Early identification and awareness of child abuse and neglect among physicians and teachers.

BACKGROUND: Child abuse and neglect (CAN) causes enormous suffering for those affected. OBJECTIVE: The study investigated the current state of knowledge concerning the recognition of CAN and protocols for suspected cases amongst physicians and teachers. METHODS: In a pilot study conducted in Mecklenburg-Western Pomerania from May 2020 to June 2021, we invited teachers and physicians working with children to complete an online questionnaire containing mainly multiple-choice-questions. RESULTS: In total, 45 physicians and 57 teachers responded. Altogether, 84% of physicians and 44% of teachers were aware of cases in which CAN had occurred in the context of their professional activity. Further, 31% of physicians and 23% of teachers stated that specific instructions on CAN did not exist in their professional institution or that they were not aware of them. All physicians and 98% of teachers were in favor of mandatory training on CAN for pediatric residents and trainee teachers. Although 13% of physicians and 49% of teachers considered a discussion of a suspected case of CAN to constitute a breach of confidentiality, 87% of physicians and 60% of teachers stated that they would discuss a suspected case with colleagues. CONCLUSION: Despite the fact that a large proportion of respondents had already been confronted with suspected cases of CAN, further guidelines for reporting procedures and training seem necessary. There is still uncertainty in both professions on dealing with cases of suspected CAN.

[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?] / Chorioretinale Atrophie bei kindlichem zerebralem Folatmangel ­ eine vermeidbare Erkrankung?

Cerebral folate deficiency (CFD) results in neurological alterations and a massive degeneration of the choroid/retina if left untreated, which limit the visual field and visual acuity. This article reports the case of a female patient with CFD, who developed autistic personal characteristics prior to reaching school age and first started to speak at the age of 3 years. At the age of 6 years she was presented because of unclear reduced visual acuity in the right eye. At that time mild bilateral peripheral chorioretinal atrophy was present, which subsequently became more pronounced. Additionally, a centrally emphasized chorioretinal atrophy further developed. Visual acuity of both eyes progressively deteriorated until stagnating at 0.1 at the age of 14 years. The causal assignment of the findings of the patient was not possible for many years. Choroideremia was excluded by molecular genetic testing (CHM gene with no mutations) and gyrate atrophy was ruled out by a normal ornithine level. The existence of a mitochondrial disease was almost completely excluded by exome sequencing. After the onset of further nonocular symptoms, e.g. neuromuscular disorders, electroencephalograph (EEG) alterations and autistic disorder, intensified laboratory diagnostics were performed in the treating pediatric hospital. Finally, an extremely low level of the folic acid metabolite 5­methyltetrahydrofolate was detected in the cerebrospinal fluid (CSF) leading to the diagnosis of CFD. High-dose substitution treatment with folic acid was subsequently initiated. After excluding the presence of a pathogenic mutation of the FOLR1 gene for the cerebral folate receptor 1, a high titer blocking autoantibody against cerebral folate receptor 1 was detected as the cause.