Conducting a Community Engagement Studio to Adapt Enhanced Milieu Teaching

Purpose: Barriers to implementing evidence-based practices occur at various levels. Stakeholder input is required to identify challenges specific to clinical practice settings, client populations, and service delivery approaches. The purpose of this project was to solicit feedback from stakeholders on the telepractice service delivery and implementation strategies proposed for a future study of enhanced milieu teaching (EMT) in rural counties. Method: A Community Engagement Studio was conducted with 11 caregivers of children with language delays living in rural counties. Caregivers and the researchers discussed early intervention service delivery for children with language delays in rural Oregon and the proposed telepractice EMT procedures. Researchers gathered feedback on three intervention components: session frequency and schedule, implementation strategies to encourage caregivers' use of EMT, and performance feedback techniques to teach caregivers. Results: Findings from the Community Engagement Studio led to four primary modifications to the telepractice EMT study protocol. The principal investigator increased available days and times for intervention sessions and added text-message reminders for parents. A survey was also added for caregivers to identify their preferences for additional implementation strategies (e.g., tip sheets, checklist, e-mailed session summaries) and graphic representations of performance feedback (e.g., bar graph, radial graph, mountain climber infographic). Conclusion: Community Engagement Studios are a promising method for increasing community engagement in clinical research and soliciting stakeholder feedback on evidence-based intervention adaptations. Supplemental Material: https://doi.org/10.23641/asha.17774819

Using a Collaborative Academic Conversation Approach to Improve Language and Literacy

Purpose: This tutorial describes a comprehensive approach to the development of collaborative academic conversations in older students with language delays and impairments. Support materials including a link to an instructional video are provided. Conclusions: These students require systematic, explicit instruction to develop competence and to acquire the thinking and language skills required to productively engage in a collaborative academic conversation. Speech-language pathologists are uniquely equipped to prepare students for gainful participation and to collaborate with classroom teachers, ensuring transfer of language and thinking skills. Supplemental Material https://doi.org/10.23641/asha.16799545

Vocabulary Development and the Shape Bias in Children With Hearing Loss

Purpose Although children with hearing loss (HL) can benefit from cochlear implants (CIs) and hearing aids (HAs), they often show language delays. Moreover, little is known about the mechanisms by which children with HL learn words. One mechanism by which typically hearing (TH) children learn words is by acquiring word learning biases such as the “shape bias,” that is, generalizing the names of novel solid objects by similarity in shape. In TH children, the shape bias emerges out of regularities in the early vocabulary and, once acquired, has consequences for subsequent vocabulary development. Method Here, we ask whether children with HL exhibit similar word learning biases as TH children. In the current study, nineteen 2- to 3.5-year-old children with HL generalized the names of novel objects by similarity in shape or material. We compared their performance to that of 20 TH children matched on age and 20 TH children matched on vocabulary size. Results Children with HL were significantly less likely than age-matched TH children and vocabulary-matched TH children to generalize novel names to objects of the same shape. However, there was also an interaction such that vocabulary has a stronger effect on novel noun generalization for those with HL than for those who are TH. Exploratory analyses of children with HL reveal similar novel noun generalization and vocabulary sizes in children who use CIs and those who use HAs, regardless of hearing age or degree of HL. Conclusion Together, the results suggest that, although vocabulary knowledge drives development of the shape bias in general for all children, it may be especially important for children with HL, who are at risk for language delays.

Prospective and detailed behavioral phenotyping in DDX3X syndrome

Background DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored. Methods We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Three participants in this cohort were previously reported with limited phenotype information and were re-evaluated for this study. We compared results against population norms and contrasted phenotypes between individuals harboring either (1) protein-truncating variants or (2) missense variants or in-frame deletions. Results Eighty percent (80%) of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype–phenotype correlations indicated that, on average, missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants. Limitations Sample size is modest, however, DDX3X syndrome is a rare and underdiagnosed disorder. Conclusion This study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype–phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes.

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly

Background 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies of obesity and autism spectrum disorder. Case presentation This study presents three cases of deletions within the 16p11.2 region. Every child had mild variable craniofacial abnormalities, hand or foot anomalies and developmental and language delays. The first proband had obesity, epilepsy, moderate intellectual disability, aphasia, motor delay, hyperinsulinism, and café au lait spots. The second proband suffered from cardiac, pulmonary, and haematological problems. The third proband had motor and language delays, bronchial asthma, and umbilical hernia. Although each patient presented some features of the syndrome, the children differed in terms of their clinical pictures. Genetic diagnosis of 16p11.2 microdeletion syndrome was made in children at different ages based on multiplex ligation probe-dependent amplification analysis and/or microarray methods. Conclusions Our reports allow us to analyse and better understand the biology of 16p11.2 microdeletion throughout development. However, the variability of presented cases supports the alternate conclusion to this presented in available literature regarding 16p11.2 deletion, as we observed no direct cause-and-effect genotype/phenotype relationships. The reported cases indicate the key role of the interdisciplinary approach in 16p11.2 deletion diagnostics. The care of patients with this anomaly is based on regular health assessment and adjustment of nervous system development therapy.

Prospective and detailed behavioral phenotyping in DDX3X syndrome

ABSTRACTBackgroundDDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay (DD) and/or intellectual disability (ID) in females and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored.MethodsWe carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures; three participants in this cohort have been previously reported. We compared results against population norms and contrasted phenotypes between individuals harboring either (i) protein-truncating variants or (ii) missense variants and in-frame deletions.ResultsEighty percent of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype-phenotype correlations indicated that missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants.LimitationsSample size is modest, however, DDX3X is a rare and underdiagnosed disorder.ConclusionThis study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions yielding a more severe phenotype.

Supervised Group Training of Analogical Reasoning in Children with Cochlear Implants: No Transfer Effects.

Analogical reasoning has been argued to be of importance for language development. Deaf and hard of hearing (DHH) children with cochlear implants (CI) are at risk of having language delays. The aim of the current study was therefore to investigate if the analogical reasoning and language ability of children with CI can be improved by means of cognitive training. Based on previous research the children trained, with supervision, in groups to increase the metacognitive aspect of the training. The results do not indicate any general effects of the training on the analogical reasoning ability of the children included in the current study. Furthermore, no evidence for a paradigmatic transfer of the training, resulting in improvements of language development, was found.

Association of Sibling Presence with Language Development from Infancy to Early School Age Among Children with Developmental Difficulties: A Longitudinal Study

BackgroundSiblings are crucial familial-ecological factors in children’s language development. However, it is unclear whether sibling presence is associated with language development among young children with developmental difficulties. The aim of this study was to assess the association between sibling presence and changes in language trajectories of children with developmental delay before early school age. MethodsWe performed a retrospective longitudinal cohort study from December 2008 through February 2016. The medical records of the participants were collected from an official institution designated by Taiwan’s Ministry of Health and Welfare for assessing and identifying young children with developmental difficulties. A total of 174 participants who had developmental difficulties and at least three-waves of evaluations were included in the analysis. Participants’ age ranged from 10 to 90 months. The primary outcomes were receptive and expressive language delays evaluated by board-certified speech-language pathologists. ResultsOf the 174 participants (131 boys; at the first evaluation: mean [standard deviation (SD)] age, 31.74 [10.15] months) enrolled, 64.94% (n=113) had siblings and 35.06% (n=61) did not. At the age of approximately 10 months, the probability of receptive and expressive language delays was lower in participants with siblings than in those without (adjusted odds ratios, 0.19, 0.18; 95% confidence interval [CI], 0.06-0.64, 0.04-0.80; P=0.006, 0.024, respectively). However, at 10–90 months old, this probability of language delay became gradually higher in participants with siblings than in those without, exceeding that of participants without siblings (adjusted odds ratios, 1.04, 1.04; 95% CI, 1.01-1.07, 1.01-1.07; P=0.014, 0.020, respectively)ConclusionsHaving siblings does not necessarily have a positive association on the language development of children with developmental difficulties. Clinicians should consider the association of sibling presence with language development for these children in a broader familial-ecological context.