UNASSIGNED: Landau-Kleffner syndrome (LKS) is a rare epileptic encephalopathy characterized by language regression and abnormal electroencephalogram (EEG) patterns. This case report highlights the importance of early recognition and intervention in LKS, as well as the challenges in diagnosis and management due to its varied clinical manifestations.
UNASSIGNED: An 8-year-old girl presented with delayed speech, suspected hearing loss, and regression in language skills. Diagnostic tests revealed mild sensorineural hearing loss and EEG abnormalities consistent with LKS. The patient underwent speech therapy and received pharmacological treatment with valproic acid, resulting in significant improvements in language function.
UNASSIGNED: This case report provides insights into the typical features of LKS, including language regression and EEG abnormalities. It also highlights uncommon findings such as sensorineural hearing loss and mild intellectual delay. The multidisciplinary approach involving neurology, audiology, speech therapy, and education is crucial in the diagnosis and management of LKS.
UNASSIGNED: Early recognition and intervention, along with tailored pharmacological approaches and a multidisciplinary care approach, are essential in managing LKS. Further research is needed to better understand the pathophysiology, natural history, and optimal treatment of LKS, aiming to improve long-term outcomes for affected children and their families.

UNASSIGNED: Electronic health record textual sources such as medication signeturs (sigs) contain valuable information that is not always available in structured form. Commonly processed through manual annotation, this repetitive and time-consuming task could be fully automated using large language models (LLMs). While most sigs include simple instructions, some include complex patterns.
UNASSIGNED: We aimed to compare the performance of GPT-3.5 and GPT-4 with smaller fine-tuned models (ClinicalBERT, BlueBERT) in extracting the average daily dose of 2 immunomodulating medications with frequent complex sigs: hydroxychloroquine, and prednisone.
UNASSIGNED: Using manually annotated sigs as the gold standard, we compared the performance of these models in 702 hydroxychloroquine and 22 104 prednisone prescriptions.
UNASSIGNED: GPT-4 vastly outperformed all other models for this task at any level of in-context learning. With 100 in-context examples, the model correctly annotates 94% of hydroxychloroquine and 95% of prednisone sigs to within 1 significant digit. Error analysis conducted by 2 additional manual annotators on annotator-model disagreements suggests that the vast majority of disagreements are model errors. Many model errors relate to ambiguous sigs on which there was also frequent annotator disagreement.
UNASSIGNED: Paired with minimal manual annotation, GPT-4 achieved excellent performance for language regression of complex medication sigs and vastly outperforms GPT-3.5, ClinicalBERT, and BlueBERT. However, the number of in-context examples needed to reach maximum performance was similar to GPT-3.5.
UNASSIGNED: LLMs show great potential to rapidly extract structured data from sigs in no-code fashion for clinical and research applications.

A three-year-old female patient was admitted to our institution due to subacute fever, intermittent vomiting, persistent bilateral mydriasis after cycloplegia, right central facial palsy, and mild right hemiparesis with hyperreflexia. Brain MRI shows encephalitis in frontal, parietal, insular, and left putamen course and loss of cortical volume and white matter of the entire left hemisphere which are features described in Rasmussen\'s encephalitis (RE). Therapy with intravenous methylprednisolone bolus was initiated, with adequate clinical response. We consider in this case the diagnosis of atypical RE by imaging criteria in the subacute stage. There are few reports of atypical RE without epilepsy or continuous partial epilepsy. Our purpose is to present a case of a patient with RE images without epilepsy seizures and review the diagnostic and therapeutic approach of RE.

Language regression (LR) is a consistent and reproducible phenomenon that is reported by ~25% of parents who have children with autism spectrum disorder (ASD). However, there is controversy regarding the etiological and clinical significance of this phenomenon. Here, we examined data from a cohort of 218 children with ASD from the Negev Autism Center in Israel. We identified 36 children with ASD who were reported to exhibit clear LR by their parent on three independent occasions and compared them to 104 children whose parents did not report any concern of regression (NR). We compared a variety of key developmental characteristics across these two groups. We found that the age at which children with ASD in the LR group achieve key developmental milestones of crawling, walking, and use of first words is significantly younger than the age of children in the NR group, and comparable to the age of typically developing children. In contrast, no differences were observed in physical growth characteristics such as head circumference, weight, or height between the groups. Furthermore, almost all children with LR were born close to full term (>35 weeks) and none had a history of hypotonia. Notably, despite their apparently typical early development, children with LR were diagnosed with more severe symptoms of ASD than children with NR. These results strengthen the motivation to continue and study LR among children with ASD and suggest that early detection and intervention studies of ASD may benefit from stratifying children into LR and NR groups. Autism Res 2020, 13: 145-156. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The presence of language regression (LR) among children with autism is still a matter of scientific debate. Here, we show that children with autism and reported LR start to crawl, talk, and walk at the same age as other typically developing children and significantly earlier than other children with autism. These findings, along with other medical differences between these groups, suggest that children who experienced LR comprise a distinct subgroup within the autism spectrum.

Language regression is observed in a subset of toddlers with autism spectrum disorder (ASD) as initial symptom. However, such a phenomenon has not been fully explored, partly due to the lack of definite diagnostic evaluation methods and criteria.
METHODS: Fifteen toddlers with ASD exhibiting language regression and fourteen age-matched typically developing (TD) controls underwent diffusion tensor imaging (DTI). DTI parameters including fractional anisotropy (FA), average fiber length (AFL), tract volume (TV) and number of voxels (NV) were analyzed by Neuro 3D in Siemens syngo workstation. Subsequently, the data were analyzed by using IBM SPSS Statistics 22.
RESULTS: Compared with TD children, a significant reduction of FA along with an increase in TV and NV was observed in ASD children with language regression. Note that there were no significant differences between ASD and TD children in AFL of the arcuate fasciculus (AF).
CONCLUSIONS: These DTI changes in the AF suggest that microstructural anomalies of the AF white matter may be associated with language deficits in ASD children exhibiting language regression starting from an early age.

The occurrence of developmental regression in autism spectrum disorder (ASD) is one of the most puzzling phenomena of this disorder. A little is known about the nature and mechanism of developmental regression in ASD. About one-third of young children with ASD lose some skills during the preschool period, usually speech, but sometimes also nonverbal communication, social or play skills are also affected. There is a lot of evidence suggesting that most children who demonstrate regression also had previous, subtle, developmental differences. It is difficult to predict the prognosis of autistic children with developmental regression. It seems that the earlier development of social, language, and attachment behaviors followed by regression does not predict the later recovery of skills or better developmental outcomes. The underlying mechanisms that lead to regression in autism are unknown. The role of subclinical epilepsy in the developmental regression of children with autism remains unclear.