽  
pp. 30-32 ◽  
Author(s):  
M. Nasser Kotby
Keyword(s):  

2007 ◽  
Vol 177 (4S) ◽  
pp. 590-590
Author(s):  
Thomas J. Polascik ◽  
Vladimir Mouraviev ◽  
Janice M. Mayes ◽  
Leon Sun ◽  
John Madden ◽  
...  

1950 ◽  
Vol 34 (6) ◽  
pp. 1839-1851 ◽  
Author(s):  
Laurence H. Kyle

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