Developmental Medicine and Child Neurology最新文献

Aim: To examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1-related disorder), a mixed group of other neurodevelopmental genetic syndromes (NDGS), idiopathic neurodevelopmental disorder, and neurotypical control participants.

Method: Using a longitudinal case-control design, caregivers reported neurobehavioral information for 498 participants (PTEN hamartoma tumor syndrome n = 112, Malan syndrome n = 24, SYNGAP1-related disorder n = 47, other NDGS n = 72, idiopathic neurodevelopmental disorder n = 54, neurotypical siblings n = 74, and unrelated neurotypical control participants n = 115) at three timepoints (baseline, and 1-month and 4-month follow-ups) using the online-administered Neurobehavioral Evaluation Tool (NET).

Results: NET scales had good scale and test-retest reliability. Unique patterns of neurobehavioral findings emerged, with SYNGAP1-related disorder and Malan syndrome showing generally more severe symptom and skill patterns than for other groups of patients. Patterns could be partly accounted for by estimated cognitive level, speech level, and the presence of autism spectrum disorder. However, even when accounting for these factors, group differences remained. Reliable change indices are reported.

Interpretation: Genetic syndromes associated with neurodevelopmental disorders present with unique neurobehavioral profiles that can inform selection of outcome measures in future clinical trials. The NET may be a useful screening and monitoring instrument in clinical practice, where frequent in-person clinic attendance is difficult for many patients.

The article by Romeo et al. discusses a new tool called the Brief-Hammersmith Infant Neurological Examination (Brief-HINE). This tool is designed to help healthcare professionals assess the neurological health of infants during their first year after birth. Early identification of neurological issues (such as cerebral palsy [CP]) is crucial because timely intervention can lead to better outcomes for children.

The Brief-HINE is a simplified version of the original Hammersmith Infant Neurological Examination (see https://www.mackeith.co.uk/hammersmith-neurological-examinations/), which was more detailed and time-consuming. The authors aimed to create a shorter and easier assessment that could be used in various healthcare settings, making it more accessible for routine screenings.

Eleven items were selected from the original HINE, identifying those items previously found to better predict CP in both low- and high-risk infants. In the study, the researchers tested the Brief-HINE using data from a group of 228 infants with typical development at 2 years and in 82 infants who developed CP to evaluate its effectiveness. They looked at how well the tool could identify potential neurological problems by comparing the results to those from the original examination. The findings showed that the Brief-HINE is a reliable method for detecting neurological issues, providing a good balance between thoroughness and efficiency.

The Brief-HINE can help pediatricians, neurologists, and other healthcare providers screen infants quickly and effectively, ensuring that those who may need further evaluation or intervention receive appropriate care. The results of the study do not suggest that the Brief-HINE should completely replace the longer full HINE, but rather be used as a screening method to identify infants who need a fuller neurological examination.

In summary, the Brief-HINE is a valuable tool for assessing the neurological health of infants, aiming to improve early detection and management of potential issues during a critical developmental period.

This commentary is on the original article by Sarmiento et al. on pages 99–110 of this issue.

Including parents in decision-making is an important goal in medicine. We still have a lot to learn about what influences the decisions that parents make. Cerebral palsy (CP) is a lifelong and complex condition. Parents of children with CP make a lot of decisions about what to do, or not, related to their child's medical care. The purpose of our study was to talk to parents to understand what things impact their decision-making.

One author talked to 18 mothers of 20 children. Children had to be 4 to 8 years old, have spasticity, and have some ability to walk. We wanted to talk to this group of parents specifically because, not only do families have a lot of medical decisions to make, but some of the treatments do not have a lot of research to know how helpful they are.

Children with rare genetic conditions often have hypotonia or low muscle tone and delayed motor skills like standing and walking. We know that children with cerebral palsy (CP) with limited standing and walking abilities are at increased risk for hip subluxation or dislocation (where the hips are partly or fully out of position), whether they have high or low muscle tone. Hip surveillance (a program of regular orthopaedic assessments and x-rays) helps to recognize the early signs of hip problems and makes sure children get the best interventions at the right time. However, children with hypotonia who do not have a CP diagnosis often do not receive hip surveillance.

We searched for journal articles or book chapters describing children or adults with rare genetic conditions (like Prader-Willi, Kabuki, Joubert, 49, XXXXY, PURA, as well as other rare syndromes) who were reported to have both hypotonia and hip problems.

We found reports of 544 children and adults aged 1 month to 63 years with hypotonia and hip problems due to rare genetic or undiagnosed conditions. Some had differences in hip shape when they were born, and hip problems also got worse over time. We found that children with hypotonia have a much higher rate of hip problems than children with normal muscle tone, and these problems are often missed by typical infant screening programs. Some children dislocate their hips after they start walking, and older children and adults can also develop painful dislocated hips.

Children with neurodevelopmental disabilities, such as cerebral palsy, often struggle with excessive drooling, which can seriously impact their daily lives. Botox injections into the salivary glands can help reduce drooling. Doctors can inject either the submandibular glands under the jaw (two-gland injections) or both the submandibular and parotid glands near the ears (four-gland injections). While effective, these injections may also have side effects on oral motor functions such as eating, drinking, and speaking. This study aimed to describe the side effects of four-gland Botox injections, and compare them to an earlier study that focused on the side effects of two-gland injections.

This study included 125 children with neurodevelopmental disabilities who received four-gland Botox injections after two-gland injections did not reduce drooling enough. About 4 out of 10 children (36%) had side effects, mainly involving problems with eating or swallowing saliva. Most of these side effects were mild and went away within 4 weeks.

The frequency, type, and duration of side effects were similar to what was seen with two-gland injections. In the four-gland group, more lifestyle adjustments, such as changes to eating habits, were needed. In contrast to the two-gland group, no severe side effects or long-lasting changes were reported.

This study explored whether the behavioural and emotional problems of preschool children born very preterm (before 32 weeks of pregnancy) are linked to their immigrant background and the languages they speak at home. The study followed 3220 children born very preterm in Germany, including 629 children with immigrant backgrounds. Parents answered questions about the languages they speak at home and about their children's behavioural and emotional problems when they were 5 years old.

Results showed that simply being an immigrant did not affect the children's behavioural and emotional problems. However, children whose mother tongues (meaning the languages they speak at home) were very different from German had more behavioural and emotional problems.

To compare information collected about cerebral palsy (CP) in different countries globally to create a useful registry for Africa.

Researchers reviewed studies from 1990 to 2023 to identify conditions that increased the likelihood of developing CP either before birth, during birth or after birth.

197 studies were reviewed. Even though registers from both wealthy and less wealthy countries collected information about conditions that increased the likelihood of developing CP before birth, less wealthy countries focused more information on the families' social factors. For example, parental level of education, employment status, income level, as well as housing conditions (21.1% vs 1.7% in wealthy countries). Alternatively, wealthy countries focused more on factors that could be changed or controlled (e.g. maternal smoking and alcohol intake) and could not be changed or controlled (e.g. genetic conditions) to reduce the risk of CP occurring.

Less wealthy countries tracked more information on factors or events that occur after birth, potentially leading to CP. These included postnatal jaundice (15.8% vs 6.9% in wealthy countries) and postnatal head trauma (10.5% vs 5.2% in wealthy countries).