Dissociation of Cross-Sectional Trajectories for Verbal and Visuo Spatial Working Memory Development in Rubinstein Taybi syndrome.

Background. Impairments in working memory (WM) might amplify behavioural difference in genetic syndromes associated with intellectual disability (ID) and account for variability in behavioural phenotypes. Murine models of the genetic disorder Rubinstein-Taybi syndrome (RTS) evidence memory impairments but there is limited research on memory in this syndrome. We examine the cross-sectional trajectory of domains of WM development in RTS. Methods. Individuals with RTS (N = 32) and typically developing (TD) children (N = 89) completed a battery of WM tasks. Participants with RTS also completed an IQ assessment and parent/carers completed the Vineland Adaptive Behavior Scales (VABS). A crosssectional trajectory analysis was conducted. Results. The RTS group showed significant WM deficits relative to mental age on measures of WM span in both verbal and visuo-spatial domains. However, whilst better performance on verbal WM span tasks was positively correlated with higher mental age in RTS, this association was not observed on the visuo-spatial span task despite being evident in the TD comparison group. Conclusions. Individuals with RTS are likely to have difficulties with tasks that rely on WM, above and beyond difficulties predicted by overall ability. In addition, there is a dissociation between the cross-sectional trajectories for verbal and visuo-spatial skills in RTS. Interventions and education strategies for individuals with RTS may need to be tailored to reduce or accommodate these difficulties

Behavioural and psychological characteristics in Pitt-Hopkins syndrome:a comparison with Angelman and Cornelia de Lange syndromes

Background: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). Methods: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. Results: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. Conclusions: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research

Scaling of Early Social Cognitive Skills in Typically Developing Infants and Children with Autism Spectrum Disorder

We delineate the sequence that typically developing infants pass tasks that assess different early social cognitive skills considered precursors to theory-of-mind abilities. We compared this normative sequence to performance on these tasks in a group of autistic (AUT) children. 86 infants were administered seven tasks assessing intention reading and shared intentionality (Study 1). Infants responses followed a consistent developmental sequence, forming a four-stage scale. These tasks were administered to 21 AUT children (Study 2), who passed tasks in the same sequence. However, performance on tasks that required following others’ eye gaze and cooperating with others was delayed. Findings indicate that earlier-developing skills provide a foundation for later-developing skills, and difficulties in acquiring some early social cognitive skills in AUT children

The importance of understanding the behavioural phenotypes of genetic syndromes associated with intellectual disability

Behavioural phenotype research is of benefit to a large number of children with genetic syndromes and associated developmental delay. This article presents an overview of this research area and demonstrates how understanding pathways between gene disorders and behaviour can inform our understanding of the difficulties individuals with genetic syndromes and developmental delay experience, including self-injurious behaviour, social exploitation, social anxiety, social skills deficits, sensory differences, temper outbursts and repetitive behaviours. In addition, physical health difficulties and their interaction with behaviour are considered. The article demonstrates the complexity involved in assessing a child with a rare genetic syndrome

Detection of diffuse HI emission in the circumgalactic medium of NGC891 and NGC4565 -- II

We probe the neutral circumgalactic medium (CGM) along the major axes of NGC891 and NGC4565 in 21-cm emission out to $\gtrsim 100$kpc using the Green Bank Telescope (GBT), extending our previous minor axes observations. We achieve an unprecedented $5\sigma$ sensitivity of $6.1\times 10^{16}$ cm$^{-2}$ per 20 km s$^{-1}$ velocity channel. We detect HI with diverse spectral shapes, velocity widths, and column densities. We compare our detections to the interferometric maps from the Westerbork Synthesis Radio Telescope (WSRT) obtained as part of the HALOGAS survey. At small impact parameters, $> 31-43\%$ of the emission detected by the GBT cannot be explained by emission seen in the WSRT maps, and it increases to $> 64-73\%$ at large impact parameters. This implies the presence of diffuse circumgalactic HI. The mass ratio between HI in the CGM and HI in the disk is an order of magnitude larger than previous estimates based on shallow GBT mapping. The diffuse HI along the major axes pointings is corotating with the HI disk. The velocity along the minor axes pointings is consistent with an inflow and/or fountain in NGC891 and an inflow/outflow in NGC4565. Including the circumgalactic HI, the depletion time and the accretion rate of NGC4565 are sufficient to sustain its star formation. In NGC891, most of the required accreting material is still missing.Comment: 18 pages, 12 figures, accepted for publication in MNRA

The behavioural phenotype of SATB2-associated syndrome: A within-group and cross-syndrome analysis

Background: SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay and craniofacial anomalies. Although the clinical presentation of SAS is well-delineated, behaviours associated with SAS are less well-defined. Given the varied social profile reported in SAS of a ‘jovial’ predisposition and autistic behaviours, there may be phenotypic overlap with both Angelman syndrome (AS) and non-syndromal autism. This study aimed to describe behaviours in SAS in relation to chronological age and level of ability, and contrast aspects of the behavioural phenotype with AS and non-syndromal autism. Methods: Informant-report questionnaire measures of behaviour, emotion and autism characteristics were completed for 81 individuals with SAS (aged 1-36 years; 43 male). Within-group associations were analysed, and categorical data were compared between pre-school (1-5 years), school-age (6-15 years) and adolescent and adult SAS sub-groups (16 years and over). Cross-syndrome subscale and item-level analyses were conducted for 63 individuals with SAS (aged 1-27 years; 31 male), who were matched according to age and level of ability to 63 individuals with AS (aged 2-25 years; 32 male) and 63 individuals with non-syndromal autism (aged 3-26 years; 53 male). Results: In SAS higher rates of overactivity were moderately associated with lower self-help ability, and higher general anxiety scores were reported for males compared to females. Cross-syndrome subscale analyses uncovered several significant differences (p < .01); with comparatively low rates of: stereotyped behaviour, overactivity, insistence on sameness and positive affect, and comparatively greater interest and pleasure and compulsive behaviour in individuals with SAS. Item-level analyses revealed a distinct profile of repetitive and autistic behaviours