Developmental Medicine and Child Neurology最新文献

{"title":"Zen and the art of clinical discourse","authors":"Martin Gough","doi":"10.1111/dmcn.16347","DOIUrl":"10.1111/dmcn.16347","url":null,"abstract":"<p>The question ‘Where does my fist go when I open my hand?’ may initially seem trivial but was posed by Alan Watts<span><sup>1</sup></span> to highlight how we often consider actions or processes as things. Is this relevant to clinical practice?</p><p>A discourse can be considered as an underlying shared framework within which a particular statement or concept has meaning and is considered acceptable. The French philosopher Michel Foucault distinguished between practical knowledge in a discourse (which he termed ‘savoir’) and theoretical knowledge (or ‘connaissance’). He argued for a close relationship between what we are able to do within a discourse, which he termed power (‘pouvoir’), and what we actually do. In the words of Gayatri Chakravorty Spivak, ‘if the lines of making sense of something are laid down in a certain way, then you are able to do only those things with that something which are possible within and by the arrangement of those lines. Pouvoir-savoir – being able to do something only as you are able to make sense of it.’<span><sup>2</sup></span> Foucault viewed discourse as a way of interpreting and managing reality, as ‘a violence which we do to things … a practice which we impose upon them’<span><sup>3</sup></span> but accepted the need to practise within a discourse as we cannot communicate effectively without one.</p><p>Our clinical discourse includes concepts such as cerebral palsy, participation, lived experience, function, impairment, deformity, tone and spasticity. These terms have a generally accepted meaning within the discourse and are often considered as independent entities rather than as interrelated outcomes of underlying shared biological, psychological, and social processes. If we were to look for a correlation between deformity and participation, for example, we would be likely to find one as these are not independent variables but are outcomes of shared underlying processes. Alternatively, if we were to consider muscle tone or spasticity as independent entities and as targets for intervention, we would miss the opportunity to consider and understand the underlying processes of which they are outcomes.</p><p>Gilles Deleuze, another French philosopher, saw reality as consisting of a problematic field within which solutions emerge as outcomes.<span><sup>4</sup></span> From this perspective, participation could be considered as an outcome or solution emerging from the problem posed by factors including a person's cognitive and physical development, the social environment in which they are located, and their own interests. Similarly, activities such as walking would not be seen in a normative manner as independent entities needing intervention and improvement, but instead would be viewed as a child or adult's individual strategy or solution to a problem posed by their particular neurological and musculoskeletal development and by their physical and social environment.</p><p>It can be argued that although such an ap","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16347","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056262","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":"Executive function and bimanual performance in children with unilateral cerebral palsy","authors":"","doi":"10.1111/dmcn.16336","DOIUrl":"10.1111/dmcn.16336","url":null,"abstract":"<p>Children with unilateral cerebral palsy (CP) experience motor difficulties mainly on one side of their body, affecting activities that require both hands (i.e. bimanual). Some of these children also exhibit impairments in executive functions, which are mental processes regulating daily behavior. Such impairments commonly appear in attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). This study explores the relation between executive functions in daily life and bimanual function in unilateral CP, while accounting for the role of co-occurring conditions.</p><p>Forty-six children (ages 7–15 years) with unilateral CP were classified based on manual ability using the Manual Ability Classification System: 25 at level I (handle objects easily), 15 at level II (handle most objects with reduced quality/speed), and six at level III (handle objects with difficulty, requiring assistance). Bimanual function was assessed with a test requiring bimanual activity and a parent-rated questionnaire, and executive function with a parent-rated questionnaire. Information on co-occurring conditions categorized participants by diagnoses of intellectual disability, ADHD, or ASD. Executive functions were compared to general population scores in all participants, and in subgroups excluding participants with co-occurring intellectual disability, ADHD, or ASD. The study also explored whether executive function differs depending on manual ability levels and ASD diagnosis. Lastly, the relation between executive function and bimanual function was examined.</p><p>Executive function difficulties were more common in children with unilateral CP (37%) compared to the general population (15.9%). Excluding those with intellectual disability or ADHD did not change the results, while excluding those with ASD made executive function scores comparable to the general population. Executive function seemed poorer in children with poorer manual ability. Lastly, relations were found between the two parent-rated questionnaires for bimanual function and executive function.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16336","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023482","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":"A familial modeling framework for advancing precision medicine for children with neuropsychiatric disorders","authors":"","doi":"10.1111/dmcn.16335","DOIUrl":"https://doi.org/10.1111/dmcn.16335","url":null,"abstract":"<p>Children with Noonan syndrome experience cognitive challenges and symptoms of attention-deficit/hyperactivity disorder (ADHD), anxiety, and depression. Children also have differences in brain structure and function. All the above are attributed to the genetic changes that cause Noonan syndrome. Yet there is a great variability in terms of the level of a child's symptoms which makes it difficult for parents and clinicians to predict a child's outcome and plan treatment. Aside from the genetic changes causing Noonan syndrome, parents share genetic information and experiences with their children. Given this knowledge, the present study utilized parent cognitive and behavioural traits to predict a child's corresponding traits.</p><p>Results indicated that parent cognition predicted a child's cognition. A parent's level of depression, anxiety, and ADHD symptoms also predicted child outcomes in corresponding domains. Utilizing parent traits allowed for more precise prediction of corresponding child outcomes than when parent traits were not used. Parent cognition was also significantly associated with child's brain structure which was measured using magnetic resonance imaging. Since brain structure represents cumulative effects of brain development, this evidence suggests that a parent's cognition influences a child's brain development. Understanding how parent traits influence brain development will help tease apart the effects of shared factors such as genetics and environment, and unique factors such as Noonan syndrome genetic changes.</p><p>Current care for children with Noonan syndrome follows the same watchful, waiting approach used for other disorders like ADHD. While not typically included in diagnostic testing, measuring parent traits is a multidimensional, noninvasive method that can add information regarding expected outcomes that is useful for parents and clinicians. Predictive modeling (employing statistics to predict outcomes) using parent traits may also be useful clinically in other disorders and, with future research, this framework can help advance a precision medicine approach which involves individualized treatment utilizing information about each patient.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 6","pages":"e117"},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16335","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143939328","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":"Bio-psycho-social factors and participation in adults with developmental coordination disorder: A structural equation modeling analysis","authors":"","doi":"10.1111/dmcn.16332","DOIUrl":"10.1111/dmcn.16332","url":null,"abstract":"<p>Young adults with developmental coordination disorder (DCD) face daily challenges beyond movement difficulties. This cross-sectional study looked at how DCD affects high-level cognitive skills (executive function), self-esteem, and social support, and how these factors impact everyday activities. A cross-sectional study is one that analyzes data from a population at a specific point in time. We employed a structural equation modeling (SEM) approach, which is a diverse set of methods used by scientists for both observational and experimental research. SEM involves a model representing how various aspects of some phenomenon are thought to causally connect to one another.</p><p>We compared 55 young adults with DCD to 66 peers without DCD. Those with DCD had more difficulties with high-level cognitive skills, lower self-esteem, and less social support. These challenges made daily activities harder, including a greater need for help, lower performance, and less enjoyment. Self-esteem and social support affected all areas of everyday activities, while high-level cognitive skills mainly influenced task performance. Even though only about one-third of those with DCD had a clear deficit in high-level cognitive skills, they had a strong impact on performance in everyday activities.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16332","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065140","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":"Participation experiences of young people with cerebral palsy in key life situations: A qualitative study","authors":"","doi":"10.1111/dmcn.16339","DOIUrl":"https://doi.org/10.1111/dmcn.16339","url":null,"abstract":"<p>This study explored the participation experiences of adolescents and young adults with cerebral palsy (CP) in key life situations. Topics included education, employment, relationships (with friends, family, romantic), hobbies, and community activities. It also examined the impact of the National Disability Insurance Scheme (NDIS) on participation and health service access. Sixteen young adults with CP (aged 16 to 30 years) participated, from four Australian states. Interviews were recorded and transcribed exactly as spoken, before analysis.</p><p>Results highlighted the changes and challenges they face during the transition into and through young adulthood. The overarching theme of ‘branching out into adulthood’ captured the broad and varied hopes, plans, and experiences of participation during this time. Participants spoke about how being a young adult was an exciting time to try new things, exploring who they are, building meaningful relationships with others, and also explored how the COVID-19 pandemic lockdowns affected their participation in varied aspects of life. However, participation in life areas can be challenging when they may be treated differently by others because of their disability. For participants who had a NDIS plan, although they were financially supported to access various supports and services, many found the processes of setting up, accessing, and managing their funds confusing. Participants described a ‘big communication block’ between them and the NDIS when trying to access information and services, resulting in frustration and reducing confidence in the NDIS.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 6","pages":"e118"},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16339","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143939327","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":"The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy","authors":"","doi":"10.1111/dmcn.16333","DOIUrl":"https://doi.org/10.1111/dmcn.16333","url":null,"abstract":"<p>This study aimed to investigate the phenotypic spectrum and genotype–phenotype correlation in <i>YWHAG-</i>related epilepsy. We performed a comprehensive analysis of clinical data from 15 patients in our Chinese cohort and compared these findings with data from 40 patients documented in previous studies. Our investigation identified seven novel and five unique genetic variations in our cohort.</p><p>The results indicate that the majority of affected children experienced their first seizure within the first 2 years of life, with generalized tonic–clonic seizures (GTCS) and myoclonic seizures being the predominant seizure types observed. The phenotypic spectrum of <i>YWHAG</i>-related epilepsy ranged from mild febrile seizures plus to severe developmental and epileptic encephalopathy.</p><p>Significantly, most variants were localized within the highly conserved triad (HCT) domain Arg132-Arg57-Tyr133 of the <i>YWHAG</i>, whereas variations occurring outside this domain were generally associated with milder phenotype. Seizure control was achieved in seven children, primarily through the administration of valproate and levetiracetam.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 6","pages":"e116"},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16333","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143939329","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":"Community participation, physical activity, and quality of life for children born very preterm","authors":"","doi":"10.1111/dmcn.16337","DOIUrl":"10.1111/dmcn.16337","url":null,"abstract":"<p>Children who are born early or very preterm (&lt;32 weeks' gestation) are at greater risk of a range of health and developmental challenges compared with children born at term (≥37 weeks' gestation). Finding ways to support children born preterm to live healthy, active lifestyles is needed. Participation in community-based activities, such as community events, organized physical activities, and social gatherings, may be one way of supporting children to be more physically active and improve their quality of life.</p><p>In this study, we wanted to explore two questions. First, does the community environment (including physical demands of activities, community attitudes, policies, and access to transport and information) affect physical activity or quality of life for preschool-age children born preterm and at term? Second, is there a relationship between children's attendance and involvement in activities in their local community, and their physical activity and quality of life?</p><p>This study included 45 children born before 30 weeks' gestation and 89 children born at term, aged 4 to 5 years. Parents completed the Young Children's Participation and Environment Measure, to measure community participation, and the Pediatric Quality of Life Inventory 4.0 to measure quality of life. Children were asked to wear an accelerometer (activity monitor) on their ankle for 7 days to measure physical activity.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16337","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057125","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":"The Bobath Clinical Reasoning Framework: A systems science approach to the complexity of neurodevelopmental conditions, including cerebral palsy","authors":"","doi":"10.1111/dmcn.16338","DOIUrl":"10.1111/dmcn.16338","url":null,"abstract":"<p>Bobath is a widely used therapeutic approach for individuals with neurodevelopmental disorders such as cerebral palsy. The Bobath Clinical Reasoning Framework (BCRF) uses a systems science approach to explain current Bobath practice. A damaged central nervous system cannot be cured or fixed but can potentially be modified according to a child's experiences.</p><p>The BCRF uses knowledge from various fields to understand how physical and other aspects, for example sensory and cognitive factors, impact on daily activities. The BCRF depends on comprehensive in-depth clinical reasoning, and provides a structured way for professionals to think through and understand the relationships between various health domains, such as body functions, activities, and participation in daily life, which are unique to each individual. It provides a common understanding between physical therapists, occupational therapists, speech therapists, and families, about the key variables that could enable improved outcomes for different aspects of activity and participation. Treatment plans developed in response to the clinical reasoning ensure a holistic plan which can become a part of daily life activities, now and for the future, to achieve the ultimate goal of optimizing the individual's lived experience.</p><p>The article also considers the collaborative nature of the BCRF, which involves not only therapists who work in a transdisciplinary way, but places families centrally within the multidisciplinary team. This collaborative working is crucial for creating a supportive environment that fosters the individual's functional development throughout the lifespan.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16338","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063194","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":"Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy","authors":"","doi":"10.1111/dmcn.16331","DOIUrl":"https://doi.org/10.1111/dmcn.16331","url":null,"abstract":"<p>People with Duchenne muscular dystrophy (DMD) have a mutation in their <i>DMD</i> gene that results in them not being able to make enough of the dystrophin protein. Dystrophin is made in several parts of the body, including the brain and muscles. There are different isoforms (types) of the dystrophin protein. Dp140 is a dystrophin isoform that is found mainly in the brain. Not all people with DMD lack Dp140, and whether they lack Dp140 depends on the location of their <i>DMD</i> mutation in the <i>DMD</i> gene. Earlier research has shown that people with DMD who are expected to lack Dp140 are more likely to have learning disabilities. Forced vital capacity (FVC) is the maximum volume of air someone can forcefully breathe out of their lungs after breathing in as deeply as possible.</p><p>In this study, we looked at the results of measures of grip strength, pinch strength, and FVC that had been collected from young males with DMD. We looked at two groups; those who were expected to lack Dp140 and those who were not. We found that those who were expected to lack Dp140 had lower measures of grip strength, pinch strength, and FVC than those who were not.</p><p>The causes of this require further research. However, they may be related, at least in part, to how a lack of Dp140 affects the interaction of the brain, muscles, and nerves in the planning and execution of these tasks.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 6","pages":"e115"},"PeriodicalIF":3.8,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16331","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143939389","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":"Parental engagement in early diagnostics and intervention of infants at risk: A delicate balancing act.","authors":"Marike Boonzaaijer","doi":"10.1111/dmcn.16342","DOIUrl":"https://doi.org/10.1111/dmcn.16342","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038758","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}