This study explores how capable young children are of thinking about a potential future that uses DNA screening to assess an individual’s likelihood of experiencing learning or behaviour ...difficulties. Puppets and a scenario-based approach were used to ask children aged 4–10 (
n = 165
) whether they thought DNA screening might be helpful or harmful. A content analysis derived six categories: (1) ‘Worried about being – and being seen as – different’; (2) ‘Beliefs about the origins of learning and behaviour’; (3) ‘Testing is harmful’; (4) ‘Testing could help’; (5) ‘How soon is too soon for testing?’; and (6) ‘What’s the point?’. Findings indicate young children, as key stakeholders, can make useful contributions to public debate in this important and controversial area.
IntroductionPeople with Learning Disabilities are often invisible or deemed not being able to have sexual lives, however they are more likely to be exploited or abused, so being able to offer support ...and allow them to access good quality sexual and reproductive care was seen as important.Several clinicians felt poorly equipped to deal with this client group. Able to provide a welcoming space, looking at the specific support needed to allow this to work.MethodThe work was started by a MDT working party alongside, our partner the Family Planning Association (FPA) who had already supported another clinic, we were able to make use of their learning.ResultsBespoke training was devised on three levels: introduction, specialist and Training the trainer which was of part of community involvement and networking opportunity.Building a library of recourses with visual aids to help illustrate common themes that might be presented in clinic.A booklet sent to new clients prior to attending, which outline what would be expected during consultations.DiscussionDeveloping a welcoming space in a quiet community setting.We tabled a day where we would have one of the upskilled: clinician, health adviser with extended time slots.Building a rapport and trust over a few sessions might need to happen before any examination.We now have a code to be able to track the numbers.Covid as has made the provision moribund, we need to relaunch.CPD for new staffAnnual training session for the Transition Team, working with young PWLD.
Neonatal abstinence syndrome (NAS) is a postnatal drug withdrawal syndrome that can occur after intrauterine opioid exposure. Adverse neurobehavioral outcomes have been documented in infants with ...NAS; however, educational outcomes have not been thoroughly examined. We analyzed Tennessee data to understand the need for special educational services among infants who are born with NAS.
By using Tennessee Medicaid and birth certificate data, infants who were born in Tennessee between 2008 and 2011 with a history of NAS were matched (1:3) to infants who were born during the same period without a history of NAS. Groups were matched on the basis of sex, race and/or ethnicity, age, birth region of residence, and Medicaid enrollment status. Data were linked to Tennessee Department of Education special education data during early childhood (3-8 years of age). Conditional multivariable logistic regression was used to assess associations between NAS and selected special education outcomes.
A total of 1815 children with a history of NAS and 5441 children without NAS were assessed. Children with NAS were significantly more likely to be referred for a disability evaluation (351 of 1815 19.3% vs 745 of 5441 13.7%;
< .0001), to meet criteria for a disability (284 of 1815 15.6% vs 634 of 5441 11.7%;
< .0001), and to require classroom therapies or services (278 of 1815 15.3% vs 620 of 5441 11.4%;
< .0001). These findings were sustained in a multivariable analysis, with multiple models controlling for maternal tobacco use, maternal education status, birth weight, gestational age, and/or NICU admission.
Results of this novel analysis linking health and education data revealed that children with a history of NAS were significantly more likely to have a subsequent educational disability.
OBJECTIVE:To define the natural history of X-linked myotubular myopathy (MTM).
METHODS:We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year ...longitudinal investigation using a phone survey (n = 33).
RESULTS:We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 hours of support) dependence. However, unlike previous reports and despite the high burden of disease, mortality was lower than anticipated (approximate rate 10%/y). Seventy-six percent of patients with MTM enrolled (mean age 10 years 11 months) were alive at the end of the study. Nearly all deaths in the study were associated with respiratory failure. In addition, the disease course was more stable than expected, with few adverse events reported during the prospective survey. Few non–muscle-related morbidities were identified, although an unexpectedly high incidence of learning disability (43%) was noted. Conversely, MTM was associated with substantial burdens on patient and caregiver daily living, reflected by missed days of school and lost workdays.
CONCLUSIONS:MTM is one of the most severe neuromuscular disorders, with affected individuals requiring extensive mechanical interventions for survival. However, among study participants, the disease course was more stable than predicted, with more individuals surviving infancy and early childhood. These data reflect the disease burden of MTM but offer hope in terms of future therapeutic intervention.This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
The Adverse Outcome Pathways (AOPs) are designed to provide mechanistic understanding of complex biological systems and pathways of toxicity that result in adverse outcomes (AOs) relevant to ...regulatory endpoints. AOP concept captures in a structured way the causal relationships resulting from initial chemical interaction with biological target(s) (molecular initiating event) to an AO manifested in individual organisms and/or populations through a sequential series of key events (KEs), which are cellular, anatomical and/or functional changes in biological processes. An AOP provides the mechanistic detail required to support chemical safety assessment, the development of alternative methods and the implementation of an integrated testing strategy.
An example of the AOP relevant to developmental neurotoxicity (DNT) is described here following the requirements of information defined by the OECD Users' Handbook Supplement to the Guidance Document for developing and assessing AOPs. In this AOP, the binding of an antagonist to glutamate receptor N-methyl-d-aspartate (NMDAR) receptor is defined as MIE. This MIE triggers a cascade of cellular KEs including reduction of intracellular calcium levels, reduction of brain derived neurotrophic factor release, neuronal cell death, decreased glutamate presynaptic release and aberrant dendritic morphology. At organ level, the above mentioned KEs lead to decreased synaptogenesis and decreased neuronal network formation and function causing learning and memory deficit at organism level, which is defined as the AO. There are in vitro, in vivo and epidemiological data that support the described KEs and their causative relationships rendering this AOP relevant to DNT evaluation in the context of regulatory purposes.
•Inhibition of NMDA receptors function could result in learning and memory impairment•Environmental chemicals are linked to learning and memory damage of children•AOP concept guide development of DNT in vitro testing strategy•Alternative approaches could support DNT regulatory testing
Pediatricians and other pediatric primary care providers may be consulted when families have concerns that their child is not making expected progress in school. Pediatricians care not only for an ...increasingly diverse population of children who may have behavioral, psychological, and learning difficulties but also for increasing numbers of children with complex and chronic medical problems that can affect the development of the central nervous system and can present with learning and academic concerns. In many instances, pediatric providers require additional information about the nature of cognitive, psychosocial, and educational difficulties that affect their school-aged patients. Our purpose for this report is to describe the current state of the science regarding educational achievement to inform pediatricians' decisions regarding further evaluation of a child's challenges. In this report, we review commonly available options for psychological evaluation and/or treatment, medical referrals, and/or recommendations for referral for eligibility determinations at school and review strategies for collaborating with families, schools, and specialists to best serve children and families.
PDF
