Biology subjects

Neul, J. L.

Publications and source records attributed to Neul, J. L..

3 recordsLinked to original sources

bioRxiv2023

Learning about neurodiversity from parents - auditory gestalt perception of prelinguistic vocalisations

BackgroundInfants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous ones. Aims and methodsExtending a previous study with predominantly non-parents, the present study sampled parents of children with RTT and aimed to examine their gestalt perception of prelinguistic vocalisations. Methods and procedureParents (n = 76) of female children with RTT listened to vocalisation recordings from RTT and typically developing (TD) infants, including an inconspicuous vocalisation from a RTT girl. For each recording, parents indicated if the vocalisation was produced by a RTT or a TD child. ResultsOverall correct to incorrect identification rate was 2:1, which was comparable to that of the previous study. Intriguingly, parents of RTT children seemed to be sensitive to features characterising the vocalisations of RTT infants, which has especially influenced their perception of the inconspicuous vocalisation from a RTT girl. Conclusions and implicationsThese results invite further research on the potential characterising differences between vocalisations from TD infants and infants with divergent neurodevelopment. What this paper adds?Previous studies suggested that parents observations of their childrens behaviour are insightful and could aid clinical diagnosis. There is evidence that non-parents also seem to be sensitive to typical versus atypical characteristics in infant development. As normal and divergent developmental behaviours are often overlapping with each other, detecting deviant development is often difficult. For example, atypical vocalisations of infants later diagnosed with Rett syndrome (RTT) are often interspersed with their more typical and inconspicuous vocalisations. Can we learn extras from parents about divergences in prelinguistic vocalisations? The current study extended previous research and focused on the auditory gestalt perception of parents. We found parents of children with RTT were sensitive to the characterising differences between vocalisations from RTT and typically developing (TD) infants. They differentiated RTT vocalisations from TD vocalisations, even the RTT vocalisation was benchmarked as inconspicuous by speech-language experts. The characterising features that point to RTT, which seem to be perceptible to parents, might be more than the conspicuousness that could be readily classified by experts. What we have learned from parents perceptions motivates further research on the potential characterising features in prelinguistic vocalisations from different infants, especially in vocalisations that sound inconspicuous to experts and professionals, which may help to refine our understandings of diverse vocalisation patterns on the one hand, and to identify infants with neurodevelopmental divergences on the other hand.

developmental biology↗

bioRxiv2022

Behavioral and imaging analysis of Foxg1 heterozygous mice

FOXG1 Syndrome (FS) is a devastating neurodevelopmental disorder that is caused by a heterozygous loss-of-function (LOF) mutation of the FOXG1 gene, which encodes a transcriptional regulator important for telencephalic brain development. People with FS have marked developmental delays, impaired ambulation, movement disorders, seizures, and behavior abnormalities including autistic features. Current therapeutic approaches are entirely symptomatic, however the ability to rescue phenotypes in mouse models of other genetic neurodevelopmental disorders such as Rett syndrome, Angelman syndrome, and Phelan-McDermid syndrome by postnatal expression of gene products has led to hope that similar approaches could help modify the disease course in other neurodevelopmental disorders such as FS. While FoxG1 protein function plays a critical role in embryonic brain development, the ongoing adult expression of FoxG1 and behavioral phenotypes that present when FoxG1 function is removed postnatally provides support for opportunity for improvement with postnatal treatment. Here we generated a new mouse allele of Foxg1 that disrupts protein expression and characterized the behavioral and structural brain phenotypes in heterozygous mutant animals. These mutant animals display changes in locomotor behavior, gait, anxiety, social interaction, aggression, and learning and memory compared to littermate controls. Additionally, they have structural brain abnormalities reminiscent of people with FS. This information provides the framework for future studies to evaluate the potential for post-natal expression of FoxG1 to modify the disease course in this severe neurodevelopmental disorder.

neuroscience↗

bioRxiv2021

Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes

BackgroundAdequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared to typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS) and Prader-Willi (PWS) syndromes in order to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes to each other, and to typically developing controls. MethodsChildren were recruited from the Rare Diseases Clinical Research Network (RDCRN) consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including: Pediatric Sleep Questionnaire (Sleep-Disordered Breathing [SDB]); Childrens Sleep Habits Questionnaire; Pediatric Daytime Sleepiness Scale. ResultsSleep data were analyzed from 714 participants, ages 2-18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared to individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances which were associated with each of the genetic syndromes. ConclusionsIndividuals with RTT, AS and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

genetics↗