Journal of Neurodevelopmental Disorders最新文献

{"title":"Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.","authors":"Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U Peters, Alan K Percy","doi":"10.1186/s11689-023-09502-z","DOIUrl":"10.1186/s11689-023-09502-z","url":null,"abstract":"<p><strong>Objective: </strong>Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders.</p><p><strong>Methods: </strong>Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2.</p><p><strong>Results: </strong>The top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features.</p><p><strong>Conclusion: </strong>The top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"33"},"PeriodicalIF":4.9,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10571464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41203545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).","authors":"Petrus J de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W Byars, Jennifer Flinn, Tanjala T Gipson, Agnies M van Eeghen, Robert Waltereit, Jamie K Capal, Sebastián Cukier, Peter E Davis, Catherine Smith, J Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J Kumm, Darcy A Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C Jansen","doi":"10.1186/s11689-023-09500-1","DOIUrl":"10.1186/s11689-023-09500-1","url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific.</p><p><strong>Methods: </strong>The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community.</p><p><strong>Results: </strong>At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to \"screen\" for TAND at least annually, to \"act\" using appropriate next steps for evaluation and treatment, and to \"repeat\" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families.</p><p><strong>Conclusions: </strong>The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a \"TAND toolkit\" of \"what to seek\" and \"what to do\" when difficulties are identified in TAND clusters.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"32"},"PeriodicalIF":4.9,"publicationDate":"2023-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10284841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants.","authors":"Ron Nudel,&nbsp;Vivek Appadurai,&nbsp;Alfonso Buil,&nbsp;Merete Nordentoft,&nbsp;Thomas Werge","doi":"10.1186/s11689-023-09499-5","DOIUrl":"10.1186/s11689-023-09499-5","url":null,"abstract":"","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"31"},"PeriodicalIF":4.9,"publicationDate":"2023-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10556583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort.","authors":"Quanfa He, Taylor J Keding, Qi Zhang, Jiacheng Miao, Justin D Russell, Ryan J Herringa, Qiongshi Lu, Brittany G Travers, James J Li","doi":"10.1186/s11689-023-09498-6","DOIUrl":"10.1186/s11689-023-09498-6","url":null,"abstract":"<p><strong>Background: </strong>ADHD polygenic scores (PGSs) have been previously shown to predict ADHD outcomes in several studies. However, ADHD PGSs are typically correlated with ADHD but not necessarily reflective of causal mechanisms. More research is needed to elucidate the neurobiological mechanisms underlying ADHD. We leveraged functional annotation information into an ADHD PGS to (1) improve the prediction performance over a non-annotated ADHD PGS and (2) test whether volumetric variation in brain regions putatively associated with ADHD mediate the association between PGSs and ADHD outcomes.</p><p><strong>Methods: </strong>Data were from the Philadelphia Neurodevelopmental Cohort (N = 555). Multiple mediation models were tested to examine the indirect effects of two ADHD PGSs-one using a traditional computation involving clumping and thresholding and another using a functionally annotated approach (i.e., AnnoPred)-on ADHD inattention (IA) and hyperactivity-impulsivity (HI) symptoms, via gray matter volumes in the cingulate gyrus, angular gyrus, caudate, dorsolateral prefrontal cortex (DLPFC), and inferior temporal lobe.</p><p><strong>Results: </strong>A direct effect was detected between the AnnoPred ADHD PGS and IA symptoms in adolescents. No indirect effects via brain volumes were detected for either IA or HI symptoms. However, both ADHD PGSs were negatively associated with the DLPFC.</p><p><strong>Conclusions: </strong>The AnnoPred ADHD PGS was a more developmentally specific predictor of adolescent IA symptoms compared to the traditional ADHD PGS. However, brain volumes did not mediate the effects of either a traditional or AnnoPred ADHD PGS on ADHD symptoms, suggesting that we may still be underpowered in clarifying brain-based biomarkers for ADHD using genetic measures.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"30"},"PeriodicalIF":4.9,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10514099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.","authors":"J Shane Kippenhan, Michael D Gregory, Tiffany Nash, Philip Kohn, Carolyn B Mervis, Daniel P Eisenberg, Madeline H Garvey, Katherine Roe, Colleen A Morris, Bhaskar Kolachana, Ariel M Pani, Leah Sorcher, Karen F Berman","doi":"10.1186/s11689-023-09493-x","DOIUrl":"10.1186/s11689-023-09493-x","url":null,"abstract":"<p><strong>Background: </strong>Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed \"hypersociability\") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream. We investigated the impacts of hemideletion and haplotype variation of LIMK1, a gene hemideleted in WS and linked to neuronal maturation and migration, on the structure and function of the dorsal stream, specifically the intraparietal sulcus (IPS), a region known to be altered in adults with WS.</p><p><strong>Methods: </strong>We tested for IPS structural and functional changes using longitudinal MRI in a developing cohort of children with WS (76 visits from 33 participants, compared to 280 visits from 94 typically developing age- and sex-matched participants) over the age range of 5-22. We also performed MRI studies of 12 individuals with rare, shorter hemideletions at 7q11.23, all of which included LIMK1. Finally, we tested for effects of LIMK1 variation on IPS structure and imputed LIMK1 expression in two independent cohorts of healthy individuals from the general population.</p><p><strong>Results: </strong>IPS structural (p < 10^-4 FDR corrected) and functional (p < .05 FDR corrected) anomalies previously reported in adults were confirmed in children with WS, and, consistent with an enduring genetic mechanism, were stable from early childhood into adulthood. In the short hemideletion cohort, IPS deficits similar to those in WS were found, although effect sizes were smaller than those found in WS for both structural and functional findings. Finally, in each of the two general population cohorts stratified by LIMK1 haplotype, IPS gray matter volume (p_discovery < 0.05 SVC, p_replication = 0.0015) and imputed LIMK1 expression (p_discovery = 10^-15, p_replication = 10^-23) varied according to LIMK1 haplotype.</p><p><strong>Conclusions: </strong>This work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"29"},"PeriodicalIF":4.9,"publicationDate":"2023-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10492969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample.","authors":"Chimei M Lee, Melody R Altschuler, Amy N Esler, Catherine A Burrows, Rebekah L Hudock","doi":"10.1186/s11689-023-09497-7","DOIUrl":"10.1186/s11689-023-09497-7","url":null,"abstract":"<p><strong>Background: </strong>The Social Communication Questionnaire (SCQ) is a checklist for autism spectrum disorder (ASD) commonly used in research and clinical practice. While the original validation study suggested that the SCQ was an accurate ASD screener with satisfactory sensitivity and specificity, subsequent studies have yielded mixed results, with some revealing low sensitivity, low specificity, and low utility in some settings.</p><p><strong>Method: </strong>The present study examined the psychometric properties of the SCQ as well as the individual difference characteristics of 187 individuals with and without autism spectrum disorder (ASD) who were misclassified or accurately classified by the SCQ in a clinic-referred sample.</p><p><strong>Results: </strong>The SCQ showed suboptimal sensitivity and specificity, regardless of age and sex. Compared to true positives, individuals classified as false positives displayed greater externalizing and internalizing problems, whereas individuals classified as false negatives displayed better social communication and adaptive skills.</p><p><strong>Conclusions: </strong>The findings suggest that non-autistic developmental and behavioral individual difference characteristics may explain high rates of misclassification using the SCQ. Clinicians and researchers could consider using the SCQ in combination with other tools for young children with internalizing and externalizing symptoms and other more complex clinical presentations.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"28"},"PeriodicalIF":4.9,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10118955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory.","authors":"Samantha J Booth, Shruti Garg, Laura J E Brown, Jonathan Green, Gorana Pobric, Jason R Taylor","doi":"10.1186/s11689-023-09492-y","DOIUrl":"10.1186/s11689-023-09492-y","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population.</p><p><strong>Methods: </strong>We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N = 16; mean age: 13.03 years; female: n = 7) to an age/sex-matched typically developing control group (N = 16; mean age: 13.34 years; female: n = 7) using electroencephalography measured during rest and during working memory task performance.</p><p><strong>Results: </strong>Relative to typically developing children, the NF1 group displayed higher resting state slow wave power and a lower peak alpha frequency. Moreover, higher theta power and frontoparietal theta phase coherence were observed in the NF1 group during working memory task performance, but these differences disappeared when controlling for baseline (resting state) activity.</p><p><strong>Conclusions: </strong>Overall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov, NCT03310996 (first posted: October 16, 2017).</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"27"},"PeriodicalIF":4.9,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10173689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis.","authors":"Tono Djuwantono, Jenifer Kiem Aviani, Wiryawan Permadi, Danny Halim, Tri Hanggono Achmad, Meita Dhamayanti","doi":"10.1186/s11689-023-09490-0","DOIUrl":"10.1186/s11689-023-09490-0","url":null,"abstract":"<p><strong>Background: </strong>Subtle abnormalities in children's intelligence, motor skills, and psychology from various assisted reproductive treatments (ARTs) might be underdiagnosed. Understanding the prognosis of intelligence, motor skills, and psychology in children from ART would provide parents with reasonable expectations and enable them to plan relevant support to achieve the optimum potential in ART children.</p><p><strong>Methods: </strong>We searched PubMed, EMBASE, Ovid, Google Scholar, and Scopus databases until April 13, 2021, to identify relevant studies. Thirty-four studies met the inclusion and exclusion criteria. The meta-analysis employed a standardized mean difference model. The outcome of this study is to compare intelligence quotient (IQ), motoric ability, and behavioral problems between all ARTs, in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI) to naturally conceived (NC) children. Subdomains of intelligence based on the Cattell, Horn, and Carroll Model (CHC Model) of cognitive architecture, including fluid reasoning, short-term and working memory, processing speed, visual-spatial ability, long-term memory retrieval, and crystalized intelligence (knowledge), were evaluated and summarized in details. Motor skill was stratified into two domains: gross motoric and fine motoric. Behavioral problem was categorized as externalizing and internalizing behavior.</p><p><strong>Results: </strong>Meta-analysis showed that verbal intelligence score in IVF toddlers is significantly lower than NC toddlers (p = 0.02); conversely, ICSI toddlers scored significantly higher verbal intelligence score compared to NC toddlers (p = 0.005). Toddlers born after ART had significantly lower non-verbal intelligence score (p = 0.047). IVF toddlers scored significantly lower fine motor score (p = 0.01) compared to naturally conceived toddlers. Based on parent's CBCL, NC toddlers had higher total (p = 0.01) and externalizing behavior (p = 0.001) scores  compared to ART toddlers. Evaluation of full scale IQ and all domains of intelligence in preschool and primary school children revealed that no significant differences exist between ART and NC children. Based on preschool and primary school parents' CBCL, IVF children had significantly lower externalizing behavior score compared to NC children (p = 0.04). Meta-analyses of studies on young adolescents revealed that ART young adolescents scored higher academically than their NC counterparts, including on mathematics (p < 0.00001) and reading or language (p < 0.00001).</p><p><strong>Conclusions: </strong>Despite differences in certain aspects, this finding suggests that ART is unlikely to cause negative impacts on children's neurodevelopment.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"26"},"PeriodicalIF":4.9,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10118171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder.","authors":"Ryan J Slaby, C Nikki Arrington, Jeffrey Malins, Rose A Sevcik, Kenneth R Pugh, Robin Morris","doi":"10.1186/s11689-023-09495-9","DOIUrl":"10.1186/s11689-023-09495-9","url":null,"abstract":"<p><strong>Background: </strong>Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders. Individuals with DD or ADHD have both been shown to have deficits in white matter tracts associated with reading and attentional control networks. However, white matter diffusivity in individuals comorbid with both DD and ADHD (DD + ADHD) has not been specifically explored.</p><p><strong>Methods: </strong>Participants were 3^rd and 4^th graders (age range = 7 to 11 years; SD = 0.69) from three diagnostic groups ((DD (n = 40), DD + ADHD (n = 22), and typical developing (TD) (n = 20)). Behavioral measures of reading and attention alongside measures of white matter diffusivity were collected for all participants.</p><p><strong>Results: </strong>DD + ADHD and TD groups differed in mean fractional anisotropy (FA) for the left and right Superior Longitudinal Fasciculus (SLF)-Parietal Terminations and SLF-Temporal Terminations. Mean FA for the DD group across these SLF tracts fell between the lower DD + ADHD and higher TD averages. No differences in mean diffusivity nor significant brain-behavior relations were found.</p><p><strong>Conclusions: </strong>Findings suggest that WM diffusivity in the SLF increases along a continuum across DD + ADHD, DD, and TD.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"25"},"PeriodicalIF":4.1,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10408076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10318928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study.","authors":"Juan Song, Yuyang Yue, Huiqing Sun, Ping Cheng, Falin Xu, Bingbing Li, Kenan Li, Changlian Zhu","doi":"10.1186/s11689-023-09489-7","DOIUrl":"10.1186/s11689-023-09489-7","url":null,"abstract":"<p><strong>Background: </strong>Leukomalacia is a serious form of neonatal brain injury that often leads to neurodevelopmental impairment, and studies on neonatal leukomalacia and its long-term outcomes are lacking. The aim of this study was to analyze the clinical manifestations, imaging features, and long-term neurodevelopmental outcomes in preterm infants and term infants with leukomalacia.</p><p><strong>Methods: </strong>Newborns diagnosed with leukomalacia by head magnetic resonance imaging (MRI) and who were admitted to intensive care units from January 2015 to June 2020 were enrolled. All infants were followed up to June 2022 (2-7 years old), and their neurodevelopmental outcomes were evaluated. The clinical data and long- term outcomes of preterm infants and term infants was analyzed by Chi-square tests.</p><p><strong>Results: </strong>A total of 218 surviving infants with leukomalacia including 114 preterm infants and 104 term infants completed the follow-up. The major typesof leukomalacia on MRI were periventricular leukomalacia in the preterm group and subcortical cystic leukomalacia in the term group, respectively (χ² = 55.166; p < 0.001). When followed up to 2-7 years old, the incidence of neurodevelopmental impairment in the preterm group and term group was not significantly different (χ² = 0.917; p = 0.338). However, the incidence of cerebral palsy (CP) in the preterm group was significantly higher (χ² = 4.896; p = 0.027), while the incidence of intellectual disability (ID) (χ² = 9.445; p = 0.002), epilepsy (EP) (χ² = 23.049; p < 0.001), and CP combined with ID andEP (χ² = 4.122; p = 0.042) was significantly lower than that in the term group.</p><p><strong>Conclusions: </strong>Periventricular leukomalacia mainly occurred in preterm infants while subcortical cystic leukomalacia was commonly seen in term infants. Although the long-term neurodevelopmental outcomes of leukomalacia were both poor, preterm infants were more prone to CP, while term infants were more prone to ID, EP, and the combination of CP with ID and EP.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"15 1","pages":"24"},"PeriodicalIF":4.9,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9965136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}