《儿科理论与临床实践》

Objective: This study aimed to assess the quality of life (QoL) of parents/caregivers of children with cleft lip and palate (CLP) using the Impact on Family Scale (IOFS).
Methods: Families of children requiring primary or secondary CLP repair were recruited based on the inclusion criteria. The IOFS questionnaire was utilized to assess perceived QoL. Multiple logistic regression was employed to determine factors linked to impacted QoL.
Results: Out of the 192 families contacted, 177 participated (92.2%). The patients had a mean age of 8.9 ± 5.4 months, with a majority of families residing in rural areas (67.2%). The questionnaires assessed QoL before surgery, revealing a mean total QoL score of 68.8 ± 19.4, with 49.7% of families experiencing affected QoL. The analysis demonstrated a significant association between the female sex of parents/caregivers and a more impacted QoL (p = 0.018), as well as between the absence of a history of CLP in the family and a more affected QoL (adjusted odds ratio = 3.0; 95% CI: 1.3 – 6.7; p = 0.008).
Conclusion: Caring for a child with CLP significantly decreases parents/caregivers’ QoL in all domains. The results emphasize the significance of considering the family history of CLP and the gender of the parents in the comprehensive care of affected families.

Anencephaly is a congenital malformation caused by neural tube failure, which can be managed through folic acid intake during pregnancy. Diagnosis is typically prenatal, and termination of pregnancy is often recommended. A newborn born at Kolwezi paediatric clinic was born with a visible congenital malformation. The mother had a low socio-economic background and was 41 years old. An ultrasound scan revealed a progressing pregnancy at 30 weeks gestation with polyhydramnios. No antenatal care monitoring or folic acid prophylaxis was implemented during the periconceptional period and throughout the pregnancy. Anencephaly diagnosis was confirmed, and the newborn died five minutes post-birth. Preventive folic acid treatment has shown a decrease in neural tube defects, and first-trimester ultrasound scans can help identify life-incompatible congenital malformations. Advocating for legislative measures and genetic counselling is crucial to educate parents on recurrence risks and the advantages of folic acid supplementation before subsequent pregnancies.