Developmental Medicine and Child Neurology最新文献_第10页

Psychometric evaluation of the Autism Symptom Dimensions Questionnaire 自闭症症状维度问卷的心理测量评估。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-01-03 DOI: 10.1111/dmcn.16229

{"title":"Psychometric evaluation of the Autism Symptom Dimensions Questionnaire","authors":"","doi":"10.1111/dmcn.16229","DOIUrl":"10.1111/dmcn.16229","url":null,"abstract":"This study re-examined a caregiver-reported measure of autism symptoms called the Autism Symptom Dimensions Questionnaire (ASDQ). The ASDQ was evaluated using two large samples and a small series of children receiving intensive behavioral intervention. The large samples included a national US population sample and a national clinical sample with over-representation of individuals from historically underrepresented backgrounds who were using public insurance. Both samples included young people with autism spectrum disorder (ASD) and young people with non-ASD developmental conditions.The ASDQ was evaluated in terms of its structure, reliability, validity, and sensitivity to change. The first major finding was that the structure of the ASDQ replicated across both large samples and was consistent with prior research. The second major fining was that the ASDQ showed very good reliability, including good ability to measure across low, average, and high score ranges, and good stability of scores across time. The third major finding was that the ASDQ showed moderate to strong associations with other measures of autism symptoms, even when those measures came from different modalities (e.g. clinician observation). The fourth major finding was that the ASDQ had very good ability to screen for ASD in the population sample but had weaker validity for detecting ASD in the clinical sample. The last major finding from the small case series was that the ASDQ showed the ability to detect reliable change in autism symptoms and social communication/interaction behavior in children receiving intensive behavioral intervention.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 3","pages":"e68"},"PeriodicalIF":3.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16229","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928684","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}

引用次数: 0

Psychometric evaluation of a patient-reported outcome measurement information system for use in Duchenne muscular dystrophy 杜氏肌营养不良患者报告结果测量信息系统的心理测量评估。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-01-03 DOI: 10.1111/dmcn.16232

{"title":"Psychometric evaluation of a patient-reported outcome measurement information system for use in Duchenne muscular dystrophy","authors":"","doi":"10.1111/dmcn.16232","DOIUrl":"10.1111/dmcn.16232","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a rare disease that causes muscle weakness and impairs an individual's ability to move. DMD mainly affects males, with symptoms getting worse over time. Healthcare professionals use patient-reported outcomes (questionnaires filled out by patients or their caregivers about the patient's health status) to better understand the impact of a disease from the patient's point of view. When patients are too young to report their own symptoms or status, caregivers may answer on their behalf using proxy versions of the questionnaires.The Patient-Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank is a generic questionnaire that contains 23 items aimed at assessing a patients' ability to move. In this study, the goal was to evaluate how well the PROMIS PP Mobility item bank can assess the ability to move in ambulatory males with DMD.The PROMIS PP Mobility item bank was completed by caregivers of males between 4 years and 12 years of age who have DMD. The study utilized a Rasch analysis, which is a method used to evaluate how well a questionnaire works and how it may be improved for the disease being studied.The Rasch analysis identified several items from the PROMIS PP Mobility item bank that were not relevant for measuring mobility in the population of patients with DMD. In addition, the analysis identified some response options that could be regrouped to make the item bank more reliable and precise in assessing mobility in males with DMD. This resulted in a customized PROMIS PP Mobility item bank that is able to differentiate between patients with different mobility levels. This customized PROMIS PP Mobility item bank may be helpful for healthcare professionals in assessing mobility in males with DMD and may also be useful in both clinical research and guiding clinical care.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 3","pages":"e73"},"PeriodicalIF":3.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16232","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928679","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}

引用次数: 0

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder SLC13A5柠檬酸转运体障碍的发育表型和生活质量。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-01-03 DOI: 10.1111/dmcn.16233

引用次数: 0

Diagnostic accuracy of early neonatal MRI in predicting adverse motor outcomes in children born preterm: Systematic review and meta-analysis. 早期新生儿MRI预测早产儿不良运动预后的诊断准确性：系统回顾和荟萃分析。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-01-02 DOI: 10.1111/dmcn.16216

Karen H Mistry, Roslyn N Boyd, Alex M Pagnozzi, Samudragupta Bora, Robert S Ware, Joanne M George

{"title":"Diagnostic accuracy of early neonatal MRI in predicting adverse motor outcomes in children born preterm: Systematic review and meta-analysis.","authors":"Karen H Mistry, Roslyn N Boyd, Alex M Pagnozzi, Samudragupta Bora, Robert S Ware, Joanne M George","doi":"10.1111/dmcn.16216","DOIUrl":"https://doi.org/10.1111/dmcn.16216","url":null,"abstract":"Aim: To examine the diagnostic accuracy of Early structural and diffusion-weighted magnetic resonance imaging (MRI) (acquired at < 36 weeks postmenstrual age) to detect cerebral palsy (CP) or other adverse motor outcomes at or beyond 3 years corrected age in infants born preterm.Method: In this systematic review and meta-analysis, we searched the CINAHL, Embase, PubMed, and Web of Science databases for studies without language restrictions and a prospectively registered protocol up to October 2023. We extracted the study details, associations presented, and meta-analyses conducted with pooled sensitivity and specificity.Results: Twenty-seven articles met the overall inclusion criteria. White matter injury, cerebellar haemorrhage, intraventricular haemorrhage, and lower thalamic volume were associated with poorer motor outcomes. Abnormal Early structural MRI detected infants with a later diagnosis of CP (n = 448, eight studies) with a pooled sensitivity of 98% (95% confidence interval [CI] = 86-100), specificity of 75% (95% CI = 51-93), and adverse motor outcomes (n = 215, four studies), with a pooled sensitivity of 39% (95% CI = 20-59) and a specificity of 90% (95% CI = 88-94).Interpretation: Early abnormal structural MRI predicted later CP with high sensitivity and specificity, while specificity was higher than sensitivity in predicting adverse motor outcomes using the Movement Assessment Battery for Children, Second Edition. Further research into diagnostic accuracy and association between Early MRI and long-term motor outcomes is warranted.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Measuring what really matters: Why developing patient-reported outcome measures in Duchenne muscular dystrophy should involve patients and caregivers. 衡量真正重要的东西：为什么制定杜兴氏肌肉萎缩症患者报告结果衡量标准时要让患者和护理人员参与其中？

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-31 DOI: 10.1111/dmcn.16225

Sebastian Friedrich, Gudrun Reeskau, Joachim Sproß, Thorsten Langer

引用次数: 0

Early detection of cerebral palsy in low- and middle-income countries: Challenges for implementation in clinical practice. 低收入和中等收入国家早期发现脑瘫：在临床实践中实施的挑战。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-28 DOI: 10.1111/dmcn.16213

Adriana Dos Santos

引用次数: 0

Prediction of cerebral palsy and cognitive delay among high-risk children in a developing nation: A successful early detection programme. 发展中国家高危儿童脑瘫和认知迟缓的预测：一个成功的早期发现计划。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-28 DOI: 10.1111/dmcn.16197

Gemunu Hewawitharana, Nuwan Darshana Ila, Asha Madhushani Ui, Sadeepi Chathuranga Dp, Nirosha Priyangika DI, Bimba Hewawitharana, Champa Wijesinghe, Piyadasa Kodituwakku, John Phillips

{"title":"Prediction of cerebral palsy and cognitive delay among high-risk children in a developing nation: A successful early detection programme.","authors":"Gemunu Hewawitharana, Nuwan Darshana Ila, Asha Madhushani Ui, Sadeepi Chathuranga Dp, Nirosha Priyangika DI, Bimba Hewawitharana, Champa Wijesinghe, Piyadasa Kodituwakku, John Phillips","doi":"10.1111/dmcn.16197","DOIUrl":"https://doi.org/10.1111/dmcn.16197","url":null,"abstract":"Aim: To determine the feasibility of combining the Hammersmith Infant Neurological Examination (HINE) and General Movements Assessment (GMA) within a standard follow-up schedule to predict developmental outcomes in infants at risk in low- and middle-income countries (LMICs).Method: A total of 201 Sri Lankan infants (128 male, 73 female) were prospectively assessed with the GMA before 44 weeks (writhing movements) and at 3 to 4 months (fidgeting movements), followed by the HINE at 5 to 6 months. Developmental outcomes were assessed using the Bayley Scales of Infant and Toddler Development, Fourth Edition and clinical assessment after 24 months.Results: The sensitivity of predicting cerebral palsy (CP) was lower with a single GMA assessment (writhing 89.5%, fidgeting 94.7%) or HINE (89.5%) compared to all three assessments combined (sensitivity 100%, 95% confidence interval [CI] = 82.4-100.0). The GMA and HINE were less predictive of non-CP-related developmental delays, particularly when single assessments were used (< 65% for all domains) compared to all three assessments combined (motor sensitivity > 86.9%, 95% CI = 66.4-97.2; cognitive sensitivity > 86.7%, 95% CI = 69.3-96.2; social-emotional sensitivity > 83.3%, 95% CI = 65.3-94.4). Specificity was lower for the prediction of CP-related (40.1%) and non-CP-related developmental delays (< 46.0% for all).Interpretation: In an LMIC such as Sri Lanka, with limited access to specialist care and neuroimaging, combining two GMA measures and the HINE identified most infants with CP-related and non-CP-related developmental delay, thereby allowing targeted early intervention therapies.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Motor abilities in adults born with very low birthweight: A study of two birth cohorts from Finland and Norway 出生体重极低的成年人的运动能力：芬兰和挪威两个出生队列的研究。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-22 DOI: 10.1111/dmcn.16221

{"title":"Motor abilities in adults born with very low birthweight: A study of two birth cohorts from Finland and Norway","authors":"","doi":"10.1111/dmcn.16221","DOIUrl":"10.1111/dmcn.16221","url":null,"abstract":"In this study of two birth cohorts from Finland and Norway, the ‘Helsinki Study of Very Low Birth Weight Adults’ and the ‘NTNU Low Birth Weight in a Lifetime Perspective’ cohorts, the authors investigated motor abilities in adults born preterm (<37 weeks' gestation) with very low birthweight (VLBW; birthweight ≤1500 grams). Previous studies have shown that children, adolescents, and young adults born preterm are more likely to experience motor difficulties than their peers. However, it has not been clear if these difficulties persist later in adulthood.A total of 118 participants born with VLBW and 147 participants born at term were included. Four motor tests were used to measure different aspects of motor function at the mean age of 36 years. The results showed that the adults born preterm with VLBW scored poorer on all motor tests compared with controls, especially on timed performances and tasks demanding speed. The results were similar when factors that might influence motor abilities were considered, such as height, handedness, parental education, and neurosensory impairments (cerebral palsy, blindness, deafness or hearing aid, and/or intellectual disability).","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 2","pages":"e54"},"PeriodicalIF":3.8,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16221","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878319","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}

引用次数: 0

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder. SLC13A5柠檬酸转运体障碍的发育表型和生活质量。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-22 DOI: 10.1111/dmcn.16218

Can Ozlu, Raegan M Adams, Rayann M Solidum, Sydney Cooper, Carrie R Best, Jennifer Elacio, Brian C Kavanaugh, Emily M Spelbrink, Tanya L Brown, Kimberly Nye, Judy S Liu, Rachel M Bailey, Kimberly Goodspeed, Brenda E Porter

{"title":"Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.","authors":"Can Ozlu, Raegan M Adams, Rayann M Solidum, Sydney Cooper, Carrie R Best, Jennifer Elacio, Brian C Kavanaugh, Emily M Spelbrink, Tanya L Brown, Kimberly Nye, Judy S Liu, Rachel M Bailey, Kimberly Goodspeed, Brenda E Porter","doi":"10.1111/dmcn.16218","DOIUrl":"https://doi.org/10.1111/dmcn.16218","url":null,"abstract":"Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation. Patient-specific scores were stable across visits with evidence of modest gains in early childhood and static skills in adolescence and adulthood.Interpretation: There is a poor prognosis in terms of multiple measures of age-appropriate development.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy. 婴儿猝死、儿童期不明原因猝死、癫痫猝死。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-22 DOI: 10.1111/dmcn.16226

Suvasini Sharma, Robyn Whitney, Sayoni Roy Chowdhury, Rajesh Ramachandrannair

{"title":"Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy.","authors":"Suvasini Sharma, Robyn Whitney, Sayoni Roy Chowdhury, Rajesh Ramachandrannair","doi":"10.1111/dmcn.16226","DOIUrl":"https://doi.org/10.1111/dmcn.16226","url":null,"abstract":"Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID). In older children, a less understood phenomenon known as sudden unexplained death in childhood (SUDC) has garnered attention. Additionally, sudden unexpected death in epilepsy (SUDEP) constitutes a rare but recognized complication of epilepsy. Recent investigations indicate overlapping clinical, neuropathological, and genetic characteristics among SUID, SUDC, and SUDEP. Common features include death occurring during sleep, discovery in the prone position, hippocampal abnormalities, and genetic variations associated with epilepsy or cardiac arrhythmias. Notably, video recordings in certain examples of SUDC have captured 'convulsive' episodes preceding death in children without prior seizure history, suggesting that seizures may contribute more significantly to sudden paediatric deaths than previously presumed. This review explores these shared elements, underscoring their importance in formulating possible preventative measures against these devastating conditions.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0