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INTRODUCTION: Children who are deaf or hard-of-hearing (DHH) are at risk for speech and language delay. Language outcomes are worse in DHH children from lower socioeconomic backgrounds, due in part to disparities in access to specialised speech-language therapy. Teletherapy may help improve access to this specialised care and close this language gap. Inclusion of diverse DHH children in prospective randomised clinical trials has been challenging but is necessary to address disparities and pursue hearing health equity. Stakeholder input regarding decisions on study design elements, including comparator groups, masking, assessments and compensation, is necessary to design inclusive studies. We have designed an inclusive, equitable comparativeness effectiveness trial to address disparities in paediatric hearing health. The specific aims of the study are to determine the effect of access to and utilisation of speech-language teletherapy in addressing language disparities in low-income children who are DHH. METHODS AND ANALYSIS: After stakeholder input and pilot data collection, we designed a randomised clinical trial and concurrent longitudinal cohort trial to be conducted at four tertiary childrens hospitals in the USA. Participants will include 210 DHH children aged 0-27 months. 140 of these children will be from lower income households, who will be randomised 1:1 to receive usual care versus usual care plus access to supplemental speech-language teletherapy. 70 children from higher income households will be simultaneously recruited as a comparison cohort. Primary outcome measure will be the Preschool Language Scales Auditory Comprehension subscale standard score, with additional speech, language, hearing and quality of life validated measures as secondary outcomes. ETHICS AND DISSEMINATION: This study was approved by the Institutional Review Boards of the participating sites: the University of California, San Francisco (19-28356), Rady Childrens Hospital (804651) and Seattle Childrens Hospital (STUDY00003750). Parents of enrolled children will provide written informed consent for their childs participation. Professional and parent stakeholder groups that have been involved throughout the study design will facilitate dissemination and implementation of study findings via publication and through national and regional organisations. TRIAL REGISTRATION NUMBER: NCT04928209.

Background: BCL11B variants are associated with intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (IDDSFTA) (OMIN 618092). The clinical features include neurodevelopmental disorders (psychomotor delay, intellectual disability, language delay, autism spectrum features), facial dysmorphisms, immunological manifestations (asthma, allergies and T cells decrease). The aim is to present an IDDSFTA case in Mexican population with a probably pathogenic variant that has not been reported before and to compare it with literature cases. Clinic case: A 4-years-old male presents neurodevelopmental and language delay, healthy parents, non-consanguineous. He presents incomprehensible language, joint attention, plagiocephaly, bilateral epicanthus, short palpebral fissures, prominent tip nose, long and flat philtrum, Likert scale 4, thin lips, small mouth, dental crowding, hypodontia, borderline set ears, small nipples and teletelia. WES test reported a BCL11B gene, probably a pathogenic variant. Conclusions: In line with the information available, the detected variant has not been described before in literature; it is the first case reported of this pathology in the Mexican population. Patient's clinical features are IDDSFTA-like reported, which supports that this likely pathogenic variant is the aetiology of the phenotype in our patient. [ABSTRACT FROM AUTHOR]

Eukaryotic translation elongation factor 2 (eEF2), encoded by the gene EEF2, is an essential factor involved in the elongation phase of protein translation. A specific heterozygous missense variant (p.P596H) in EEF2 was originally identified in association with autosomal dominant adult-onset spinocerebellar ataxia-26 (SCA26). More recently, additional heterozygous missense variants in this gene have been described to cause a novel, childhood-onset neurodevelopmental disorder with benign external hydrocephalus. Herein, we report two unrelated individuals with a similar gene-disease correlation to support this latter observation. Patient 1 is a 7-year-old male with a previously reported, de novo missense variant (p.V28M) who has motor and speech delay, autism spectrum disorder, failure to thrive with relative macrocephaly, unilateral microphthalmia with coloboma and eczema. Patient 2 is a 4-year-old female with a novel de novo nonsense variant (p.Q145X) with motor and speech delay, hypotonia, macrocephaly with benign ventricular enlargement, and keratosis pilaris. These additional cases help to further expand the genotypic and phenotypic spectrum of this newly described EEF2-related neurodevelopmental syndrome.

Evidence suggests autistic individuals at elevated familial likelihood of autism spectrum disorder (by virtue of having an autistic sibling) have stronger cognitive abilities on average than autistic individuals with no family history of the condition, who have a low familial likelihood of autism. Investigating phenotypic differences between community-referred infants and toddlers with autism symptoms at elevated or low familial likelihood of autism may provide important insight into heterogeneity in the emerging autism phenotype. This study compared behavioral, cognitive, and language abilities of community-referred infants and toddlers with confirmed autism symptoms at elevated (EL) or low familial likelihood of autism (LL). Participants were 121 children aged 12 to 36 months who participated in two larger randomized trials of parent-mediated interventions for children with autism symptoms. Behavioral phenotypes were compared across three groups: children with at least one autistic sibling (EL-Sibs, n = 30), those with at least one older, non-autistic sibling and no family history of autism (LL-Sibs, n = 40), and first-born children with no family history of autism (LL-FB, n = 51). EL-Sibs had less severe autism symptoms and stronger cognitive abilities than children in LL groups. While the rate of receptive language delay was similar across groups, the rate of expressive language delay was markedly lower among EL-Sibs. After controlling for age and nonverbal cognitive ability, EL-Sibs were significantly less likely to present with expressive language delay than LL-Sibs. Familial likelihood of autism may play an important role in shaping the emerging autism phenotype in infancy and toddlerhood.

Background The incidence of delay language development in early childhood is high, and the early recognition rate is low, which has a significant negative impact on the early childhood development of other dimensions. The family cognitive environment is a key factor affecting early childhood language development. Objective This study aimed to explore the influence of family cognitive environment on early childhood language development, and provide theoretical basis for promoting early childhood language development from the perspective of community intervention on family cognitive environment. Methods A retrospective case-control study was conducted on 4 307 children who were admitted to a community child healthcare department in Shanghai from 2018 to 2020. The Shanghai Pediatric Development Screening Scale Ⅱ (DenverⅡ) was used for developmental screening, which was conducted at the child's age of 1, 2, and 3 years old. A total of 172 children with delay language development were selected as the case group, and 516 children with normal language development were included in the control group, which was determined by the matching factor of age, with a ratio of the number of children in the case and control groups being 1∶3. The following information of children in both groups were collected, including children's basic birth characteristics, parental demographic characteristics, maternal pregnancy and childbirth characteristics, and family cognitive environment characteristics. The Logistic regression analysis was used to explore the influencing factors of delay early childhood language development. Results A total of 172 children with delayed early language development had an incidence rate of 3.99%, among them ,1-year-old, 2-year-old, and 3-year old children accounted for 33.14% (57 cases), 53.49% (92 cases), and 13.37% (23 cases), respectively. The proportions of male children, children with premature birth, and children with maternal education of high school and below were higher in the case group than those in the control group (P

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions from both de novo and inherited variation. Few studies have been designed to address the role of rare inherited variation or its interaction with common polygenic risk in ASD. Here, we performed whole-genome sequencing of the largest cohort of multiplex families to date, consisting of 4,551 individuals in 1,004 families having two or more autistic children. Using this study design, we identify seven previously unrecognized ASD risk genes supported by a majority of rare inherited variants, finding support for a total of 74 genes in our cohort and a total of 152 genes after combined analysis with other studies. Autistic children from multiplex families demonstrate an increased burden of rare inherited protein-truncating variants in known ASD risk genes. We also find that ASD polygenic score (PGS) is overtransmitted from nonautistic parents to autistic children who also harbor rare inherited variants, consistent with combinatorial effects in the offspring, which may explain the reduced penetrance of these rare variants in parents. We also observe that in addition to social dysfunction, language delay is associated with ASD PGS overtransmission. These results are consistent with an additive complex genetic risk architecture of ASD involving rare and common variation and further suggest that language delay is a core biological feature of ASD.

Preschool autistic children with significant global developmental delays and very limited language skills are at high risk for remaining minimally verbal at entry into primary school. This study compared two early intervention models for improving social communication and spoken language outcomes in 164 children who received intervention in their community preschool program for 6 months, with a six-month follow-up. The primary outcome measure was a standardized language assessment, and secondary measures focused on social communication. Results indicated children on average made 6 months gain in language development in the active 6 months of intervention with no difference between intervention models. Children who initiated joint attention more frequently, or who had higher receptive language at baseline made more progress if assigned to receive JASPER, a naturalistic developmental behavioral intervention. Children who received Discrete Trial Training made greater spoken language progress from exit to follow-up. These findings suggest that progress can be made in autistic children who have very little spoken language and who receive targeted early interventions. Individual trajectories vary and depend in part on initial abilities in social communication and receptive language. Future research might consider methods to systematically personalize approaches to fit child characteristics and family preference. LAY SUMMARY: This study compared two different early intervention approaches for teaching spoken language to minimally verbal, globally delayed autistic preschoolers. Children were given an hour of therapy daily for 6 months and then reassessed 6 months later. The majority of the 164 participants were from historically excluded populations (low income and minority), and therapy was delivered in school community settings by expert clinicians. Results indicated that the participants made significant progress regardless of intervention approach: 6 months gain in standardized language scores over 6 months, but slower progress during the period after therapy ended. Children who initiated joint attention more frequently, or who had higher language understanding at baseline made more progress if assigned to receive JASPER, a naturalistic developmental behavioral intervention. Children who received Discrete Trial Training made greater language progress during 6-month period after therapy ended. These findings suggest that progress can be made in children with ASD who have very little spoken language and who receive targeted early interventions.

Objective: To evaluate the rate of loss to follow-up in a cochlear implant program from the public health system in Southern Brazil as well as the characteristics of hearing loss, sociodemographic, sociocultural and the development of oral language in children with prelingual deafness. Methods: Retrospective cohort study with children who underwent CI surgery between 2010 and 2020. Data was collected through of interviews and review of medical records. The language development assessment was performed using the MUSS, MAIS and IT-MAIS scales. For the classification of language development, we used as parameters the values (mean ± SD) found in a previous national study. From those values, the Z-score for each patient at each hearing age (time of experience with the cochlear implant) was calculated. Results: Of the 225 children implanted between 2010–2020, 129 were included in this study. The rate of loss to follow-up in the program was 42.6%. The mean age at first surgery was 40.5 (±16.9) months, with 77.5% of patients having received a unilateral implant. Language results below the expected for hearing age (

PURPOSE: Semantic tasks evaluate dimensions of childrens lexical-semantic knowledge. However, the relative ease of semantic task completion depends on individual differences in developmental and language experience factors. The purpose of this study was to evaluate how language experience and language ability impact semantic task difficulty in English for school-age Spanish-English bilingual children with and without developmental language disorder (DLD). METHOD: Participants included 232 Spanish-English bilingual children in second through fifth grade with (n = 35) and without (n = 197) DLD. Data included childrens performance on the English Semantics subtest of the Bilingual English-Spanish Assessment-Middle Extension Field Test Version (BESA-ME), age of English acquisition, and percent English language exposure. Task difficulty, a measurement of the relative ease of task completion, was calculated for six semantic task types included on the BESA-ME. Multilevel regression modeling was conducted to estimate longitudinal growth trajectories for each semantic task type. RESULTS: Results showed that language ability and grade level drive semantic task difficulty for all task types, and children with DLD experienced greater difficulty on all task types compared to their typically developing peers. Longitudinally, semantic task difficulty decreased for all children, regardless of language ability, indicating that semantic task types became easier over time. While children made gains on all semantic tasks, the growth rate of task difficulty was not equal across task types, where some task types showed slower growth compared with others. English language exposure emerged as a significant predictor of semantic task difficulty while age of acquisition was not a significant factor. CONCLUSIONS: This study clarifies developmental profiles of lexical-semantic performance in bilingual children with and without DLD and supports clinical decision-making regarding childrens English language learning.