Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

Background Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. Case presentation A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the KAT6A gene (c.1312C>T, p.[Arg438*]) at 2 months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones. Conclusions In this study, we describe a case with a novel KAT6A variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.

Clinical Significance of Electroencephalography in Children with Specific Learning Disorders

A specific learning disorder (SLD) is a neurodevelopmental disorder in which academic skills, such as reading, writing, and mathematics ability, are below the expected range. This study was conducted to determine the relationship between spike-wave index and SLD in children. We recruited 110 child psychiatry outpatients (38 girls, 72 boys) with SLDs for this study between January 2015 and March 2018. The mean ± standard deviation patient age was 9.17 ± 1.87 years. Electroencephalography (EEG) findings were abnormal in 20.9% of children. We found that children with expressive language delay and who were born prematurely had a significantly higher risk of spike-wave index. Attention deficit/hyperactivity disorder was present in 55.5% of children with SLD. This comorbidity was significantly higher in children with a history of prenatal smoking exposure or premature birth. The EEG findings were particularly important in cases of SLD in children who were born prematurely and had expressive language delay. The spike-wave index is a potential marker of SLD and can be easily and noninvasively detected by EEG.

Parent-implemented language intervention delivered by therapy assistants for two-year-olds at risk of language difficulties: A case series

The aims of this small-scale study were to explore the feasibility and outcomes of a parent-implemented intervention for two-year-olds at risk of language difficulties, and to explore the implications for the public health model of speech and language therapy (SLT). This adds to limited research into targeted SLT public health interventions. It is the first study to investigate early language intervention delivered by trained therapy assistants (TAs) rather than clinicians. Nine children aged between 26 and 31 months took part. Seven (78%) completed the six-session intervention. The outcome measure was the Words subscale of the Language Use Inventory. The gross motor subscale of the Ages and Stages Questionnaire was used as a control measure. Children’s skills were assessed twice before intervention and once afterwards. At baseline, six participants had expressive language delay and no wider speech, language and communication needs (SLCNs). Five of this subgroup showed language use skills within the typical range following intervention. At baseline, three participants had expressive language delay and previously undetected receptive language and/or social interaction difficulties. None of this sub-group showed improved age-adjusted language use skills following intervention. All nine participants had gross motor skills in the typical range at each time point. These exploratory findings suggest this targeted intervention is feasible. This study presents no evidence of short-term impact of this intervention for two-year-olds with expressive language delay and wider SLCNs. These findings suggest this targeted language intervention for two-year-olds may be associated with accelerated language development for some two-year-olds at risk of language difficulties because of expressive language delay; and may help identify two-year-olds with previously undetected wider SLCNs, and therefore facilitate early access to specialist support. We highlight limitations in the study size, design and outcome measures, and identify how these preliminary findings can inform future research.

What Our Hands Tell Us: A Two-Year Follow-Up Investigating Outcomes in Subgroups of Children With Language Delay

Purpose This study followed up children identified with expressive language delay (ELD) or receptive/expressive language delay (R/ELD) at 2 years of age, Time 1 (T1), in order to identify their language profiles at 4–5 years, Time 2 (T2), and explore relationships to T1 language, gesture use, and symbolic comprehension. Method Nineteen of 22 children were seen at follow-up (9 of 10 from R/ELD group, 10 of 12 from ELD group). T1 measures assessed receptive and expressive language, gesture use, and symbolic comprehension. At T2, we assessed receptive and expressive language, sentence repetition, and expressive phonology. Results Outcomes for the R/ELD group were significantly poorer, with all children continuing to have delay in receptive and/or expressive language compared to just 20% of the ELD group. Expressive phonology delay was common in both groups. T1 receptive language showed the most pervasive correlations with T2 language measures, but categorical performance on all three T1 measures correctly predicted language outcomes in 16–17 of the 19 children. Conclusion Findings add to evidence that receptive language is a strong predictor of outcomes. Gesture use and symbolic comprehension are also strong predictors and clinically valuable as part of play-based assessments with implications for theoretical understanding and intervention planning.

Effects of a Conversation-Based Intervention on the Linguistic Skills of Children With Motor Speech Disorders Who Use Augmentative and Alternative Communication

Purpose This study was conducted to evaluate the effects of a conversation-based intervention on the expressive vocabulary and grammatical skills of children with severe motor speech disorders and expressive language delay who use augmentative and alternative communication. Method Eight children aged from 8 to 13 years participated in the study. After a baseline period, a conversation-based intervention was provided for each participant, in which they were supported to learn and use linguistic structures essential for the formation of clauses and the grammaticalization of their utterances, such as pronouns, verbs, and bound morphemes, in the context of personally meaningful and scaffolded conversations with trained clinicians. The conversations were videotaped, transcribed, and analyzed using the Systematic Analysis of Language Transcripts (SALT; Miller & Chapman, 1991). Results Results indicate that participants showed improvements in their use of spontaneous clauses, and a greater use of pronouns, verbs, and bound morphemes. These improvements were sustained and generalized to conversations with familiar partners. Conclusion The results demonstrate the positive effects of the conversation-based intervention for improving the expressive vocabulary and grammatical skills of children with severe motor speech disorders and expressive language delay who use augmentative and alternative communication. Clinical and theoretical implications of conversation-based interventions are discussed and future research needs are identified. Supplemental Materials https://doi.org/10.23641/asha.5150113