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Background and Objective: CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications (ASMs) in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database. Methods: Data for this retrospective cohort study were obtained from the International CDKL5 Disorder Database, which contains responses from a baseline questionnaire administered between 2012 and 2022 and a follow-up questionnaire administered between 2018 and 2019. Families of eligible individuals were asked to provide information on ASMs that were previously and currently taken, the dose prescribed, the age at starting the medications, and the age at discontinuation for past medications. The outcome variables of interest were perceived seizure-related benefits for the current and past use of ASMs and caregiver-reported side effects. Rescue medications and infrequently used ASMs were excluded from the analysis. Descriptive statistics were used to summarise the characteristics of the study population. Results: The study included 399 children and adults with CDKL5 deficiency disorder, descriptively analysing the perceived benefits and side effects of 23 unique ASMs based on caregiver reports. The study identified levetiracetam, topiramate, sodium valproate, vigabatrin, phenobarbital and clobazam as the most used ASMs. Notably, cannabidiol showed highly beneficial outcomes with few side effects, whereas levetiracetam and phenobarbital exhibited less favourable benefit-to-side-effect ratios. Dual therapy involving sodium valproate and levetiracetam was only used a small number (n = 5) of times but appeared effective in reducing seizure activity with relatively few side effects. Compared with monotherapy, polytherapy had a relatively higher likelihood of reported side effects than benefits. Conclusions: The study, leveraging a large sample size that exceeds that of previous research, emphasises the complex nature of seizure management in CDKL5 deficiency disorder. Our findings underscore the necessity of ongoing research to optimise treatment strategies, considering both the efficacy of seizure control and the potential for adverse effects. The study also points to the need for future investigations into the therapeutic potential of emerging treatments such as ganaxolone and the unresolved efficacy of cannabis products in seizure management. [ABSTRACT FROM AUTHOR]

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist (CSBS–DP ITC). Caregivers (n = 150; affected individuals aged 1–29 years) completed the CSBS-DP ITC. Distribution of scores indicated a floor effect. There was poor divergent validity for the three-factor model but goodness of fit and convergent validity data were satisfactory for the one-factor model. Individuals with poorer overall functional abilities scored lower on the CSBS-DP ITC. Test–retest reliability was excellent. The floor effect could explain the very high reliability, suggesting problems as a sensitive outcome measure in clinical trials for CDD. [ABSTRACT FROM AUTHOR]

Understanding hospital service use among children with a diagnosis of craniosynostosis (CS) is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. Data on live births (1990–2010; n = 554,624) including craniosynostosis, episodes of death, demographic, and perinatal factors were identified from the midwives, birth defects, hospitalizations, and death datasets. Information on craniosynostosis and non-craniosynostosis-related admissions, cumulative length of hospital stay (cLoS), intensive care unit, and emergency department–related admissions were extracted from the hospitalization dataset and linked to other data sources. These associations were examined using negative binomial regression presented as annual percent change and associations of hospitalizations by age groups, demographic, and perinatal factors were expressed as incidence rate ratio (IRR). We found an increasing trend in incident hospitalizations but a marginal decline in cLoS for craniosynostosis over the observed study period. Perinatal conditions, feeding difficulties, nervous system anomalies, respiratory, and other infections contributed to majority of infant non-CS-related admissions.Respiratory infections accounted for about twice the number of admissions for individuals with CS (IRRs 1.94–2.34) across all observed age groups. Higher incidence of non-CS hospitalizations was observed among females, with associated anomalies, to families with highest socioeconomic disadvantage and living in remote areas of the state. Conclusion: Marginal reduction in the cLoS for CS-related admissions observed over the 21-year period are potentially indicative of improved peri-operative care. However, higher incidence of respiratory infection-related admissions for syndromic synostosis is concerning and requires investigation. [ABSTRACT FROM AUTHOR]

Preterm birth is a global public health problem with a significant burden on the individuals affected. The study aimed to extend current research on preterm birth prognostic model development by developing and internally validating models using machine learning classification algorithms and population-based routinely collected data in Western Australia. The longitudinal retrospective cohort study involved all births in Western Australia between 1980 and 2015, and the analytic sample contains 81,974 (8.6%) preterm births (< 37 weeks of gestation). Prediction models for preterm birth were developed using regularised logistic regression, decision trees, Random Forests, extreme gradient boosting, and multi-layer perceptron (MLP). Predictors included maternal socio-demographics and medical conditions, current and past pregnancy complications, and family history. Class weight was applied to handle imbalanced outcomes and stratified tenfold cross-validation was used to reduce overfitting. Close to half of the preterm births (49.1% at 5% FPR, 95% CI 48.9%,49.5%) were correctly classified by the best performing classifier (MLP) for all women when current pregnancy information was available. The sensitivity was boosted to 52.7% (95% CI 52.1%,53.3%) after including past obstetric history in a sub-population of births from multiparous women. Around half of the preterm birth can be identified antenatally at high specificity using population-based routinely collected maternal and pregnancy data. The performance of the prediction models depends on the available predictor pool that is individual and time specific. [ABSTRACT FROM AUTHOR]

Crustaceans were among the most valuable fishery resources in Hong Kong. However, the unrestricted and intensive use of different fishing gears, especially bottom trawling, has led to the depletion of commercially important crustaceans in Hong Kong since the 1980s. This study investigated whether commercial crustaceans recovered after the implementation of a permanent Hong Kong-wide trawl ban that began on December 31, 2012. Standardized field surveys were conducted using a commercial shrimp trawler at two sites in eastern and western waters of Hong Kong before (2004) and after the trawl ban (2013–2014 and 2015–2016) and two sites in southern waters after the trawl ban. Diversity, mean size, abundance, biomass and level of disturbance of commercial crustaceans from the three periods were investigated. The eastern waters exhibited an increased diversity of crustacean assemblages in Inner Tolo, and a higher abundance and biomass of crabs were detected in Outer Tolo after the trawl ban. Reduced disturbance, higher diversity in crustacean assemblages and greater abundance and biomass of predatory crabs were observed after the trawl ban in the outer estuary of western waters, and increased abundance and biomass of shrimp were detected in the inner estuary of western waters. No temporal or negative changes were detected in the southeast and southern waters of Lamma Island. The various responses of crustacean assemblages in Hong Kong waters revealed the critical role of complex interactions among multiple stresses, such as ongoing reclamation works, illegal trawling activities and increased fishing efforts using other (legal) fishing methods. [ABSTRACT FROM AUTHOR]

Biology of planktonic stomatopod larvae has long remained poorly understood and often considered "black boxes" in life history studies. From coralline crustose algal (CCA) reefs at Datan, Taoyuan, Taiwan, using light traps recently designed, we collected considerable number of stomatopod larvae and juveniles. Applying DNA barcoding techniques using mitochondrial cytochrome oxidase I (COI) and 16S ribosomal RNA (16S rRNA) gene sequences, 14 morphotypes were revealed to represent 12 distinct species, seven of which identified to species level by comparing against reference sequences available from online source (GenBank), whereas the other five do not cluster with any known sequences. All stomatopod larvae and juveniles were described and illustrated. We report Manningia pilaensis (De Man, 1888) and Levisquilla jurichi (Makarov, 1979) as new records of the stomatopod fauna of Taiwan and confirm the validity of Lysiosquillina maculata (Fabricius, 1793). Based on material we acquired from light traps, which include propelagic antizoea larvae (of L. maculata), and also postlarval and juvenile forms (of various squillid species), both positively phototactic, indicating the current understanding of negative-positive-negative phototactic tendency from early planktonic to postlarval stages through the development of stomatopod larvae, might not be as distinct as previously described. [ABSTRACT FROM AUTHOR]

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed but clinical profiles are rarely compared. Diagnostic data from children with ASD notified to the Western Australian Register for Autism Spectrum Disorders were analysed according to maternal-race ethnicity and country of birth. A total of 4776 children aged between 0 and 18 years diagnosed with ASD from 1999 to 2017 were included. Those born to immigrant mothers from lower income countries were younger at the time of diagnosis, had an increased risk of intellectual disability and poorer presentations in the social and communication domains. Further work is required to understand environmental influences that may affect children born to immigrant mothers and to improve monitoring and assessments. [ABSTRACT FROM AUTHOR]

Little longitudinal research has examined parental well-being in those with a child with specific genetic developmental disorder although the associated severe neurological impairments and multiple physical comorbidities likely place substantial burden of caregiving on the parent. We aimed to examine longitudinally the well-being of parents of individuals included in the Australian Rett Syndrome Database over the period from 2002 to 2011 using the Short Form 12 Health Survey. Residential remoteness, the child being a teenager at baseline, having frequent sleep disturbances or behavioural problems, and the type of MECP2 gene mutation were each associated with later poorer parental physical well-being scores. Being a single parent or on a low income was also associated with later poorer physical well-being, while the child having enteral feeding was associated with later poorer emotional well-being. Both the physical and emotional well-being of the parent improved if the child was living in out-of-home care. Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being. Being alert to the possibility and need for management of a child's sleep or emotional disturbance is important as is awareness of the additional likely parental burden as the child moves through adolescence into early adulthood and their need for additional support at that time. However, the findings also highlight the complex nature of parental well-being over time in parents of children with a severe neurological disorder and how they may be affected by a range of inter-related family and child factors. [ABSTRACT FROM AUTHOR]

The largest group of recipients of pediatric gastrostomy have neurological impairment with intellectual disability (ID). This study investigated trends in first gastrostomy insertion according to markers of disadvantage and ID etiology. Linked administrative and health data collected over a 32-year study period (1983-2014) for children with ID born between 1983 and 2009 in Western Australia were examined. The annual incidence rate change over calendar year was calculated for all children and according to socioeconomic status, geographical remoteness, and Aboriginality. The most likely causes of ID were identified using available diagnosis codes in the linked data set. Of 11,729 children with ID, 325 (2.8%) received a first gastrostomy within the study period. The incidence rate was highest in the 0-2 age group and there was an increasing incidence trend with calendar time for each age group under 6 years of age. This rate change was greatest in children from the lowest socioeconomic status quintile, who lived in regional/remote areas or who were Aboriginal. The two largest identified groups of ID were genetically caused syndromes (15.1%) and neonatal encephalopathy (14.8%).Conclusion: Gastrostomy is increasingly used in multiple neurological conditions associated with ID, with no apparent accessibility barriers in terms of socioeconomic status, remoteness, or Aboriginality. What is Known: • The use of gastrostomy insertion in pediatrics is increasing and the most common recipients during childhood have neurological impairment, most of whom also have intellectual disability (ID). What is New: • Nearly 3% of children with ID had gastrostomy insertion performed, with the highest incidence in children under 3 years of age. • Gastrostomy use across different social groups was equitable in the Australian setting. [ABSTRACT FROM AUTHOR]

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations. [ABSTRACT FROM AUTHOR]

Whilst the transition from school to adult roles can be challenging for any adolescent, for those with an intellectual disability it can present as a particularly difficult time both for the individual and their family. The process may involve coordinated planning, collaboration and decision-making among school staff, families and community agencies. This mixed-methods study utilised information from two cohorts: young people with Down syndrome in Western Australia ( n = 190) and young people with intellectual disability (of any cause) in Queensland, Australia ( n = 150). The parent-report questionnaires administered in both states comprised two parts: part 1 collected information about the individual with intellectual disability including information on health, functioning and service needs, and about specific transition related issues; and part 2 collected information about the health and well-being of their family. The majority (87 %) of parents said that they were involved in decision-making about transition planning but less than two-thirds (59.5 %) of young people were involved in this process. The three most helpful strategies indicated by parents that assisted with transition planning related to the provision of more information about financial assistance, the school transition program and the building of informal community-based supports. A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood, their difficulty navigating services and programs, issues and challenges around their young person building connectedness, strain on family wellbeing and finances and worry about the longer term future. [ABSTRACT FROM AUTHOR]