Language Disorders in Chromosome 15q Duplication Syndrome

Overview
Speech and language delays are a common characteristic of chromosome 15q duplication syndrome (dup15q), although there is wide variability in the degree to which a child may be affected. Children at the mildly affected end of the spectrum may be highly verbal, but may have impairments of social communication, showing a lack of response to social cues.1

At the more involved end of the spectrum, expressive language may be absent or may remain very poor. Speech is often highly repetitive or echolalic with immediate and delayed echolalia and pronoun reversal. Intention to communicate may be very poor or almost absent.2 In infancy, these children may demonstrate both feeding difficulties and hypotonia. There is often a marked delay in reaching motor milestones. Those that develop speech often experience significant difficulties with communication and social interaction in the first 3 years of life.3 Some children at the involved end of the spectrum do not ever develop speech.

In her study of dup15q syndrome, Dr. Carolyn Schanen found 26 of 47 children (55%) with isodicentric 15 had some language at the time of their participation in the research study. These children’s first word was achieved at an average of 28.7 months (range 7-84 months) and phrase speech was noted at an average of 44.1months (range 9-114 months). Among the 21 non verbal children, 12 were less than or at 60 months when they participated in the study and may still develop speech. For the eight kids with interstitial duplications of chromosome 15, all had some language at the time of testing as well, with an average age at first word at 38m (range 14-60 months) and onset of phrase speech at 61 months (range 24-90m).4

Many non verbal or minimally verbal children with dup15q syndrome successfully use alternative and augmentative communication, including picture exchange, letter boards, and voice output devices.

Treatment Considerations
No one treatment method has been found to successfully improve communication in all individuals with dup15q syndrome. It is recommended that treatment begin immediately after a child’s diagnosis, and should include the following components.

  1. Treatment should be individually tailored, with special attention to activities and games that are highly interesting to the child. The sensory needs of the child should be fully evaluated and sensory activities should be incorporated. Co-treatment with an occupational and/or physical therapists may help reduce unwanted behaviors that may interfere with the development of communication skills.
  2. Treatment should target both behavior and communication.
  3. Treatment should involve parents and primary caregivers to extend communication activities beyond the therapy setting.

The first goal of therapy should be to improve functional communication. For some, verbal communication is a realistic goal. For others, the goal may be gestured communication. Still others may benefit from a goal of communicating by means of a symbol system such as picture or letter boards.5

Choosing the right treatment
The first step in choosing the right treatment is a comprehensive evaluation of the child’s present level of communication and oral motor function. This evaluation should be conducted by a licensed speech language pathologist (SLP). An SLP experienced working with children with autism and familiar with the treatment options that have been used successfully with this population can help parents identify the therapy options most likely to help the child.

Some things to consider when selecting a treatment option include:

  1. Does the child respond well to highly structured behavior modification programs?
  2. Would the child respond better to in-home therapy that uses real situations as the basis for therapy?
  3. Does the child respond well and have a significant interest in music?
  4. Does the child’s sensory needs require treatment that includes sensory integration activities?

Therapies designed and evaluated for children with autism spectrum disorders may be especially helpful for children with dup15q syndrome, many of whom also have a diagnosis of autism. Following is a description of the most common treatments used to address language issues in children with autism spectrum disorders.

Speech Language Therapy
The purpose of speech-language therapy is to enhance intentional communication through the shared expression of ideas and desires, sharing information and interpersonal interaction. Speech-language therapy involves having a speech-language specialist work with a child on a one-to-one basis, in a small group or directly in a classroom to overcome communication difficulties.

Augmentative & Alternative Communication (AAC)
AAC may be helpful for individuals with impairments in gestural, spoken, and/or written communication. At its most basic level, AAC is anything that helps a person communicate when traditional spoken or written forms of communication are limited. Augmentative Communication involves strategies that that are clearly an addition to natural speech and/or handwriting. Alternative communication may be used to refer to an approach that provide a substitute for (or alternative to) natural speech and/or handwriting.

Picture Exchange Communication System (PECS)
The Picture Exchange Communication System (PECS) is an augmentative communication system developed to help individuals acquire a functional means of communication (Bondy and Frost, 1994). PECS training occurs during typical activities within the natural settings of the classroom and the home. PECS uses ABA-based methods to teach children to exchange a picture for something they want - an item or activity. The advantage to PECS is that it is clear, intentional, and initiated by the child. The child hands you a picture, and his or her request is immediately understood.

Pivotal Response Treatment (PRT)
Pivotal Response Treatment (PRT) is a naturalistic intervention model producing positive changes in critical behaviors, leading to generalized improvement in communication, social, and behavioral areas. Rather than target individual behaviors one at a time, PRT targets pivotal areas of a child's development, such as motivation, responsivity to multiple cues, self-management, and social initiations. By targeting these critical areas, PRT results in widespread, collateral improvements in social, communicative, and behavioral areas.

Floortime
Floor time is an intervention developed by Dr. Stanley Greenspan and described in his book The Child with Special Needs. Floor time involves engaging a child at his or her current level of functioning, working with the unique features of the child’s nervous system, and utilizing intensive interactive experiences to enable him or her to master new capacities, especially in the areas of communication and social relatedness. During floor time, children at first learn the basics of engaging with others and how to take initiative, make wishes and needs known, and get responses. Floor time then creates opportunities for children to have sustained interactions, first without words and later with them. Floor time can be implemented, both as a procedure and as a philosophy, at home, in school, and as a part of a child's different therapies.

Music Therapy
Music therapy is intentional use of music and relationships developed through music to develop and enhance life skills as well as promote the potentials of the individual. Music therapy can be used to promote communication in children with dup15q syndrome, both in terms of receptive language (understanding 1-step directions; “wh” questions, etc.) and expressive language (through choice making, vocal expression, and songs). Music therapy takes place as part of a therapeutic process with a qualified music therapist.

Total Communication
Total communication (the simultaneous use of spoken and sign language) is a well- accepted methodology for teaching language and communication skills to young nonverbal children with a diagnosis of Autism Spectrum Disorder. Studies have demonstrated that this approach facilitates spoken language acquisition in some children, while others may gain sign communication skills in the absence of spoken language acquisition. A review of the research to date suggests that the efficacy of a total communication approach for children with autism lies predominantly in facilitating the acquisition of beginning vocabulary comprehension and expression.

Verbal Behavior
Verbal Behavior is a methodology developed by Dr. Vincent Carbone that is based upon behavioral principles, but combines the functionality and generalization of Floortime. Verbal Behavior relies on an intensive teaching setting, fast tempo, and lots of questions from the adult and later the child.

Resources

  1. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS: Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A. 2006 Mar 1;140(5):434-41.
  2. Battaglia, A.: The inv dup(15) or idic(15) syndrome: a clinically recognizable neurogenetic disorder. Brain Dev. 2005. 27:365-369.
  3. Dennis et al (2006).
  4. Schanen C, Cleary N: Research Update Molecular Investigations of Duplications of Chromosome 15 in Autism, Published in MIRROR Newsletter, Fall 2006.
  5. National Institute on Deafness and Other Communication Disorders: Autism and Communication, NIH Pub. No. 99-4315, October 1998.

Information compiled by Nicole Cleary, M.S.S.
Last Updated: August 18, 2006