It is vital for speech-language pathologists (as well as psychologists and physicians) to be aware of this recently identified syndrome and consider it as a possible diagnosis when evaluating someone with the associated speech-language and social-behavioral profiles and the characteristic facies. The relevant speech/language characteristics include mixed oral-motor and motor speech symptoms; severe speech delay; and expressive language delay. Commonly associated behavioral difficulties include social anxiety sometimes accompanied by selective mutism, ADHD, ODD, and sensory processing differences. Importantly, the consequences of social anxiety, selective mutism, sensory processing differences, and expressive speech and language delay should be carefully distinguished from ASD.
Appropriate speech-language goals for children with Dup7 include age-appropriate non-speech oral motor functions (e.g., feeding); communicative competence in the nonverbal (e.g., gestures, eye contact, joint attention) modality; and intelligible, grammatical, and effective oral communication, as appropriate to the child’s age, developmental level, and severity of involvement. All of these areas of competence should be evaluated and addressed as appropriate. In cases of moderate to severe oral communication delay, goals addressing non-oral (e.g., sign language, PECs, AAC devices) communicative modalities should be included as well.
For the majority of children with Dup7 who demonstrate at least some symptoms consistent with CAS, strategies developed to remediate motor speech programming and planning deficits are most appropriate. For children who have little or no useful oral communication, the initial goal is automaticity – to facilitate the development of a core set of highly functional, phonetically simple vocalizations, such as “no”, “more”, and “mine”. These should be selected through consultation with all relevant stakeholders – family, school, therapists, etc. Because sound effects (“pow”, “baa”, etc.) and emotional words (“uh-oh”, “whee”, “wow”, “ooh”, etc.) are typically both phonetically simple and easier for children with motor planning/programming disorders to produce, these are often good choices.
The use of verbal routines – such as songs, predictable books, and greeting or bedtime rituals – is also very helpful for young children. These involve low communication pressure, especially when produced in unison (e.g., singing or reciting in the classroom), because they are predictable. Verbal routines selected through consultation with relevant adults can be carried through in all contexts, thereby maximizing their automaticity and functionality for the child.
However, it is important to note that facilitating automaticity for a set of words and phrases does not address the core problem associated with motor programming/planning disorders. The most powerful feature of human communication is its flexibility. Once the child has a core set of communicative vocalizations and a clear understanding of the functions and benefits of oral communication, other strategies must be used to develop his or her ability to program and plan intelligible novel utterances at will.
Appropriate motor speech programming/planning strategies for this purpose include multimodal input, including tactile cues such as those used within Prompts for Restructuring Oral Motor Phonetic Targets (PROMPT; Hayden, 2004
). A recent study by Dalton (2011)
suggests that children with suspected CAS may benefit more from tactile cues than from auditory + visual cues (i.e., visual imitation on command). Participants in our study have benefited from PROMPT therapy. Other types of multimodal input include rhythmic cues (e.g., singing), gestural cues, and speaking in unison (Strand & Skinder, 1999
). However, modeled rhythms should always be speech-like. Otherwise, robotic “excess equal stress” speech (Shriberg, Aram, & Kwiatkowski, 1997
), which calls negative attention to the speaker, may result. Also, the SLP can use puppets, finger plays, gestures, sign, or augmentative communication devices to draw the child’s focus away from the mouth, a tactic that is especially helpful for children with selective mutism. Such non-speech forms of communication (and AAC of any kind) are not intended to replace oral communication, but rather to supplement and facilitate it by reducing communication pressure associated with speech. Gestures, picture cues – such as those provided in the Fokes Sentence Builder (Fokes, 1976
) – or written words for those who are old enough, can be used to help the child to structure longer utterances, such as those including multiple words.
Other relevant principles of motor learning include repetitive practice; many trials are necessary. However, excessive repetitions of the same stimuli are not appropriate, as they yield automaticity but not flexibility. Motor learning studies demonstrate that motor patterns are learned and generalized more effectively when a variety of exemplars is practiced and when practice of different patterns is alternated. For example, when working on production of final consonants, a variety of consonants (that are already in the child’s repertoire) should be targeted in that position. In addition, one other goal should be included in the same session, in alternating fashion if possible. Finally, feedback frequency should be gradually decreased so that the child will begin to self-monitor instead of relying on external feedback alone.
As indicated above, phonotactics – production of more complex word and syllable shapes – is an area of particular weakness for many children with Dup7 (as it is for children with CAS). Therefore, it is often appropriate for phonotactic goals – such as production of final consonants, consonant clusters, and weak syllables – to be prioritized. Note that articulatory accuracy is not the target of such goals. For example, if the objective is that the child will produce final consonants in CVC words, the production of any final consonant meets that goal. The correct final consonant should always be modeled, but articulatorily inaccurate responses should be accepted as long as the coda position is filled (i.e., some final consonant is produced).
Because progress tends to be gradual, objectives should target small, systematic, achievable steps. For example, for a child with many vowel deviations, it is more appropriate to start with an objective such as, “Sherry will produce high vowels as such 90% of the time” – i.e., when attempting to produce a word with a high vowel (such as [i, u, ɪ,
]), she will produce any high vowel, but not a mid or low vowel – rather than “Sherry will produce vowels with 90% accuracy,” a vague and overwhelming goal. As noted above, the correct model should always be provided even if an approximation will be accepted in the response.
When remediating morphological deficits, it is important to take phonetic factors as well as grammatical factors into account. Although this is not the typical order of acquisition, it is easier for children with significant motor speech disorders (or other speech sound disorders) to produce whole-syllable morphemes (such as “ing” and the plural “es” in “horses”, the third person singular “es” in “catches”, or the past tense “ed” in “patted”) than those that require the production of a cluster (such as the [nz] of “pans” or the [kt] of “kicked”). As long as some portion of the syllable is present, the meaning of the morpheme is communicated (e.g., if the child says [h
] for “horses”, the listener will recognize the plural even though the final [z] is not produced). As noted above, gestural, pictorial (e.g., Fokes Sentence Builder), or written cues can help the child to learn to formulate new sentence structures.
Children with speech sound disorders and/or language disorders are at increased risk for phonological awareness and literacy deficits. Research has demonstrated that intervention that addresses speech production and phonological awareness/literacy in tandem yields stronger results in both domains (Moriarty & Gillon, 2006
). Materials such as Lindamood LiPS (Lindamood & Lindamood, 1998
) that take such an approach, including phonics training, can facilitate this work.
For adolescents with Dup7 who have persistent speech-language issues, the focus of intervention may shift to self-monitoring/self-teaching strategies, listener awareness, repair strategies, and self-advocacy. For example, older students might be taught skills for determining and practicing the pronunciation of unfamiliar multisyllabic words encountered in academic contexts. Another role for the SLP could be in helping the student to prepare for oral presentations, including a voice in the determination of the assigned grades for such projects.
Findings from a pair of case studies (Currier, Velleman & Mervis, 2010
) that we have carried out and another child who made quite striking progress have reinforced the hypothesis that appropriate, intensive speech-language therapy, when combined with behavioral intervention and appropriate academic supports, makes a large positive difference in the outcomes of children with Dup7. It is very important to note that behavioral challenges, especially ODD, may interfere with the children’s ability to benefit from intervention if they are not assertively addressed both at school and at home. Thus, strong family and academic supports that address social-behavioral skills as well as speech-language and academic skills are critical for children with Dup7. Duplication Cares (www.duplicationcares.org
), a support group created by families of children with Dup7 for other such families, provides very helpful information as well as the opportunity for families to share challenges and triumphs.
Intense one-on-one speech-language therapy provided by a licensed, certified speech-language pathologist with experience in motor speech disorders is almost always required for young children with Dup7 to introduce new skills and address areas of greatest challenge. In addition, small group therapy (e.g., 3 children total, including the child with Dup7) or therapy provided by an SLPA or a less experienced SLP may supplement primary therapy for carryover of skills emerging from more intense therapy sessions. Session durations will vary depending on the child’s attention span and related factors, but in our experience at least two or three hours of therapy per week with a licensed, certified SLP are typically necessary. As the child’s intelligibility, sentence formulation, and literacy skills approach age expectations, the frequency of therapy may be reduced.
Participation in class is a challenge for most children with Dup7, due to both their significant speech-language difficulties and their social anxiety. This challenge will be compounded, in some cases, by ADHD, ODD, and/or selective mutism. These problems will be best addressed if teachers, SLPs, psychologists, and other individuals involved in the children’s education and care work together with their families.