Relations Between Selective Mutism and Speech Sound Disorder in Children With 7q11.23 Duplication Syndrome.

PURPOSE: The aim of this study was to explore relations between speech sound disorder severity and selective mutism in a group of children with 7q11.23 duplication syndrome (Dup7), a genetic condition predisposing children to childhood apraxia of speech (CAS) and other speech sound disorders and to anxiety disorders, including selective mutism and social anxiety disorder. METHOD: Forty-nine children aged 4-17 years with genetically confirmed Dup7 completed the Goldman-Fristoe Test of Articulation-Second Edition (GFTA-2), the Expressive Vocabulary Test-Second Edition (EVT-2), and the Differential Ability Scales-Second Edition (DAS-II). Parents completed the Anxiety Disorders Interview Schedule-Parent (ADIS-P). RESULTS: Mean standard scores (SSs) were 65.67 for the GFTA-2, 92.73 for the EVT-2, and 82.69 for the DAS-II General Conceptual Ability (GCA; similar to IQ). Standard deviations for all measures were larger than for the general population. GFTA-2 SS was significantly correlated with both EVT-2 SS and DAS-II GCA. Based on the ADIS-P, 22 participants (45%) were diagnosed with selective mutism and 29 (59%) were diagnosed with social anxiety disorder. No significant differences in performance on any of the measures were found either between the group with a selective mutism diagnosis and the group that did not have selective mutism or between the group with a selective mutism and/or social anxiety disorder diagnosis and the group that did not have either disorder. CONCLUSIONS: For children with Dup7, neither the diagnosis of selective mutism nor the diagnosis of selective mutism and/or social anxiety disorder was related to severity of speech sound disorder, expressive vocabulary ability, or overall intellectual ability. Accordingly, treatment for speech sound disorder alone is unlikely to lead to remission of selective mutism or social anxiety disorder. Instead, selective mutism and/or social anxiety disorder should be treated directly. Further research is needed to determine if these findings generalize to other populations, such as children with idiopathic CAS.

Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.

Limited evidence for early indicators of childhood apraxia of speech (CAS) precludes reliable diagnosis before 36 months, although a few prior studies have identified several potential early indicators. We examined these possible early indicators in 10 toddlers aged 14-24 months at risk for CAS due to a genetic condition: 7q11.23 duplication syndrome (Dup7). Phon Vocalisation analyses were conducted on phonetic transcriptions of each child's vocalisations during an audio-video recorded 30-minute play session with a caregiver and/or a trained research assistant. The resulting data were compared to data previously collected by Overby from similar-aged toddlers developing typically (TD), later diagnosed with CAS (LCAS), or later diagnosed with another speech sound disorder (LSSD). The Dup7 group did not differ significantly from the LCAS group on any measure. In contrast, the Dup7 group evidenced significant delays relative to the LSSD group on canonical babble frequency, volubility, consonant place diversity, and consonant manner diversity and relative to the TD group not only on these measures but also on canonical babble ratio, consonant diversity, and vocalisation structure diversity. Toddlers with Dup7 also demonstrated expressive vocabulary delay as measured by both number of word types orally produced during the play sessions and primary caregivers' responses on a standardised parent-report measure of early expressive vocabulary. Examining babble, phonetic, and phonotactic characteristics from the productions of young children may allow for earlier identification of CAS and a better understanding of the nature of CAS.

Defining Expressive Language Benchmarks for Children with Down Syndrome.

Establishing expressive language benchmarks (ELBs) for children with Down syndrome (DS), as developed by Tager-Flusberg et al. for children with autism, is critically needed to inform the development of novel treatments, identify individualized treatment targets, and promote accurate monitoring of progress. In the present study, we assessed ELB assignments in three language domains (phonology, vocabulary, and grammar) for 53 young children with DS (CA range: 2.50-7.99 years) using standardized assessments. The participants were classified into one of four ELB levels (preverbal, first words, word combinations, and sentences) in each language domain. Associations with additional measures of language, chronological age, nonverbal cognition, and verbal short-term memory were considered. Analyses of individual ELB profiles indicated substantial variability across the three language domains, with six different patterns of variation across domains emerging. At the same time, the ELB categories were significantly associated with independent language measures and broader developmental domains. Moreover, ELB changes were observed in a small sample of children with DS reassessed 18-24 months after the initial visit. Results from the present study suggest the procedures outlined by Tager-Flusberg et al. for defining ELBs are a potentially useful tool for describing the language abilities of children with DS.

Patterns and predictors of adaptive skills in 2- to 7-year-old children with Down syndrome.

BACKGROUND: There is substantial variability in adaptive skills among individuals with Down syndrome. Few studies, however, have focused on the early developmental period or on the potential sources of variability in adaptive skills. This study characterizes adaptive skills in young children with Down syndrome and investigates child characteristics associated with adaptive skills. METHODS: Participants were 44 children with Down syndrome ranging in age from 2.50 to 7.99 years (M = 4.66 years, SD = 1.46). The Vineland Adaptive Behavior Scales-3 (VABS-3) Comprehensive Interview Form was used to assess adaptive behavior in the three core domains: socialization, daily living, and communication skills. Caregivers also reported on motor skills and autism spectrum disorder symptoms. Child cognitive abilities were assessed. RESULTS: Analyses comparing mean standard score performance across the three VABS-3 core domains demonstrated significant differences between all pairs of domains, resulting in a group-level pattern of socialization > daily living > communication skills. At the individual level, 10 different patterns of relative strength and weakness were identified, with only 18% of participants evidencing significant differences between adaptive skill domain standard scores corresponding to the group-level pattern of significant differences. Child characteristics (cognitive abilities, motor skills, and autism spectrum disorder symptoms) were significantly associated with VABS-3 adaptive domain standard scores. CONCLUSION: These findings underscore the importance of individualizing intervention programs focused on improving the adaptive skills of young children with Down syndrome based on consideration of the child's relative adaptive strengths and weaknesses.

Age at Onset of Declarative Gestures and 24-Month Expressive Vocabulary Predict Later Language and Intellectual Abilities in Young Children With Williams Syndrome.

Background: One of the most consistent findings in the early language acquisition literature regarding children in the general population is that the onset of declarative pointing gestures precedes the onset of expressive referential language. Furthermore, frequency of early use of declarative gestures is a stronger predictor of later lexical development than early vocabulary size. These findings suggest that early declarative gestures may play a critical facilitative role in later language development. To evaluate the universality of these findings, we tested children with Williams syndrome (WS), a genetic disorder associated with both language and communicative gesture delay. Method: Participants were 47 children with classic-length WS deletions. Age of onset of declarative show and point were determined by parental report on the MacArthur-Bates Communicative Development Inventory (CDI): Words and Gestures. Expressive vocabulary size at onset of these gestures, first referential expressive word, 24 months, and 48 months and grammatical complexity at 48 months were determined by parental report on the CDI: Words and Sentences. Receptive and expressive vocabulary and overall intellectual ability at 48 months were measured using standardized assessments. Results: In contrast to previous findings for children in the general population, most children with WS began to produce referential language several months before they produced declarative point. A series of multiple regressions indicated that both age at onset of declarative point and expressive vocabulary size at 24 months made significant independent contributions to individual differences in lexical, grammatical, and overall intellectual ability at 48 months. Similarly to the findings for typically developing children and children with other developmental disabilities, individual differences in the declarative gesture measure accounted for considerably more variance in 48-month lexical ability than early expressive vocabulary size. Discussion: The transition from prelinguistic communication to initial referential language does not depend on the onset of the ability to use declarative point. Nevertheless, the length of time that a child has been producing declarative point was a better predictor than early expressive vocabulary of later lexical abilities. Thus, despite the earlier divergence in their path to language development from the typical one, the path for children with WS re-converges with that for typically developing children and children with other developmental disabilities.

Language and communicative development in Williams syndrome.

Williams syndrome, a genetic disorder caused by a microdeletion of approximately 25 genes on chromosome 7q11.23, is associated with mild to moderate intellectual disability or learning difficulties. Most individuals with Williams syndrome evidence a cognitive profile including relative strengths in verbal short-term memory and language, and considerable weakness in visuospatial construction. The syndrome has often been argued to provide strong evidence for the independence of language from other aspects of cognition. We provide a brief history of early research on the language abilities of individuals with Williams syndrome and then review contemporary studies of language and cognition in Williams syndrome, beginning with a consideration of performance on standardized assessments. In the remainder of the article, we first consider early language acquisition, with a focus on speech production and perception, vocabulary acquisition, and communicative/pragmatic development and then consider the language abilities of school-age children and adolescents, focusing on semantics, grammar, and pragmatics. We argue that rather than being the paradigm case for the independence of language from cognition, Williams syndrome provides strong evidence of the interdependence of many aspects of language and cognition.

Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.

Very little is known about the intellectual abilities and adaptive behavior of individuals who have Kabuki syndrome, beyond the fact that most individuals with this syndrome have mental retardation. To fill this gap, we have completed psychological assessments of 11 children and adolescents with Kabuki syndrome. Results indicated that most of the participants functioned in the range of mild mental retardation, with both intellectual and adaptive behavior in the mildly deficient range and problem behaviors, if any, limited to mild difficulties with inattention and/or hyperactivity-impulsivity and mild problems with obsession/anxiety. At the lower extreme, one child evidenced severe mental retardation and profound adaptive behavior impairment accompanied by serious externalizing and internalizing problem behaviors. At the upper extreme, one adolescent had average intelligence and adaptive behavior, with problem behaviors well within the normal range for his chronological age. Most participants evidenced relative intellectual strengths in verbal and reasoning abilities and a relative weakness in visuospatial construction abilities. This pattern affected adaptive behavior as well, yielding a relative strength in Social Interaction and Communicative Skills and considerable weakness in Motor Skills and Personal Living Skills.