Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.

We present three children from two unrelated families with Angelman syndrome (AS) whose developmental skills are far more advanced than any other non-mosaic AS individual ever reported. All have normal gait and use syntactic language spontaneously to express their needs. All of them have a c.2T > C (p.Met1Thr) variant in UBE3A, which abrogates the start codon of isoform 1, but not of isoforms 2 and 3. This variant was maternally inherited in one set of siblings, but de novo in the other child from the unrelated family. This report underscores the importance of considering AS in the differential diagnosis even in the presence of syntactic speech.

Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome.

PURPOSE: This article describes and presents outcomes of a home-based, self-administered version of the Enhanced Natural Gestures (ENG) program for individuals with Angelman syndrome. METHOD: Parents of 18 individuals (11 boys and 7 girls) with Angelman syndrome, in consultation with their speech-language pathologists, participated in a quasi-experimental "B" design in which they self-administered an instructional program to teach their children to use enhanced natural gestures at home and/or in the community. Parents integrated 2 teaching methods, Mand-Model with time delay and Molding-Shaping, into their everyday interactions with their children. Parents reported outcomes of the program through goal attainment scaling and completion of the ENG Acceptability Rating Form. RESULTS: Children's overall achievements acquiring ENGs generally met or exceeded program (and parent) expectations. Most parents reported little difficulty self-administering the ENG program with their children and regarded the program positively across multiple dimensions. CONCLUSIONS: ENGs may, in conjunction with other forms of augmentative and alternative communication, represent a viable method of communication for many individuals with Angelman syndrome. Further research is warranted to explore the feasibility of ENGs with other populations of individuals with severe disabilities and complex communication challenges.

Overview of the enhanced natural gestures instructional approach and illustration of its use with three students with Angelman syndrome.

BACKGROUND: This investigation details procedures used to teach enhanced natural gestures (ENGs) and illustrates its use with three students with Angelman syndrome (AS). MATERIALS AND METHODS: Themes were extracted, using a process of content analysis, to organize individuals' feedback pertaining to previous versions of the instructional programme. A 'B' case study design was then employed to follow administration of the modified programme with three students in Madrid, Spain. Programme impact was examined relative to changes in each student's uses of ENGs spontaneously and in response to non-specific verbal prompts, along with team members' responses to a questionnaire designed to evaluate programme efficacy. RESULTS: Two of the three students demonstrated particularly rapid and spontaneous uses of their ENGs. Both quantitative and qualitative feedback from teams supported programme efficacy for all three students. CONCLUSIONS: The approach appears viable for individuals with AS and has implications for individuals presenting other diagnoses as well. Additional educational/clinical and research implications are discussed.

Parents' perceptions of communication patterns and effectiveness of use of augmentative and alternative communication systems by their children with Angelman syndrome.

PURPOSE: The author describes communication patterns and outcomes of augmentative and alternative communication (AAC) intervention for individuals with Angelman syndrome. METHOD: Parents self-administered a web-based survey using Qualtrics software. A series of rating scales and closed questions were used to gather information about individuals' current methods of communication, including AAC devices they were using. Individuals' uses of their single most advanced AAC devices were further explored in terms of associated importance, usefulness, success, acceptance, and functional outcomes. RESULTS: Nonsymbolic methods of communication proved to be very important to individuals, as did electronic AAC devices, although to a lesser extent. Individuals tended to have access to more than one electronic device concurrently. Although numerous devices were cited, mobile technologies, particularly iPads, were especially prevalent. This represented a significant change from a previous investigation. Overall, device use was perceived to be frequently important, accepted, successful, and useful in relation to 8 different factors, although ratings across a series of 19 functional outcomes varied. Differences were noted on several measures when individuals' ages and educational placements were considered. CONCLUSION: Results suggest a changing landscape in terms of types of devices used, particularly with respect to mobile technologies, and show clear evidence that device use is often, although not uniformly, associated with positive outcomes.

Use and acceptance of AAC systems by children with Angelman syndrome.

BACKGROUND: This investigation of children with Angelman syndrome (AS) examined reported uses of electronic augmentative and alternative communication (AAC) devices (i.e., VOCAs), including speech generating devices, in relation to other aided and unaided methods of communication. MATERIALS AND METHOD: A total of 122 parents of children with AS, mostly from the USA self-administered a survey over the Internet. Qualitative methods based primarily on thematic analysis were used to organize and examine data. RESULTS: Children relied heavily on unaided methods of communication such as natural gestures, regardless of their experiences with electronic communication devices. Parents cited various reasons for children's acceptance or rejection of their most advanced devices. DISCUSSION: Clinical implications are discussed in relation to children's needs for multimodal methods of communication, including accurately matching children's capabilities to AAC device characteristics. Practitioners are encouraged to consider reasons that parents cited for children's acceptance versus rejection of devices when implementing AAC programs.

Parents' reports of patterns of use and exposure to practices associated with AAC acceptance by individuals with Angelman syndrome.

Abstract The primary purpose of this investigation was to enhance our understanding of AAC use by individuals with Angelman syndrome (AS) in relation to two broad genotypes: Deletion Positive (DP) and Non Deletion (ND). Previous investigators have suggested individuals without deletions typically exhibit stronger cognitive and communicative abilities than their DP counterparts. This investigation focused on several aspects of AAC use: communication systems used; exposure to, success with, and acceptance of electronic AAC devices; and exposure to practices associated with AAC acceptance. Results indicated that both groups rely heavily on unaided, nonsymbolic methods of communication, with the ND group more likely to use conventional, symbolic systems. While the two groups were similar with respect to exposure to an array of electronic devices, the DP group appeared more likely to have gone no further than low-tech devices such as the BIGmack™. There was strong evidence of both groups' capabilities for success with high-tech devices and overall acceptance of devices in terms of duration of use. This proved especially noteworthy in light of both groups' limited exposure to practices associated with AAC acceptance. Clinical implications of these findings are discussed along with future avenues of research.

Parents' priorities for AAC and related instruction for their children with Angelman Syndrome.

This investigation examined the extent to which a set of 98 best practices in AAC, previously agreed upon by a panel of experts in AAC and inclusive education, reflected the actual preferences of 32 parents of children diagnosed with Angelman Syndrome. Parents' responses were examined in relation to whether their children were currently in mostly integrated (MI) settings with children without disabilities, or mostly segregated settings with other children with disabilities. With two exceptions, both groups, regardless of their children's current placements, viewed the practices favorably. When asked to prioritize the most important communication skills they wished their children to attain, all of the most frequently cited priorities were reflected in items contained in the questionnaire, supporting the social validity of the questionnaire as truly reflecting parents' priorities for AAC instruction. Implications of this investigation are discussed, along with next steps.

Validation of an inventory of best practices in the provision of augmentative and alternative communication services to students with severe disabilities in general education classrooms.

PURPOSE: To compile and then validate a set of evidence-based best practices related to augmentative and alternative communication (AAC) and its role in fostering the inclusion of students with severe disabilities in general education classrooms and other inclusive settings. METHOD: A comprehensive review of the literature pertaining to AAC and inclusive education for students with severe disabilities in inclusive classrooms resulted in an inventory of possible best practices. Reliability testing was conducted to verify levels of evidence assigned to each source and corresponding practice. Practices were reviewed and validated by a panel of 8 experts. Statistical analysis revealed a high level of internal consistency across items composing the inventory. RESULTS: An inventory of 91 practices, each assigned to 1 of 8 predetermined categories, was uncovered. Themes arising in experts' comments related to items in the inventory are discussed. CONCLUSIONS: Possible uses of the inventory are discussed along with suggestions for future research.

A Framework for Managing Controversial Practices.

Every day, speech-language pathologists working in schools make difficult, life-impacting decisions regarding which assessment and intervention approaches to use with their clients. These decisions can become even more difficult when the approaches being considered for use are controversial. The risks involved in making choices about controversial practices are likely to have increased significance simply because the approach being considered is not widely accepted. The increased professional risk may cause decisions to be made based on risk avoidance rather than on a careful consideration of the pros and cons of the approach itself. This article offers a clinical practice framework for gathering information about controversial approaches and for implementing and monitoring their use. The framework will be illustrated using facilitated communication as an example of a controversial practice.

Look Who's Pointing Now: Cautions Related to the Clinical Use of Facilitated Communication.

This article focuses on three factors related to the use of facilitated communication (FC), all of which constitute possible reasons for caution by speech-language pathologists who are considering this technique for individuals with severe communication impairments. First, problems with the theoretical bases of FC are discussed, especially those attributing the success of this method to its ability to target individuals' underlying difficulties with apraxia, word finding, and social-emotional challenges. A case is made that there is insufficient evidence to support claims that FC overrides such problems. The notion of the method unlocking communication and related skills from otherwise competent individuals is also questioned. Next, the subject of candidacy is discussed. Special attention is called to the absence of criteria for initiating, maintaining, modifying, and terminating this approach. Finally, outcomes of the method are summarized. Discrepancies between qualitative and experimental investigations are summarized, along with some possible explanations for these differences. Suggested parameters for evaluating individuals' uses of FC are discussed, along with the continuing need for speech-language pathologists to make informed decisions concerning the role FC will play in their interventions with individuals who exhibit severe communication impairments.