The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities.

BACKGROUND: Children and young people (CYP) with intellectual and developmental disabilities (IDDs) have significant additional educational needs compared with the general population. In England, the government has established a system of education, health and care plans (EHCPs) to support children with special educational needs and disabilities, but disparities exist between the degree of need and the availability of support. We conducted a prospective UK national cohort study (IMAGINE) of children with rare pathogenic genomic variants, all of which are associated with IDD, to investigate associated neuropsychiatric risk. Subsequently, we obtained information from the UK's National Pupil Database on their educational progress through the state school system. We aimed to identify whether they had received EHCP provision and whether that support was associated with their family's socioeconomic status, region of domicile, ethnicity, sex, primary special educational needs (SEN) type, academic performance and mental health well-being. METHODS: We recruited 2738 CYP from England into the IMAGINE study between 2014 and 2019. The educational histories of the participants (6-28 years old, mean ± standard deviation = 14 ± 4 years, 56% male) were obtained from the Department for Education's National Pupil Database in 2021. Educational data included attainment scores from the Early Year Foundation Stage (<5 years) to key stage 4 (15-16 years). Each family was assigned an index of multiple deprivation (IMD) score based on their home address postcode. Parents or carers rated their child's emotional and behavioural adjustment on the Strengths and Difficulties Questionnaire (SDQ). The association between receiving an EHCP and the child's IMD score, eligibility for free school meals, English region of domicile, ethnicity, sex, primary SEN type, academic attainment and SDQ score was investigated. RESULTS: In this cohort, 78% of participants had received an EHCP. CYP living in the most deprived IMD deciles were substantially less likely to receive EHCP support than those in the least deprived decile, irrespective of their degree of intellectual developmental disability, academic performance or associated mental health problems. There were no sex differences. Children of Asian heritage were more likely to have been granted an EHCP than White children from equivalent IMD deciles. There were striking regional disparities. Participants living in London were significantly more likely to have been awarded an EHCP than participants living anywhere else in England, regardless of their IMD decile; those in the least deprived decile had almost 100% EHCP provision. CONCLUSIONS: This study found evidence for nationwide regional inconsistencies in the awarding of EHCP to CYP with significant intellectual impairments of known genetic aetiology. Disparities in funds available to education authorities could be a contributory factor. EHCP support was potentially influenced by how strongly a parent advocates for their child.

The negative impact of global health worker migration, and how it can be addressed.

International migration of healthcare workers is well established and has become a means of maintaining service quality in many high income countries. In recent years, there has been a dramatic increase in recruitment of health personnel who have been trained abroad, including from the poorest countries in the world. In this article, using General Medical Council (GMC) data, we chart the growth in numbers of international staff working in the United Kingdom, where since 2018, over half of all new GMC registrations have been of doctors trained abroad. There is evidence that this migration of health staff results in poorer health service provision in low and middle income countries, as well as substantial economic impacts in these countries that have invested in training their health workforce. Recruiting governments have argued that remittances compensate for the loss of personnel, and that training opportunities can enable skills transfer to countries with weaker health systems. However, we found that the costs to the source countries dwarfed remittances, and that only a tiny fraction of people who move to take up posts in wealthier countries ever return to their countries of origin to work. We conclude that in addition to the investment in health systems (and workforce development) in low and middle income countries as part of Official Development Assistance for Health, there is an urgent need to increase training of nurses and doctors so that damaging migration is no longer relied upon to fill gaps in healthcare personnel.

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties.

Difficulties in social communication are part of the phenotypic overlap between autism spectrum disorders (ASD) and schizophrenia. Both conditions follow, however, distinct developmental patterns. Symptoms of ASD typically occur during early childhood, whereas most symptoms characteristic of schizophrenia do not appear before early adulthood. We investigated whether overlap in common genetic influences between these clinical conditions and impairments in social communication depends on the developmental stage of the assessed trait. Social communication difficulties were measured in typically-developing youth (Avon Longitudinal Study of Parents and Children, N⩽5553, longitudinal assessments at 8, 11, 14 and 17 years) using the Social Communication Disorder Checklist. Data on clinical ASD (PGC-ASD: 5305 cases, 5305 pseudo-controls; iPSYCH-ASD: 7783 cases, 11 359 controls) and schizophrenia (PGC-SCZ2: 34 241 cases, 45 604 controls, 1235 trios) were either obtained through the Psychiatric Genomics Consortium (PGC) or the Danish iPSYCH project. Overlap in genetic influences between ASD and social communication difficulties during development decreased with age, both in the PGC-ASD and the iPSYCH-ASD sample. Genetic overlap between schizophrenia and social communication difficulties, by contrast, persisted across age, as observed within two independent PGC-SCZ2 subsamples, and showed an increase in magnitude for traits assessed during later adolescence. ASD- and schizophrenia-related polygenic effects were unrelated to each other and changes in trait-disorder links reflect the heterogeneity of genetic factors influencing social communication difficulties during childhood versus later adolescence. Thus, both clinical ASD and schizophrenia share some genetic influences with impairments in social communication, but reveal distinct developmental profiles in their genetic links, consistent with the onset of clinical symptoms.

Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities.

BACKGROUND: The phenotype of children with XXYY has predominantly been defined by comparison to other sex chromosome aneuploidies trisomies affecting male children; however, the intellectual ability of children with XXYY is lower than children with other sex chromosome aneuploidies trisomies. It is not known to what extent the phenotype identified to date is specific to XXYY, rather than a reflection of lower IQ. This study evaluates the mental health and behaviour of children with XXYY, in comparison to children with intellectual disabilities of heterogeneous genetic origin. METHODS: Fifteen children with XXYY and 30 controls matched for age (4-14 years), sex and intellectual ability were ascertained from the IMAGINE ID study. IMAGINE ID participants have intellectual disabilities due to genetic anomalies confirmed by National Health Service Regional Genetic Centre laboratories. The mental health and behaviour of participants was examined with the Development and Well-being Assessment and the Strengths and Difficulties Questionnaire. RESULTS: Children with XXYY experienced significantly more frequent and intense temper outbursts than the control group. CONCLUSION: Our results suggest that temper outbursts may be specifically associated with the XXYY phenotype. These problems have a significant impact on the daily lives of boys with XXYY and their families. It is crucial to ensure that families are well supported to manage these difficulties.

PFAS contaminated asphalt and concrete - Knowledge gaps for future research and management.

Per- and polyfluoroalkyl substances (PFAS) are now widespread in the environment. Globally, airfields and paved firefighting training surfaces are particularly affected due to extensive use of aqueous film forming foams (AFFF). This PFAS contamination in exposed concrete and asphalt has not been widely addressed. This review focusses on PFAS interaction with concrete and asphalt, traversing extraction, analytical identification/quantification, PFAS fractionation via differential adsorption on organic and inorganic substrates, and reuse options for contaminated concrete and asphalt. A total of 24 knowledge gaps and management challenges for concrete and asphalt characterisation and management have been identified.

Social communication deficits in disruptive primary-school children.

BACKGROUND: Parent and teacher data, from questionnaire surveys, suggest that school-identified disruptive children often have pragmatic language deficits of an autistic type. AIMS: This replication study aimed to confirm earlier findings, using individual clinical assessment to investigate traits of autism-spectrum disorder in disruptive children. METHOD: Persistently disruptive children (n = 26) and a comparison group (n = 22) were recruited from primary schools in a deprived inner-city area. Measures included standardised autism diagnostic interviews (with parents) and tests of IQ, social cognition, theory of mind and attention (with children). RESULTS: The disruptive children possessed poorer pragmatic language skills (P<0.0001) and mentalising abilities (P<0.05) than comparisons. Nine disruptive children (35%) met ICD-10 criteria for atypical autism or Asperger syndrome. CONCLUSIONS: Many persistently disruptive children have undetected disorders of social communication, which are of potential aetiological significance.

A Systematic Review of Group Social Skills Interventions, and Meta-analysis of Outcomes, for Children with High Functioning ASD.

Group social skills interventions (GSSIs) are a commonly offered treatment for children with high functioning ASD. We critically evaluated GSSI randomised controlled trials for those aged 6-25 years. Our meta-analysis of outcomes emphasised internal validity, thus was restricted to trials that used the parent-report social responsiveness scale (SRS) or the social skills rating system (SSRS). Large positive effect sizes were found for the SRS total score, plus the social communication and restricted interests and repetitive behaviours subscales. The SSRS social skills subscale improved with moderate effect size. Moderator analysis of the SRS showed that GSSIs that include parent-groups, and are of greater duration or intensity, obtained larger effect sizes. We recommend future trials distinguish gains in children's social knowledge from social performance.

The development of mental state attributions in women with X-monosomy, and the role of monoamine oxidase B in the sociocognitive phenotype.

We hypothesized that women with Turner syndrome (45,X) with a single X-chromosome inherited from their mother may show mentalizing deficits compared to women of normal karyotype with two X-chromosomes (46,X). Simple geometrical animation events (two triangles moving with apparent intention in relation to each other) which usually elicit mental-state descriptions in normally developing people, did not do so to the same extent in women with Turner syndrome. We then investigated the potential role in this deficit played by monoamine oxidase B enzymatic activity. MAO-B activity reflects central serotonergic activity, and by implication the functional integrity of neural circuits implicated in mentalizing. Platelet MAO-B was substantially reduced in Turner syndrome. However, contrary to prediction, in this (relatively small) sample there was no association between MAO-B enzymatic activity and mentalizing skills in participants with and without Turner syndrome.

Functional dissociation of amygdala-modulated arousal and cognitive appraisal, in Turner syndrome.

The amygdala is preferentially activated by facial expressions of fear. Right and left amygdala are hypothesized to play distinct, but complementary, roles that influence somatic and cognitive responses to facial expressions. Right amygdala activation is linked to autonomic arousal, and thus indirectly influences left hemisphere cognitive processing centres. Left amygdala activation is more closely associated with cognitive processing and differentiation of facial emotions. A double-dissociation between the functions of left and right amygdala is implied by lesion studies but supportive evidence is inconsistent, partly because patients with structural anteromedial temporal anomalies have experienced variable surgical procedures. A functional dissociation can be demonstrated between arousal and the cognitive appraisal of fearful faces in the condition of X-monosomy or Turner syndrome. Previous research found Turner syndrome women of normal verbal intelligence are seriously impaired in their ability cognitively to differentiate fearful from other facial expressions but they acquire fear conditioning normally, with enhanced autonomic responses. These findings supported the dissociation hypothesis, which was formally tested in a study of 12 X-monosomic and 12 control females who participated in functional magnetic resonance imaging during which simultaneous skin conductance recordings were acquired. Faces depicting fear or neutral emotions were presented to both case and control subjects in random order. Arousal to (fearful-neutral) faces was associated with transiently increased skin conductance responses and bilateral amygdala activation in both groups, but X-monosomic females had proportionately greater--and more persistent--right amygdala activation than controls. In both groups, cognitive accuracy correlated positively with differential activity of left fusiform gyrus. There was a significant correlation between the left fusiform and left medial amygdala activation only in normal females, and only in them did differential SCRs (to fearful-neutral faces) correlate positively with left fusiform responses. Arousal and cognitive appraisal functions of the amygdala can thus be functionally dissociated. X-monosomy selectively impairs explicit recognition of fearful faces in the presence of normal or enhanced autonomic reactivity, and is associated with a functional dissociation of activity in left amygdala and left fusiform gyrus. These findings imply X-linked genes are essential for binding somatic responses to the cognitive appraisal of emotional stimuli.

Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment.

X-monosomy is a form of Turner syndrome (TS) in which an entire X chromosome is missing. It is usually assumed that neuropsychological deficits in females with TS result from insufficient dosage of gene products from alleles on the sex chromosomes. If so, then parental origin of the single X chromosome should be immaterial. However, if there are imprinted genes on the X chromosome affecting brain development, neuropsychological development will depend on the parental origin of the single X chromosome. We contrasted verbal and visuospatial memory in females with a single paternal X chromosome (45,X(p)) and those with a single maternal X (45,X(m)). Neither group showed any impairment on immediate story recall; if anything, performance was above control levels. Groups did not differ on a measure of delayed recall. However, when delayed recall was considered after adjusting for level of immediate recall, 45,X(m) females showed enhanced verbal forgetting relative to controls over a delay. On the Rey figure, both groups were poor at copying the figure, but, after adjusting scores for initial copy score and strategy, only the 45,X(p) females showed disproportionate forgetting relative to controls. We propose there may be one or more imprinted genes on the X chromosome that affect the development of lateralised brain regions important for memory function.

Failure to thrive and the risk of child abuse: a prospective population survey.

OBJECTIVE: To identify the relative importance of failure to thrive during infancy as a risk factor for later abuse or neglect. DESIGN: Whole population birth cohort (1 January to 31 December 1986) studied prospectively over a four year period. SETTING: An inner city health district in London, England. SUBJECTS: 2609 births, of whom 47 were identified as having non-organic failure to thrive by first birthday. MAIN OUTCOME MEASURES: Registration on Child Protection Register, or subject to investigation of suspected abuse or neglect without registration. RESULTS: 2.5% (64) of birth cohort had been placed on the Child Protection Register during the period 1986-1990, and a further 1.2% (32) had been a cause for concern. The relative risk attributable to non-organic failure to thrive was 4.3 (95% CI 1.65 to 11.94) and exceeded other measured risk factors, including birth weight < 2500 g, 1.96 (95% CI 1.01 to 3.82); gestation < 35 weeks, 3.26 (95% CI 1.32 to 3.75); ordinal position > or = 4, 1.53 (95% CI 0.72 to 3.23). A multiple logistic regression confirmed the independent contribution of non-organic failure to thrive to subsequent poor parenting warranting professional intervention. CONCLUSIONS: Early postnatal non-organic failure to thrive is a risk factor for later serious parenting deficiencies, but previous research has overstated its importance. Within the community studied the nature of subsequent risk was (non-nutritional) neglect, rather than non-accidental injury. More than eight out of 10 cases do not give further cause for concern.

Hydroxypropyl cellulose/poly(ethylene glycol)-co-poly(propylene glycol) aqueous two-phase systems: system characterization and partition of cells and proteins.

Novel aqueous polymeric two-phase systems are described. These systems are formed by mixing hydroxypropyl cellulose (molecular mass 100,000, trade name Klucel L) with poly(ethylene glycol)-co-poly(propylene glycol) copolymer [molecular mass 6,500, poly(propylene glycol) content 50% w/w, trade name Pluronic P105], in a saline buffer. The phase diagram was measured and the interfacial tensions, phase separation times, and lower phase viscosities of three phase systems having constant Pluronic P105 concentration but varying in Klucel L concentration were determined. The partition behavior of a representative cell, bacterium, and protein and the affinity ligand-mediated alteration in the partition behavior of a protein from a yeast extract protein mixture were also characterized. The results suggest that Klucel L/Pluronic P105 phase systems may be cost-effective substitutes for, or complements to, existing aqueous polymeric phase systems. The physical characterization and representative partition data reported here should facilitate application of these new systems.

Recognition of children with psychosocial short stature: a spectrum of presentation.

We describe 65 children (32F, 33M) with psychosocial short stature from 51 families. Average age was 6.6 years (range 0.9-16.5) and all but five were prepubertal. 67% of the patients lived in families with three or more children, but in 73% of cases the patient was the first or the second born child. 45% of the parents were divorced and in 31% of the families the father was unemployed. In 56 children, the birth weight was known and in only 29% was it above 3000 g; 21% were premature, 29% had features of low birth-weight syndrome (including four with Russell-Silver syndrome). Average birth weight was 2786 g (range 1650-4676). In all patients, the predominant reason for referral was growth failure. In 28% an environmental aetiology was suspected and in a further 29%, social or emotional problems were known to the referring physician but not suspected as the aetiology of the growth failure, despite social services involvement in 60% at the referral to our unit. At initial presentation in our clinic, we found additional features leading to the suspicion of psychosocial short stature; 54% abnormal eating pattern, 42% behaviour problems, 26% encopresis, 18% nocturnal enuresis and 12% inappropriate urination. During the observation period of a mean of 3.7 years, 27 (41%) of our patients were found to have been sexually or physically abused. In these 27 children hyperphagia, bizarre eating habits, behaviour problems, soiling and nocturnal enuresis were more common.

Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management.

Issues of self-appraisal, friendships and academic attainments are uniquely salient for all adolescents. For girls with Turner syndrome, social problems and learning difficulties often become more serious at this time, yet may be unacknowledged by those responsible for paediatric care because their focus is on growth and sexual maturation. Data on the social and educational adjustment of 110 45,X (monosomic) females aged between 6 and 25 years is presented. Detailed information on the patients' precise karyotype was used to demonstrate systematic differences in adjustment between those whose single X chromosome was maternally derived and those in whom it was paternal. Implications for educational support and parental guidance are discussed.

Psychosocial assessment of children with short stature: a preliminary report.

Previous studies that have examined the psychosocial adjustment of children with short stature have often been flawed, for two main reasons: first, a lack of sample homogeneity and, secondly, the measures of adjustment used have been limited in terms of their sensitivity. This paper examines psychological functioning in the following four broad areas: cognition, social behaviour, emotional adjustment and self-concept. A sample of children referred to growth clinics (mean height below -2 SDS) and a comparison group, recruited from the referred childrens' classes at school, were assessed. Children were prepubertal (age range, 6-11 years) and had no organic cause for their short stature. Parent, teacher and peer reports were used in the assessment, which included sociometric measures in the classroom. The children with short stature described themselves as equally well supported as the comparison children in terms of social support by parents, teachers, peers and friends. Peers reported the short children to be well accepted within their class. Compared with control children, there was a trend for short children to be described by their peers as socially better adjusted than average. Teacher and parental accounts revealed significant group differences in terms of reported behaviour, with poorer attention and more thought problems among the children with short stature. Further analysis suggested, however, that their slightly lower IQ than children of normal height (95.8 +/- 18.7 (mean +/- SD) compared with 105 +/- 15.4) accounted for a greater proportion of the variance in these findings than short stature per se. There is little evidence to indicate that short prepubertal children are psychosocially maladjusted.(ABSTRACT TRUNCATED AT 250 WORDS)

Consultation for physical illnesses by patients diagnosed and treated for psychiatric disorders by a general practitioner: 20 year follow up study.

Patterns of consultation for physical illness were analysed in a body of consultation data covering a continuous 20 year period from a single general practitioner in south London. Three groups of adult patients were identified: patients with a psychiatric disorder and a new prescription for a psychotropic drug; patients with a psychiatric disorder but no new prescription for a psychotropic drug; and a control group without psychiatric disorder. The percentages of patients having one or more consultation for physical illnesses were stable over the years studied, being roughly 90%, 85%, and 60% respectively. For groups identified in 1972 their patterns of consultation for physical illness were examined in 1957, 1962, and annually from 1967 to 1976. In every year studied except 1957 the group with a psychiatric disorder and a new prescription for a psychotropic drug exceeded both other groups in the percentage of patients having one or more consultations for physical illnesses. Both groups with psychiatric disorders had an excess of consultations over the control group; this excess halved in about four years for the group with a new prescription and in about one year for the group without a new prescription. Mental health care by general practitioners for patients with psychiatric disorders does not seem to have an offset effect on general health care of these patients.

Psychological disturbance and service provision in parentally bereaved children: prospective case-control study.

OBJECTIVES: To identify whether psychiatric disturbance in parentally bereaved children and surviving parents is related to service provision. DESIGN: Prospective case-control study. SETTING: Two adjacent outer London health authorities. PARTICIPANTS: 45 bereaved families with children aged 2 to 16 years. MAIN OUTCOME MEASURES: Psychological disturbance in parentally bereaved children and surviving parents, and statistical associations between sample characteristics and service provision. RESULTS: Parentally bereaved children and surviving parents showed higher than expected levels of psychiatric difficulties. Boys were more affected than girls, and bereaved mothers had more mental health difficulties than bereaved fathers. Levels of psychiatric disturbance in children were higher when parents showed probable psychiatric disorder. Service provision related to the age of the children and the manner of parental death. Children under 5 years of age were less likely to be offered services than older children even though their parents desired it. Children were significantly more likely to be offered services when the parent had committed suicide or when the death was expected. Children least likely to receive service support were those who were not in touch with services before parental death. CONCLUSIONS: Service provision was not significantly related to parental wishes or to level of psychiatric disturbance in parents or children. There is a role for general practitioners and primary care workers in identifying psychologically distressed surviving parents whose children may be psychiatrically disturbed, and referring them to appropriate services.

Risk factors for development of sexually abusive behaviour in sexually victimised adolescent boys: cross sectional study.

OBJECTIVE: To identify factors that may increase the risk of a sexually victimised adolescent boy developing sexually abusive behaviour. DESIGN: Sexually victimised boys who had sexually abused other children were compared with sexually victimised boys who had not done so. SETTING: Social services departments in south east England were invited to refer sexually abused and sexually abusing boys to a London postgraduate teaching hospital. SUBJECTS: 25 adolescent boys aged between 11 years and 15 years and 11 months. MAIN OUTCOME MEASURES: Adjusted odds ratios estimated from unconditional logistic regression. RESULTS: Unadjusted odds rations for witnessing (8.1) as well as experiencing (18.0) intrafamilial violence and discontinuity of care (7.2) discriminated boys who had sexually abused from others who were solely victims of sexual abuse. Only the adjusted odds ratios for witnessing intrafamilial violence (39.7) discriminated the two groups. CONCLUSIONS: The risk of adolescent boys who have been victims of sexual abuse engaging in sexually abusive behaviour towards other children is increased by life circumstances which may be unrelated directly to the original abusive experience, in particular exposure to a climate of intrafamilial violence. Our findings have implications for the management of boys found to have been sexually abused and raise important questions about the possibility of secondary prevention of subsequent abusive behaviour in those at greatest risk.