The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3 variants are associated with non-specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants). In this study, we describe the clinical features of 13 additional individuals and review the data on a total of 27 individuals (16 individuals with monoallelic and 11 with biallelic ANK3 variants) and demonstrate that the phenotype for biallelic variants is more severe. The phenotypic features include language delay (92%), autism spectrum disorder (76%), intellectual disability (78%), hypotonia (65%), motor delay (68%), attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) (57%), sleep disturbances (50%), aggressivity/self-injury (37.5%), and epilepsy (35%). A notable phenotypic difference was presence of ataxia in three individuals with biallelic variants, but in none of the individuals with monoallelic variants. While the majority of the monoallelic variants are predicted to result in a truncated protein, biallelic variants are almost exclusively missense. Moreover, mono- and biallelic variants appear to be localized differently across the three different ankyrin-G isoforms, suggesting isoform-specific pathological mechanisms.

Association between neural prosody discrimination and language abilities in toddlers: a functional near-infrared spectroscopy study.

BACKGROUND: Language delay affects near- and long-term social communication and learning in toddlers, and, an increasing number of experts pay attention to it. The development of prosody discrimination is one of the earliest stages of language development in which key skills for later stages are mastered. Therefore, analyzing the relationship between brain discrimination of speech prosody and language abilities may provide an objective basis for the diagnosis and intervention of language delay. METHODS: In this study, all cases(n = 241) were enrolled from a tertiary women's hospital, from 2021 to 2022. We used functional near-infrared spectroscopy (fNIRS) to assess children's neural prosody discrimination abilities, and a Chinese communicative development inventory (CCDI) were used to evaluate their language abilities. RESULTS: Ninety-eight full-term and 108 preterm toddlers were included in the final analysis in phase I and II studies, respectively. The total CCDI screening abnormality rate was 9.2% for full-term and 34.3% for preterm toddlers. Full-term toddlers showed prosody discrimination ability in all channels except channel 5, while preterm toddlers showed prosody discrimination ability in channel 6 only. Multifactorial logistic regression analyses showed that prosody discrimination of the right angular gyrus (channel 3) had a statistically significant effect on language delay (odd ratio = 0.301, P < 0.05) in full-term toddlers. Random forest (RF) regression model presented that prosody discrimination reflected by channels and brain regions based on fNIRS data was an important parameter for predicting language delay in preterm toddlers, among which the prosody discrimination reflected by the right angular gyrus (channel 4) was the most important parameter. The area under the model Receiver operating characteristic (ROC) curve was 0.687. CONCLUSIONS: Neural prosody discrimination ability is positively associated with language development, assessment of brain prosody discrimination abilities through fNIRS could be used as an objective indicator for early identification of children with language delay in the future clinical application.

Determinants of speech and language delay among children aged 12 months to 12 years at Yekatit 12 Hospital, Addis Ababa, Ethiopia: a case-control study.

BACKGROUND: Speech and language delay among children can result in social interaction problems, attention difficulties, decreased writing and reading abilities, and poor cognitive and behavioral development. Despite the mounting prevalence of speech and language delays in Ethiopia, there is a lack of literature addressing the factors contributing to this delay. Consequently, this study aims to identify determinants of speech and language delay among children aged 12 months to 12 years at Yekatit 12 Hospital in Addis Ababa, Ethiopia. METHODS: We conducted an institutional-based at Yekatit 12 Hospital, unmatched case-control study with 50 cases and 100 controls aged 12 months to 12 years. Interviewer-administered questionnaires were used to collect data from the parents or caregivers of the participating children. Epi Info v7 was used for sample calculation, and SPSS v26 was used for analysis. The chi-square test was performed to determine the relationship between speech and language delay and determining factors, which was then followed by logistic regression. The significant determining factors were identified based on the adjusted odds ratio (AOR), with a 95% CI and p-value (< 0.05). RESULTS: Case group constituted 23 males and 27 females, totaling 50 children. Upon completing the multivariate analysis, birth asphyxia [AOR = 4.58, 95CI (1.23-16.99)], bottle-feeding [AOR = 4.54, 95CI (1.29-16.04)], mother-child separation [AOR = 2.6, 95CI (1.05-6.43)], multilingual family [AOR = 2.31, 95CI (1.03-5.18)], and screen time greater than two hours [AOR = 3.06, 95CI (1.29-7.28)] were found to be statistically significant determinants of speech and language delay. CONCLUSIONS: Our study found that birth asphyxia, bottle-feeding, mother-child separation, being from a multilingual family, and excessive screen time contribute significantly to speech and language delay. As a result, it is important to develop interventions that target these modifiable factors, while also ensuring that early diagnosis and treatment options are readily accessible.

[Oral language development in maltreated and foster children]. / Le développement du langage oral chez les enfants maltraités et placés.

Language disorders, which are still very poorly detected, are often present in abused children. While the consequences are well known and long-lasting, little is known about the development and specific characteristics of these children, depending on where they were placed, the type of abuse they suffered and the age at which they were placed. This finding led to a review of the literature aimed at better defining the state of knowledge on the subject, for the benefit of better detection and treatment.

Sex differences in early language delay and in developmental language disorder.

Developmental language disorder (DLD) is a neurodevelopmental condition, occurring in about 3% to 7% of preschoolers, that can impair communication and negatively impact educational and social attainments, in spite of adequate neurological, cognitive, emotional, social development, and educational opportunities for language learning. Significant risk factors for DLD are male sex, familial history of early language delay, low parental education, and various perinatal factors. A strong sex effect with a higher prevalence of language delay and DLD in males than in females has been consistently reported. Neurobiological and environmental risk factors, interacting with each other, are probably responsible for the phenotypic expression of DLD. The aim of this brief review is to further the knowledge of the role of sex in early language delay and DLD by analyzing the evidence from four significant sources: epidemiological studies, studies on twins, family aggregation studies, and studies on sex chromosome trisomies. Data pertaining only to sex differences (biological and physiological characteristics of females and males) will be analyzed. Studies on family aggregations and twins confirm the role of genetic factors and of sex in determining language abilities and disabilities, but genes alone do not determine outcomes. Sex chromosome trisomies represent a unique example of the relationship between a genetic alteration and a language disorder. Clarification of how sex acts in determining DLD could provide new information on early risk factors and, thus, contribute to improve diagnosis and clinical management.

Vocabulary and automatic attention: The relation between novel words and gaze dynamics in noun generalization.

Words direct visual attention in infants, children, and adults, presumably by activating representations of referents that then direct attention to matching stimuli in the visual scene. Novel, unknown, words have also been shown to direct attention, likely via the activation of more general representations of naming events. To examine the critical issue of how novel words and visual attention interact to support word learning we coded frame-by-frame the gaze of 17- to 31-month-old children (n = 66, 38 females) while generalizing novel nouns. We replicate prior findings of more attention to shape when generalizing novel nouns, and a relation to vocabulary development. However, we also find that following a naming event, children who produce fewer nouns take longer to look at the objects they eventually select and make more transitions between objects before making a generalization decision. Children who produce more nouns look to the objects they eventually select more quickly following the naming event and make fewer looking transitions. We discuss these findings in the context of prior proposals regarding children's few-shot category learning, and a developmental cascade of multiple perceptual, cognitive, and word-learning processes that may operate in cases of both typical development and language delay. RESEARCH HIGHLIGHTS: Examined how novel words guide visual attention by coding frame-by-frame where children look when asked to generalize novel names. Gaze patterns differed with vocabulary size: children with smaller vocabularies attended to generalization targets more slowly and did more comparison than those with larger vocabularies. Demonstrates a relationship between vocabulary size and attention to object properties during naming. This work has implications for looking-based tests of early cognition, and our understanding of children's few-shot category learning.

The development and productivity of a measure for identifying low language abilities in children aged 24-36 months.

BACKGROUND: Accurate early identification of children with low language ability is important but existing measures generally have low sensitivity. This remains an area of concern for preventive and public health services. This study aimed to create and evaluate a measure of child language, communication and related risks which can be used by community health nurses to accurately identify children with low language aged 24-30 months. METHODS: The Early Language Identification Measure (ELIM) was developed and comprised five measurement sections, each measuring different aspects of development combined into a single measure. This was tested blind against a reference standard language measure, the Preschool Language Scale-5 (PLS-5), at the universal 24-30-month health visitor review in England. The threshold for likely low language was the tenth centile or below on the PLS-5. The aim was to ascertain the performance of the five individual sections in the scale, and consider the optimum combination of sections, for predicting low language ability. Specificity, sensitivity, and positive and negative predictive values were reported for each of the five sections of the ELIM alone and in conjunction with each other. The performance for children from monolingual English-speaking families and those who spoke languages other than English were also considered separately. RESULTS: Three hundred and seventy-six children were assessed on both the ELIM identification measure and the PLS-5 with 362 providing complete data. While each section of the ELIM predicted low language ability, the optimal combination for predicting language outcome was the parent reported vocabulary checklist coupled with the practitioner observation of the child's communication and related behaviours. This gave a sensitivity of 0·98 with a specificity of 0·63. CONCLUSIONS: A novel measure has been developed which accurately identifies children at risk of low language, allowing clinicians to target resources efficiently and intervene early.

Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study.

BACKGROUND: Early childhood life is critical for optimal development and is the foundation of future well-being. Genetic, sociocultural, and environmental factors are important determinants of child development. AIM: The objectives were to screen for suspected developmental delays (DDs) among Egyptian preschool children, and to explore the determinants of these delays based on sociodemographic, epidemiological, maternal, and child perinatal risk factors. METHODS: A national Egyptian cross-sectional developmental screening of a representative sample of preschool children (21,316 children) aged 12 to 71 months. The Revised Denver Prescreening Developmental Questionnaire (R-PDQ) followed by the Denver Developmental Screening Test, 2nd edition (DDST) was used. RESULTS: Each screened child manifested at least one of six developmental categories. Either typical development, gross motor delay (GM), fine motor adaptive delay (FMA), Language delay (L), Personal-social delay (PS), or multiple DDs. The prevalence of preschool children with at least one DD was 6.4%, while 4.5% had multiple DDs. Developmental language delay was the most prevalent, affecting 4.2% of children. The least affected domain was GM (1.9% of children). Boys were more likely to have DD than girls. Children in urban communities were more likely to have at least one DD than those in rural areas (OR = 1.28, 95%CI: 1.14-1.42), and children of middle social class than of low or high social class (OR = 1.49, 95%CI: 1.30-1.70 & OR = 1.40, 95%CI: 1.23-1.59 respectively). The strong perinatal predictors for at least one DD were children with a history of postnatal convulsions (OR = 2.68, 95%CI: 1.97-3.64), low birth weight (OR = 2.06, 95%CI: 1.69-2.52), or history of postnatal cyanosis (OR = 1.77, 95%CI: 1.26-2.49) and mothers had any health problem during pregnancy (OR = 1.73, 95%CI: 1.44-2.07). Higher paternal and maternal education decreased the odds of having any DD by 43% (OR = 0.57, 95% CI: 0.47-0.68) and 31% (OR = 0.69, 95%CI: 0.58-0.82) respectively. CONCLUSION: This study demonstrates a considerable attempt to assess the types and the prevalence of DD among preschool children in Egypt. Perinatal factors are among the most common determinants of DD in preschool children and the majority could be preventable risk factors.

The characteristics of spontaneous language in young children identified as language delayed in Mandarin.

BACKGROUND: Little is known about the spontaneous speech characteristics of young children with language delay in Mandarin, relative to their peers. Until the recent development of standardized language assessments normed in China on Mandarin-speaking children, it was difficult to independently identify atypically developing children to study their spontaneous speech, and only case studies have been available. AIM: To investigate which aspects of spontaneous speech might be distinctive for atypical development in a short play session. METHODS & PROCEDURES: A total of 86 Mandarin-speaking children, boys and girls aged 2;6-4;6, were tested using the new standardized assessment for Mandarin, Diagnostic Receptive Expressive Assessment of Mandarin-Comprehensive (DREAM-C), at a major urban hospital in China. Of the children, 39 were identified by DREAM-C as atypically developing in language development (Total Standard score M = 72, SD = 8.9), and 47 scored in the typical range (Total Standard score M = 103, SD = 10.8), using the four scales of Receptive, Expressive Semantics and Syntax. All children then took part in a 15-min semi-structured play session during which their spontaneous speech was recorded by professionals. A variety of games and pictures were used in an attempt to elicit spontaneous questions, negatives and descriptions. Their recorded speech samples were then coded by linguists directly into a database in FilemakerPro for different aspects of vocabulary, sentence variety and grammatical morphemes/structures heard. OUTCOMES & RESULTS: The results describe the characteristics of the speech samples for the typical and atypical groups for age groups 2;6-3.5 (N = 52) and 3;6-4.6 (N = 34). Vocabulary diversity was indicated on an ordinal scale ranging from simple communicative signals including headshakes and words such as 'hi' to 'a rich variety of different content words'. Grammatical diversity similarly ranged from 'only yes/no answers', through to the appearance of multi-clause sentences. Morphosyntax was coded in terms of which morphemes were observed at all in the session, such as aspect markers (LE, ZAI, GUO), and nominal morphemes (DE, GE), and also whether function words such as pronouns, Wh-questions and classifiers were singular or varied in the session. There is considerable optionality in morpheme expression in Mandarin, so measurements such as the percentage supplied in obligatory contexts, though useful for languages such as English, are harder to compute. Nevertheless, the data show change over age in all these aspects of language, and reveal what a typically developing child might be expected to produce in a 15-min sample in such a session. For example, it was rare for the typically developing children by age 3.5 not to have at least simple sentences with some function words, and to use adjectives, nouns and verbs, unlike the children with atypical scores. The morphemes DE, LE and GUO showed significant differences in likelihood across groups for both ages, but BA and ZAI were significantly different only for the older age group. In contrast, GE was common in all groups. The atypical group has markedly lower frequency in several grammatical aspects such as the use of diverse questions, classifiers and pronouns, with much less change across age groups, implying slower growth. The results provide useful information on the relative likelihood of observing different varieties of words, sentence types and morphemes in a short speech sample, which are substantially different in the typical versus atypical groups in both age bands, and change over age. CONCLUSIONS & IMPLICATIONS: These data validate the DREAM-C classifications, but the details can also be used to inform the choice of targets for intervention for young children who experience delays in Mandarin language acquisition. WHAT THIS PAPER ADDS: What is already known on the subject Spontaneous language samples have been used as a means of studying language in China. However, because of the amount of training and time required to transcribe and analyse spontaneous language samples, there is not yet a sufficient basis for identifying language differences between children with and without language disorder in mainland China. What does this paper add to existing knowledge After using DREAM-C to provide an objective measurement of children with and without language disorders, an easy-to-administer spontaneous language assessment protocol and scoring record form allowed the comparison of the spontaneous language of 39 children with atypically developing language with 47 children who scored in the typical range to observe language differences between those with and without typical language development. What are the potential or actual clinical implications of this work? The study documents differences in vocabulary and sentence variety, and use of different morphemes such as classifiers, passives and aspect markers to aid in choosing targets for intervention by demonstrating the path of development. In addition, the spontaneous language assessment protocol and scoring record form holds promise for allowing clinicians and researchers to more easily study the language of individual children to personalize intervention, but also of groups of children to understand the emergence of basic Mandarin linguistic features.

The development of a parent report instrument of early communication and language skills of infants and toddlers in mainland China.

OBJECTIVE: This study was designed to produce a new parent-report measure, the Diagnostic Receptive Expressive Assessment of Mandarin-Infant Toddler Assessment of Communication and Language (DREAM-IT) in order to provide norms for the developmental skills of children aged 0-36 months in four areas: expressive language, receptive language, cognitive play and social skills. METHODOLOGY: The scale was designed to be both broader and deeper than existing instruments that neglect one or more of these significant domains involved in early language. Items were chosen by a group of specialists with clinical experience working with the age group and with attention to the developmental literature. Caregivers were tested individually by a trained person who asked the questions and provided examples. In addition to an extensive health questionnaire, caregivers answered questions in Mandarin about their child's behaviour using a scale of 'not yet', 'sometimes' or 'always' or listing out words and/or sounds understood or said by the child. The 476 participating caregivers were recruited at maternal and child healthcare clinics centred in Chengdu, China, 191 of whom were tested a second time seven months later. The children were sampled in three-month age-bands from 0 to 36 months. The sample was balanced for child gender by age band, and parental education was balanced. Caregivers of 0-24-month-old children and caregivers of 12-36 months were each asked a different set of questions, to determine the appropriate age range and cutoff points for each question, requiring the sample size to be doubled for children aged 12-24 months. RESULTS: The results were subject to item-response theory analysis to remove outlying items, and the resulting internal reliability was high for each domain (average Cronbach's alpha=0.87). The final instrument (between 67 and 113 questions in total) was refined to include the least redundant questions that had the highest intercorrelations, with attention paid to coverage of all domains across the age range. Two scales were developed: one for children 0-18 months, the second for children aged 18-36 months. The longitudinal design permitted the creation of growth curves and norms for each domain for six-month intervals from 0 to 36 months. A small sample of 32 parents of children with Down syndrome aged 18-36 months provided validation that the scales are highly sensitive to developmental delay. CONCLUSION: The instrument shows considerable promise for detecting early communication problems in children in China. WHAT THIS PAPER ADDS: What is already known on the subject In China, efforts were made in recent years to develop language assessments for infants and toddlers, but limitations existed with the domains included and number of items included per age group. Many clinical practitioners also continued to rely on language subtests of general developmental scales, which were limited in depth and breadth of language skills tested and were never intended for diagnosis of language delay. What this paper adds to existing knowledge This paper discusses the development of a valid caregiver report instrument for early communication and language skills of infants and toddlers in mainland China. The Diagnostic Receptive Expressive Assessment of Mandarin-Infant Toddler (DREAM-IT) includes foundational domains necessary for language and communication development in young children (receptive language, expressive language, cognitive play and social communication domains). The results show strong internal reliability (Cronbach's alpha) for each domain on a sample of 716 children sampled in three-month age bands from 0 to 36 months. The external validity proved strong when tested on a group of 32 young children with Down syndrome. What are the potential or actual clinical implications of this work? Besides helping to inform the diagnosis of language delays in infants and toddlers in China, the caregiver report instrument has special features to support clinical practitioners in a field that is just emerging in China. The unique support features include the automatic generation of a profile of relative strengths and weaknesses of the child on the report and the recommendation of child-specific caregiver coaching videos on a companion app.

High-Risk Neighborhoods and Neurodevelopmental Outcomes in Infants Born Preterm.

OBJECTIVE: To study the association between neighborhood risk and moderate to severe neurodevelopmental impairment (NDI) at 22-26 months corrected age in children born at <34 weeks of gestation. We hypothesized that infants born preterm living in high-risk neighborhoods would have a greater risk of NDI and cognitive, motor, and language delays. STUDY DESIGN: We studied a retrospective cohort of 1291 infants born preterm between 2005 and 2016, excluding infants with congenital anomalies. NDI was defined as any one of the following: a Bayley Scales of Infant and Toddler Development-III Cognitive or Motor composite score <85, bilateral blindness, bilateral hearing impairment, or moderate-severe cerebral palsy. Maternal addresses were geocoded to identify census block groups and create high-risk versus low-risk neighborhood groups. Bivariate and regression analyses were run to assess the impact of neighborhood risk on outcomes. RESULTS: Infants from high-risk (n = 538; 42%) and low-risk (n = 753; 58%) neighborhoods were compared. In bivariate analyses, the risk of NDI and cognitive, motor, and language delays was greater in high-risk neighborhoods. In adjusted regression models, the risks of NDI (OR, 1.43; 95% CI, 1.04-1.98), cognitive delay (OR, 1.62; 95% CI, 1.15-2.28), and language delay (OR, 1.58; 95% CI, 1.15-2.16) were greater in high-risk neighborhoods. Breast milk at discharge was more common in low-risk neighborhoods and was protective of NDI in regression analysis. CONCLUSIONS: High neighborhood risk provides an independent contribution to preterm adverse NDI, cognitive, and language outcomes. In addition, breast milk at discharge was protective. Knowledge of neighborhood risk may inform the targeted implementation of programs for socially disadvantaged infants.

Parent-recorded videos of infant spontaneous movement: Comparisons at 3-4 months and relationships with 2-year developmental outcomes in extremely preterm, extremely low birthweight and term-born infants.

BACKGROUND: Infants born extremely preterm (EP, <28-week gestational age) or extremely low birthweight (ELBW, <1000 g) are at risk of developmental delay and cerebral palsy (CP). The General Movements Assessment (GMA) and its extension, the Motor Optimality Score, revised (MOS-R) (assesses movement patterns and posture), may help to identify early delays. OBJECTIVES: To compare differences in the MOS-R scored from parent-recorded videos between infants born EP/ELBW and term-born infants, to determine relationships between the MOS-R and 2-year cognitive, language and motor outcomes and if any relationships differ between birth groups and the association of the GMA (fidgety) with CP. METHODS: A geographical cohort (EP/ELBW and term-control infants) was assessed using the MOS-R inclusive of the GMA at 3- to 4-month corrected age (CA), and the Bayley Scales of Infant and Toddler Development, 3rd edition (Bayley-III) at 2-year CA. Differences in mean total MOS-R between groups, relationships between MOS-R and 2-year outcomes and relationships between GMA (fidgety) and CP in infants born EP/ELBW were estimated using linear/logistic regression. RESULTS: Three hundred and twelve infants (147 EP/ELBW; 165 term) had complete MOS-R and Bayley-III assessments. Mean MOS-R was lower in infants born EP/ELBW than controls (mean difference -3.2, 95% confidence interval [CI] -4.2, -2.3). MOS-R was positively related to cognitive (ß [regression coefficient] = 0.71, 95% CI 0.27, 1.15), language (ß = 0.96, 95% CI 0.38, 1.54) and motor outcomes (ß = .89, 95% CI 0.45, 1.34). There was little evidence for interaction effects between birth groups for any outcome. Absent/abnormal fidgety movements were related to CP in children born EP/ELBW (risk ratio 5.91, 95% CI 1.48, 23.7). CONCLUSIONS: Infants born EP/ELBW have lower MOS-R than infants born at term. A higher MOS-R is related to better outcomes for 2-year development, with similar relationships in both birth groups. Absent/abnormal fidgety movements are related to CP in EP/ELBW survivors.

Development and norming of the Hungarian CDI-III: A screening tool for language delay.

BACKGROUND: Difficulties in language development are related to social and emotional problems, lower academic outcomes, and lower quality of life from childhood to adolescence. These grave consequences might be significantly reduced by timely identification and professional support. The introduction of systematic screening for language delay (LD) in 3-year-old children in Hungary was based on the recent adaptation of the MacArthur-Bates CDI-III (HCDI-III). AIMS: To explore the relevant psychometric properties of the HCDI-III; to identify factors characteristic of the families and children influencing language development at the age group under investigation; and to evaluate the adequacy of the tool for the purpose of screening LD in kindergarten at the age of 3 years. METHODS & PROCEDURES: The norming study of the HCDI-III was conducted in a collaborative research project with the Metropolitan Pedagogical Services in Budapest. HCDI-III parent report forms along with a demographic survey form were distributed to parents of all Hungarian-speaking children between the ages of 2;0 and 4;2 without special education needs. The normative sample comprised data from 1424 children aged 2;0-4;2 with 51.1% boys and 48.9% girls. The data set contained information including language skills, basic demographics, birth conditions, health issues and socio-economic status (SES). OUTCOMES & RESULTS: In the HCDI-III form, six outcome variables were created to cover the domains of expressive vocabulary, morphosyntax and language use. Statistical analyses revealed appropriate psychometric properties of five outcome variables that showed a normal distribution and were strongly correlated to age. Outcomes of girls were slightly (but significantly) higher on scales corresponding to vocabulary, syntax, language use and productivity. Most variables were highly correlated with one another even with age partialled out. Multiple regression analyses revealed significant effect of age, gender and parental education on all main outcome variables. Neither one of the other eight predictors, including familial and birth-related factors, affected linguistic outcomes in our sample. CONCLUSIONS & IMPLICATIONS: The results are consistent with the majority of Communicative Development Inventory (CDI) studies, and support the psychometric eligibility of the instrument for screening purposes between 30 and 50 months. As certain regions of Hungary are characterised by a high prevalence of low-SES families, more research is needed to adapt the screening procedure and subsequent measures to their needs. WHAT THIS PAPER ADDS: What is already known on the subject Difficulties in language development are related to lower social and academic outcomes and lower quality of life from childhood to adolescence. These grave consequences might be significantly reduced by timely identification and professional support. Structured parent report forms such as the MacArthur-Bates CDI are widely accepted methods for screening children with LD. What this paper adds to existing knowledge This study reports the Hungarian adaptation and norming of the CDI-III form. Statistical analyses revealed appropriate psychometric properties of most of its sections. Language outcomes were affected by age, gender and parental education on all main outcome variables in children between 2 and 4 years of age. What are the potential or actual clinical implications of this work? The results support the psychometric eligibility of the HCDI-III instrument for screening purposes. The introduction of the screening procedure in clinical practice is expected to improve early support of children with language difficulties and reduce risks of developmental problems related to language disorders.

Association of sibling presence with language development before early school age among children with developmental delays: A longitudinal study.

BACKGROUND/PURPOSE: Having siblings is a crucial ecological factor in children's language development. Whether siblings play a role in the language development of children with developmental delays remains unknown. This study therefore aimed to assess the association between sibling presence and changes in language trajectories of children with developmental delays before reaching early school age. METHODS: This retrospective cohort-sequential longitudinal study analyzed data from an institution designated by Taiwan's Ministry of Health and Welfare for assessing and identifying young children with developmental delays between December 2008 and February 2016. We included 174 children, aged 10-58 months (mean [standard deviation (SD)], 31.74 [10.15] months), with developmental delays who underwent at least three waves of evaluation. The final evaluation occurred at 37-90 months of age. Data collection spanned over an age from 10 to 90 months. The primary outcome was language delays as determined by board-certified speech-language pathologists. RESULTS: Of the 174 participants (131 boys), 64.94 % (n = 113) had siblings. The likelihood of both receptive language delay and expressive language delay for participants with siblings increased gradually from 10 to 90 months and exceeded that of participants without siblings, respectively (adjusted odds ratios [aOR], 1.04, 1.04; 95 % confidence interval [CI], 1.01-1.07, 1.01-1.07; P = 0.014, 0.020). CONCLUSION: Having siblings does not necessarily positively associate with language development in children with developmental delays. Clinicians should consider the association of sibling presence with language development for these children in a broader familial-ecological context before they reach early school age.

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi-allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals are developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation, and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI-anchored protein (GPI-AP), was found to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range toward the severe end of the spectrum with the identification of a novel pathogenic variant.

Preterm birth and risk for language delays before school entry: A sibling-control study.

We investigated whether children born preterm are at risk for language delay using a sibling-control design in the Norwegian Mother and Child Cohort Study (MoBa), conducted by the Norwegian Institute of Public Health. Participants included 26,769 siblings born between gestational weeks 23 and 42. Language delay was assessed when the children were 1.5, 3, and 5 years old. To adjust for familial risk factors, comparisons were conducted between preterm and full-term siblings. Pregnancy-specific risk factors were controlled for by means of observed variables. Findings showed that preterm children born before week 37 had increased risk for language delays at 1.5 years. At 3 and 5 years, only children born before week 34 had increased risk for language delay. Children born weeks 29-33 and before week 29 had increased risk for language delay at 1.5 years (RR = 4.51, 95% CI [3.45, 5.88]; RR = 10.32, 95% CI [6.7, 15.80]), 3 years (RR = 1.50, 95% CI [1.02, 2.21]; RR = 2.78, 95% CI [1.09, 7.07]), and 5 years (RR = 1.63, 95% CI [1.06, 2.51]; RR = 2.98, 95% CI [0.87, 10.26]), respectively. In conclusion, children born preterm are at risk for language delays, with familial confounders only explaining a moderate share of the association. This suggests a cause-effect relationship between early preterm birth and risk for language delay in preschool children.

Screening for language and speech delay in children under five years.

We looked at existing recommendations and supporting evidence on the effectiveness of universal screening for language and speech delay in children under 5 years of age for short- and long-term outcomes.We conducted a literature search up to the 20th of November 2019 by using key terms and manual search in selected sources. We summarized the recommendations and the strength of the recommendation when and as reported by the authors. We summarized the main findings of systematic reviews with the certainty of the evidence as reported on the accuracy of the screening tests for detecting language and speech delay, the efficacy of existing interventions for children with language and speech delay, and the potential harms associated with screening and the associated interventions.Several screening tools are used to assess language and speech delay with a wide variation in their accuracy. Targeted interventions improve some measures of speech and language delay and disorders. However, there is no evidence on the effectiveness of such interventions in children detected by screening with no specific concerns about their speech or language before screening. There is no evidence assessing whether universal screening for language and speech delay in a primary care setting improves short and long-term outcomes (including speech and language outcomes and other outcomes). Finally, there is no evidence on the harms of screening for language and speech delay in primary care settings, and there is limited evidence assessing the potential harms of interventions.

The Dutch well child language screening protocol for 2-year-old children was valid for detecting current and later language problems.

AIM: A little is known about predictive validity of and professionals' adherence to language screening protocols. This study assessed the concurrent and predictive validity of the Dutch well child language screening protocol for 2-year-old children and the effects of protocol deviations by professionals. METHODS: A prospective cohort study of 124 children recruited and tested between October 2013 and December 2015. Children were recruited from four well child clinics in urban and rural areas. To validate the screening, we assessed children's language ability with standardised language tests following the 2-year screening and 1 year later. We assessed the concurrent and predictive validity of the screening and of protocol deviations. RESULTS: At 2 years, the sensitivity and specificity of the language screening were 0.79 and 0.86, and at 3 years 0.82 and 0.74, respectively. Protocol deviations by professionals were rare (7%) and did not significantly affect the validity of the screening. CONCLUSION: The language screening protocol was valid for detecting current and later language problems. Deviations from the protocol by professionals were rare and did not affect the concurrent nor predictive validity of the protocol. The 2-year language screening supports professionals working in preventive child health care and deserves wider implementation in well child care.

Communicative Environmental Factors Including Maternal Depression and Media Usage Patterns on Early Language Development.

INTRODUCTION: From the ecological perspective of multifactorial causal mechanism, the communicative interaction environment has been less studied in early childhood which is the most sensitive phase for language development. We aimed to research simultaneous communicative environmental factors including maternal depression and media usage patterns in young children aged 1-31/2 years. METHODS: One hundred and one participants were included in the study; fifty-one children with language delay as the case group and fifty children with typical development as the control group. Maternal depressive symptoms were evaluated by Beck Depression Inventory. The general development of each child was evaluated by Denver II Screening Test and Bayley-Third Edition. Language development was evaluated by the Preschool Language Scale-5. The questionnaire for the sociodemographic data and media usage patterns was prepared by the study team. RESULTS: Maternal depression scores, duration of TV viewing, background TV were higher in the children with language delay and they started earlier using screen devices in comparison with the control group (p < 0.05). The total amount of interaction time and co-viewing were less in children with language delay and more parents intended to keep their children occupied by watching in the case group (p < 0.05). Mother care-giving (p = 0.002, OR = 5.80, CI 1.93-17.4) and absence of co-viewing (p = 0.000, OR = 9.46, CI 2.69-33.3) were the significant factors associated with language delay. DISCUSSION: Young children with language delay were more exposed to communicative environmental risk factors than children with typical development. The integration of this perspective to child health care practices should be encouraged in early childhood.

Exploring Agreement between MB-CDI Short Forms for Evaluating the Language Skills of Italian Children Aged 18-24 Months.

INTRODUCTION: The short forms of MacArthur-Bates Communicative Development Inventories (MB-CDI) are widely used for assessing communicative and linguistic development in infants and toddlers. Italian norms for the Words and Gestures (WG) and Words and Sentences (WS) short forms overlap between 18 and 24 months. OBJECTIVE: To evaluate the agreement between these two forms. METHODS: Parents of 104 children aged 18-24 months filled in both questionnaires. RESULTS: The two questionnaires showed high agreement in measuring expressive vocabulary size and the percentile of lexical production and good agreement in identifying children at-risk for language delay (75% of the cases were accurately identified). Both short forms include a list of 100 words and a set of questions investigating potential risk factors for communication and language disorders. Ten children with an expressive vocabulary <10th percentile were compared to 10 with typical language development. Scores for children <10th percentile were significantly lower than their peers, in addition to scores of lexical comprehension, gesture-word, and 2-word combinations, and phonological accuracy, imitation of new words, and decontextualized use of language. CONCLUSIONS: Short forms of the Italian MB-CDI can be used interchangeably for evaluating lexical production, but each one offers different quantitative and qualitative information on the behaviours related to language acquisition.