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The appearance of language or behavioral regression in previously normal children is a devastating experience for both the family and the patients. In some cases, evaluation with prolonged sleep electroencephalograms ( EEGs ) reveals a dramatic activation of epileptiform activities. These may be continuous and diffusely appearing spike-wave discharges in slow-wave sleep, also known as 'electrical status epileptic us in sleep' (ESES), or they may be more focal but very frequent temporal, centrotemporal, or multifocal spikes. The typical syndromes are the encephalopathy associated with ESES or continuous spike waves during slow-wave sleep (CSWS) and Landau-Kleffner syndrome (LKS). A significant minority of children with pre-existing impairments in sociability, communication, and behavior, typical of autistic spectrum disorders, may manifest epileptiform abnormalities, which perhaps further exacerbate the language or neuropsychiatric dysfunction. Patients with autistic regression with epileptiform EEGs (AREE) may have clinical and electrographic similarities with CSWS or LKS children. In this review, we will summarize the existing knowledge about these syndromes and the existing therapeutic strategies. Awareness about these syndromes is of paramount importance in order to implement early detection and treatment, which may ameliorate the outcome.KEY WORDS. Autism, autistic regression, centrotemporal spikes, electrical status epilepticus in sleep, epilepsy, Landau-Kleffner syndrome, Rett syndrome. [ABSTRACT FROM AUTHOR]

Background: Gastro-oesophageal reflux (GOR) affects nearly half of infants. Parents play a crucial role in management but more understanding of their attitudes and experiences is needed to inform future education, support and research. This study aims to explore parental experiences, attitudes and understanding of the symptoms, diagnosis and management of infant GOR., Methods: Qualitative semi-structured interviews with 9 parents of infants with GOR in the UK, analysed by thematic analysis., Results: 8 participants were mothers and median age was 34 years. Over half identified as White ethnicity. Parents described that GOR can affect all aspects of life, including mental wellbeing and bonding with their baby. Medications are time-consuming to prepare and can cause challenging side effects such as constipation. It is crucial that health professionals manage parental expectations in that treatments are not curative and symptoms do not last forever. Attitudes about healthcare professionals varied: some were perceived as dismissive, whilst some showed understanding. There were differences depending on whether the child was a first or second born child, with more understanding shown where the child was not the parents' first born. Parents felt more education could be beneficial for parents and clinicians., Conclusions: Infant GOR can affect infants and parents in a variety of ways, impacting both physical and mental health. Parents play a vital role in the management of infant reflux, but there is lack of consistency of information and levels of knowledge among healthcare professionals vary. More education could be beneficial, and further research is needed into health professionals' perceptions and fathers' experiences., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 McVicar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: Artificial intelligence-based large language models, like ChatGPT, have been rapidly assessed for both risks and potential in health-related assessment and learning. However, their applications in public health professional exams have not yet been studied. We evaluated the performance of ChatGPT in part of the Faculty of Public Health's Diplomat exam (DFPH)., Methods: ChatGPT was provided with a bank of 119 publicly available DFPH question parts from past papers. Its performance was assessed by two active DFPH examiners. The degree of insight and level of understanding apparently displayed by ChatGPT was also assessed., Results: ChatGPT passed 3 of 4 papers, surpassing the current pass rate. It performed best on questions relating to research methods. Its answers had a high floor. Examiners identified ChatGPT answers with 73.6% accuracy and human answers with 28.6% accuracy. ChatGPT provided a mean of 3.6 unique insights per question and appeared to demonstrate a required level of learning on 71.4% of occasions., Conclusions: Large language models have rapidly increasing potential as a learning tool in public health education. However, their factual fallibility and the difficulty of distinguishing their responses from that of humans pose potential threats to teaching and learning., (© 2024. The Author(s).)

The diagnosis and management of movement disorders in children can be improved by understanding the pathways, neurons, ion channels, and receptors involved in motor learning and control. In this Review, we use a localisation approach to examine the anatomy, physiology, and circuitry of the basal ganglia and highlight the mechanisms that underlie some of the major movement disorders in children. We review the connections between the basal ganglia and the thalamus and cortex, address the basic clinical definitions of movement disorders, and then place diseases within an anatomical or physiological framework that highlights basal ganglia function. We discuss how new pharmacological, behavioural, and electrophysiological approaches might benefit children with movement disorders by modifying synaptic function. A better understanding of the mechanisms underlying movement disorders allows improved diagnostic and treatment decisions., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo , maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma. Her two affected children share some of these clinical characteristics, and have severe ASD. Several tissues in the mother, including blood, skin, a kidney tumor, and normal kidney margin tissues were studied for the presence of the 15q11-q13.1 duplication. We show the mother has somatic mosaicism for the duplication in several tissues to varying degrees. A growth competition assay in two types of stem cells from duplication 15q individuals was also performed. Our results suggest that the presence of this interstitial duplication 15q chromosome may confer a previously unknown growth advantage in this particular individual, but not in the general interstitial duplication 15q population.

Background: Tics and Tourette syndrome are common problems evaluated by both the general pediatrician and pediatric neurologist. The common comorbidities of tics are well known, but the severe neurological complications are rare and may not be appreciated., Methods: This is a retrospective case series and literature review., Results: We present here four adolescents with Tourette syndrome who had severe neurological complications secondary to motor tics. We provide the history, neurological examination, and radiological findings in addition to a review of previously reported cases of vascular and cervical cord complications associated with violent motor tics., Conclusions: We highlight the importance of recognizing the presenting signs of these complications early and the need to vigorously treat violent motor tics to prevent significant neurological complications., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum., (© 2013 International Society for Autism Research, Wiley Periodicals, Inc.)

Few studies have compared gastrointestinal problems in children with an autism spectrum disorder with and without a history of language regression. A cross-sectional study was conducted with structured interviews in 100 children with autism spectrum disorder, using a gastrointestinal questionnaire and a familial autoimmune questionnaire. By parental report, children with language regression more frequently exhibited an abnormal stool pattern (40% vs 12%, P = 0.006) and had an increased family history of celiac disease or inflammatory bowel disease (24% vs 0%, P = 0.001) and of rheumatoid arthritis (30% vs 11%, P = 0.03). Among 35 children with a family history of autoimmune disease, an abnormal stool pattern was reported more frequently in those with language regression (78% vs 15%, P = 0.001) than in those without. An association was observed between children with language regression, a family history of autoimmune disease, and gastrointestinal symptoms. Additional studies are needed to examine a possible shared autoimmune process.

This is a cross-sectional study that compares lifetime prevalence of gastrointestinal (GI) symptoms in children with autistic spectrum disorders (ASDs) and children with typical development and with other developmental disabilities (DDs) and examines the association of GI symptoms with a family history of autoimmune disease. A structured interview was performed in 50 children with ASD and 2 control groups matched for age, sex, and ethnicity-50 with typical development and 50 with other DDs. Seventy-four percent were boys with a mean age of 7.6 years (SD, +/-3.6). A history of GI symptoms was elicited in 70% of children with ASD compared with 28% of children with typical development (p <.001) and 42% of children with DD (p =.03). Abnormal stool pattern was more common in children with ASD (18%) than controls (typical development: 4%, p =.039; DD: 2%, p =.021). Food selectivity was also higher in children with ASD (60%) compared with those with typical development (22%, p =.001) and DD (36%, p =.023). Family history of autoimmune disease was reported in 38% of the ASD group and 34% of controls and was not associated with a differential rate of GI symptoms. In the multivariate analysis, autism (adjusted odds ratio (OR), 3.8; 95% confidence interval (CI), 1.7-11.2) and food selectivity (adjusted OR, 4.1; 95% CI, 1.8-9.1) were associated with GI symptoms. Children with ASD have a higher rate of GI symptoms than children with either typical development or other DDs. In this study, there was no association between a family history of autoimmune disease and GI symptoms in children with ASD.