Publications by authors named "Skuse D"

Purpose: To explore changes in the electroretinogram (ERG) following methylphenidate use in attention-deficit/hyperactivity disorder (ADHD).

Methods: Light adapted ERGs were recorded in five individuals (3 male and 2 female, age range 13.6-21.

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Article Synopsis
  • A collaboration of clinicians, researchers, and family groups worked from March 2021 to March 2024 to improve tools for assessing brain involvement in Duchenne and Becker Muscular Dystrophies.
  • They reached a consensus on which screening questionnaires and clinical assessments are most effective for understanding neurocognitive and neurobehavioral issues in these conditions.
  • The gathered data will also help study connections between brain comorbidities, dystrophin isoforms, brain imaging, and animal models lacking these isoforms.
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Background: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype.

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A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high neurodevelopmental and psychiatric risk (ND-CNVs). Irritability is frequently observed in childhood neurodevelopmental conditions, yet its aetiology is largely unknown. Genetic variation may play a role, but there is a sparsity of studies investigating the presentation of irritability in young people with ND-CNVs.

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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.

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Microfibrillated cellulose (MFC) is a bio-material produced by disintegrating cellulose fibres into fibrillar components. MFC could offer a sustainable solution to packaging needs since it can form an excellent barrier to oxygen. However, a comprehensive understanding of how MFC characteristics impact barrier properties of MFC films or coatings is required.

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Introduction: The precise epidemiological burden of autism is unknown because of the limited capacity to identify and diagnose the disorder in resource-constrained settings, related in part to a lack of appropriate standardised assessment tools and health care experts. We assessed the reliability, validity, and diagnostic accuracy of the Developmental Diagnostic Dimensional Interview (3Di) in a rural setting on the Kenyan coast.

Methods: Using a large community survey of neurodevelopmental disorders (NDDs), we administered the 3Di to 2,110 children aged between 6 years and 9 years who screened positive or negative for any NDD and selected 242 who had specific symptoms suggestive of autism based on parental report and the screening tools for review by a child and adolescent psychiatrist.

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Purpose: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are conditions that similarly alter cognitive functioning ability and challenge the social interaction, attention, and communication skills of affected individuals. Yet these are distinct neurological conditions that can exhibit diverse characteristics which require different management strategies. It is desirable to develop tools to assist with early distinction so that appropriate early interventions and support may be tailored to an individual's specific requirements.

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Background: Parents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health difficulties, which vary between parents and within parents over time. The underlying cause of a child's condition can influence parents' mental health, via uncertain pathways and within unknown time-windows.

Results: We analysed baseline data from the IMAGINE-ID cohort, comprising 2655 parents of children and young people with ID of known genetic origin.

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Background: A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high neurodevelopmental and psychiatric risk (ND-CNVs). Irritability is frequently observed in childhood neurodevelopmental conditions, yet its aetiology is largely unknown. Genetic variation may play a role, but there is a sparsity of studies investigating presentation of irritability in young people with ND-CNVs.

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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.

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The potential benefits of providing digital mental healthcare to isolated rural populations are emphasised in two articles from Pakistan. Novel programmes of support have been instituted by both private and publicly funded services.

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Background: Many children with an intellectual or developmental disability (IDD) have associated autism spectrum disorders (ASD), as well as an increased risk of mental health difficulties. In a cohort with IDD of genetic aetiology, we tested the hypothesis that excess risk attached to those with ASD + IDD, in terms of both children's mental health and parental psychological distress.

Methods: Participants with a copy number variant or single nucleotide variant (5-19 years) were recruited via UK National Health Service.

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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.

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This month's issue of focuses on psychiatry in Sri Lanka, with articles on suggested improvements in education and training, the country's outdated legislation regarding involuntary psychiatric treatment, and the misuse of prescription medications.

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Article Synopsis
  • The article discusses the new ICD-11 criteria for Autism Spectrum Disorder (ASD) by the World Health Organization, focusing on its medical model approach.
  • It integrates various disciplines and personal experiences to provide a comprehensive understanding of autism viewed through a biopsychosocial and neurodiversity lens.
  • The authors outline the defining behaviors of ASD, consider its neuropsychological aspects, compare it with DSM-5 criteria, and offer recommendations for clinical practices that prioritize tailored interventions based on individual needs.
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Objective: To identify clinical features that could distinguish children presenting with autistic-like features and a history of severe early maltreatment from children with idiopathic autism spectrum disorders (ASDs).

Design: Matched-comparison study.

Setting: Great Ormond Street Hospital, UK.

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Objectives: Turner syndrome (TS) is a rare sex chromosome aneuploidy, with an incidence of four in 10,000 new-born girls. TS is often associated with impaired social communication skills, but the extent to which these are attributable to Autism Spectrum Disorders (ASD) is uncertain. We made standardized assessments of the mental health and associated neurodevelopmental disorders in children and adolescents with TS and report on the prevalence of concurrent conditions.

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Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts language, communication and social interactions. The current diagnostic process for ASD is based upon a detailed multidisciplinary assessment. Currently no clinical biomarker exists to help in the diagnosis and monitoring of this condition that has a prevalence of approximately 1%.

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Background: Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to determine the effect of genomics, inheritance, and socioeconomic deprivation on neuropsychiatric risk in children with intellectual disability of genetic origin as compared with the general population.

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Objectives: To develop a Pediatric glucocorticoid toxicity index (pGTI), a standardized, weighted clinical outcome assessment that measures change in glucocorticoid (GC) toxicity over time.

Methods: Fourteen physician experts from 7 subspecialties participated. The physician experts represented multiple subspecialties in which GCs play a major role in the treatment of inflammatory disease: nephrology, rheumatology, oncology, endocrinology, genetics, psychiatry, and maternal-fetal medicine.

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  • This systematic review explored the links between epilepsy and autism, aiming to identify significant risk factors and assess the quality of the studies involved.
  • A total of 53 studies were analyzed, revealing that out of 257,892 participants, about 7% (18,254 individuals) had epilepsy alongside autism.
  • Intellectual disability or cognitive impairment was identified as the most notable risk factor, while other associations were found to be unreliable and needing more research, with only 9 out of the 53 studies deemed to be of good quality.
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Background: To evaluate the electroretinogram waveform in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) using a discrete wavelet transform (DWT) approach.

Methods: A total of 55 ASD, 15 ADHD and 156 control individuals took part in this study. Full field light-adapted electroretinograms (ERGs) were recorded using a Troland protocol, accounting for pupil size, with five flash strengths ranging from -0.

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