Communication
All children with AS communicate, some more effectively than others. [1, 2] Communicative attempts occur frequently in conjunction with individuals’ overall desires to socially interact with others, an area of relative strength. When they are unable to communicate effectively, children may resort to problem behaviors such as pulling hair, pushing, hitting and biting to express their wants, needs, and feelings. It is important to recognize the vast majority of these behaviors are communicative attempts that occur when individuals lack access to other more conventional and socially appropriate methods of expressing themselves. [3] We can expect to see these behaviors fade once individuals learn alternative means of conveying the same intents, such as gestures and other forms of Augmentative and Alternative Communication (AAC). Children have no further need to scream if activating a message on a communication device results in the same desired outcome (e.g. gaining a teacher’s attention) more efficiently and with less effort. Behavior problems more often reflect others’ inabilities to provide children with effective and appropriate methods of communication than intrinsic limitations of the children.
Still all individuals with AS demonstrate communication difficulties to some extent. Problems in this area have implications for most aspects of education and daily living and should thus be a focal point in all instructional programs. Communication skills are critical in order for children to access the general education and special education curriculums and participate actively throughout the day. Whether we are referring to physical education, reading, writing (e.g. with line drawings), art, music, lunch, or science, all of these events have corresponding communication demands that must be met for students to be full participants. It is thus essential that speech-language pathologists (SLPs) are available to other educators to problem solve communication strategies needed for children to be included throughout the day.
Communication challenges are especially evident in individuals with large deletions of the 15th chromosome. Those whose problems are linked to other genetic mechanisms, such as uniparental disomy and imprinting defects, typically exhibit stronger communication skills, both expressively and receptively, and more favorable prognoses for communication and language development. [4] Irrespective of the underlying genetic mechanism, children with Angelman Syndrome are often unable to acquire and use speech as a primary method of communication. However, interventions including efforts to improve speech may be appropriate in some cases, particularly for individuals exhibiting genetic mechanisms other than large deletions, as some of these children may acquire a modest inventory of words and even phrases. [3, 4] Oral motor programs with other populations have yielded marginal results in terms of generalization to improvements in speech. There are no current studies documenting the efficacy of oral motor training for children with AS.
Given their poor prognoses for speech, individuals with AS need other means of expressing themselves. AAC systems may include unaided (e.g. gestures and signs) and aided (e.g. communication boards and various speech generating devices [SGDs]) methods that together constitute a multimodal system of communication. No one AAC system is appropriate for all individuals with AS and systems that are ideal for one individual may be of limited use to others.
Children with Angelman Syndrome usually self-select gestures as their preferred method of communication. [1] Most of these behaviors, particularly early in their development, consist of ‘contact gestures’ which are dependent on physical contact with people and objects in order to be conveyed. Examples include pulling a parent by the hand toward a desired item that is out of reach or pushing away a non-preferred object offered to them. Distal gestures appear later and represent more abstract means of communication. These include extending their hands and arms to indicate a desire to be picked up and pointing toward a desired object that is out of reach. The vast majority of individuals with AS have an inventory of natural gestures they are able to use functionally, especially when interacting with familiar people. These natural gestures can be modified to express a greater range of meanings more clearly and effectively using a system of Enhanced Natural Gestures, or, ENGs. [2]
In light of their natural propensity to use gestures, communication interventions often rely on teaching individuals to use sign language. While they may indeed acquire anywhere from a few to more than a hundred signs, based heavily on the underlying genetic mechanism, individuals’ motor problems often cause them to modify and distort targeted signs. This poses difficulty for others, particularly unfamiliar listeners, to understand. Listeners who are knowledgeable about sign language but not the versions of signs produced by some individuals may also encounter difficulty when interacting with these individuals. For this reason enhanced natural gestures (ENGs), which are by definition understandable to familiar as well as unfamiliar listeners, are often a preferred method of communication. [2]
Most individuals with AS supplement their gestures/signs with one or more types of aided communication. [1] They may use systems of tremendously varying complexity, ranging from touching a preferred object to make a request, selecting one of eight photographs to request a corresponding activity, or using a rather sophisticated electronic communication display with 50 or more pictures, photographs, line drawings, words and/ or other symbols to meet many of their daily communication demands. There are dozens of communication devices available; the identification of the ‘right’ system for a particular individual requires a comprehensive AAC evaluation by trained professionals. It is essential to match each individual’s skills, capabilities, and immediate as well as long range needs to what is available and what is necessary to implement them effectively, using a process referred to as feature matching.
As indicated earlier, most children with AS, particularly those with deletions, do not acquire functional speech. Many parents report their child used words such as “mama” and “more” early on but these words later dropped out. Individuals’ difficulties acquiring speech result from a combination of factors that include motor problems, such as low tone in the oral area, structural anomalies such as a protruding tongue; intellectual disabilities, and possible apraxia. Efforts to teach speech to children with deletions have in most cases yielded marginal gains. Those presenting different genetic mechanisms offer better but still guarded prognoses. While no such investigations have been conducted on individuals with AS, those involving other populations have consistently found AAC does not hinder the development of speech. To the contrary, speech is generally fostered following introduction of AAC. It is extremely important to introduce AAC instruction as early as possible in conjunction with other early intervention services.
There have been several reports of individuals with AS demonstrating stronger abilities comprehending language than producing it. [1, 5] For example, many individuals have been reported able to understand simple commands and sentences even though they are unable to express such content. However variations appear in the literature, with some investigators failing to note consistent differences in individuals’ production vs. comprehension of language. [6] Analyses of expressive language have demonstrated individuals with AS most often use language to mand (i.e. request desired objects and activities and/or reject undesired ones). Instances of tacting (e.g. labeling and describing) and echoing (i.e. imitation) are rare. [7] The difficulty with imitation suggests a need to proceed cautiously when relying on this method to teach communication and related skills.
While all individuals with AS experience difficulties with communication, the severity of these problems vary greatly among individuals with the same or different underlying genetic mechanisms. It is thus essential to maintain high expectations and give all individuals every opportunity to communicate. Communication skills can be maximized by early and ongoing interventions, including those carried out by experts in AAC. Interventions should target enabling individuals to communicate more effectively with a broad range of partners in various natural settings. A child’s ability to communicate with his speech-language pathologist in a therapy room has little significance compared to the child’s ability to demonstrate this same skill with teachers and peers in classrooms, playgrounds and other settings.
Communication services are best implemented through a combination of direct therapy and consultation. Direct therapy should always be accompanied by systematic probes designed to verify skills observed in therapy are generalizing to other settings as well. For example, an SLP may want to work on turn taking. In addition to direct time spent with the child, the SLP might ask the student’s Aide to monitor and collect data on the child’s application of this skill (i.e. turn taking) when she has opportunities and reasons to use it in real-life situations. For example, does the student wait her turn in going up to the blackboard? Does she wait her turn as objects are passed from one child to the next during circle time? Does she wait her turn as she stands in line and passes through the food line in the school cafeteria? Similarly, the SLP might teach the student to reject unwanted objects by gently pushing them away. The SLP would collaborate with the Aide and others to identify reasons and opportunities for the student to use this skill naturally and monitor whether or not the student is indeed doing so. For example, during art class the student might reach for and look at one of several crayons out of her reach. A peer might be asked to purposely offer her a differently colored crayon, setting up an opportunity for the student to push it away and repeat her initial request. (Please refer to the ‘Education’ section of this document for additional examples, and references, of how communication and other related skills can be integrated across the curriculum and throughout the school day).
In summary, it is essential that speech-language pathologists, parents, teachers, peers, employers and others collaborate to maximize individuals’ abilities to communicate functionally and thus participate actively in their communities. Children need multiple means of communication and knowledge of when to use one method vs. another depending on particular situations. Educators must understand that communication instruction must not be reserved for therapy rooms but should instead be targeted throughout the day. Themes such as membership, participation, and inclusion should be pervasive in all attempts to foster communication skills. It is through communication that children will establish and maintain friendships and networks of support that will be available throughout their lives.
1. Alvares R and Downing S. A survey of expressive communication skills in children with Angelman syndrome. Am J Speech Lang Path, 1998. 7: p. 14-24.
2. Calculator S. Use of enhanced natural gestures to foster interactions between children with Angelman syndrome. Am J Speech Lang Path, 2002. 11: p. 340-355.
3. Wilkerson R, Northington D and Fisher W. Angelman syndome: an underdiagnosed disorder. Am J Nurse Pract. 9: p. 55-62.
4. Jolleff N, Emmerson F, Ryan M, et al. Communication skills in Angelman syndrome: Matching phenotype to genotype. Adv in Speech-Lang Path, 2006. 8: p. 28-33.
5. Jolleff N and Ryan MM. Communication development in Angelman's syndrome. Arch Dis Child, 1993. 69(1): p. 148-50.
6. Andersen WH, Rasmussen RK and Stromme P. Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children. Logoped Phoniatr Vocol, 2001. 26(1): p. 2-9.
7. Didden R, Korzilius H, Duker P, et al. Communicative functioning in individuals with Angelman syndrome: a comparative study. Disabil Rehabil, 2004. 26(21-22): p. 1263-7.