Developmental Medicine and Child Neurology最新文献

Unilateral spastic cerebral palsy (CP) is a disorder of motor and postural development caused by early brain injury. This impairment poses significant challenges for daily physical tasks such as getting dressed, taking a shower, cutting food, etc. The authors of this study undertook a systematic literature review to discover what research has taken place on the effectiveness of magic-themed interventions in improving task performance in both hands in children with unilateral spastic CP.

Four experimental studies with a total of 78 participants were identified. The average age was 9 years 8 months, with 44 males and 34 females participating.

The studies found that rehabilitation techniques based on magic tricks have demonstrated significant positive effects on the daily bimanual skills of children with unilateral spastic CP. Magic-themed rehabilitation camps have shown a clear impact, which is still evident at 3 months and in some instances 6 months. Magic-based therapies implemented in home-based rehabilitation settings (through watching and imitating magic videos) have also been effective (Appendix S1).

While group interventions through in-person magic camp revealed a significant positive impact, barriers include location and cost. Home video training sessions tended to be of shorter duration compared with live training sessions. In both instances, longer total training duration improved daily hand function. Motivation and confidence are both key in facilitating these positive outcomes.

Aim: To determine if the Cognitive Orientation to daily Occupational Performance (CO-OP) intervention is effective in improving motor skills of autistic children with developmental coordination disorder (DCD), and whether motor gains are maintained 3 months after therapy.

Method: In this quasi-experimental study, we recruited 27 autistic children (8-12 years) with DCD without intellectual disability. The treatment group received CO-OP intervention once weekly for 10 weeks, focusing on three child-chosen motor goals. The waitlist group received CO-OP 3 months later. Outcome measures included the Canadian Occupational Performance Measure (child ratings of motor performance and satisfaction), Performance Quality Rating Scale (therapist-observed movement quality), and the Bruninks-Oseretsky Test of Motor Proficiency, Second Edition (motor ability).

Results: Non-parametric analyses showed significant improvements (p < 0.013) in all outcomes. Follow-up analysis revealed significant improvements in performance (p < 0.001, W = 0.69), satisfaction (p < 0.001, W = 0.72), and movement quality (p < 0.001, W = 0.62). Despite slight declines at follow-up, overall improvements from pretest remained evident.

Interpretation: The CO-OP intervention effectively improved motor skills of autistic children.

Aim: To develop standardized diagnostic criteria for 'infection-triggered encephalopathy syndrome (ITES)' and five specific clinical syndromes of ITES.

Method: The draft definitions were based on existing criteria, standardized, and discussed by a panel of international experts using nominal group technique over 18 months to achieve consensus. All criteria use the same format: (1) presence of infection/fever; (2) clinical features including encephalopathy; (3) neuroradiological features on magnetic resonance imaging; (4) exclusion of other causes.

Results: We first highlighted differences between ITES and infectious and autoimmune encephalitis, which is the most important differential diagnosis. Consensus was achieved to define five specific ITESs: acute encephalopathy with biphasic seizures and late reduced diffusion; acute necrotizing encephalopathy; mild encephalopathy with a reversible splenial lesion; acute fulminant cerebral oedema; and acute shock with encephalopathy and multiorgan failure. Two further conditions that are currently classified as epilepsy syndromes but have similar features to ITES, namely febrile infection-related epilepsy syndrome and hemiconvulsion-hemiplegia-epilepsy syndrome, are also discussed.

Interpretation: The consensus definition is expected to improve awareness of this disease concept, provide diagnostic framework, and facilitate future international research and clinical trials.

Crotti M, Ortibus E, Mailleux L, Decraene L, Kleeren L, Itzhak NB. Visual, perceptual functions, and functional vision in children with unilateral cerebral palsy compared to children with neurotypical development. Dev Med Child Neurol. 2024; 66: 1084-1095. In paragraph 1 of the Discussion section, the prevalence related to the impairments in stereoacuity (14%) was incorrect. It should have been stereoacuity (39%), in agreement with the numbers reported in Table 2. We apologize for this error.

Aim: To evaluate the effectiveness of magic-themed interventions in improving daily bimanual task performance in children with unilateral spastic cerebral palsy (CP) to and elucidate the variability in outcomes.

Method: This systematic literature review searched databases including Embase, MEDLINE, Scopus, Cochrane Central, and CINAHL. Outcome measures selected for the meta-analysis included the Children's Hand-use Experience Questionnaire, its three subscales, and the Besta subscale C. The overall efficacy of magic-themed interventions was analysed using Hedges' g as the summary measure for these outcomes. Subgroup analysis compared the efficacy of different modes of training, and a meta-regression investigated the impact of training duration.

Results: Analyses of four studies involving 78 children showed magic-themed training significantly improved bimanual task performance (Hedges' g = 0.327, 95% confidence interval [CI] = 0.107-0.547, p = 0.004), especially in group settings (Hedges' g = 0.435, 95% CI = 0.176-0.693, p = 0.001), compared with non-significant gains from video interventions (Hedges' g = 0.041, 95% CI = -0.380 to 0.462, p = 0.850). Additionally, training duration positively correlated with performance gains (coefficient = 0.0076 per hour, p = 0.001).

Interpretation: Magic-themed training, especially through group sessions and extended durations, enhances bimanual skills in children with unilateral spastic CP.

Cranial ultrasound (CUS) is a trusted method for diagnosing many brain disorders in newborn infants. When combined with Doppler imaging, CUS becomes even more powerful because it can also show how blood is flowing through the brain's blood vessels. This additional information can help doctors make better decisions about a baby's care.

Doppler imaging can detect blood vessel problems that a baby might be born with or develop after birth. If such issues are found, doctors might use other types of scans, like MRI or conventional angiography, to get a clearer picture.

This review aims to help doctors working in neonatal intensive care units (NICUs) become better at using Doppler ultrasound. By improving their skills with this tool, they can more effectively diagnose and treat newborns who show signs of brain problems or blood vessel issues.

Schaaf–Yang syndrome (SYS) is a complex disorder affecting brain development and function. Individuals living with SYS often take longer to learn skills like walking, have intellectual challenges, show signs of autism, and frequently experience joint problems. Many symptoms are related to dysfunction of the hypothalamus, a brain region that regulates essential body functions like hormones, temperature, hunger, and sleep. SYS is caused by genetic variants in the gene MAGEL2. There is some similarity to Prader–Willi syndrome because MAGEL2 is one of many genes also involved in that syndrome.

Currently, there is no cure for SYS. Available treatments focus on managing symptoms rather than addressing the underlying cause. Common therapies include speech and physical therapy, psychiatric treatment, and hormone replacement. Growth hormone treatments particularly have shown promise, improving height, body mass index, muscle strength, and social skills in some patients. Oxytocin (which acts on internal body organs and as a chemical messenger in the brain) therapy shows promise in animal studies by improving social skills, learning, memory, and eating behavior. Oxytocin therapy for disorders similar to SYS have yielded mixed results. Oxytocin may work best during specific developmental periods and in combination with behavioral therapy but this must be confirmed with clinical trials.

MAGEL2 mostly acts during brain development and in the hypothalamus. In most cases of SYS, the gene is changed such that a shorter, defective MAGEL2 protein is produced. This defective protein cannot function properly. In addition, it is likely that the defective protein has harmful effects beyond that. Therefore, a potential therapeutic approach could reduce the levels of the defective protein with compounds like antisense oligonucleotides (small pieces of DNA or RNA that can bind to specific molecules of RNA), which reduce defective protein levels indirectly, or proteolysis targeting chimeras (small, readily designed molecules), which directly act on the defective protein.