Low language proficiency (LLP) affects up to 10% of children, depending on how it is defined, and is a known risk factor for academic and social difficulties. Despite growing awareness, there is limited consensus on the long-term consequences of LLP across quality of life domains. This review synthesises evidence from longitudinal cohort studies to evaluate long-term risks associated with LLP identified between ages four and eight, with follow-up from age 12 onwards. To examine the long-term outcomes of children aged four to eight years with low language proficiency (LLP), in terms of language, literacy, and quality of life across five WHO domains (physical, psychological, independence, social relationships, and environment). CENTRAL, MEDLINE, Embase, PsycINFO, ERIC, and 17 other databases were searched without language or date restrictions. In addition, reference lists were checked, citation searching was conducted, and study authors were contacted to identify additional studies. The most recent search was completed in March 2025. We included prospective or retrospective longitudinal cohort studies that identified children with LLP between ages four and eight years and assessed outcomes at age 12 or older. Studies could include comparison groups or single-cohort designs. LLP was defined either using standardised diagnostic criteria (≤ -1 SD on normed language measures, encompassing ~10-15% of the population) or clinical judgement by qualified professionals. We extracted data on language, literacy, and World Health Organization (WHO) quality of life domains and used robust variance estimation (RVE) meta-analysis models, including hierarchical and correlated effects models. Effect sizes were reported as Hedges' g or risk ratios (RR), with Grading of Recommendations, Assessment, Development and Evaluation (GRADE) applied to each outcome domain. We conducted sensitivity and moderator analyses and assessed small-study effects. We included 80 studies; 72 contributed to meta-analyses across 15 independent cohorts (≈ 28,828 participants). Studies were published between 1982 and 2024 and conducted in Europe and North America. Risk of bias, assessed across study participation, attrition, and outcome measurement, varied; only three studies were at low risk across all assessed domains, with study attrition most frequently rated as moderate or high. Language outcomes showed large adverse associations in long-term follow-up (145 effect sizes; 11 cohorts; Hedges' g = -1.36, 95% Confidence Interval (CI) -1.80 to -0.92; moderate certainty). Literacy outcomes were similarly affected (86 effect sizes; 7 cohorts; g = -1.12, 95% CI -1.28 to -0.96; high certainty). Physical outcomes were reported in only one study and could not be meta-analysed; evidence was insufficient to draw conclusions. Psychological outcomes showed moderate adverse associations (91 effect sizes; 7 cohorts; g = -0.50, 95% CI -0.80 to -0.19; moderate certainty), with risk ratio analyses indicating lower probability of favourable psychological outcomes (RR = 0.53, 95% CI 0.42 to 0.67). Independence outcomes showed smaller and more uncertain associations (17 effect sizes; 2 cohorts; g = -0.59, 95% CI -1.35 to 0.18; low certainty). Social relationship outcomes showed moderate adverse associations (35 effect sizes; 6 cohorts; g = -0.64, 95% CI -1.35 to 0.07; moderate certainty). Environmental outcomes showed large but imprecise adverse associations (23 effect sizes; 5 cohorts; g = -1.10, 95% CI -1.47 to -0.73; moderate certainty). Across domains, sensitivity analyses supported the robustness of findings, although degrees of freedom were often low due to the limited number of independent cohorts. Where binary outcome data were available, risk ratio estimates were directionally consistent with continuous outcomes but frequently imprecise. Early low language proficiency (LLP) is consistently associated with substantial long-term language and literacy difficulties. LLP is also associated with poorer psychological well-being and social relationship outcomes later in life, with moderate certainty of evidence. Associations with independence outcomes are smaller and more uncertain, reflecting limited data and low certainty. Environmental outcomes, including education, employment, and societal participation, show large adverse associations, although estimates are imprecise due to the small number of contributing cohorts. Physical health outcomes remain under-researched. Taken together, these findings indicate that childhood LLP is not a transient delay but a marker of enduring developmental vulnerability, underscoring the need for sustained identification and support across developmental stages. Further high-quality longitudinal studies are needed, particularly in under-represented outcome domains. Internal sources Department of Special Needs Education, University of Oslo, Norway, supported the preparation of the protocol and review to be carried out during office hours for ÅMH, KR, and MM-L. Department of Education, University of Oslo, Norway, supported the preparation of the protocol and review to be carried out during office hours for AL. External sources The Research Council of Norway, Norway This review is part of the project, Better Equipped, which is funded by the Research Council of Norway, Grant 324207. Lervåg and Melby-Lervågs participation was founded by The Research Council of Norway, Centres of Excellence, Grant 331640. The funder had no role in the study design, conduct, methods, data analysis, reporting, or publication of this protocol for the review. https://discovery.ucl.ac.uk/id/eprint/10165057/1/Hagen_et_al-2023-Cochrane_Database_of_Systematic_Reviews.pdf.
Treating obesity in children and adolescents is complex, given the dynamic nature of growth and development during this life stage. The role of pharmacological treatments in the management of pediatric obesity remains uncertain, particularly with respect to outcomes beyond weight reduction, including quality of life and long-term adverse events. To assess the benefits and harms of pharmacological interventions for the treatment of obesity in children and adolescents. We searched CENTRAL, MEDLINE, the World Health Organization (WHO) International Clinical Trials Registry Platform, and ClinicalTrials.gov on 3 July 2023 without language restrictions. In June 2025, we checked the status of ongoing studies and updated results accordingly. We included randomized controlled trials (RCTs) evaluating pharmacological interventions in children (0 to 9 years) and adolescents (10 to 19 years) with essential obesity. Eligible studies administered any medication, at any dose, as monotherapy or in combination, for at least three months and reported outcomes after a minimum follow-up of six months. Critical outcomes were change in body mass index (BMI), change in weight, any adverse events, discontinuation due to adverse events, and incidence or severity of obesity-related outcomes. Important outcomes were health-related quality of life, mental and physical well-being, and obesity-related disability. We used the RoB 2 tool to assess bias in the included RCTs. We calculated mean differences (MDs) and standardized mean differences (SMDs) for continuous outcomes and risk ratios (RRs) for dichotomous outcomes, with their corresponding 95% confidence intervals (CIs). We used GRADE to assess the certainty of evidence for critical outcomes and quality of life. We included 37 RCTs with a total of 4218 participants. Two were cross-over trials; 35 were parallel-group trials. We identified seven ongoing studies and six studies as awaiting classification. Of the included studies, 25 involved adolescents only. Eleven studies planned to include both children and adolescents, but only eight actually did. One study intended to include children but did not specify participants' age at inclusion. Trials randomized participants to pharmacological interventions or control alongside common baseline treatments (e.g. behavioral or lifestyle approaches, diet, and physical activity). Of the 37 included studies, 31 used placebo and six used no intervention (baseline treatment alone) as the comparator. The studies were conducted across 17 high-income, six middle-income, and three low-income countries. Length of follow-up ranged from six to 31 months, with a median of 11 months. Pharmacological interventions versus placebo Compared to placebo, pharmacological interventions (glucagon-like peptide-1 [GLP-1] receptor agonists, metformin, orlistat, sibutramine, topiramate, phentermine plus topiramate) may reduce BMI (change from baseline) by 1.80 kg/m2 (95% CI -2.36 to -1.24; I2 = 87%; 25 studies, 3091 participants; low-certainty evidence) and weight (change from baseline) by 5.47 kg (95% CI -7.45 to -3.50; I2 = 89%; 20 studies, 2380 participants; low-certainty evidence). Adverse events were frequent. Pharmacological interventions (GLP-1 agonists, sibutramine, phentermine, topiramate) likely make little to no difference in the risk of any adverse events compared to placebo (RR 1.03, 95% CI 1.00 to 1.07; I2 = 0%; 8 studies, 1877 participants; moderate-certainty evidence). Pharmacological interventions (GLP-1 agonists, metformin, orlistat, sibutramine, phentermine, topiramate) may make little to no difference in the risk of discontinuation due to adverse events, although the risk was slightly higher with the medications (RR 1.50, 95% CI 0.82 to 2.75; I2 = 17%; 13 studies, 2213 participants; low-certainty evidence). One study (46 participants), comparing sibutramine to placebo, found that there may be little to no difference in the incidence of obesity-related outcomes for adolescents with comorbidities (assessed as changes in glycemia, blood pressure, total cholesterol, and triglycerides). We were unable to pool other data on incidence or severity of obesity-related outcomes. Compared to placebo, pharmacological interventions (GLP-1 agonists, phentermine plus topiramate) likely result in little to no difference in quality of life, assessed with the Impact of Weight on Quality of Life-Kids (IWQOL) questionnaire (MD 1.02, 95% CI -1.94 to 3.98; I2 = 48%; 4 studies, 741 participants; moderate-certainty evidence). Pharmacological interventions versus no intervention Compared to no intervention, metformin may reduce BMI (change from baseline) by 1.51 kg/m2 (95% CI -2.29 to -0.73; I2 = 0%; 3 studies, 151 participants) and weight (change from baseline) by 3.20 kg (95% CI -6.12 to -0.28; 1 study, 42 participants), but the evidence for both outcomes is very uncertain. Compared to no intervention, pharmacological interventions (metformin and orlistat) may increase the risk of discontinuations due to adverse events, but the evidence is very uncertain (RR 13.70, 95% CI 0.83 to 225.43; 2 studies, 84 participants). None of the studies comparing pharmacological interventions to no intervention reported data on adverse events, obesity-related outcomes, and quality of life that could be pooled in meta-analysis. Only eight of the 37 included studies enrolled children, and data were seldom disaggregated by age, limiting the ability to draw conclusions about benefits or harms in children. This review includes clinical trials assessing the benefits and harms of pharmacological treatments - including GLP-1 agonists, metformin, orlistat, phentermine, sibutramine, and topiramate - for weight management in adolescents with obesity. Evidence suggests that pharmacological treatments may result in small reductions in BMI and weight, which could be clinically important, although effects vary by medication. Evidence on desirable and undesirable effects in children is scant. Uncertainties remain about the optimal duration of treatment, consequences of treatment discontinuation, and long-term benefits and harms, particularly considering the physiology of children and impact on growth. Studies with longer follow-up are needed to evaluate outcomes beyond BMI and weight change, including the potential effects of treatment discontinuation. The Department of Nutrition and Food Safety at the WHO commissioned and provided financial support for this work. WHO acknowledges financial support from the Norwegian Agency for Development Cooperation (NORAD), the Swedish International Development Cooperation Agency (SIDA), the Government of the Grand Duchy of Luxembourg, the Government of Germany (BMG), and the Government of Greece to the WHO Department of Nutrition and Food Safety. Our protocol is registered in PROSPERO: www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023433123.
Communicating effectively in everyday life is a key outcome for children with speech, language and communication difficulties. However, we lack a clear way to describe children's everyday communication functioning-their communicative participation. Communicative participation is defined for adults, as 'taking part in life situations where knowledge, information, ideas, or feelings are exchanged', and included how communicative participation is achieved, with whom and for what purposes. This study aimed to consider communicative participation for children and young people, by using an existing definition regarding adults' communicative participation to elicit meaning from children and young people with speech, language and communication needs, and that of their parents and clinicians. Three focus groups with young people with speech, language, and communication needs (n = 6, ages 14-16 year old), parent carers (n = 5), and speech and language therapists (n = 19) and two semi-structured interviews, one with a parent of a young child with complex communication needs and one with a parent and their daughter with developmental language disorder, were conducted online, audio recorded and transcribed verbatim. Participants were shown an existing definition of communicative participation (originally intended to be applied to adults) and discussed the appropriateness of each section of the definition for children and young people. Transcripts were analysed following the Framework Analysis Approach. Participants broadly agreed with the existing definition but highlighted the changing nature of communicative participation throughout childhood. They thought that a definition of communicative participation should include interaction for joy, where closeness rather than meaning is shared, and reference to play and education as key communicative participation situations. Participants highlighted the importance of skilled partners in meaning making for children with developmental communication difficulties, and the fundamental role of technology in communicative participation. They also discussed the impacts of successful communicative participation on children's social and emotional development, seeing communicative participation as a driver to protect mental health and wellbeing, build independence, develop trusting relationships and stay safe. Communicative participation develops across childhood and differs to that in adulthood in some important respects. The broad boundaries of the construct provided in this study can inform further development of the construct with potential impact for developing assessments and interventions related to communicative participation for children. What is already known on this subject Communicative participation has been defined as 'taking part in life situations where knowledge, information, ideas, or feelings are exchanged' (Eadie et al. 2006, 311) and 'understanding and being understood in a social context, by applying verbal and nonverbal communication skills' (Singer et al. 2020, 1801) What this paper adds to the existing knowledge Communicative participation changes across childhood. It includes interaction for closeness, without a message being conveyed; play; education; and social and emotional development. Skilled interaction partners are vital for the development of communicative participation for children and young people with speech, language and communication needs (SLCN). The extended boundaries for communicative participation developed in this study can inform the development of new measurement tools. What are the potential or actual clinical implications of this work? Communicative participation is a prized outcome for children and young people with SLCN and their parents. Speech and language therapists should investigate children's communicative participation and intervention should be directed toward participation goals.
In the United Kingdom, cleft care is provided across 14 regional NHS cleft units. Although all units assess speech at age 3, no speech assessments have been designed specifically for 3-year-old children with cleft palate ± cleft lip (CP ± L). Existing speech samples for older children are often too complex for this age group, while generalised samples may contain an excessive number of nasal consonants, influencing listener judgements of resonance and nasal airflow. The lack of a standardised assessment for 3-year-olds prevents meaningful comparisons of speech outcomes across UK cleft units before age5. This paper describes the first stage in developing a valid and reliable speech assessment protocol for 3-year-old children with non-syndromic CP±L. This stage involved creating and piloting the West Midlands Assessment of Speech-Preschool (WAS-P) speech samples with 3-year-olds both with and without CP±L. The study aimed to: (1) design age-appropriate speech samples that assess speech parameters associated with CP±L, suitable for both routine clinical assessment and the evaluation of speech outcomes. (2) evaluate the completion rates and clinical usability of these speech samples, including the views of speech and language therapists (SLTs). Two English-language speech samples were developed, considering linguistic, lexical, and practical factors. Sample A combined spontaneous speech with single-word picture naming (59 words, including a cross-linguistic sample), while Sample B involved the repetition of 24 short sentences. The speech samples were piloted with 20 children with non-syndromic CP±L and five children without CP±L. Completion rates and completion times were recorded. Seven cleft-specialist SLTs analysed video recordings of the sessions and provided feedback on acceptability and usability. All children without CP±L completed both speech samples, compared to a 70% completion rate among children with CP±L. More children with CP±L attempted the single-word picture-naming task than the sentence-repetition task, even if they did not complete it fully. The duration of the sentence-repetition sample was completed in significantly less time than the spontaneous speech and single-word naming sample. SLTs reported that the 3-year-olds were generally well engaged and indicated that both samples would be suitable for clinical practice. The first stage of developing the WAS-P speech samples demonstrates the feasibility of standardising speech assessments for 3-year-old children in the UK. Both samples were considered appropriate for use with 3-year-old children with non-syndromic CP±L, balancing ease of administration with clinical usefulness. These speech samples have now been incorporated into a further research study to establish a standardised protocol for evaluating speech outcomes at age three in the UK. What is already known on this subject Although all UK NHS cleft units assess speech at age 3, there is no single standardised speech sample used, and no speech sample has been specifically designed for 3-year-olds with CP±L in the UK. The development of tailored speech samples for this population would facilitate cross-unit comparisons of speech outcomes in UK cleft units. What this paper adds to the existing knowledge This study introduces the West Midlands Assessment of Speech-Preschool (WAS-P), comprised of two newly developed speech samples specifically designed to assess speech in 3-year-olds with CP±L. It demonstrates the integration of existing speech samples-originally intended for cross-linguistic assessments-into these newly designed samples, thereby enhancing the capacity for speech outcome comparisons across different languages. Additionally, the study underscores the critical role of linguistic, lexical, and practical/pragmatic factors, alongside feedback from SLTs, in informing the development of effective speech samples for this age group. What are the potential or actual clinical implications of this work? The development and piloting of the WAS-P for 3-year-olds with CP±L offers a significant advancement in the standardisation of speech assessments across UK cleft units. These new speech samples could facilitate consistent speech assessments at age 3, enabling the comparison of speech outcomes across different clinical settings. Additionally, the inclusion of a restricted word list for cross-linguistic assessments opens the possibility for international comparisons of speech outcomes.
Given the globally increasing multilingual population and technological advances in language sample analysis, the study investigated the clinical utilisation of language sample analysis by speech-language pathologists practicing in South Africa. The current study explored South African speech-language pathologists' perspectives on language sample analysis (LSA) to offer further directions for research and clinical practice. Sixty-eight South African speech-language pathologists participated in this mixed-method survey design study. This study explored the perspectives on the use, barriers and enablers of LSA among users, as well as perspectives on LSA and alternative language assessment practices among non-users. Most participants used LSA as part of child language assessment protocols. The most notable barriers were time constraints and limited knowledge and expertise in using LSA as an assessment measure. Research and clinical practice should continue to explore the potential of technological advances to bridge barriers posed by the time-consuming nature of transcription and the analysis of language samples. Graduate training and curricula should continue to encourage the use of LSA and enable speech-language pathologists to use it as a clinical tool for the fair assessment and intervention of multilingual children. What is already known on this subject Language sample analysis is a widely recognised adjunct to the language assessment protocols for children; however, its clinical utilisation is low. What this paper adds to the existing knowledge The current study reports interesting findings indicating an upward trend in the clinical use of language sample analysis. What are the clinical implications of this study? The findings reiterate the use of a combination of elicitation methods for language sample analysis, especially in multilingual populations. It encourages clinicians to transcribe and analyse language samples to ensure valid assessment and encourages researchers to continue advancing technologies for these components of LSA to support the valid use of this method.
The aims of this study were to investigate whether children from different culturally and linguistically diverse (CALD) backgrounds in Australia have similar Health Related Quality of Life (HRQoL), in early childhood, middle childhood, and adolescence. We used data from 9099 children from the Longitudinal Study of Australian Children (LSAC), aged between 2 and 17 years, including HRQoL measured with the parent proxy Pediatric Quality of Life Inventory (PedsQL). The study pertained to cohort data from 2004 to 2018. CALD groups were defined according to child, mother's and father's country of birth and main language spoken at home. The association of child HRQoL with CALD group, was analysed using generalised estimating equations, adjusted for age, sex, socioeconomic position (SEP) and weight status. Children of Middle Eastern or North African, South-East Asian, South and Central Asian and Oceania backgrounds had significantly lower HRQoL (p < 0.05) than children from English speaking backgrounds. These disparities were greatest during middle childhood and adolescence and only partly explained by lower SEP and weight status. Disparities in physical HRQoL were greater than psychosocial HRQOL. Considerable inequity in HRQoL is present in Australian children from different CALD backgrounds. This study highlights the need for culturally tailored programs for school-aged children to improve their physical HRQoL. Health-related quality of life is an important measure of child overall health and includes physical and psychosocial health. There is evidence for lower quality of life in some culturally diverse populations, but no studies have examined this in children and adolescents. We used data from a very large Australian study that measured quality of life of children from age 2 to age 17 years and found lower quality of life among some cultural groups that developed primarily in middle childhood. Disparities in physical HRQoL were greater than psychosocial HRQOL. This highlights the need for culturally tailored programs for school-aged children to improve their physical HRQoL.
Language development in early childhood varies considerably, making early detection of Developmental Language Disorders (DLDs) challenging despite their high prevalence and long-term effects on learning and mental health. In Italy, no culturally adapted, easy-to-use screening tools are currently available in primary care. To address this gap, a screening tool was developed to support the early identification of children aged 24-72 months at risk of DLD and other clinically relevant language difficulties. To evaluate the psychometric properties and accuracy of the Comunicazione e Linguaggio in Ambulatorio Pediatrico (CLAP), a brief age-specific screening tool designed for use in Italian paediatric outpatient settings. In this pilot validation study, children were recruited by primary care paediatricians during routine well-child visits and stratified into four age groups: 24-30, 36-42, 48-54, and 60-72 months. After administration of the CLAP screening tool, each child underwent a blinded speech-language pathologist (SLP) assessment. Psychometric evaluation included internal consistency, item-total correlations, confirmatory factor analysis, and item response theory indices (discrimination and difficulty). Diagnostic accuracy was assessed using ROC curves, area under the curve (AUC), sensitivity, specificity, and optimal cut-offs. Analyses were conducted separately for each age group. Fifty children were enrolled in each age group; overall, 24% of the sample fell into the pathological subgroup after the blinded SLP assessment. Internal consistency was acceptable in the 24-30-month (KR-20 = 0.695) and 36-42-month (KR-20 = 0.777) groups, but lower in older children. Factor analyses supported a mainly unidimensional structure in the younger groups. Item response theory showed good discrimination and informativeness for several items. ROC analyses indicated excellent diagnostic accuracy in the 24-30-month group (AUC = 0.93; sensitivity = 92%; specificity = 87%), fair accuracy in the 36-42- and 48-54-month groups (AUC = 0.75 and 0.74), and poor performance in the 60-72-month group (AUC = 0.46). The CLAP demonstrates promising psychometric properties and good-to-fair accuracy as a brief screening tool for identifying children aged 24-54 months at risk of clinically relevant language difficulties, including those who may need further assessment for DLD. Its age-specific design, quick administration, and non-invasive nature support its potential integration into routine primary care. For older children, an age-specific revision or an alternative tool might be required. A larger validation study is currently in progress. What is already known on this subject Developmental Language Disorder (DLD) is common in early childhood; however, early identification remains difficult due to variable developmental pathways and the absence of validated screening tools in primary care. Currently, no brief, culturally adapted instrument is available for routine use in Italian paediatric settings. What does this study add to existing knowledge This study demonstrates that the CLAP tool has promising psychometric properties, with good accuracy in the youngest age group and fair accuracy up to 54 months for identifying children at risk of clinically relevant language difficulties, including those who may later meet criteria for DLD. It provides the first evidence supporting an age-specific, feasible screening option that can be integrated into Italian primary care, while also identifying areas requiring revision for older pre-schoolers. What are the potential or actual clinical implications of this work? CLAP can assist paediatricians in the early detection of clinically relevant language difficulties in children during routine well-child visits. Its adoption could help standardize early language screening in Italy, leading to earlier referral for further diagnostic assessment and appropriate speech-language evaluation.
Pediatric Obstructive Sleep Apnea (OSA) occurs during critical neurodevelopmental windows, often leading to deficits in attention and information processing. OSA is increasingly recognized as a condition associated with impaired language acquisition and highlights the necessity for early clinical language screening in this population. Thus, this study aimed to explore the impact of childhood OSA on language development in children aged 2 to 7.4 years. 41 native Arabic-speaking children diagnosed with OSA were evaluated. Assessments included clinical history, the Arabic Pediatric Sleep Questionnaire (A-PSQ), and physical examinations by Brodsky and Modified Mallampati scales. Diagnosis was confirmed via flexible nasopharyngoscopy, lateral neck radiography (A/N ratio), and polysomnography (AHI≥1). Language and cognitive profiling were conducted using the Stanford-Binet Intelligence Scale (5th ed.) and the Modified Preschool Language Scale-4 (Arabic version). Receptive language age demonstrated a strong negative correlation with AHI (r = -0.622, p < 0.001), while expressive and total language ages showed significant moderate negative correlations (r=-0.527 and -0.544, respectively; p<0.001). Linear regression identified the Brodsky scale, Mallampati classification, endoscopic adenoid grade, and A-PSQ domains as significant positive predictors of AHI. Conversely, endoscopic adenoid grade and Mallampati classification were significant negative predictors for all language domains, with the A-PSQ snoring domain specifically impacting expressive and total language ages. Significant correlations exist between anatomical obstruction, OSA severity, and language delay. Mallampati score, endoscopic grade, and A-PSQ snoring domain constitute a "High-Risk Triad" of OSA. The presence of this triad in children with language delay warrants immediate prioritization for intervention to mitigate long-term neurodevelopmental morbidity.
This study examined the role of language and executive functions (EFs) as potential mediators of the relation between family socioeconomic status (SES) and Theory of Mind (ToM) in preschool and school-aged children. A total of 375 children aged 3 to 7 years completed assessments of ToM (false beliefs task), language abilities (vocabulary, syntax, and novel word learning), and EFs (inhibition and cognitive flexibility). Family SES was measured based on parental education and occupational status. Structural equation modeling revealed that language mediated the SES-ToM association, whereas EFs did not significantly contribute to this relation when language abilities were considered. When accounting for potential ceiling effects of the language task, we found no evidence that age moderated the mediation effect of language on the association between SES and ToM. These findings underscore the pivotal role of language abilities in shaping social-cognitive development and highlight the importance of designing targeted interventions that use language-based materials to support ToM, particularly for children from low-SES backgrounds.
Severe combined immunodeficiency is an inherited condition arising from mutations in at least 19 known genes. Severe combined immunodeficiency can be identified through screening, family history or clinical presentation. Severe combined immunodeficiency is usually asymptomatic at birth and presents, in infancy, as recurrent and frequently severe infections. Without treatment, severe combined immunodeficiency is usually fatal in the first year of life. To summarise the available evidence relevant to newborn screening for severe combined immunodeficiency in the UK NHS newborn blood spot screening programme. Three research questions, concerning the accuracy of screening tests, the efficacy of early treatment and the acceptability of screening, were developed to address this objective. Eleven bibliographic databases were searched for relevant studies from 2011 to April 2024. Separate inclusion criteria were specified for each research question. Study selection, data extraction and assessment of methodological quality followed standard systematic review methods. A narrative synthesis of results is presented, structured by research question. No meta-analyses were conducted. Most positive predictive values, calculated from reports of newborn blood spot screening programme experience, were between 3.6% and 26%. Screening algorithms incorporating repeat sampling in preterm babies appeared to reduce false positives due to prematurity. However, the large number of other conditions that can give rise to a positive screening result mean that the positive predictive value for severe combined immunodeficiency remains consistently poor. Two small studies reported that early diagnosis of severe combined immunodeficiency, via newborn blood spot screening or family history and following the introduction of newborn blood spot screening, respectively, was associated with non-statistically significant improvements in post-transplant survival. A third study analysed data on n = 902 United States patients with severe combined immunodeficiency collected over a 28-year period and reported the results of multivariable Cox regression analyses, adjusted for demographic disease-related and transplant-related variables found to be significant on univariate analysis, showing that diagnosis of severe combined immunodeficiency via newborn blood spot screening significantly improved survival compared to diagnosis via clinical presentation. Qualitative data from the publications included in this evidence summary were generally indicative of parental support for newborn blood spot screening for severe combined immunodeficiency, but was mainly derived from parents of healthy newborns. The systematic review component of this evidence summary was limited by a restriction to full publications in the English language. The current published evidence base alone is not adequate to fully support implementation of newborn blood spot screening for severe combined immunodeficiency. With respect to UK National Screening Committee population screening criteria, criterion 4 was partially met and there was insufficient evidence to adequately assess whether criterion 6 was met. The findings of this evidence summary should be considered alongside findings from the recent in-service evaluation of newborn screening for severe combined immunodeficiency conducted in the NHS in England and the results of cost-effectiveness modelling. Further work is needed to inform policy on how the identification of non-severe combined immunodeficiency T-cell lymphopenia conditions by screening should be treated. Stakeholder dialogue and patient and public involvement activities may be helpful. In particular, the views of parents who have lived experience of a non-severe combined immunodeficiency (incidental) finding from newborn blood spot screening for severe combined immunodeficiency should be sought. This study is registered as PROSPERO CRD42024544200. This award was funded by the National Institute for Health and Care Research (NIHR) Evidence Synthesis programme (NIHR award ref: NIHR168307) and is published in full in Health Technology Assessment; Vol. 30, No. 45. See the NIHR Funding and Awards website for further award information. The UK National Screening Committee wants to know if screening all newborn babies for severe combined immunodeficiency would help babies and their families. Severe combined immunodeficiency is a rare, inherited condition that results in low numbers of white blood cells and prevents the body from fighting infection properly. There are usually no symptoms of severe combined immunodeficiency when an affected baby is born; however, a diagnosis of severe combined immunodeficiency is considered an emergency because the condition usually results in death in the first year, unless the child receives treatment. There is a test that can be used to screen for severe combined immunodeficiency; however, it is important to note that this test also identifies a large number of other conditions that affect the immune system. The UK National Screening Committee does not currently recommend screening newborn babies for severe combined immunodeficiency. This evidence summary was commissioned by the UK National Screening Committee as part of its regular, scheduled reviews of existing recommendations. There is evidence that babies with severe combined immunodeficiency who are diagnosed early, through screening, do better after treatment than those who are not diagnosed until they develop symptoms. However, most babies who have a screening test suggesting severe combined immunodeficiency do not actually have severe combined immunodeficiency. There is some evidence that parents support newborn screening for severe combined immunodeficiency; however, most of this evidence comes from parents of healthy newborns. There is a lack of information about the views of parents whose babies had a screening test suggesting severe combined immunodeficiency but did not have severe combined immunodeficiency. The evidence is not currently good enough to fully support implementation of newborn blood spot screening for severe combined immunodeficiency. The findings from the recent in-service evaluation of newborn screening for severe combined immunodeficiency conducted in the NHS in England should be considered with the findings from this evidence summary.
Successful use of word-formation strategies is fundamental for children's language development and vocabulary expansion (Clark, 2009, First language acquisition. Cambridge University Press). Notably, English-speaking children tend to use compounding (i.e., the joining of two roots/free morphemes) to form new words, a word-formation device highly productive in English. In contrast, Polish-speaking children rely more on derivation (i.e., the addition of an affix/bound morpheme to a root), a device which is highly productive in Polish. Less is known about how bilingual children apply word-formation devices. Thus, monolingual (English) and bilingual (English/Polish) children completed a word-formation task designed to elicit compounding (root, synthetic) and derivation (noun, verb, adjective). Results showed that bilingual children tested in Polish used more derivation and less compounding than children tested in English (monolingual, bilingual). These findings and others are discussed in terms of how bilingual children's input and testing languages may influence their use of word-formation devices.
The purpose of this study was to examine the validity of measures obtained from the Sentence Diversity Priming Task (SDPT), a structured elicitation protocol for assessing sentence development under supported conditions. We compared measures from the SDPT and a play-based language sample and between late-talking (LT) toddlers and typically developing (TD) peers. We evaluated differences between the two sampling contexts and examined how measures obtained from the two contexts were related. A sample of 60 LT toddlers and 77 TD toddlers between 30 and 38 months of age were drawn from the Midwest When to Worry study. Toddlers completed the SDPT and a 10-min parent-child language sample delivered and/or recorded through remote video chat platforms. Samples were analyzed for the number of complete and intelligible utterances, mean length of utterance (MLU), number of different words, verb diversity, and third-person (3P) subject diversity. We used repeated-measures analyses of variance to examine differences in measures across sampling context and LT language status as well as Pearson correlations to examine associations between measures. The SDPT elicited longer utterances with more diverse 3P subjects and verbs in fewer utterances than the play samples. Measures obtained from the SDPT also differentiated LT and TD groups, with a significant Group × Sampling Context interaction for MLU and 3P subject diversity. Measures across the SDPT and play sample were also significantly associated. These findings support the validity of the SDPT as an efficient tool for assessing sentence diversity with young children. Potential uses of the measures derived from the SDPT to distinguish toddlers most at risk for developmental language disorder are discussed. Demonstrating discriminative utility will be an important next step. https://doi.org/10.23641/asha.32065587.
Parents of children with achondroplasia face sustained caregiving demands that may affect multiple dimensions of well-being. Despite growing recognition of these challenges, no validated, condition-specific instrument exists to assess the quality of life (QoL) of parents of children with achondroplasia. This study aimed to develop, and pilot test the Quality of Life of Parents of Children with Achondroplasia (QOLA) questionnaire. QOLA was developed using a multi-phase mixed-methods design in accordance with established standards for developing self-reported outcome measures for caregivers and parents. Phase 1 comprised semi-structured qualitative interviews with 17 parents of children with achondroplasia to identify relevant QoL domains and language. Interview data were analysed using qualitative content analysis and informed systematic item generation (Phase 2). Conceptual structure was examined through researcher-led card sorting (Phase 3) and two rounds of international card sorting following translation (Phase 4). The resulting 63-item questionnaire across eight domains was pilot-tested in a cross-sectional, multi-country study with embedded cognitive debriefing in Germany, Italy, and Portugal (total N = 50). The final pilot version of QOLA comprised 63 items across eight domains covering healthcare experiences, challenges and support, physical health, mental health, social life and relationships, coping, family and daily life, and worries and future concerns. Item-level missing data were minimal, and no pronounced floor or ceiling effects were observed. Internal consistency was acceptable to good for domains (α = 0.624-0.821) and good for the total scale (α = 0.798). Inter-domain correlations were generally moderate to strong. Cognitive debriefing was highly acceptable and relevant across countries, with some suggestions for further refinement. QOLA shows strong preliminary evidence of acceptability and internal consistency and addresses a key measurement gap in achondroplasia research. Further large-scale psychometric validation is warranted.
Children and young people (CYP) with neurodevelopmental diagnoses such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have high child and adolescent mental health service (CAMHS) needs. Mood instability is a common and impairing emotion dysregulation-related symptom linked to increased adult psychiatric service use; however, its role in CAMHS trajectories remains unclear. We aimed to examine whether baseline mood instability was significantly associated with time to discharge and annual CAMHS use in CYP with ASD and/or ADHD. We applied natural language processing (NLP) to extract mentions of mood instability within 3 months of ASD or ADHD index diagnosis from electronic health records of 21 906 CYP referred to CAMHS between 2008 and 2022. We used accelerated failure time models and negative binomial regression to assess associations between baseline mood instability and time to discharge and annual CAMHS use, adjusting for clinical and sociodemographic confounders. Mood instability was associated with increased annual CAMHS use across ASD (adjusted incidence rate ratio (aIRR) 1.24, 95% CI 1.08 to 1.42), ADHD (aIRR 1.47, 95% CI 1.30 to 1.67) and ASD+ADHD (aIRR 1.27, 95% CI 1.12 to 1.44) groups. While mood instability had no significant effect on discharge timelines in autistic children with or without ADHD, it was linked to reduced time to discharge in the ADHD group (aTR 0.76, 95% CI 0.69 to 0.84). Associations were most pronounced in those not receiving ADHD medication in the ADHD group (aIRR 1.67, 95% CI 1.47 to 1.89; aTR 0.70, 95% CI 0.61 to 0.79). Mood instability was significantly associated with elevated CAMHS use in CYP with neurodevelopmental conditions, with differential effect across diagnostic groups. This may reflect both variations in clinical expression of mood instability and configuration of neurodevelopmental CAMHS provision. These findings suggest the importance of assessing emotion dysregulation in care planning and pathway allocation in neurodevelopmental CAMHS. NLP offers a time- and cost-efficient approach to surface and structure clinical data from electronic CAMHS records for scalable clinical research on complex constructs such as mood instability.
The 2023 iteration of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) estimated prevalence, incidence, and health burden for 375 diseases and injuries, including 12 mental disorders. We assess past, current, and emerging trends in the prevalence and burden of mental disorders across sexes and age groups, for 21 regions, 204 countries and territories, and by Socio-demographic Index (SDI) quintile, from 1990 to 2023. Mental disorders included in GBD 2023 were anxiety disorders, major depressive disorder, dysthymia, bipolar disorder, schizophrenia, autism spectrum disorders, conduct disorder, attention-deficit hyperactivity disorder, anorexia nervosa, bulimia nervosa, idiopathic developmental intellectual disability, and a residual category of other mental disorders. A literature review identified epidemiological data for each disorder. These were analysed via a Bayesian meta-regression to estimate prevalence by disorder, sex, age, location, and year. Disorder-specific prevalence was multiplied by disability weights representing the severity of health loss associated with each disorder to estimate years lived with disability (YLDs). Deaths due to anorexia nervosa were assessed with a Cause of Death Ensemble modelling strategy to estimate deaths by sex, age, location, and year, and then multiplied by the standard life expectancy at age of death to estimate years of life lost (YLLs). YLDs equalled disability-adjusted life-years (DALYs) for all mental disorders except anorexia nervosa (the only mental disorder considered as an underlying cause of death in GBD), for which DALYs represented the sum of YLDs and YLLs. We presented prevalence, deaths, YLDs, YLLs, and DALYs as counts, age-specific rates per 100 000 population, and age-standardised rates per 100 000 population. We estimated 1·17 billion (95% uncertainty interval 1·06-1·31) prevalent cases of mental disorders globally in 2023, equivalent to an age-standardised prevalence rate of 14 210·7 cases (12 849·5-15 940·1) per 100 000 population. These estimates represented a 95·5% (75·0-121·2) increase in prevalent cases and 24·2% (11·4-41·4) increase in age-standardised prevalence rate between 1990 and 2023. All mental disorders showed increases in prevalent cases between 1990 and 2023, while notable increases were seen in age-standardised prevalence rates for anxiety disorders, major depressive disorder, dysthymia, anorexia nervosa, bulimia nervosa, schizophrenia, and conduct disorder. There were an estimated 171 million (127-228) DALYs due to mental disorders globally across sex and age in 2023, equivalent to an age-standardised DALY rate of 2070·5 DALYs (1519·1-2750·5) per 100 000 population. Mental disorders contributed to 6·1% (4·8-7·6) of all-cause DALYs in 2023, making them the fifth leading cause of global DALYs (up from 12th in 1990). DALYs were almost entirely composed of YLDs. Mental disorders were the leading cause of YLDs in 2023 (up from second in 1990), explaining 17·3% (14·8-20·6) of all-cause global YLDs. Leading causes of mental disorder DALYs were anxiety disorders (ranked 11th among the 304 diseases and injuries at Level 4 of the GBD cause hierarchy), major depressive disorder (15th), and schizophrenia (41st). Globally in 2023, mental disorder age-standardised DALY rates were higher among females (2239·6 [1643·7-3014·1] per 100 000) than among males (1900·2 [1399·8-2510·8] per 100 000), and peaked in the 15-19 years age group (2617·3 [1850·6-3696·8] per 100 000). All locations showed increased mental disorder DALY rates in 2023 compared with 1990, ranging across countries and territories from 1302·4 (952·7-1683·7) per 100 000 in Viet Nam to 3555·8 (2661·9-4715·0) per 100 000 in the Netherlands. Across SDI quintiles, DALY rates ranged from 1853·0 (1352·1-2469·3) per 100 000 for middle SDI to 2184·1 (1606·1-2890·3) per 100 000 for high SDI. A significant health burden was imposed by mental disorders in all countries and territories in 2023, irrespective of the health resources available. In some instances, this burden has increased over time and is unevenly distributed across populations. Stronger surveillance systems, particularly in low-income and middle-income countries, are required. Additionally, we need more coordinated and inclusive policies to reduce the burden through early treatment and prevention, tailored to sex and age differences across locations. Responding to the mental health needs of our global population, especially those most vulnerable, is an obligation, not a choice. Gates Foundation, Queensland Health, and University of Queensland.
Migraine affects up to 10% of the primary school children (6-14 years old) and its diagnosis is challenging. The purpose of our study is to present the Hungarian-language validation process of the McMaster Paediatric Migraine Headache Questionnaire, which is an easy-to-use questionnaire for workers in both outpatient and inpatient care. The linguistic validation was conducted according to an international protocol: permission of the corresponding author, two independent forward translations, a synthesis of the translations, back translations and consensus team review. The comprehensibility of the resulting Hungarian version was tested during a pilot study involving 31 young children with headaches. The reliability of the questionnaire was examined by calculating the Cronbach's alpha coefficient showing the internal consistency of the items. A total of 31 people filled the questionnaire, their mean age was 12.58 ± 3.3 years (16 girls, mean age 11.56 ± 3.1 years; 15 boys, mean age 13.7 ± 3.2 years). Almost three quarters of the participants (23 people, 74.2%) reported 5 or more headache days in a month. Based on the results of the McMaster Pediatric Migraine Questionnaire, 41.9% (13 people) of the participants suffered from migraine, and 9.6% of them had migraine with aura. The respondents rated the comprehensibility of the questionnaire as 1.93 on a scale from 1 (very easy) to 10 (very hard), which indicates easy completion. The Cronbach's alpha value of the questionnaire is 0.709, which means adequate reliability, but the complex validation process requires a larger sample. The final Hungarian version of the questionnaire used is suitable for the next step of linguistic and cross-cultural adaptation, by examining a larger patient population for the screening of childhood migraines in both outpatient and inpatient care. A migrén az általános iskolás korosztály (6–14 évesek) akár 10%-át is érintheti, diagnosztizálása pedig kihívásokkal teli. Vizsgálatunk célja a McMaster Paediatric Migraine Headache Questionnaire – ami egy könnyen felhasználható kérdőív az alap- és szakellátásban dolgozók számára – magyar nyelvű validációs folyamatának bemutatása. Először az eredeti cikk levelező szerzőjének engedélyét kértük a validációs folyamatra, hozzájárulása után két szakfordító külön-külön lefordította a kérdőívet angol forrásnyelvről magyarra; egy harmadik szakfordító bevonásával elkészült a két verzió szintézise, majd azt két, angol anyanyelvű fordító visszafordította angol forrásnyelvre, amit konszenzusmegbeszélés követett. Az így kapott magyar verzió érthetőségét 31 fejfájós kisgyermek bevonásával pilótavizsgálat során teszteltük. A kérdőív megbízhatóságát a tételek belső konzisztenciáját mutató Cronbach-α együttható kiszámításával vizsgáltuk. A kérdőívet összesen 31 fő töltötte ki, átlagéletkoruk 12,58 ± 3,3 év volt (16 lány, átlagéletkor 11,56 ± 3,1 év; 15 fiú, átlagéletkor 13,7 ± 3,2 év). A résztvevők csaknem háromnegyede (23 fő, 74,2%) számolt be havi 5, vagy ennél több fejfájós napról. A McMaster Paediatric Migraine Questionnaire eredményei alapján a résztvevők 41,9%-a (13 fő) migrénben szenved, illetve 9,6%-uknál az aurás migrén diagnózisa is felmerül. A kitöltők a kérdőív érthetőségét az 1-től (nagyon könnyű) 10-ig (nagyon nehéz) terjedő skálán 1,93-ra értékelték, ami könnyű kitölthetőséget jelez. A kérdőív Cronbach-α-értéke 0,709, ami megfelelő konzisztenciát jelent, de a komplex validálási folyamathoz ennél nagyobb esetszám szükséges. A kérdőív végső magyar változata alkalmas a nyelvi és kultúrközi adaptáció következő lépésének elvégzésére, a nagyobb betegpopuláción történő vizsgálat után pedig a gyermekkori migrén szűrésére az alap- és szakellátásban.
This study examines evidence-based pedagogical strategies aimed at enhancing communication competence, with a particular focus on foreign language speaking skills, among Deaf and Hard of Hearing (DHH) students at the primary education level. Acknowledging the distinct linguistic, cognitive, and communicative characteristics of DHH learners, the research addresses the central question: Which instructional techniques most effectively promote the development of speaking and broader communicative abilities in this population? Employing a qualitative research design, the study engaged 55 primary-level DHH students and utilized classroom observations, student questionnaires, and semi-structured interviews with teachers and educational specialists, thereby adopting a multi-perspective methodological framework that enables the triangulation of learner, classroom and professional perspectives. The findings underscore the efficacy of multimodal and visually enriched teaching approaches, the value of differentiated, learner-centered instruction, and the importance of collaborative learning environments in supporting oral foreign language development. The research provides empirical insights into the design of inclusive and responsive language education practices for DHH learners, including those relevant to foreign language speaking skills, drawing on triangulated qualitative evidence from multiple educational stakeholders, contributing to the advancement of both academic achievement and communicative competence in diverse classroom settings.
Child refugees face high developmental risks, often linked to disruptions in their everyday activities, an issue that may be addressed through occupation-centered interventions. To examine the existing evidence on the effects of occupation-centered interventions targeting displaced families and children on children's participation in everyday activities. Randomized controlled trials (RCTs), quasi-experimental studies, pre-post designs, and qualitative research on family- and child-focused occupation-centered interventions, written in English, and published between January 2000 and August 2024, were extracted from PubMed, Scopus, EBSCO, and PsycINFO. Seven RCTs, five non-RCTs, two qualitative studies, and one mixed-method study met the inclusion criteria. The studies' participants were refugee or asylum-seeking minors and adults. Children's participation in any occupation was assessed before and after administration of occupation-centered interventions. The Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRSIMA) methodology was followed. Quality appraisal was performed with the Cochrane risk-of-bias tool, the Furlan 12-Question Tool, a Joanna Briggs Institute critical appraisal tool, the GRADE-Confidence in the Evidence from Reviews of Qualitative Research tool, and the Mixed Methods Appraisal Tool. Findings for outcomes concerning participation in all domains of occupations were inconsistent. The limited number of studies and their methodological constraints inhibited conclusive findings. Interventions centered on occupation may benefit refugee children's participation in everyday activities. Rigorous and context-sensitive future research is needed to strengthen the evidence, particularly for occupation-centered interventions. Plain-Language Summary: Occupation-centered interventions use everyday activities to help children and adults live healthy and meaningful lives. This review looks at whether these approaches help refugee children take part in their daily activities. Current research shows they may help to improve refugee children's participation, but more studies are needed to draw stronger conclusions. Refugee children may benefit from interventions that respect their cultural and social backgrounds, just as taking part in familiar and meaningful activities supports their development, well-being, and sense of belonging in a new community.
Pediatric emergency triage is a safety-critical task, and recent studies have explored whether artificial intelligence, including language models, can support triage decision-making; however, evidence on fine-tuned open-weight language models remains limited. We conducted a retrospective benchmark study using de-identified triage records from a tertiary pediatric emergency department in Korea collected from January 2020 to April 2025. After exclusions, 74,170 encounters were included. Each encounter was reconstructed into a case-level text sequence from triage-time structured variables and nurse-authored narratives. Qwen3-8B-Base was fine-tuned with Low-Rank Adaptation and Group Relative Policy Optimization using a safety-oriented reward design and was compared with a structured-data XGBoost model on a common evaluable test subset of 14,832 encounters. The fine-tuned model achieved an accuracy of 58.60%, a macro-F1 score of 0.417, and a quadratic weighted kappa of 0.535. Within-one-level agreement was 97.13%, and strict under-triage, defined as true Korean Triage and Acuity Scale levels 1 or 2 predicted as levels 4 or 5, occurred in 0.65% of cases. The structured-data comparator showed higher overall performance, with an accuracy of 69.40%, a macro-F1 score of 0.618, and a quadratic weighted kappa of 0.651. However, the fine-tuned model showed fewer extreme errors and lower strict under-triage in selected high-acuity groups, at the cost of higher over-triage. In this real-world pediatric benchmark, the fine-tuned language model did not surpass the structured-data comparator in overall performance but showed a distinct safety-oriented error profile. These findings support its potential role as a decision-support aid for human triage review rather than an autonomous triage system. External and prospective validation will be necessary before clinical implementation.
Although Mycoplasma pneumoniae pneumonia (MPP) is a leading cause of pediatric community-acquired pneumonia, the specific clinical impact of respiratory pathogen co-detection remains incompletely understood. In this retrospective cohort study, we analyzed data from 3081 children hospitalized with confirmed MPP at a single center in China (January 2023-December 2024). Based on comprehensive respiratory pathogen testing, patients were classified into MPP mono-infection (n = 1173) or MPP co-detection (n = 1908) groups. Severe MPP (SMPP) was defined as a composite outcome per national guidelines. The primary outcome was the incidence of SMPP; secondary outcomes included specific complications, healthcare utilization, and costs. Stratified analysis by co-detection pattern (single virus, single bacterium, viral-bacterial, and multiple viruses) was performed. Multivariable logistic regression was used to assess the independent association of co-detection with SMPP, adjusting for sex, age, platelet count, C-reactive protein (CRP) level, and D-dimer level. The co-detection rate was 61.9% (1908/3081). Among co-detected cases, single-viral detection was most common (41.8%), followed by viral-bacterial detection (19.1%). Adenovirus (33.5%) and rhinovirus (32.1%) were the predominant single viruses. The co-detection group exhibited a significantly higher incidence of SMPP (51.8% vs. 47.3%, P = 0.018), higher total hospitalization costs, longer hospital stays, and longer durations of cough and fever (all P < 0.001). Stratified analysis revealed that the viral-bacterial co-detection subtype consistently exhibited the most severe outcomes. After adjusting for sex, age, platelet count, CRP level, and D-dimer level, pathogen co-detection was an independent risk factor for SMPP [adjusted odds ratio (OR) = 1.31; 95% confidence interval = 1.11-1.56; P = 0.002]. Elevated D-dimer levels (adjusted OR = 3.66) and older age were also significant independent predictors. Respiratory pathogen co-detection is prevalent in children with MPP and is independently associated with disease progression to SMPP (as defined by guideline criteria), prolonged hospitalization, and increased healthcare costs. The viral-bacterial co-detection pattern is associated with the greatest risk. These findings underscore the importance of comprehensive pathogen screening in the management of pediatric MPP.