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.

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' 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.

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.

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.

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.

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.

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.