Developmental Medicine and Child Neurology最新文献

{"title":"Psychometric properties of the Alberta Infant Motor Scale and culturally adapted or translated versions when used for infant populations internationally: A systematic review.","authors":"Bianca Mendonça, Michael Kong, Alison Coombs, Lynn Kysh, Barbara Sargent","doi":"10.1111/dmcn.16070","DOIUrl":"https://doi.org/10.1111/dmcn.16070","url":null,"abstract":"<p><strong>Aim: </strong>To systematically review the psychometric properties of the Alberta Infant Motor Scale (AIMS) when used for infant populations internationally, defined as infants not living in Canada, where the normative sample was established.</p><p><strong>Method: </strong>Seven databases were searched for studies that informed the psychometric properties of the AIMS and culturally adapted or translated versions in non-Canadian infant cohorts.</p><p><strong>Results: </strong>Forty-nine studies reported results from 11 663 infants representing 22 countries. Country-specific versions of the AIMS are available for Brazilian, Polish, Serbian, Spanish, and Thai infant cohorts. Country-specific norms were introduced for Brazilian, Dutch, Polish, and Thai cohorts. The original Canadian norms were appropriate for Brazilian, Greek, and Turkish cohorts. Across countries, the validity, reliability, and responsiveness of the AIMS was generally sufficient, except for predictive validity. Sufficient structural validity was found in one study, responsiveness in one study, discriminant validity in four of four studies, concurrent validity in 14 of 16 studies, reliability in 26 of 26 studies, and predictive validity in only eight of 13 studies.</p><p><strong>Interpretation: </strong>The use of the AIMS with validated versions and norms is recommended. The AIMS or country-specific versions should be used with caution if norms have not been validated within the specific cultural context.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134363","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}

{"title":"Causal pathways of cerebral palsy in individuals with congenital anomalies: A cardiologist's perspective.","authors":"Mads Damkjær","doi":"10.1111/dmcn.16077","DOIUrl":"https://doi.org/10.1111/dmcn.16077","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134360","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}

{"title":"Major structural congenital anomalies and causal pathways in people with cerebral palsy.","authors":"Susan M Reid, Gina L Hinwood, Angela T Guzys, Rod W Hunt, Dinah S Reddihough","doi":"10.1111/dmcn.16073","DOIUrl":"https://doi.org/10.1111/dmcn.16073","url":null,"abstract":"<p><strong>Aim: </strong>To determine the proportion of persons with cerebral palsy (CP) with major congenital anomalies, factors associated with the presence of anomalies, body systems involved, potential contribution to CP aetiology, and causal pathway subgroups implicated.</p><p><strong>Method: </strong>This population-based, observational study involved a cohort of 2238 persons born in one Australian state between 1999 and 2017. Major congenital anomalies were classified as affecting cerebral, cardiac, or other body systems, with further categorization as single or multisystem. We determined the potential for anomalies to contribute to the development of CP across causal pathway subgroups that were broadly categorized as developmental or involving destructive brain insults.</p><p><strong>Results: </strong>Of persons with CP, 23% had major congenital anomalies and 17% of the cohort had anomalies that potentially contributed to the development of CP. Consistent with higher odds of parental consanguinity, maternal grand multiparity, and dysmorphic features in the group with anomalies, 82% of pathogenic anomalies, present in 14% of the cohort, were cerebral and involved developmental causal pathways. Only 3% (predominantly severe cardiac anomalies) were related to destructive brain insults.</p><p><strong>Interpretation: </strong>The study provides context for the impact on rates of CP of preventive measures or other changes in incidence or management of congenital anomalies.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134361","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}

{"title":"Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1.","authors":"Federica Trucco, Emilio Albamonte, Marika Pane, Federica Ricci, Adele D'amico, Guja Astrea, Isabella Moroni, Antonella Pini, Chiara Fiorillo, Angela Berardinelli, Nicholas E Johnson, Valeria A Sansone","doi":"10.1111/dmcn.16079","DOIUrl":"https://doi.org/10.1111/dmcn.16079","url":null,"abstract":"<p><strong>Aim: </strong>To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.</p><p><strong>Method: </strong>This was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.</p><p><strong>Results: </strong>A total of 139 children followed by 12 highly specialized tertiary care neuromuscular centres in Italy and one tertiary neuromuscular centre in the USA were included: 105 children with CDM and 34 children with ChDM (mean age 8 years 8 months and 12 years 2 months respectively; 49 males and 17 males respectively). Seventy (50%) parents were diagnosed with adult-onset DM1 after the affected child was diagnosed. Only 12 (17%) of the 69 parents known to be affected had prenatal testing. Of the 105 children with CDM, 98% had maternally inherited CDM, 36% were born preterm, 83% required a stay in the neonatal intensive care unit for more than 48 hours, 84% and 79% had ambulation and speech delay, and 84% had an IQ lower than 70. Of the 34 children with ChDM, 59% had paternally inherited ChDM, 91% were born at term, and 36% had an IQ lower than 70.</p><p><strong>Interpretation: </strong>Delay in diagnosing DM1 affects family planning. The prenatal and perinatal outcomes of the affected offspring emphasize the need for proactive counselling as parents may be reluctant to conduct prenatal testing.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134362","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}

{"title":"Genetic investigations in cerebral palsy.","authors":"Anna P Basu, Karen Low, Thiloka Ratnaike, David Rowitch","doi":"10.1111/dmcn.16080","DOIUrl":"https://doi.org/10.1111/dmcn.16080","url":null,"abstract":"<p><p>The original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between environmental impact on brain development and CP, recent studies indicate an 11% to 40% incidence of monogenic conditions in patients given a diagnosis of CP. A genetic diagnosis supports the delivery of personalized medicine. In this review, we describe how the Wnt pathway exemplifies our understanding of pathophysiology related to a gene variant (CTNNB1) found in some children diagnosed with CP. We cover studies undertaken to establish the baseline prevalence of monogenic conditions in populations attending CP clinics. We list factors indicating increased likelihood of a genomic diagnosis; and we highlight the need for a comprehensive, accurate, genotype-phenotype reference data set to aid variant interpretation in CP cohorts. We also consider the wider societal implications of genomic management of CP including significance of the diagnostic label, benefits and pitfalls of a genetic diagnosis, logistics, and cost.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114407","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}

{"title":"Identificação de ingredientes de intervenções não invasivas para crianças deambuladoras com paralisia cerebral usando as minhas palavras favoritas: uma revisão de escopo.","authors":"Hércules Ribeiro Leite, Ricardo Rodrigues de Sousa Junior, Deisiane Oliveira Souto, Jaíza Marques Medeiros E Silva, Arthur Felipe Barroso de Lima, Carolyne de Miranda Drumond, Eliane Beatriz Cunha Policiano, Ariane Cristina Marques, Paula Silva de Carvalho Chagas, Egmar Longo","doi":"10.1111/dmcn.16078","DOIUrl":"https://doi.org/10.1111/dmcn.16078","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114408","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}

{"title":"F-words ingredients of non-invasive interventions for young ambulant children with cerebral palsy: A scoping review.","authors":"Hércules Ribeiro Leite, Ricardo Rodrigues de Sousa Junior, Deisiane Oliveira Souto, Jaíza Marques Medeiros E Silva, Arthur Felipe Barroso de Lima, Carolyne de Miranda Drumond, Eliane Beatriz Cunha Policiano, Ariane Cristina Marques, Paula Silva de Carvalho Chagas, Egmar Longo","doi":"10.1111/dmcn.16074","DOIUrl":"https://doi.org/10.1111/dmcn.16074","url":null,"abstract":"<p><strong>Aim: </strong>To map the ingredients of non-invasive interventions provided to young ambulant children with cerebral palsy.</p><p><strong>Method: </strong>Articles were screened and each study's characteristics extracted. The intervention ingredients were described in terms of the Rehabilitation Treatment Specification System and linked to the 'F-words'. Results were interpreted and validated by a patient and public involvement group.</p><p><strong>Results: </strong>Sixty-one papers were included, of which 55.5% were classified as randomized controlled trial design studies. The selected studies included a total of 2187 children (mean age range 3 months to 5 years 11 months), most from high-income countries. The included studies investigated a total of 27 interventions, which together presented ingredients representing all F-words, in the following order of frequency: 'fitness' (e.g. strength and endurance training), 'functioning' (e.g. active and repetitive practice of a task), 'family' (e.g. context-focused therapy), 'fun' (e.g. inclusion of child-friendly activities), 'friends' (e.g. group activities), and 'future' (e.g. didactic information sharing). Thus, ingredients related to the F-word 'future' were the most infrequently reported.</p><p><strong>Interpretation: </strong>Therapists and families need to be aware of the most appropriate match between the F-word goals, ingredients, and targets. Finally, 'fun', 'friends', and 'future' should be addressed as potential outcomes in future studies.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074472","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}

{"title":"Neonatal therapy principles during transition from neonatal intensive care unit to home: A modified Delphi study.","authors":"Kerry Miller, Sandra Willett, Dana Mccarty, Stacey C Dusing","doi":"10.1111/dmcn.16075","DOIUrl":"https://doi.org/10.1111/dmcn.16075","url":null,"abstract":"<p><strong>Aim: </strong>To establish expert consensus on key principles for therapist-supported interventions supporting infants born preterm and their families during the transition from neonatal intensive care unit (NICU) to home in the USA.</p><p><strong>Method: </strong>A diverse, interdisciplinary panel of experts evaluated the use of key intervention principles. A modified Delphi technique was used to seek opinions from independent and relevant interdisciplinary experts on the clarity of terminology, efficacy, and feasibility of implementing these intervention principles during the NICU-to-home transition.</p><p><strong>Results: </strong>After our team consensus, one round of surveys was required to reach expert consensus. Twenty-four experts, representing a variety of disciplines, responded to the survey. Results showed strong consensus on four key therapist-supported interventions: building caregiver-child relationships; optimizing infant development; education and knowledge sharing; and enriched environments.</p><p><strong>Interpretation: </strong>This research provides valuable insights into key therapist-supported interventions that may be used during the NICU-to-home transition to address the needs of high-risk infants and the well-being of their families. Findings will inform the development of streamlined and effective interventions, improving child and family outcomes during this critical transition period.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074473","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}

{"title":"Autism screening is critical for the most vulnerable children.","authors":"Thomas Frazier","doi":"10.1111/dmcn.16043","DOIUrl":"https://doi.org/10.1111/dmcn.16043","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009877","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}

{"title":"Autism screening and diagnostic outcomes among toddlers born preterm.","authors":"Taralee Hamner, Georgina Perez Liz, Kiva Kelly, Sarah Nanovic, Renee Turchi, Deborah Fein, Diana L Robins","doi":"10.1111/dmcn.16045","DOIUrl":"https://doi.org/10.1111/dmcn.16045","url":null,"abstract":"<p><strong>Aim: </strong>To examine the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), with follow-up screening and diagnostic outcomes for children born preterm. A secondary aim was to examine diagnostic evaluation attendance after screening to inform clinical practice.</p><p><strong>Method: </strong>Using a cross-sectional design, 9725 toddlers (4951 males; 4774 females) whose gestational age was reported were screened at 15-month, 18-month, or 24-month well-child visits; screen-positive children were invited for an autism evaluation. Screening measure performance and diagnostic outcomes were evaluated according to preterm classification (Screening: n_ExtPreterm = 111; n_VeryPreterm = 186; n_ModPreterm = 1122; n_FullTerm = 8306; Evaluation: n_ExtPreterm = 27; n_VeryPreterm = 21; n_ModPreterm = 86; n_FullTerm = 301).</p><p><strong>Results: </strong>Screen-positive rates were highest for children born extremely preterm (51.35%) and lowest for children born at term (6.95%). Evaluation attendance for screen-positive cases did not differ according to preterm classification. Rates of autism diagnoses differed depending on preterm birth status: for children born extremely preterm, it was 16.05%; for children born very preterm, it was 2.00%; for children born moderately preterm, it was 2.89%; and for children born at term, it was 1.49%. M-CHAT-R/F sensitivity decreased with increasing gestational age, whereas specificity improved with increasing gestational age. Positive predictive value was highest for children born extremely preterm and children born at term. Negative predictive value was consistently strong across all groups. The likelihood ratio for positive screening increased with gestational age.</p><p><strong>Interpretation: </strong>The sensitivity and specificity of the M-CHAT-R/F are acceptable in toddlers born preterm. Autism screening-positive rates and prevalence increased with earlier preterm birth. Those born extremely preterm showed the greatest likelihood of an autism diagnosis; screening should not be delayed based on adjusted age.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009876","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}