Developmental Medicine and Child Neurology最新文献

Targeted injections with onabotulinum toxin A (Botox) have been used for close to 35 years to decrease spasticity (increased muscle tone) in children and adolescents. It is only within the last 5 years, however, that the Food and Drug Administration (FDA) has approved the use of Botox to manage spasticity in children aged 2 to 17 years. The FDA approved specific dose ranges and maximum doses based on weight and age.

Prior to the FDA approval of the use of Botox in children, highly variable and often much higher doses of Botox were injected into children to decrease spasticity. We wondered whether there was evidence that using higher doses of Botox causes more problems for children who are injected.

We reviewed 1733 episodes of injections in 648 patients who were seen in one pediatric hospital over the course of 3 years. We examined the medical records from the time of the injection through the 2 months following the injection. We compared the results in children who had FDA approved doses of Botox to the results in children who were injected with doses of Botox greater than that approved by the FDA.

The impact of cerebellar haemorrhage (CBH) in infants born extremely preterm (<28 weeks of gestation) with intraventricular haemorrhage (IVH) on neurodevelopmental outcomes at 2 years of corrected age was investigated. IVH and CBH are common in infants born preterm, often originating from the germinal matrix, and are associated with significant developmental impairments. This retrospective case–control study included 103 infants born between 22 and 27 weeks of gestation, admitted to a neonatal intensive care unit in Vienna. The study group was divided into infants with and without CBH, diagnosed using cerebral magnetic resonance imaging (MRI).

The findings revealed that 67% of infants with IVH had CBH, which was linked to worse cognitive and motor outcomes at 2 years. CBH severity, including atrophy (decrease in size) of the cerebellum, was an independent predictor of neurodevelopmental delays. The study also noted that the size of cerebellar hemorrhage and atrophy correlated with poorer motor outcomes, while larger cerebellar size predicted better motor performance.

Predicting neurodevelopmental disorders, such as cerebral palsy and intellectual disability, during infancy is not easy. Literature indicates that the General Movements Assessment (GMA) gives the best prediction. It can be used in infants up to the age of 5 months corrected age and is based on a video-recording of the infant's spontaneous movements. It requires substantial assessor training. A relatively recently developed instrument is the Standardized Infant NeuroDevelopmental Assessment (SINDA) for infants aged 6 weeks to 12 months corrected age. SINDA has three scales: neurological, developmental, and socio-emotional. SINDA is not video-dependent.

We compared how well GMA and SINDA's neurological scale predict neurodevelopmental disorders in 109 high-risk infants (mostly born very preterm). Abnormal general movements (like reduced variety in movement and lack of specific ‘fidgety’ movements) and low SINDA scores (below 22 out of 28) were used as markers for neurodevelopmental issues. These infants were tracked until at least 2 years old to identify outcomes like cerebral palsy or low developmental scores.

Both GMA and SINDA accurately predicted atypical outcomes, with minor differences in the profile of the predictive values. However, SINDA is easier to learn and doesn't rely on video, which allows caregivers to be more involved during assessments.

Learning that SINDA and the GMA both predict neurodevelopmental outcome well may be relevant, as SINDA is easier to learn than the GMA. Moreover, the non-video-based SINDA allows caregiver feedback during the consultation and the GMA usually does not.

Aim: To evaluate the structural validity, internal reliability, and measurement invariance of the Pediatric Evaluation of Disability Inventory - Patient Reported Outcome (PEDI-PRO), a measure of functional performance of discrete tasks required to participate in everyday life situations important for adulthood.

Method: This was a cross-sectional study with 306 young people aged 14 to 22 years (mean 18 years 10 months, SD 2 years 5 months) with developmental disabilities (43.1% autism spectrum disorder only, 23.9% intellectual disability, 17.6% other disability, 11.4% both autism spectrum disorder and intellectual disability, 3.9% missing) completed the PEDI-PRO. Following COnsensus-based Standards for selection of health Measurement INstruments (COSMIN) criteria, we conducted a confirmatory factor analysis, applied a Rasch rating-scale model, examined Cronbach's alpha, Rasch person reliability and separation coefficients, and differential item functioning (DIF).

Results: Structural validity was good for the daily activities and mobility domains, and acceptable for the social/cognitive domain. The 3-point Likert response scale functioned as intended. All domains demonstrated acceptable internal consistency on all criteria. One or two items in each domain demonstrated DIF, but the impact on all domain scores was less than 1.0 threshold.

Interpretation: The cognitively accessible design and innovative conceptual measurement framework probably contributed to these promising findings. The PEDI-PRO addresses a gap in high-quality patient-reported outcome measures that assess priority outcomes for young people with developmental disabilities.

Children with cerebral palsy (CP) consume more energy during walking than children with typical development (TD). Proper nutrition can often be a challenge for children and adults with CP, which is necessary for muscle growth and replenishing the body's energy stores. This imbalance between higher energy demands and lower energy supplies can lead to a deterioration in function.

Given this, our study looked at potential differences in energetic markers and how they may be associated with function in adolescents and young adults with CP compared to TD. Several functional tests were conducted and subsequently followed by a blood draw to quantify marker levels. We found that individuals with CP had significantly higher levels of energetic and muscle breakdown markers. A number of these markers were associated with functional capacity only in individuals with CP, not TD, with higher-functioning individuals expressing higher marker levels. This may reflect increased muscle or protein breakdown with higher energy expenditure during exercise in those with CP.

Cerebral palsy (CP) is a childhood-onset condition that affects movement and muscle coordination, and those with CP often have additional conditions related to their CP. Therefore, they need various health care services throughout their lifetime to manage their condition. This article explores how children and adolescents with CP use primary health care services (general practitioners and urgent care centers).

Children and adolescents with CP had more contact with primary health care services than those without CP. The most common reasons for these visits were respiratory and general health issues. They were also more likely to have epilepsy, a psychological condition, and a need for administrative reasons (e.g. prescription renewal and referrals to other health and social services) than children without CP. Although all children and adolescents with CP had more contacts regardless of level of gross motor impairment, the frequency of contact increased as the severity of impairments increased.

A key finding was that while children and adolescents with CP often have regular contact with the specialist health care services, primary health care services also play an important role in the coordination of their care. It is important that primary health care service providers have both general knowledge of CP as a complex condition, but also specific medical knowledge of the impact of associated conditions.

Aim: To determine the evidence for functional outcomes experienced by a population with paediatric neurodisability (such as acquired brain injury, cerebral palsy, spinal cord injury, and other neurological disorders), who access music therapy through neurorehabilitation services across the rehabilitation spectrum.

Method: Using scoping review methodology of the JBI and the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR), a systematic search was conducted across eight databases and expert knowledge users were consulted. Articles were screened by title and abstract, and data from eligible studies were categorized using the International Classification of Functioning, Disability and Health: Children and Youth version (ICF-CY).

Results: From 1726 records identified, 53 eligible primary sources were included in the synthesis. Most literature (n = 30) related to children and adolescents with an acquired or traumatic brain injury. Physical function was the most frequently reported outcome across sources (n = 27), followed by communication (n = 25), social (n = 22), cognitive (n = 17), emotional (n = 13), psychological (n = 13), behavioural (n = 8), and sensory (n = 5).

Interpretation: Evidence for functional outcomes experienced by children and adolescents accessing music therapy as part of their neurorehabilitation is limited. More than half of the included sources were clinical descriptions with small samples. High-quality studies involving children, adolescents, families, and interprofessional teams are needed to identify the most effective music therapy methods and techniques for functional outcomes in paediatric neurodisability.

Genomic testing has revolutionized personalized medicine by offering tailored diagnostics and treatments based on individual genetic information. It is widely used in pediatric neurology, particularly for early-onset epilepsy, to identify genetic causes and optimize therapies. However, its use in cerebral palsy (CP) has been limited, despite growing evidence of a genetic basis in many instances.

This review explores the potential role of genomic testing in children with CP, emphasizing its benefits in refining diagnoses and personalizing care. While CP has traditionally been thought to result solely from brain injuries, this review highlights the impact of genomic insights on understanding CP. Notably, studies have found that a significant proportion of people with CP may have a single gene mutation that could explain the condition. We highlight the Wnt signalling pathway, which is associated both with neonatal while matter injuries and genetic forms of CP.

The advantages of genomic testing include more precise diagnostic outcomes, better-informed treatment plans, and a clearer understanding of the associated risk factors and co-occurring conditions. However, challenges remain, such as ensuring accurate clinical assessment, interpreting complex genetic data, and addressing ethical concerns when attributing a specific genetic cause to an existing diagnosis of CP.

Aim: To determine school attendance and its predictors among children with cerebral palsy (CP) in Bangladesh using population-based data.

Method: This study utilized data from the Bangladesh Cerebral Palsy Register (BCPR), a population-based register of children with CP aged less than 18 years in Bangladesh. Sociodemographic, clinical, and educational data were documented, and descriptive statistics and multivariate regression analyses were used to identify potential predictors of school attendance.

Results: Between January 2015 and January 2019, 2725 children with CP were registered into BCPR of which 1582 were school-aged children (i.e. aged 6-18 years). The majority of those children had not attended school (73.9%); 50% (n = 239) children in Gross Motor Function Classification System (GMFCS) levels I to II did not attend schools. Adjusted odds ratios (OR) showed significantly higher odds of school attendance among children whose mothers had completed secondary education or higher (adjusted OR: 2.2; 95% confidence interval [CI]: 1.2-4.0) and received rehabilitation (adjusted OR: 2.1; 95% CI: 1.4-3.1). Conversely, lower odds of school attendance were observed among children aged 15 to 18 years (adjusted OR: 0.4; 95% CI: 0.2-0.8), those with bilateral CP (adjusted OR: 0.5; 95% CI: 0.3-0.8), GMFCS levels III to V (adjusted OR: 0.3; 95% CI: 0.2-0.5), Manual Ability Classification System levels III to V (adjusted OR: 0.5; 95% CI: 0.4-0.8), and speech impairment (adjusted OR: 0.3; 95% CI: 0.2-0.6).

Interpretation: A large number of children with CP in Bangladesh, including half of those with milder forms, do not attend schools. These findings underscore a deficiency in awareness and support, encompassing the provision of resources and trained teachers, highlighting the necessity for policy-level changes. Sociodemographic and clinical predictors should be taken into account when devising educational programmes to enhance school attendance for children with CP in Bangladesh.