Anne Gaelle Le Moing

This study investigates assessment of Specific Learning Disorders (SLD) in Twice‐Exceptional (TE) children, gifted children (GC) who also present SLD, in oral and written language domains. Applying the standard threshold for identification (< 7th percentile) to GC often results in the assessment and identification of SLD in the TE population, thereby limiting access to appropriate support. The objective was to determine which language tests effectively identify SLD in TE children and establish optimal threshold values. The prospective study included 301 children 7–16 years, divided into three groups: GC without SLD ( n = 71), TE children ( n = 114), and non‐gifted children with SLD ( n = 116). Language test performances were compared across groups, and Classification and Regression Tree (CART) analyses were employed to optimize test sensitivity and specificity in the TE group. TE children performed better than the SLD group but worse than GC without disorders. At standard thresholds, text reading and spelling tests showed the highest sensitivity, which significantly improved when CART‐derived decision thresholds (62nd and 38th percentiles) were applied, while maintaining satisfactory specificity. Results indicate that standard thresholds lead to under‐identification of SLD in GC, and that adjusted thresholds enhance identification accuracy. These findings should generalize to similarly complex languages, such as English.

Medical child abuse (MCA) and factitious disorder imposed on another (FDIA) do not describe the same person. MCA is a diagnosis given to a child harmed by unnecessary medical care initiated by a caregiver; FDIA is a psychiatric diagnosis given to the adult who falsifies illness in another. This review summarises the clinical features, diagnosis and management of MCA in children and relates MCA to FDIA and to the British concepts of fabricated or induced illness (FII) and perplexing presentations (PP). Structured narrative review of PubMed, last updated in September 2026, using the terms Munchausen syndrome by proxy, factitious disorder by proxy, medical child abuse, FDIA, pediatric condition falsification, caregiver-fabricated illness in a child, FII and PP, without age restriction for the perpetrator literature. Of 33,296 records identified, 131 sources were retained after independent screening by two reviewers. A qualitative synthesis was performed. MCA is defined by harm to the child, whatever the caregiver’s motivation. FDIA is one possible explanation of the caregiver’s behaviour, alongside anxiety, misinterpretation of symptoms, external gain or coaching of the child. FII and PP describe the same situations from the paediatrician’s standpoint, PP corresponding to alerting signs before harm is established. Warning signs converge across terminologies: discrepancy between reported and observed findings, multiple providers, escalating investigations, improvement in the caregiver’s absence. Conclusion: Paediatricians diagnose MCA from the child’s care trajectory; the caregiver’s diagnosis belongs to adult psychiatry and is not required to protect the child. Keeping the two diagnoses separate may support earlier recognition and safer management. What is Known: • Medical child abuse and factitious disorder imposed on another are underdiagnosed and described under several national terminologies. • Terms are often used interchangeably, blurring who is diagnosed and by whom. What is New: • The terminologies are mapped onto one distinction: the child’s diagnosis versus the adult’s diagnosis. • A shared set of alerting signs supports child protection without inferring the caregiver’s intent.

DNM1L-related disorders encompass a broad phenotypic spectrum, ranging from isolated neurological manifestations to severe multisystemic disease. Cardiac involvement is increasingly observed in a subgroup of patients and may be associated with particularly severe phenotypes.We report the case of a child with lethal epileptic encephalomyopathy and hypertrophic cardiomyopathy, in whom a de novo heterozygous DNM1L variant, c.117C>G, p.(Ser39Arg), affecting the GTPase domain of the DRP1 protein, has been identified.Other substitutions involving the same residue have previously been reported: p.(Ser39Asn), in a patient with a remarkably similar encephalocardiomyopathy phenotype, and p.(Ser39Gly) in a patient with severe neurological disease without cardiac involvement. A comparison of our case with other published cases suggests that cardiac manifestations and the clinical course may vary depending on the protein domain affected and, possibly, on the specific amino acid substitution. This observation further supports the clinical relevance of the Ser39 residue and highlights the importance of cardiac monitoring in patients with disorders associated with DNM1L variations.

Objective: To evaluate the impact of cannabidiol (CBD) on quality of life (QoL) in children with drug-resistant epilepsy at Amiens Picardie University Hospital (France), with seizure control as a secondary outcome.Methods: This single-center, retrospective observational study included 30 children aged 3–18 years with drug-resistant epilepsy treated with CBD. Quality of life was assessed before and after treatment using the QOLCE-76 questionnaire. Seizure frequency evolution was analyzed as a secondary endpoint.Results: Mean age was 9.7 ± 5.0 years; 63% were male. Lennox-Gastaut syndrome and related conditions accounted for 75% of the cohort. The global QOLCE score improved significantly after CBD treatment (129 ± 69.2 vs. 149 ± 82.3; p < 0.01, mean Δ = +19.7). Significant improvements were observed in behavior (p = 0.014), well-being (p = 0.016), cognition (p < 0.01), physical activities (p = 0.039), and social interactions (p = 0.02). A ≥50% seizure reduction was achieved in 63% of patients (19/30) at a mean dose of 16 mg/kg/day, with good tolerability and no serious adverse events.Significance: CBD treatment was associated with statistically and clinically significant QoL improvement across multiple domains in children with drug-resistant epilepsy. Seizure frequency reduction was observed in the majority of patients. These findings support earlier consideration of CBD in complex pediatric epilepsies and highlight the need for prospective, randomized controlled trials to confirm these results.

Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel. Among them were one deep intronic variant c.998+1669A>G, one large deletion encompassing exon 9 and 10, and a silent change c.750A>G. Transcript analysis performed on patients’ lymphoblastoid cell lines revealed the creation of a donor splice site by c.998+1669A>G, resulting in a 140 bp pseudoexon insertion in intron 10. Variant c.750A>G produced exon 8 skipping. In silico and in cellulo studies of these variants allowed us to assign the pathogenic effect, and showed that the combination of at least one severe variant with a moderate one leads to isolated retinal dystrophy, whereas the combination in trans of two severe variants is responsible for early onset severe retinal dystrophy in the context of late-infantile neuronal ceroid lipofuscinosis.