Developmental Medicine and Child Neurology最新文献_第8页

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

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

Optimizing the lived experience of children with disabilities: The therapist's role. 优化残疾儿童的生活体验：治疗师的角色。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-22 DOI: 10.1111/dmcn.16220

Margaret Mayston

引用次数: 0

Benevolent ableism is still ableism: Objectification and 'inspiration porn'. 善意的残疾歧视仍然是残疾歧视：物化和“灵感色情”。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-19 DOI: 10.1111/dmcn.16211

Bernard Dan

引用次数: 0

Psychometric evaluation of the PROMIS parent proxy mobility item bank for use in Duchenne muscular dystrophy. 在杜氏肌营养不良症中应用PROMIS父母代理活动能力题库的心理测量学评价。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-19 DOI: 10.1111/dmcn.16198

Linda Pax Lowes, Corinne M Le Reun, Lindsay N Alfano, Natalie F Reash, Megan A Iammarino, Shivangi Patel, Ivana F Audhya

{"title":"Psychometric evaluation of the PROMIS parent proxy mobility item bank for use in Duchenne muscular dystrophy.","authors":"Linda Pax Lowes, Corinne M Le Reun, Lindsay N Alfano, Natalie F Reash, Megan A Iammarino, Shivangi Patel, Ivana F Audhya","doi":"10.1111/dmcn.16198","DOIUrl":"https://doi.org/10.1111/dmcn.16198","url":null,"abstract":"Aim: To evaluate the psychometric properties and measurement quality of the Patient-Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis.Method: De-identified PROMIS PP Mobility items were completed by the caregivers of male patients with DMD, aged 4 to 12 years, as part of standard clinical care at the Nationwide Children's Hospital clinic; data were mined retrospectively from electronic health records. Rasch analysis was used to assess the internal functioning of the measure and items.Results: Overall, 151 observations were available for the Rasch analysis, equally split between patients aged 4 to 7 years and 8 to 12 years. After removing clinically irrelevant items and regrouping response options for specific items, the resulting 19-item measure demonstrated overall good fit to Rasch model expectations and the ability to discriminate between respondents with different mobility levels (Person Separation Index = 0.95, excellent reliability).Interpretation: The customized PROMIS PP Mobility measure demonstrated good fit and may be a reliable option for mobility assessment in children with DMD. Rasch analysis can be used by other researchers to improve the sensitivity of patient-reported outcomes in their field of interest.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856517","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

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 : 2024-12-19 DOI: 10.1111/dmcn.16200

Thomas W Frazier, Anastasia Dimitropoulos, Leonard Abbeduto, Melissa Armstrong-Brine, Shanna Kralovic, Andy Shih, Antonio Y Hardan, Eric A Youngstrom, Mirko Uljarević

{"title":"Psychometric evaluation of the Autism Symptom Dimensions Questionnaire.","authors":"Thomas W Frazier, Anastasia Dimitropoulos, Leonard Abbeduto, Melissa Armstrong-Brine, Shanna Kralovic, Andy Shih, Antonio Y Hardan, Eric A Youngstrom, Mirko Uljarević","doi":"10.1111/dmcn.16200","DOIUrl":"https://doi.org/10.1111/dmcn.16200","url":null,"abstract":"Aim: To replicate and extend previous psychometric findings for the Autism Symptom Dimensions Questionnaire (ASDQ).Method: Using a cross-sectional design in two samples, including a total of 3366 children and adolescents (aged 2-17 years; 1399 with autism spectrum disorder) and a small case series, factor structure, measurement invariance, reliability, construct validity, screening and diagnostic efficiency, and detection of reliable change were examined for the ASDQ.Results: Strong psychometric properties were observed, including replicable factor structure, strong measurement invariance, adequate-to-excellent scale and conditional reliability, strong convergent and discriminant validity, and good screening efficiency. Importantly, two crucial measurement aspects required for a good treatment outcome measure were found, that is, good test-retest stability and the potential to detect reliable change. As expected for an informant-reported questionnaire, diagnostic efficiency was weak.Interpretation: The ASDQ showed evidence of favorable and well-replicated psychometric properties in two samples. Good screening but weak diagnostic efficiency, coupled with good test-retest stability, suggest that optimal clinical use is in screening and in detailed clinical characterization beyond what is offered by current informant-reported measures, with the potential for monitoring response to intervention. Despite relative brevity, the ASDQ provides good coverage of broad and specific aspects of the autism behavioral phenotype, which is consistent with the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856515","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

Improving precision in physical activity measurement in developmental coordination disorder research. 提高发育协调障碍研究中体育活动测量的精确度。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-17 DOI: 10.1111/dmcn.16217

Emmanuel Bonney

引用次数: 0

Natural history of SGCE-associated myoclonus dystonia in children and adolescents. 儿童和青少年sgce相关肌阵挛性肌张力障碍的自然历史。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-16 DOI: 10.1111/dmcn.16214

Valeria De Francesch, Ana Cazurro-Gutiérrez, Elze R Timmers, Gemma Español-Martín, Julia Ferrero-Turrión, David Gómez-Andrés, Anna Marcé-Grau, Lucía Dougherty-de Miguel, Victoria González, Antonio Moreno-Galdó, Marina A J Tijssen, Belén Pérez-Dueñas

{"title":"Natural history of SGCE-associated myoclonus dystonia in children and adolescents.","authors":"Valeria De Francesch, Ana Cazurro-Gutiérrez, Elze R Timmers, Gemma Español-Martín, Julia Ferrero-Turrión, David Gómez-Andrés, Anna Marcé-Grau, Lucía Dougherty-de Miguel, Victoria González, Antonio Moreno-Galdó, Marina A J Tijssen, Belén Pérez-Dueñas","doi":"10.1111/dmcn.16214","DOIUrl":"https://doi.org/10.1111/dmcn.16214","url":null,"abstract":"Aim: To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood.Method: Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models. Psychiatric features were evaluated cross-sectionally in the Spanish cohort.Results: Thirty-eight patients (21 males, 17 females) were evaluated at a mean age (SD) of 10 years (4 years 7 months; range 2-21 years) and 14 years 2 months (4 years 8 months; range 4-25 years). We observed a significant worsening of action myoclonus, global dystonia, and dystonia during writing (mean annual increases of 1.356, 0.226, and 0.518 in the Unified Myoclonus, Burke-Fahn-Marsden, and Writer's Cramp Rating Scales respectively). Accordingly, participants perceived a significant worsening in their speech, writing, and walking abilities. Twenty-six of 32 participants suffered from anxiety (n = 13), obsessive-compulsive disorder (n = 9), and attention-deficit/hyperactivity disorder (n = 8).Interpretation: This study demonstrates that, unlike in the adult population, myoclonus dystonia syndrome in childhood and adolescence follows a progressive course that can be debilitating in the early stages of life. These findings, along with a high prevalence of psychiatric symptoms, highlight the need for early therapeutic interventions to prevent long-term motor and psychological sequelae.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830768","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

Experiences of participation in daily life of adolescents and young adults with cerebral palsy: A scoping review. 患有脑瘫的青少年参与日常生活的经历：范围综述。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2024-12-14 DOI: 10.1111/dmcn.16196

Stacey L Cleary, Prue E Morgan, Margaret Wallen, Ingrid Honan, Nora Shields, Freya E Munzel, James R Plummer, Cassandra Assaad, Petra Karlsson, Evelyn Culnane, Jacqueline Y Ding, Carlee Holmes, Iain M Dutia, Dinah S Reddihough, Christine Imms

{"title":"Experiences of participation in daily life of adolescents and young adults with cerebral palsy: A scoping review.","authors":"Stacey L Cleary, Prue E Morgan, Margaret Wallen, Ingrid Honan, Nora Shields, Freya E Munzel, James R Plummer, Cassandra Assaad, Petra Karlsson, Evelyn Culnane, Jacqueline Y Ding, Carlee Holmes, Iain M Dutia, Dinah S Reddihough, Christine Imms","doi":"10.1111/dmcn.16196","DOIUrl":"https://doi.org/10.1111/dmcn.16196","url":null,"abstract":"Aim: To synthesize the experiences of 15- to 34-year-olds with cerebral palsy (CP) as they participate in key life situations of young adulthood.Method: A mixed-methods scoping review was undertaken and six electronic databases searched (January 2001 to August 2023). Participation foci and thematic outcomes were mapped to the International Classification of Functioning, Disability and Health. Results were integrated using a convergent integrated analysis framework, and data analysis completed through thematic synthesis. Themes were mapped to the family of Participation-Related Constructs.Results: Thirty-eight publications (32 studies; 2759 participants) were included. More participants were male (n = 1435), walked independently (n = 1319), and lived with their families (n = 1171). 'Claiming my adulthood and \"doing\" life' was the unifying descriptor of participation, conveying the effortful work young people felt necessary to take their places in the adult world. The physical accessibility of the environment was a significant barrier to participation, as were people's negative attitudes or misconceptions about disability. A close-knit 'circle of support', typically family members, formed a supportive foundation during this period.Interpretation: Young people with CP aim to participate fully in adult life, alongside their peers. Improved community accessibility, inclusion, and more supportive health environments would ensure they could live the lives they choose.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824786","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