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Aim: To investigate developmental trajectories in early childhood and predictors of class assignment. Methods: Data were available for Gen2 infants at 12 (n = 2275), 24 (n = 1845) and 36 (n = 2110) months of age in the Raine Study. Latent growth class analysis was used to identify developmental trajectories based on the Ages and Stages Questionnaire. Multivariate logistic regression analyses were used to estimate associations between foetal growth restriction, gestational age, child biological sex, breast feeding, parental age, socioeconomic factors and developmental trajectories. Results: Two groups of infants were identified, one typically performing and one poorer performing. Being born early-term, pre-term and male were associated with poorer development. Not exposed to breastfeeding was associated with the lower trajectories in the adaptive and personal-social domains. Conclusions: Developmental surveillance and advice for early-term infants should be considered. Findings highlight the continued need to support and promote breastfeeding as a protective mechanism for child development. [ABSTRACT FROM AUTHOR]

Objective : To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Data Source : Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. Main outcome measures : The outcome variables were hospital separation rates (HSR) (number of hospital separations divided by the estimated resident population [ERP] per year) and average length of stay (aLOS) (patient days divided by the number of hospital separations) with a diagnosis of CS. Trends in HSR and aLOS adjusted for age, sex, and type of CS were investigated by negative binomial regression presented as annual percent change (APC). Results : In 8057 admissions identified, we observed no significant change in the annual trend for HSR for the 22-year period. However, a marginal annual decrease of 1.6% (95% CI: -0.7, -2.4) in the aLOS was identified for the same time period. HSR were higher for males, infants, and single suture synostosis. aLOS was 3.8 days (95% CI: 3.8, 3.9) per visit, longer for syndromic conditions. Conclusion : There was a minor reduction in the average length of hospital stay for CS over the 22-year period potentially indicative of improved care. Population-level information on hospitalisations for rare craniofacial conditions can inform research, clinical, and surgical practice. [ABSTRACT FROM AUTHOR]

Objective: To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. Data Source: Population summary data for inpatient hospitals admissions (public and private) with a principal diagnosis of TCS (ICD10-AM-Q87.04) were obtained from the Australian Institute of Health and Welfare National Hospital Morbidity Database for a 11-year period (2002-2013). Main Outcome Measures: The primary outcome was hospital separation rate (HSR), calculated by dividing the number of hospital separations by estimated resident population per year. Trends in HSR s adjusted for age and sex were investigated by negative binomial regression presented as annual percent change and the association of rates with age and sex was expressed as incidence rate ratio. Results: In 244 admissions identified, we observed an increase of 4.55% (95% confidence interval [CI] −1.78, 11.29) in HSR's over the 11-year period. Rates were higher during infancy (1.87 [95% CI 1.42, 2.42]), declining markedly with increasing age. The average length of hospital stay was 6.09 days (95% CI 5.78, 6.40) per episode, but longer for females and infants. Conclusions: Findings indicate an increase in hospitalization rates, especially among infants and females which potentially relates to early airway intervention procedures possibly influenced by sex specific-disease severity and phenotypic variability of TCS. Awareness of the TCS phenotype and improved access to genetic testing may support more personalized and efficient care. Total-population administrative data offers a potential to better understand the health burden of rare craniofacial diseases. [ABSTRACT FROM AUTHOR]

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. Consultation with a cortical visual impairment experienced specialist and the Consumer Reference Group informed modifications to the instructions of the Rett Syndrome Hand Function Scale for children with CDKL5 deficiency disorder (CDD-Hand). Eighty-six families registered with the International CDKL5 Disorder Database provided video clips of their child's hand function and provided feedback about the measure. Video data were coded by 2 researchers to evaluate intra- and interrater reliability. This study provides initial evidence of validation and reliability. The scale appears to be suitable for a range of ages and functional abilities for CDKL5 deficiency disorder. [ABSTRACT FROM AUTHOR]

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents' experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. Thirty-seven semistructured interviews were conducted with parents of children with a diagnosis of CDD, which were coded and analyzed to identify themes. Grief was a nearly universal theme expressed among participants. Parents of younger children discussed grief in the context of receiving the diagnosis, whereas parents of older children indicated they were at different stages along the grieving journey when they received the diagnosis. Parents with less understanding of their child's prognosis (poorer prognostic awareness) connected their grief to receiving the diagnosis as this brought a clear understanding of the prognosis. Several themes suggested what providers did well to improve the diagnostic experience for parents, much of which aligns with existing literature around how to provide serious news. Additionally, parents identified long-term benefits of having a diagnosis for their child's medical problems. Although interview data were concordant with a survey of parents' diagnostic experience from a large international cohort, most participants in this study were relatively affluent, white mothers and further research is needed to better understand if other groups of parents have a different diagnostic experience. This study gives context of parental experience that providers should be aware of when conveying new genetic diagnoses to families. [ABSTRACT FROM AUTHOR]

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains. Consistent with US Food and Drug Administration (FDA) guidelines, content validation is the first step in evaluating the psychometric properties of an outcome measure. The aim of this study was to validate the content of the clinician-reported items in the CCSA (CCSA-Clinician). Eight neurologists leading the USA CDD Center of Excellence clinics were interviewed using the "think aloud" technique to critique 26 clinician-reported items. Common themes were aggregated, and a literature search of related assessments informed item modifications. The clinicians then participated in 2 consensus meetings to review themes and finalize the items. A consensus was achieved for the content of the CCSA-Clinician. Eight of the original items were omitted, 11 items were added, and the remaining 18 items were revised. The final 29 items were classified into 2 domains: functioning and neurologic impairments. This study enabled refinement of the CCSA-Clinician and provided evidence for its content validity. This preliminary validation is essential before field testing and further validation, in order to advance the instrument toward clinical trial readiness. [ABSTRACT FROM AUTHOR]

Background: Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps. Method: MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis. Results: A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3–21%) and anxiety disorders (7–34%) were the most prevalent conditions. Conclusion: This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management. [ABSTRACT FROM AUTHOR]

Domains of quality of life in children with autism spectrum disorder have not previously been explored and there has been no quality of life measure developed for this population. Our study investigated parent observations to identify the domains important to children with autism spectrum disorder who also had an intellectual disability. In all, 21 parents (19 mothers, 2 fathers) of children with autism spectrum disorder (aged 6–17 years) participated in a qualitative study to discuss their child's quality of life. Thematic analysis using a grounded theory framework was conducted and 10 domains emerged in relation to health and well-being, capacity to perform and develop skills in daily life, and connections with the community and environment. Unique aspects of quality of life included varying levels of social desire, consistency of routines, and time spent in nature and the outdoors, which are not comprehensively captured in existing measures. Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder and support the development of a new measure for this population. [ABSTRACT FROM AUTHOR]

This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.4-20.6) years) wore an activPAL accelerometer during video-taped activities and agreement was determined between sedentary time determined by the activPAL and observation. For 11 individuals (median [IQR] age 14.5 (11.5-25.6) years), linear regression was used to determine the relationship between sedentary time recorded on the modified Bouchard activity record diary card and measured using the activPAL. In comparison to observation, the activPAL accurately measured duration of sedentary time with a mean difference (limit of agreement) of -1.0 (6.3) minutes. The duration of Bouchard activity record downtime accounted for 73% of the variance of sedentary time measured by the activPAL (coefficient 0.762, 95% CI 0.413 to 1.111). These data provide clinicians and caregivers with capacity to investigate strategies that would aim to increase activity in the nonexercise component of the activity continuum. [ABSTRACT FROM AUTHOR]

Objective: To use a model of health learning to examine the role of health-learning capacity and the effect of a school-based oral health education intervention (Winning Smiles) on the health outcome, child oral health–related quality of life (COHRQoL). Setting: Primary schools, high social deprivation, Ireland/Northern Ireland. Design: Cluster randomised controlled trial. Method: A total of 383, 7- to 8-year-old children were invited to participate and randomly allocated into intervention and control conditions. Baseline and 12-month follow-up assessments of COHRQoL, self-esteem, toothbrushing–fluoride toothpaste knowledge and unstimulated saliva samples were made. An 18-hour post-brushing, saliva fluoride concentration was used to assess toothbrushing with fluoride toothpaste (behaviour). The data were entered onto SPSSv22. Structural equation modelling was applied using AMOSv22 to test for the role of health-learning capacity (baseline self-esteem and COHRQoL) and simultaneous effects of Winning Smiles upon knowledge, behaviour and COHRQoL (at follow-up). Results: A total of 238 children participated at baseline and follow-up. A partial latent hybrid model fitted the data reasonably well (χ2 = 65.6, df = 50, p = .07) as shown in addition by a Comparative Fit Index of .97 and a Root Mean Square Error of Approximation (RMSEA) value of .042 (90% confidence interval [CI]: .00, .06). The intervention had a significant effect on toothbrushing–fluoride toothpaste knowledge (p < .03) and an effect on COHRQoL at the 6% level (p < .06). Knowledge was strongly associated with saliva fluoride concentration (p < .002). Conclusion: The model of health-learning capacity assisted in explaining the effect of a school-based intervention upon knowledge, toothbrushing behaviour and tentatively on COHRQoL. [ABSTRACT FROM AUTHOR]

Background: Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child. This might be because they have more psychiatric disorders before the birth, or the increase could be related to the burden of caring for their child. Aims: We aimed to calculate the incidence of a psychiatric diagnosis in women with no psychiatric history after the birth of their eldest child with autism spectrum disorder compared to women with no child with autism spectrum disorder or intellectual disability and no psychiatric history. Methods: By linking datasets from Western Australian population-based registries, we calculated the incidence of a psychiatric disorder in mothers of children with autism spectrum disorder and compared to mothers of children with no autism spectrum disorder or intellectual disability. Negative binomial regression using STATA 13 was used for all analyses. Results: Apart from alcohol and substance abuse, mothers of children with autism spectrum disorder had higher incidences of all categories of psychiatric disorders than other mothers. Conclusion and implications: The increase of psychiatric disorders in mothers of children with autism spectrum disorder and no psychiatric history compared to similar mothers with no child with autism spectrum disorder or intellectual disability might be due to a pre-existing genetic disposition coupled with an environmental trigger provided by the challenges of raising their children with autism spectrum disorder. In addition, the increased burden borne by the mothers of children with autism spectrum disorder might result in a higher incidence of psychiatric disorders in mothers who are not genetically disposed. [ABSTRACT FROM AUTHOR]

Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross motor skills scores measured on the Gross Motor Scale for Rett syndrome. Skills were slightly better or maintained in approximately 40% of subjects and slightly decreased in approximately 60%. Teenagers and women who walked in 2004 were less likely to lose complex skills than those younger. Girls with a p.R294X mutation were more likely to lose complex motor skills, otherwise skill changes were spread across the mutation categories. In conclusion, small changes were observed over this period with greater stability of skills in teenagers and women with the ability to walk. [ABSTRACT FROM AUTHOR]

The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account. [ABSTRACT FROM PUBLISHER]

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping abilities lost skill over the 3- to 4-year period between video assessments. In these subjects, a decrease in hand function was seen less frequently in girls 13 to 19 years old than in those younger than 8 years, in subjects with some mobility compared with those who were wheelchair bound, and in those who had previously been able to finger feed. Relationships with the magnitude of change reflected these findings. Change in hand function did not vary with clinical severity. The results for all subjects were similar to results obtained when analysis was restricted to those with a pathogenic mutation. Variability in the longitudinal course of hand function in Rett syndrome was observed. [ABSTRACT FROM AUTHOR]

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls. Following apparently normal development, these girls typically regress and lose previously attained cognitive, social, and motor skills. Severe intellectual and physical disabilities remain throughout life. Mutations in the methyl-CpG-binding protein 2 gene, MECP2, are detected in approximately 80% of cases and are associated with phenotypic variability. Population-based data on Australian cases were used to study the association between early developmental and genetic factors and the onset of scoliosis. The median age at scoliosis onset was 9.80 years, and three quarters of subjects had developed scoliosis by 13 years of age. Children with compromised early development before 6 months, those who were less mobile at 10 months, and those who never walked were more likely to have an earlier onset of scoliosis. When seven common point mutations and large genomic and C-terminal deletions were compared, the R294X mutation appeared to provide some protective effect against the development of scoliosis. [ABSTRACT FROM AUTHOR]

The objective of this study was to determine the value of an e-mail listserv for parents of children with Rett syndrome, a rare neurologic disorder. This Web-based survey was completed by parents and carers. The setting was an e-mail listserv established by the International Rett Syndrome Association for parents of children with Rett syndrome and other interested persons. The participants included members of the e-mail listserv Rettnet. The main outcome measures were the perceived advantages and disadvantages of the listserv, overall rating of usefulness, and reasons for satisfaction or dissatisfaction. Most (81.5%) of the participants felt that Rettnet provided helpful advice concerning their child's management. They also indicated that Rettnet was useful in dealing with their child's education and as a source of carer support. They rated it highly (mean 8.1 on a scale of 1 to 10), and the most common reason given for recommending the service to other parents was the emotional support provided. E-mail listservs can play an important role in disseminating information and providing networking and support to parents of children with rare disorders. Their impact and influence warrant attention from health professionals, including neurologists. (J Child Neurol 2004; 19:902-907). [ABSTRACT FROM AUTHOR]

In 2001, the International Rett Syndrome Association funded the establishment of a World Wide Web-based database to collect and display the genetic data of children and adults with Rett syndrome from around the world. RettBASE () encompasses both published and unpublished data; includes pathogenic mutations, benign polymorphisms, and sequence variations of uncertain significance; and has a range of query capabilities, allowing for simple or complex interrogation of the database. To undertake genotype-phenotype correlations and to identify the likely subtle differences in phenotype, detailed phenotype data on large samples will be provided by the International Rett Syndrome Association International Phenotype database InterRett. InterRett is under development by the Australian Rett syndrome study group at the Telethon Institute for Child Health Research in Perth, Western Australia. It will collect data from clinicians and families and provide deidcntified, collated data on the Internet (). Data records will be linked with RettBASE through a common unique identifier. An international reference panel is advising on the development of the database. Data collection procedures from families and clinicians are currently being piloted. Full data collection from both groups began in the second half of 2003. Concurrently, the output database will be developed to provide deidentified individual records and collated data for clinicians and researchers and collated data for families and the general public. This Web-based database will be an invaluable resource for understanding the nature of the disorder and managing children and adults with Rett syndrome. (J Child Neurol 2003;18:709-713). [ABSTRACT FROM AUTHOR]

Residual hand use in functional tasks, extent of laterality, and right or left preference were studied in 145 2- to 24-year-old, postregression Australian subjects with Rett syndrome via parent questionnaire. Hand use was markedly restricted, more for complex than simple and for external (touching food and objects) than internal tasks (scratching, rubbing eyes), suggesting a deficit in cerebral control of external, goal-oriented hand use, which is perhaps genetically determined because there is significantly greater restriction of external tasks in subjects with demonstrated MECP2 mutations. Overall, 33.6% of patients were reported with a left-hand preference, 40.7% with a right-hand preference, and 25.7% with an equal hand preference. Extent of laterality was greater for external than internal and for complex than simple external tasks. Older subjects showed less functional hand use and possibly more overall laterality. However, their hand preference was similar to younger subjects. The anomalous pattern of hand preference in Rett syndrome may be linked to the primary apraxic deficit in this disorder rather than to late manifestation of laterality. (J Child Neural 2003; 18:481-487). [ABSTRACT FROM AUTHOR]

Examines the case reports of two boys who have the clinical manifestations of the Rett Syndrome, a neurologic abnormality described exclusively in girls. Karyotypically normal cells of the first patient; Absence of a mutation found on the first patient; Confirmation of mosaicism for Klinefelter's syndrome on the second patient; Existence of a diagnostic bias against the identification of the disease in boys.