Developmental Medicine and Child Neurology最新文献

Background

Adolescents with Down syndrome can attend either mainstream schools or special schools, which provide tailored support for students with disabilities or learning needs. Some people think mainstream secondary schools provide better teaching and social opportunities for students with Down syndrome. Others believe better support is available in special schools. There is little data comparing which school setting is best, and most previous studies focused on younger children rather than on adolescents.

Purpose

We wanted to find out whether mainstream or special secondary schools were better for adolescents with Down syndrome in terms of education, health, social wellbeing, and self-care outcomes.

What we did

We searched four databases for all previous studies comparing adolescents with Down syndrome who attended either mainstream or special schools. We found only three studies, published in the UK and the Netherlands, which involved 246 adolescents. We described the studies' results and looked at the strengths of their methods to identify any problems that might affect those results.

What we found

Two of the three papers reported that adolescents with Down syndrome who attended mainstream secondary schools did better on academic skills tests than those who attended special secondary schools. One study reported on measures of social health and self-care, but it found no differences by school type. Because of missing data and some limitations of their methods, these studies may not represent all adolescents with Down syndrome.

What this means

Sickle cell disease (SCD) is a genetic condition typically diagnosed at birth that can impact many body systems including brain development. We looked at how well a developmental screening tool called the Ages and Stages Questionnaire (ASQ) could predict future challenges in young children with SCD. We wanted to see if screening preschoolers could help identify children who might struggle in school later or be at higher risk for having a stroke.

This study followed two groups of children with SCD who received developmental screenings during routine medical visits with a hematologist: toddlers (ages 2–3 years) and preschoolers (ages 4–5 years). We found that screenings completed for toddlers predicted later academic difficulties, but not stroke risk. Screenings completed for preschoolers with SCD using the ASQ predicted which children with SCD would have later academic problems and increased stroke risk. The ASQ was the only unique predictor of future academic challenges, even when other factors were considered. Medical factors were better at predicting stroke risk than the ASQ. Daycare enrollment appeared to help protect against academic problems but did not add much predictive power beyond the ASQ.

Early developmental screening is valuable, especially at preschool age, for identifying children with SCD who may struggle academically later in childhood. Early intervention matters—referring children for services like speech therapy or communicating to schools that children may benefit from educational support before kindergarten may help reduce future academic challenges. Stroke risk prediction is more complex, and while preschool developmental screening showed some link, it is not strong enough to rely on alone. Providing schools with screening results and neurodevelopmental diagnoses early can help ensure children get the help they need early on and potentially avoid later academic difficulties.

This article explains how causal diagrams—also known as directed acyclic graphs or DAGs—can help researchers and clinicians make sense of the many interacting causes of childhood-onset disabilities such as cerebral palsy, autism, and ADHD. A DAG is a visual map showing how different factors might influence a health outcome. Each box represents a factor (for example, a medical event, social influence, or developmental stage), and arrows show the direction of causal relationships. By laying out these relationships clearly, DAGs help identify which factors are most important to study, which may cause bias, and where interventions are likely to make the greatest difference.

We introduce the main ideas behind DAGs and show how they are already being used in developmental medicine to clarify research questions and interpret findings. Examples from recent studies demonstrate how DAGs help separate genuine causes from coincidental associations, guide data collection, and improve transparency in analysis.

DAGs also serve as a bridge between researchers, clinicians, and families. They make complex causal ideas visible and open to discussion, helping everyone involved to see how different influences might fit together. For people with lived experience, DAGs can provide a shared framework for understanding how biological, environmental, and social factors interact across development.

This commentary is on the scoping review by Almasri and Dunst on pages 332–342 of this issue.

Arthrogryposis multiplex congenita (AMC) is a rare condition that causes joint contractures and muscle weakness, which can make everyday mobility challenging. Children and young people with AMC use different strategies to move, such as walking, using aids, or wheeling, and having accurate ways to measure mobility is important for families, clinicians, and researchers.

This study examined four mobility measures often used in pediatric rehabilitation: the Functional Mobility Scale (FMS), the Gillette Functional Assessment Questionnaire (FAQ), and the mobility domain of both the Functional Independence Measure for Children (WeeFIM) and the Patient-Reported Outcomes Measurement Information System (PROMIS). We included 248 children and adolescents with AMC, aged 5 to 21 years, from eight hospitals in North America.

We found that all four measures are valid for use in AMC. They could distinguish between different subtypes of AMC (amyoplasia, distal arthrogryposis, and syndromic/central nervous system-related). The measures showed weak to good agreement with each other, meaning that while they assess related aspects of mobility, they each capture something unique.

We also estimated the ‘statistical minimally important difference’, which is the smallest score change that can be considered important from a measurement perspective. We found that about one level on the FMS, two levels on the FAQ, 3 to 4 points on the PROMIS, and 14 points on the WeeFIM reflect meaningful score changes from a statistical standpoint.

This is a case series of neonates born near term presenting with periventricular haemorrhagic infarction (PVHI), determining possible risk factors, clinical presentation, magnetic resonance imaging (MRI), and amplitude-integrated electroencephalography (aEEG) characteristics, and neurodevelopmental outcomes. Twenty term-born neonates, diagnosed with PVHI less than 4 weeks after birth were included. Clinical characteristics and presenting symptoms were gathered from electronic patient records. PVHI anatomical venous subtype involvement was classified on MRI. aEEG recordings were scored on background activity, sleep-wake cycling, and seizures. Neurodevelopmental outcome was assessed at median age of 5 years 10 months. The majority of neonates (n = 19) presented with seizures around the second day after birth. Methylenetetrahydrofolate reductase mutations were present in 10 out of 11. The caudate vein territory was most commonly involved (n = 11). aEEG patterns in the first 24 hours after symptoms showed more discontinuous background and less sleep-wake cycling in the ipsilesional hemispheres. PVHI in term-born neonates most often presents with seizures. Neonatal complications during pregnancy and delivery and prothrombotic genetic mutations were slightly more common in this group. This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro-thrombotic genetic mutations were slightly more common. MRI-classified involvement was predominantly in the caudate vein territory. Most infants showed normal early cognitive outcomes, but motor impairment was significantly more common in these children. These findings underline the clinical, neuroimaging, and developmental characteristics of PVHI in infants born at term.

Objetivo: Compreender as percepções das famílias e terapeutas sobre a sua participação em um programa domiciliar individualizado via telessaúde implementado para crianças e adolescentes com paralisia cerebral (PC) durante a pandemia da COVID-19 no Brasil. MÉTODO: Estudo qualitativo descritivo com 13 famílias de crianças/adolescentes com PC (Sistema de Classificação da Função Motora Grossa - GMFCS níveis IV-V) e 20 terapeutas que participaram de um programa domiciliar individualizado via telessaúde. Entrevistas semiestruturadas online foram realizadas com os participantes ao final da intervenção para compreender suas expectativas, desafios, benefícios e sugestões para serviços futuros. As entrevistas foram transcritas para realização de análise temática.

Resultados: Os três temas foram: 1- Medo do desconhecido, 2- Novos caminhos, 3- Benefícios e perspectivas futuras. Os participantes reconheceram que o envolvimento ativo da família durante a intervenção, o estabelecimento de objetivos individualizados e a comunicação entre pais e terapeutas levaram a mudanças no envolvimento das crianças, nas rotinas das famílias e no empoderamento dos pais em relação ao processo de reabilitação dos seus filhos. Conclusão: O estabelecimento de parceria entre terapeutas e famílias, associando conhecimento técnico e experiência de vida, contribuiu para a implementação bem-sucedida da intervenção. Ações futuras podem envolver a adoção de modelos de intervenção híbridos, focados nas necessidades específicas das famílias de crianças/adolescentes com paralisia cerebral.

Aim: To compare and examine relationships between participation, environmental factors, and quality of life (QoL) in children with cerebral palsy and physical disability (CP/PD) and typically developing children.

Method: Participants were 59 children (6-12 years; 31 females): 30 with CP/PD (mean age 8 years 7 months, standard deviation 1 year 6 months) and 29 with typical development (mean age 8 years 2 months, standard deviation 1 year 6 months). Parents completed the Participation and Environment Measure for Children and Youth to assess participation, the Pediatric Quality of Life Inventory to assess QoL, and a socio-demographic questionnaire. Gross motor function and additional functional classifications were recorded for the CP/PD group.

Results: Involvement in activities, frequency of participation, and QoL were significantly lower in the CP/PD group than in the typically developing group. The gross motor function levels of the CP/PD group positively correlated with their participation in home activities levels. Community-setting support significantly predicted QoL and mediated (β = 0.66, p < 0.001) between disability level and QoL.

Interpretation: Community-setting support is crucial for enhancing QoL for children with CP/PD. Rehabilitation should emphasize community engagement to improve the children's participation and well-being.