Early human development最新文献

{"title":"Cardiac function and neurological development in complicated monochorionic pregnancies: Current evidence and clinical implications","authors":"Miriam Lopian ,&nbsp;Asma Khalil","doi":"10.1016/j.earlhumdev.2025.106221","DOIUrl":"10.1016/j.earlhumdev.2025.106221","url":null,"abstract":"<div><div>Monochorionic twin pregnancies, characterized by a shared placenta and unique vascular architecture, face significantly elevated risks of perinatal complications compared to dichorionic and singleton pregnancies. This review examines the pathophysiology, cardiovascular, and neurological adaptations in three primary complications of monochorionic pregnancies: Twin-to-Twin Transfusion Syndrome (TTTS), Selective Fetal Growth Restriction (sFGR), and Twin Anemia Polycythemia Sequence (TAPS).</div><div>TTTS disrupts hemodynamic balance, leading to distinct cardiac dysfunctions and increased neurodevelopmental injury (NDI). In sFGR, unequal placental sharing induces cardiovascular and neurological disparities between twins, while TAPS causes chronic anaemia and polycythemia with associated risks of brain injury. Advances in fetal therapy, such as fetoscopic laser surgery, have significantly improved survival, yet long-term sequelae remain concerning.</div><div>This review emphasizes the importance of specialised prenatal care, multidisciplinary management, and comprehensive postnatal follow-up to mitigate adverse outcomes.</div><div>The findings call for further research into the mechanisms of fetal adaptation and injury, aiming to refine diagnostic tools and therapeutic strategies.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"202 ","pages":"Article 106221"},"PeriodicalIF":2.2,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Worldwide prevalence and disability from preterm-associated developmental intellectual disability during childhood and adolescence","authors":"Fang Wang ,&nbsp;Kun Feng","doi":"10.1016/j.earlhumdev.2025.106218","DOIUrl":"10.1016/j.earlhumdev.2025.106218","url":null,"abstract":"<div><h3>Objective</h3><div>To comprehensively assess the prevalence and years lived with disability (YLDs) of preterm-associated developmental intellectual disability (PDID) in children and adolescents born preterm (CABP) from 1990 to 2021.</div></div><div><h3>Method</h3><div>Using data from the Global Burden of Disease 2021, the burden of PDID in CABP (0–19 years) at global, regional and national levels was assessed by joinpoint regression, age-period-cohort (A-P-C) analysis, and cross-country health inequality analysis.</div></div><div><h3>Results</h3><div>Globally, there were 12,114,153 prevalent cases and 915,937 YLDs of PDID in CABP in 2021, with much higher values in males than in females. Moreover, the prevalent cases and YLDs demonstrated significant increasing trends, whereas only the age-standardized rate of prevalence showed a slight decline from 1990 to 2021 worldwide, with a slight increase in the proportion of severe cases. The age subgroup analysis showed a significant reduction in the burden of PDID in children aged &lt;5 years. The A-P-C analysis found that, in contrast to middle to high-sociodemographic index (SDI) regions, the risk of PDID was highest in children aged &lt;5 years, and that period and cohort effects were unfavourable in low-SDI regions. The results of cross-country health inequality analysis showed that the burden of PDID in CABP was concentrated in low-SDI countries, while SDI-related inequalities generally decreased between 1990 and 2021.</div></div><div><h3>Conclusion</h3><div>Overall, the global burden of PDID in CABP has increased from 1990 to 2021, while the burden in children under 5 years of age has decreased globally. Despite reduced health inequalities, low-SDI regions still bear a significant burden.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"202 ","pages":"Article 106218"},"PeriodicalIF":2.2,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143379346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lending a helping hand to preterm infants: Randomized controlled trial of the impact of ‘sticky mittens’ on exploratory behavior and later development","authors":"Ruth M. Ford ,&nbsp;Manuela Stets ,&nbsp;Sarah Redsell ,&nbsp;Angela D'Amore ,&nbsp;Samantha Johnson","doi":"10.1016/j.earlhumdev.2025.106215","DOIUrl":"10.1016/j.earlhumdev.2025.106215","url":null,"abstract":"<div><div>Research with 3-month-old infants from the general population has shown benefits to their exploratory behavior from play involving ‘sticky mittens’. Sticky mittens are Velcro-covered mittens that are used with Velcro-covered toys to enable pre-reaching infants to grab and move toys simply by swatting at them. Our randomized controlled trial examined whether sticky mittens play, supervised by parents in the home environment, could similarly improve the exploratory behavior and later development of preterm infants. Participants (<em>N</em> = 62, 25–33 weeks of gestation) were recruited at 3 months of age corrected for prematurity and assigned randomly to either an intervention or active control group. For up to 5–10 min per day for three weeks, the intervention group used sticky mittens regularly while the control group instead watched their caregiver move the toys. Object-oriented exploratory behavior was evaluated immediately before and after the intervention, and caregivers completed questionnaires about their infant's development until 15 months' corrected age. Results showed that the intervention group made significantly greater gains than the control group in mouthing, <em>F</em> = 9.24, <em>p</em> = .004, η_p² = 0.13, and bimanual exploration of the toys at or near the mouth, <em>F</em> = 8.07, <em>p</em> = .006, η_p² = 0.12. However, the groups showed equivalent development over the next year as gauged by parent-report questionnaires <em>p</em>'s &gt; 0.05. While the sticky mittens intervention has immediate benefits for preterm infants' exploratory behavior, more research is needed before conclusions can be drawn regarding the longer-term impact on their development.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"202 ","pages":"Article 106215"},"PeriodicalIF":2.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143349206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extra-uterine placental transfusion and intact-cord stabilisation of moderately preterm to term infants in caesarean deliveries - A feasibility study with historical control (INTACT-2)","authors":"Elisabeth Sæther ,&nbsp;Ola Andersson ,&nbsp;Tor Åge Myklebust ,&nbsp;Solveig Bjellmo ,&nbsp;Stine Bernitz ,&nbsp;Solhild Stridsklev ,&nbsp;Beate Horsberg Eriksen","doi":"10.1016/j.earlhumdev.2025.106208","DOIUrl":"10.1016/j.earlhumdev.2025.106208","url":null,"abstract":"<div><div>Background: Although delayed umbilical cord clamping (DCC) is universally recommended, implementation has been difficult in caesarean deliveries. The study objective was to test if extra-uterine placental transfusion (delivering the placenta before cord clamping) to facilitate intact-cord stabilisation could be a feasible and safe alternative to DCC (≥ 1 min) for moderately preterm to term infants with caesarean delivery in regional anaesthesia and their mothers. Methods: This feasibility study included infants with GA 32⁰ to 42³ weeks with planned or emergency caesarean delivery. Primary outcome was intervention compliance. Safety outcomes were prevalence of blood loss ≥1000 ml or postoperative wound infection in mothers, and prevalence of early cord clamping (ECC), low 5-min Apgar scores and hypothermia in infants. Results: We included 123 mother-infant pairs in the intervention group and 158 in the historical control group. The intervention was successfully completed in 121 of 123 cases. There were no statistically significant differences in maternal outcomes. Significantly less infants in the intervention group had ECC before 60 s (OR 0.07, CI (0.01–0.51), <em>P</em> = 0.009) and 5-min Apgar scores &lt;7 (<em>P</em> = 0.003) compared to historical controls. There was no significant difference in infant hypothermia. Conclusion: Extra-uterine placental transfusion may be a reasonable alternative to DCC for term and near term preterm infants with caesarean delivery in regional anaesthesia. The intervention may be especially useful in low-income birth settings with high prevalence of iron deficiency/anaemia and no mobile resuscitation equipment.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"202 ","pages":"Article 106208"},"PeriodicalIF":2.2,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143377797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical validation of an abridged AIMS: Streamlining motor screening in the first-year infant","authors":"Teresa Fair-Field ,&nbsp;Bharath Modayur","doi":"10.1016/j.earlhumdev.2025.106207","DOIUrl":"10.1016/j.earlhumdev.2025.106207","url":null,"abstract":"<div><div>This study validates an abridged version of the Alberta Infant Motor Scale (AIMS), termed the “salient set,” to streamline infant screening using video analysis and machine learning. Twenty-one retrospective infant videos were manually tagged by trained occupational therapists using only the 15-item salient set with support vector regressors (SVRs) trained on a larger sample (<em>n</em> = 102) predicting the true (full) AIMS score. The SVR demonstrated strong concurrent validity of the salient set with the full 58-item AIMS (Pearson correlation: 0.99). The abridged set showed high screening sensitivity (1.0) and specificity (0.895), while reducing evaluation time by 67 %. The salient set offers a useful contribution to machine learning by detecting an abridged set of items while still accurately and appropriately identifying infants for EI referral.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"202 ","pages":"Article 106207"},"PeriodicalIF":2.2,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does paced bottle-feeding improve the quality and outcome of bottle-feeding interactions?","authors":"Alison K. Ventura ,&nbsp;Vivian M. Drewelow ,&nbsp;Taylor N. Richardson","doi":"10.1016/j.earlhumdev.2024.106181","DOIUrl":"10.1016/j.earlhumdev.2024.106181","url":null,"abstract":"<div><h3>Background</h3><div>Responsive feeding is recommended and occurs when caregivers use infants' behavioral cues to guide the timing, pacing, and duration of feeding. Paced bottle-feeding is an approach designed to promote responsive bottle-feeding by mimicking the behavioral benefits of breastfeeding. This study evaluates the efficacy of paced bottle-feeding compared to typical bottle-feeding and breastfeeding for promoting responsive feeding and other markers of healthy feeding outcomes, such as slower feeding rates and lower likelihood of spitting up.</div></div><div><h3>Methods</h3><div>This within-subject, experimental study involved 29 mothers and their typically developing full-term infants. Participants were observed during three feeding conditions: <em>Breastfeeding</em>, <em>Typical bottle-feeding</em>, and <em>Paced bottle-feeding</em>. Each feeding session was video-recorded and coded using the Nursing Child Assessment Caregiver-Child Interaction Feeding Scale. Outcome measures included maternal sensitivity to infant cues, infant clarity of cues, infant milk intake, meal duration, and feeding rate. Mixed linear models were used for data analysis.</div></div><div><h3>Results</h3><div>Maternal sensitivity to infant cues and infant clarity of cues were similar between paced bottle-feeding and typical bottle-feeding but lower than breastfeeding. Paced bottle-feeding led to significantly longer feeding durations and slower feeding rates than typical bottle-feeding, with no significant differences in milk intake. Infant clarity of cues moderated impacts of feeding condition on maternal sensitivity to infant cues; when infants exhibited lower clarity of cues, maternal sensitivity to infant cues was lowest during typical bottle-feeding compared to paced bottle-feeding and breastfeeding.</div></div><div><h3>Conclusions</h3><div>Paced bottle-feeding effectively slowed feeding rates and extended meal durations. Paced bottle-feeding was also associated with greater maternal sensitivity to infant cues compared to typical bottle-feeding when infants had lower clarity of cues. These findings provide preliminary evidence of the potential for paced bottle-feeding to promote responsive feeding.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"201 ","pages":"Article 106181"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of sequential swallow training programme on feeding transition and suck-swallow-breath coordination in preterm infants","authors":"Guoqiang Ren ,&nbsp;Lina Fan ,&nbsp;Yanni Chen ,&nbsp;Haihong Lei ,&nbsp;Wenhua Wu ,&nbsp;Ying Ma ,&nbsp;Yanxia Huang","doi":"10.1016/j.earlhumdev.2025.106193","DOIUrl":"10.1016/j.earlhumdev.2025.106193","url":null,"abstract":"<div><h3>Aims</h3><div>To retrospectively evaluate the effect of a sequential swallow training programme (SSTP) consisting of nonnutritive sucking (NNS), modified feeding posture, oral sensory-motor intervention and breath exercise on the independent oral feeding transition and coordination of suck-swallow-breath (SSB) functions in preterm infants.</div></div><div><h3>Methods</h3><div>Sixty preterm infants received SSTP intervention and sixty infants receiving NNS were set as control. The feeding performance and SSB coordination were assessed using POFRAS and NOMAS scales.</div></div><div><h3>Results</h3><div>The transition interval were 8.42 ± 4.49 and 10.27 ± 5.05 days for SSTP and NNS group, respectively (<em>P</em> = 0.022). SSTP group had substantially more weight gains and shorter in-hospital stay than NNS. Two groups had comparable POFRAS and NOMAS scores before interventions, which were significantly increased after treatments in the two groups (<em>P</em> &lt; 0.05). SSTP groups exhibited higher POFRAS scores, and better NOMAS performance reflected by the movement and coordination of jaw and tongue, especially in the normal sucking domain than the NNS group (<em>P</em> &lt; 0.05). Both interventions significantly reduced the episodes of desaturation, apnea, and bradycardia, while no priority was shown for SSTP comparing with NNS. Multivariate linear regression analysis revealed that SSTP intervention was independently associated with decreased full oral feeding transition days, more weight gain during intervention and higher POFRAS score after intervention.</div></div><div><h3>Conclusion</h3><div>SSTP intervention shorten the transition days to full oral feeding and efficiently improved oral movement and coordination of SSB pattern when feeding.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"201 ","pages":"Article 106193"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early postnatal transitional circulation in fetal growth restricted neonates","authors":"Lisa Bjarkø ,&nbsp;Drude Fugelseth ,&nbsp;Guttorm Haugen ,&nbsp;Eirik Nestaas","doi":"10.1016/j.earlhumdev.2024.106170","DOIUrl":"10.1016/j.earlhumdev.2024.106170","url":null,"abstract":"<div><h3>Background</h3><div>Fetal growth restriction (FGR) may impact early postnatal transitional circulation.</div></div><div><h3>Aim</h3><div>Echocardiographic assessment of left ventricular cardiac output, superior vena cava (SVC) and ductus venosus (DV) blood flow in FGR neonates first three days after birth.</div></div><div><h3>Study design</h3><div>Prospective observational study.</div></div><div><h3>Subjects</h3><div>FGR and Non-FGR neonates.</div></div><div><h3>Outcome measures</h3><div>Left ventricular cardiac output, SVC and DV blood flow day one, two, and three.</div></div><div><h3>Results</h3><div>Adjusting for gestational age (GA), birth weight, sex, and twin/singleton, flow measurements were similar between Late-FGR (GA ≥ 32 weeks, <em>n</em> = 23) and Non-FGR (GA ≥ 32 weeks, <em>n</em> = 39). On day three, Late-FGR had significantly lower left ventricular stroke volume (Estimated Marginal Means (Standard Error) 0.99 (0.08) vs 1.22 (0.06) mL/kg, <em>p</em> = 0.027) and higher heart rate (134 (5) vs 119 (4) beats/min, <em>p</em> = 0.032). Left ventricular cardiac output and left ventricular stroke volume decreased significantly from day one to three in both groups; Late-FGR 170 (8) to 149 (8) mL/min/kg, <em>p</em> = 0.007, and 1.34 (0.07) to 1.17 (0.07) mL/kg, <em>p</em> = 0.015, and Non-FGR 161 (6) to 144 (6) mL/min/kg, <em>p</em> = 0.002, and 1.27 (0.06) to 1.16 (0.06) mL/kg, <em>p</em> = 0.021. SVC flow remained unchanged from day one to three in Late-FGR (92 (6) to 83 (6) mL/min/kg, <em>p</em> = 0.161) and decreased significantly in Non-FGR (83 (5) to 71 (5) mL/min/kg, <em>p</em> = 0.021). DV blood flow remained unchanged. No measurements differed between Early-FGR (GA 30⁺⁰–31⁺⁶ weeks) and Late-FGR.</div></div><div><h3>Conclusions</h3><div>Late-FGR had limited impact on left ventricular cardiac output, SVC and DV blood flow in early neonatal period. Most adaptive circulatory changes occurred early during transition.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"201 ","pages":"Article 106170"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between cerebrospinal fluid levels of neuro-specific enolase after hypothermia alone and in combination with neurodevelopmental outcomes at age six years","authors":"Toshiyuki Imanishi,&nbsp;Masaki Shimizu,&nbsp;Wakako Sumiya,&nbsp;Chika Kanno,&nbsp;Masayuki Kanno,&nbsp;Masami Kanno,&nbsp;Ken Kawabata","doi":"10.1016/j.earlhumdev.2024.106186","DOIUrl":"10.1016/j.earlhumdev.2024.106186","url":null,"abstract":"<div><h3>Background</h3><div>Hypoxic-ischemic encephalopathy (HIE) is still associated with death and sequelae including cerebral palsy and intellectual disability despite induced hypothermia. Biomarkers, as early predictive indicators of adverse outcomes, are lacking.</div></div><div><h3>Aims</h3><div>To investigate whether post-rewarming cerebrospinal fluid (CSF)-neuro-specific enolase (NSE) levels after hypothermia are associated with neurodevelopmental outcomes at age six years, alone or when combined with amplitude-integrated electroencephalography (aEEG) and brain magnetic resonance imaging (MRI), as neuroimaging and neurophysiological indicators, respectively.</div></div><div><h3>Participants</h3><div>We retrospectively enrolled 157 patients with HIE from 2011 to 2018 with available post-rewarming CSF-NSE levels and developmental tests at age six years. Of these, 148 met the inclusion criteria, and 87 were evaluated in the final analysis.</div></div><div><h3>Outcome measures</h3><div>Multivariate receiver operating characteristic analysis determined the predictive ability of post-rewarming CSF-NSE levels for adverse outcomes including death and cerebral palsy, intellectual disability, and borderline disability at age 6 years either singly or in combination with aEEG and MRI findings, using logistic regression analysis.</div></div><div><h3>Results</h3><div>The cut-off value for CSF-NSE at a median 5 days after birth was 233 ng/dL (area under the curve 0.97, 95 % confidence intervals of 0.93–1.00, sensitivity 1, specificity 0.94) for death. Regarding cerebral palsy and intellectual disability, the combination of abnormal aEEG at 72 h, moderate-severe MRI injury findings, and with or without CSF-NSE (cut-off value: 55 ng/mL), odds ratio (95 % confidence intervals) improving from 8.6 (2.7–27.8) to 12.4 (3.5–43.9) (<em>p</em> &lt; 0.01).</div></div><div><h3>Conclusions</h3><div>In patients with HIE, post-rewarming CSF-NSE levels were associated not only with death independently but with cerebral palsy and intellectual disability in combination with EEG and MRI findings.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"201 ","pages":"Article 106186"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142964205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis","authors":"Dimple Goel ,&nbsp;Andrew Wilson ,&nbsp;Gareth Baynam ,&nbsp;Karen Waters ,&nbsp;Jane Pillow ,&nbsp;Shripada Rao","doi":"10.1016/j.earlhumdev.2024.106185","DOIUrl":"10.1016/j.earlhumdev.2024.106185","url":null,"abstract":"<div><h3>Objective</h3><div>To estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.</div></div><div><h3>Study design</h3><div>Electronic databases such as PubMed, Embase, CINAHL, APA PsycInfo, Emcare, MedNAR and Cochrane library were searched systematically from inception to 31st May 2024. Studies reporting on the neurodevelopmental (global, cognitive, or motor) outcomes in children with RS were included. Data was extracted using a standardized form by two independent reviewers. Overall and subgroup-specific prevalence (95% CI) of neurodevelopmental impairment was estimated with random-effects meta-analysis. Subgroup analyses were performed for three categories of RS: isolated (no other associated abnormalities), syndromic RS (associated with a genetic syndrome), and RS plus (associated with non-syndromic congenital abnormalities).</div></div><div><h3>Results</h3><div>A total of 2919 records were screened. Seventeen studies were included in the systematic review, of which data from 16 studies (<em>n</em> = 1008) were pooled for meta-analysis. The overall prevalence of neurodevelopmental impairment was 19 % (12–26 %). Neurodevelopmental impairment prevalence in isolated RS was 10 % (5 to16%), syndromic RS 19 % (02 to44%), and RS plus 63 % (39 to84%). The overall prevalence in non-isolated RS (syndromic and plus) was 35 % (22 to49%).</div></div><div><h3>Conclusion</h3><div>This is first systematic review and meta-analysis to report on the global prevalence of neurodevelopmental impairment in children with RS. Children with RS are at high risk of neurodevelopmental impairment and should be considered for long-term neurodevelopmental follow up. These findings will guide clinician counselling of parents, resource allocation, facilitate benchmarking, and enable the assessment of treatment impact in future studies.</div></div>","PeriodicalId":11435,"journal":{"name":"Early human development","volume":"201 ","pages":"Article 106185"},"PeriodicalIF":2.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}