Archives De Pediatrie最新文献

Aim

The role of parents in decision-making concerning their child's end-of-life care is not clearly defined. Their participation is encouraged by ethical reflection, in particular by the CCNE (French National Ethics Advisory Committee), but laws are limited to imposing a duty to provide information to doctors. Decisions are taken at the end of a collegial meeting (CM) intended to better inform the child's referring physician (RP) who is in charge of the final decision following the French law. The aim of this study was to describe the support provided to bereaved families after they had been invited to attend a CM concerning their child, if they so wished. Additional aims were to determine the differences resulting from their acceptance or their refusal to participate as regards their perception of their child's history and as regards their grieving process.

Material and method

We conducted a retrospective study of all CMs held between November 2016 and May 2021, drawing a distinction between proposals made or not made to parents and their decision to accept or refuse.

Results

In total, 49 CMs concerning 46 children were held during the study period. The proposal was not made to the parents in three cases; the parents chose to be present in 28 cases. The psychological follow-up (15/28 parents attending, 10/16 parents absent) illustrated that their presence enabled them to reflect on their child's death after having listened to and understood the reasons why it happened. They did not dispute the team's approach or decisions taken.

Conclusion

It is possible to include parents in CMs if they so wish. It would appear more beneficial than merely providing them with the information required. Studies must be carried out to ensure potential long-term benefit.

Objective

Audits are essential for reviewing and improving the medication-use process. Identifying areas for improvement can limit the risk of errors when preparing and administering drugs. Pediatric centers face specific challenges in ensuring the safety of the medication-use process. The objective of this study was to observe and compare compliance with criteria for the preparation and administration of medications by nurses in a mother-and-child university hospital center over two consecutive years.

Methods

This observational cross-sectional study was conducted in a Canadian mother-and-child university hospital center. Audits were conducted over a 1-month period in 16 and 18 nursing care sectors in 2021 and 2022, respectively. The standardized audit evaluated compliance with prespecified criteria related to the preparation and administration of medication by nursing staff (77 criteria for 2021 and 82 criteria for 2022). The auditors comprised nurses and a pharmacist trained by the research team. Compliance was compared between years and assessed through a chi-square test.

Results

The audit consisted of 522 observations in 2021 and 448 observations in 2022. Overall compliance was 76% in 2021 and 66% in 2022. The compliance rate by criterion ranged from 16% to 100%. In 2021 and 2022, 51 (84%) and 52 (87%) of the criteria, respectively, had compliance rates of more than 75%, and 12 (20%) and eight (13%), respectively, had 100% compliance. There were statistically significant decreases in compliance for nine of the 39 criteria for preparation of medications, notably prior hand hygiene (91%% vs. 84%, p = 0.002), and for six of the 17 criteria for administration of medications, including mentioning possible adverse effects to the patient (41% vs- 30%, p = 0.008).

Conclusion

In this study, compliance was over 75% for most of the criteria. However, for a few criteria, we observed a decrease in compliance from 2021 to 2022. Various hypotheses are proposed to explain these decreases, such as the COVID-19 pandemic.

Background

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene (SMN1), causing degeneration of the anterior horn cells of the spinal cord and resulting in muscle atrophy. This study aimed to report on the 36-month follow-up of children with SMA treated with nusinersen before the age of 3 years. Changes in motor function, nutritional and ventilatory support, and orthopedic outcomes were evaluated at baseline and 36 months after intrathecal administration of nusinersen and correlated with SMA type and SMN2 copy number.

Results

We found that 93% of the patients gained new motor skills during the 3 years—standing without help for 12 of 37 and walking with help for 11 of 37 patients harboring three SMN2 copies. No patients with two copies of SMN2 can stand alone or walk. Patients bearing three copies of SMN2 are more likely to be spared from respiratory, nutritional, and orthopedic complications than patients with two SMN2 copies.

Conclusion

Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two SMN2 copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.

Background

Nephrotic syndrome (NS) is a commonly encountered chronic kidney disease in pediatric populations, with South Asian children being at high risk and requiring long-term pharmacological management. Thus, identifying medication discrepancies and evaluating the appropriateness of therapy and its economic burden are vital for inpatient management. The aim of the study was to assess medication reconciliation, medication appropriateness, and cost analysis in NS cases.

Methods

An ambispective cohort observational study was carried out with 150 NS patients where medication discrepancies were identified retrospectively and prospectively using the best possible medication history and following up patients correspondingly. Further, the Medication Appropriateness Index and cost variation analysis were used to assess the prescribed therapy and cost analysis, respectively.

Results

Out of 150 patients with NS included, 67.3% were male and the mean age was 7.2 years. In total, 36.7% medication discrepancies were found at baseline and 6% discrepancies at follow-up. The majority of discrepancies were unintentional and due to dosing error both at baseline and follow-up. Further, in only 2% of the patients was there inappropriately prescribed medication, and the majority of patients spent between INR (Indian Rupees) 500 and 1000.

Conclusion

Chronic conditions like NS require continuous monitoring by the specialist pediatric clinical pharmacist, who can contribute significantly by minimizing the medication discrepancies, by assessing the appropriateness of therapy, and lessening the economic burden.

We present the case of a 3-month-old boy who accidentally ingested poppers. The patient presented with refractory hypoxemia and compensated circulatory failure associated with severe methemoglobinemia. He made a full recovery after treatment with the specific antidote methylene blue. This is the first report of popper poisoning in a child – a rare case of poisoning in pediatrics.

Background

We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods

Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

Results

During the 15-year period, 23 patients were diagnosed with CDGS (19 patients with CDG-Ia, three patients with CDG-IIx, and one patient with CDG-X). These patients included 13 boys and 10 girls aged between 3 months and 13 years, comprising 2.18 % of the total 1055 patients screened. The incidence for CDGS was estimated to be 1:23,720 live births (4.21 per 100,000) in Tunisia. The main clinical symptoms related to clinical disease state in newborn and younger patients were psychomotor retardation (91 %), cerebellar atrophy (91 %), ataxia (61 %), strabismus (48 %), dysmorphic symptoms (52 %), retinitis pigmentosa, cataract (35 %), hypotonia (30 %), and other symptoms.

Conclusion

In Tunisia, CDGS still remains underdiagnosed or misdiagnosed. The resemblance to other diseases, especially neurological disorders, and physicians’ unawareness of the existence of these diseases are the main reasons for the underdiagnosis. In routine diagnostics, the screening for CDGS by biochemical tests is mandatory to complete the clinical diagnosis.

Background

The age of menarche has been gradually declining since the end of the 20th century. Few studies have been carried out about dysmenorrhea in Europe and they mainly included girls over the age of 15 years.

Methods

We conducted an observational study among sixth-grade schoolgirls (usually 11-12 years) during the 2020 academic year in 72 randomly selected public schools in a French region (approval number #20.94).

Results

Among 1712 girls interviewed, 257 (23 %) had reached menarche. Overall, 83 % of these teenagers had dysmenorrhea. Symptoms were reported to occur since the first periods in 59 % of the girls. School absenteeism was positively correlated with severe abdominal pain (p = 0.001). Median age at menarche was 11 years (10.7–11.5). Periods lasted less than 3 days, 3–8 days, and more than 8 days in, respectively, 18 %, 70 %, and 7 % of the girls. Symptoms were significantly more frequent and more severe in the urban group than the rural group (p = 0.005). Symptoms were abdominal pain (70 %), fatigue (48 %), difficulty in concentrating (26 %), headache (25 %), digestive disorders (16 %), and breast discomfort (11 %). Of the girls with dysmenorrhea, 61 % took painkillers; 10 % were uncomfortable despite taking painkillers. Sport exemption was more frequent in the urban group (p = 0.003) and among girls with severe abdominal pain (p = 0.001).

Conclusions

The duration of the menstrual cycle was similar between the various socioeconomic groups, but symptoms and ways of coping were significantly different. Dysmenorrhea is definitely an issue that has to be raised with teenagers as soon as menarche occurs or even before that. Easy access to skilled health practitioners should be widespread.

Background

Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a de novo partial trisomy 13q combined with a terminal deletion in an 11-day-old girl.

Methods

From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used.

Results

Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was de novo. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q.

Conclusion

This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype–phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.

Background

Intramuscular injections, which children frequently experience during hospitalization, are one of the most significant causes of pain. Pain control is an important part of care. Therefore, it is necessary to provide practical methods in the field of nursing care to reduce injection-related pain.

Aim

This study aimed to determine the effect of the Helfer skin tap technique on pain, anxiety, and fear in children undergoing intramuscular injection.

Method

This randomized controlled clinical study (NCT05250804) was conducted in a pediatric emergency department between January and July 2022. A total of 64 children aged 4–10 years were randomly divided into two groups: 32 children in the Helfer skin tap group (HG), and 32 children in the control group (CG). Data were collected using the Wong–Baker FACES Pain Rating Scale, the Child Anxiety Scale–State, and the Child Fear Scale.

Results

After the intramuscular injection, children in the HG had significantly lower levels of pain, anxiety, and fear than those in the CG, with mean scores of 3.25±1.50 versus 5.18±1.51, 5.87±1.56, versus 6.23±1.46, and 1.68±0.53 versus 3.15±0.76, respectively (p<0.001 for all scores).

Conclusion

The Helfer skin tap technique has positive effects on pain, anxiety, and fear in children during intramuscular injection. This technique can be used by nurses to reduce the pain, anxiety, and fear felt by children receiving an intramuscular injection.