Association between reduced stillbirth rates in England and regional uptake of accreditation training in customised fetal growth assessment.

OBJECTIVE: To assess the effect that accreditation training in fetal growth surveillance and evidence-based protocols had on stillbirth rates in England and Wales. DESIGN: Analysis of mortality data from Office of National Statistics. SETTING: England and Wales, including three National Health Service (NHS) regions (West Midlands, North East and Yorkshire and the Humber) which between 2008 and 2011 implemented training programmes in customised fetal growth assessment. POPULATION: Live births and stillbirths in England and Wales between 2007 and 2012. MAIN OUTCOME MEASURE: Stillbirth. RESULTS: There was a significant downward trend (p=0.03) in stillbirth rates between 2007 and 2012 in England to 4.81/1000, the lowest rate recorded since adoption of the current stillbirth definition in 1992. This drop was due to downward trends in each of the three English regions with high uptake of accreditation training, and led in turn to the lowest stillbirth rates on record in each of these regions. In contrast, there was no significant change in stillbirth rates in the remaining English regions and Wales, where uptake of training had been low. The three regions responsible for the record drop in national stillbirth rates made up less than a quarter (24.7%) of all births in England. The fall in stillbirth rate was most pronounced in the West Midlands, which had the most intensive training programme, from the preceding average baseline of 5.73/1000 in 2000-2007 to 4.47/1000 in 2012, a 22% drop which is equivalent to 92 fewer deaths a year. Extrapolated to the whole of the UK, this would amount to over 1000 fewer stillbirths each year. CONCLUSIONS: A training and accreditation programme in customised fetal growth assessment with evidence-based protocols was associated with a reduction in stillbirths in high-uptake areas and resulted in a national drop in stillbirth rates to their lowest level in 20 years.

Temperament in the first 2 years of life in infants at high-risk for autism spectrum disorders.

The current study investigated early temperament in 54 infants at familial high-risk of ASD and 50 controls. Parental report of temperament was assessed around 7, 14 and 24 months of age and diagnostic assessment was conducted at 3 years. The high-risk group showed reduced Surgency at 7 and 14 months and reduced Effortful Control at 14 and 24 months, compared to controls. High-risk infants later diagnosed with ASD were distinguished from controls by a temperament profile marked by increased Perceptual Sensitivity from the first year of life, and increased Negative Affect and reduced Cuddliness in the second year of life. Temperament may be an important construct for understanding the early infant development of ASD.

Dyadic and triadic behaviours in infancy as precursors to later social responsiveness in young children with autistic disorder.

The relationship between dyadic (eye contact and affect) and triadic (joint attention) behaviours in infancy, and social responsiveness at pre-school age, was investigated in 36 children with Autistic Disorder. Measures of eye contact and affect, and joint attention, including requesting behaviours, were obtained retrospectively via parental interviews and home videos from 0- to- 24-months of age. Concurrent measures (3-5 years) included social responsiveness to another's distress and need for help. Early dyadic behaviours observed in home videos, but not as reported by parents, were associated with later social responsiveness. Many triadic behaviours (from both parent-reports and home video) were also associated with social responsiveness at follow-up. The results are consistent with the view that early dyadic and triadic behaviours, particularly sharing attention, are important for the development of later social responsiveness.

The early development of joint attention in infants with autistic disorder using home video observations and parental interview.

The aim in the current study was to investigate the early development of joint attention, eye contact and affect during the first 2 years of life, by using retrospective parental interviews and analyses of home videos of infants who were later diagnosed with Autistic Disorder (AD). The 36 children with AD and the 27 matched control children were all aged between 3 and 5 years at recruitment. Reported anomalies in gaze and affect emerged in the children with AD as early as the first 6 months of life, generally becoming more severe just prior to the second birthday. Video data confirmed these anomalies from as early as the first year. Joint attention impairments were found throughout the second year of life. The results suggest that early dyadic behaviours-eye contact and affect-may play a role in the joint attention impairment in AD.

Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view.

Assessing the early characteristics of autistic disorder using video analysis.

The behaviours of infants were observed using home videos, in an attempt to identify social difficulties characteristic of infants with autistic disorder. Three groups of infants were analysed: 15 infants who had later been diagnosed with autism, 15 infants who had a developmental or language delay, and 15 typically developing infants. Social behaviours were coded using both quantitative and qualitative measures. The principal discriminating items between the groups were found to be 'peer interest', 'gaze aversion', 'anticipatory postures', and 'proto-declarative showing'. The results suggest that these children later diagnosed with autism are clinically distinct from their peers before the age of two years, and that there are clearly observable behaviours which are important predictors of autistic disorder in pre-verbal children.

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X.

The distributions of scores for autistic behaviours obtained from the Autism Diagnostic Observation Scale-Generic (ADOS-G) were investigated in 147 males and females affected with the full mutation in the fragile X mental retardation 1 (FMR1) gene, in 59 individuals with the premutation, and in 42 non-fragile X relatives, aged 4-70 years. The scores representing communication and social interaction were continuously distributed across the two fragile X groups, and they were significantly elevated compared with the non-fragile X controls. Strong relationships were found between both these scores and FMRP deficits, but they became insignificant for social interaction, and the sum of social interaction and communication scores, when FSIQ was included as another predictor of autism scores. Other significant predictors of these scores in both sexes were those executive skills which related to verbal fluency, and to the regulation and control of motor behaviour. Overall, our data have shown that cognitive impairment, especially of verbal skills, best explains the comorbidity of autism and fragile X. This implies some more fundamental perturbations of specific neural connections which are essential for both specific behaviours and cognition. We also emphasize that FXS offers a unique molecular model for autism since FMRP regulates the translation of many other genes involved in synaptic formation and plasticity which should be natural targets for further exploration.