Early childhood development strategy for the world's children with disabilities.

Early childhood is foundational for optimal and inclusive lifelong learning, health and well-being. Young children with disabilities face substantial risks of sub-optimal early childhood development (ECD), requiring targeted support to ensure equitable access to lifelong learning opportunities, especially in low- and middle-income countries. Although the Sustainable Development Goals, 2015-2030 (SDGs) emphasise inclusive education for children under 5 years with disabilities, there is no global strategy for achieving this goal since the launch of the SDGs. This paper explores a global ECD framework for children with disabilities based on a review of national ECD programmes from different world regions and relevant global ECD reports published since 2015. Available evidence suggests that any ECD strategy for young children with disabilities should consists of a twin-track approach, strong legislative support, guidelines for early intervention, family involvement, designated coordinating agencies, performance indicators, workforce recruitment and training, as well as explicit funding mechanisms and monitoring systems. This approach reinforces parental rights and liberty to choose appropriate support pathway for their children. We conclude that without a global disability-focussed ECD strategy that incorporates these key features under a dedicated global leadership, the SDGs vision and commitment for the world's children with disabilities are unlikely to be realised.

Cerebral palsy and developmental intellectual disability in children younger than 5 years: Findings from the GBD-WHO Rehabilitation Database 2019.

Objective: Children with developmental disabilities are associated with a high risk of poor school enrollment and educational attainment without timely and appropriate support. Epidemiological data on cerebral palsy and associated comorbidities required for policy intervention in global health are lacking. This paper set out to report the best available evidence on the global and regional prevalence of cerebral palsy (CP) and developmental intellectual disability and the associated "years lived with disability" (YLDs) among children under 5 years of age in 2019. Methods: We analyzed the collaborative 2019 Rehabilitation Database of the Global Burden of Disease (GBD) Study and World Health Organization for neurological and mental disorders available for 204 countries and territories. Point prevalence and YLDs with 95% uncertainty intervals (UI) are presented. Results: Globally, 8.1 million (7.1-9.2) or 1.2% of children under 5 years are estimated to have CP with 16.1 million (11.5-21.0) or 2.4% having intellectual disability. Over 98% resided in low-income and middle-income countries (LMICs). CP and intellectual disability accounted for 6.5% and 4.5% of the aggregate YLDs from all causes of adverse health outcomes respectively. African Region recorded the highest prevalence of CP (1.6%) while South-East Asia Region had the highest prevalence of intellectual disability. The top 10 countries accounted for 57.2% of the global prevalence of CP and 62.0% of the global prevalence of intellectual disability. Conclusion: Based on this Database, CP and intellectual disability are highly prevalent and associated with substantial YLDs among children under 5 years worldwide. Universal early detection and support services are warranted, particularly in LMICs to optimize school readiness for these children toward inclusive education as envisioned by the United Nations' Sustainable Development Goals.

The contributions of William Money MRCS to smallpox vaccination and control - A little-known story.

This history of vaccinology article outlines the work of William Money (1790-1843), who conducted a study related to smallpox disease, immunity, and vaccination. His hitherto unpublished study demonstrated that smallpox could be contracted more than once; notably, results from his studies showed that vaccination was not dangerous. He was also the author of a celebrated Vade Mecum in human anatomy. Here, we outline the work he conducted in England: from serving as the house surgeon at Northampton Infirmary to his post as a surgeon at the Royal Metropolitan Hospital in London.

Was William Harvey's commitment to experimentation reflected in his clinical practice?

The physician and physiologist Dr William Harvey is known for having discovered that the heart pumps arterial blood round the whole body and receives venous blood from the periphery, which it forwards to the lungs for reoxygenation. Harvey's discovery was based on anatomical and physiological evidence and experiments using ligatures of varying tensions. As a clinician, however, Harvey does not appear to have appreciated the value of experiments in assessing treatment effects. Although he criticised Galenic views about the clinical value of experience and authority in the absence of accompanying empirical evidence, two handwritten prescriptions that he wrote for his friend and future biographer John Aubrey provide evidence that he conformed with Galenic theory when it came to drug therapy in clinical practice. This was consistent with his senior position in the College of Physicians, whose Pharmacopoeia Londinensis was based on Galenic principles, an appreciation of which was required for entry into the College. Harvey's prescriptions reflect this and open a window onto 17th-century therapeutic practice and the personal elements on which such practice was sometimes based.

Global Burden of Childhood Epilepsy, Intellectual Disability, and Sensory Impairments.

BACKGROUND: Estimates of children and adolescents with disabilities worldwide are needed to inform global intervention under the disability-inclusive provisions of the Sustainable Development Goals. We sought to update the most widely reported estimate of 93 million children <15 years with disabilities from the Global Burden of Disease Study 2004. METHODS: We analyzed Global Burden of Disease Study 2017 data on the prevalence of childhood epilepsy, intellectual disability, and vision or hearing loss and on years lived with disability (YLD) derived from systematic reviews, health surveys, hospital and claims databases, cohort studies, and disease-specific registries. Point estimates of the prevalence and YLD and the 95% uncertainty intervals (UIs) around the estimates were assessed. RESULTS: Globally, 291.2 million (11.2%) of the 2.6 billion children and adolescents (95% UI: 249.9-335.4 million) were estimated to have 1 of the 4 specified disabilities in 2017. The prevalence of these disabilities increased with age from 6.1% among children aged <1 year to 13.9% among adolescents aged 15 to 19 years. A total of 275.2 million (94.5%) lived in low- and middle-income countries, predominantly in South Asia and sub-Saharan Africa. The top 10 countries accounted for 62.3% of all children and adolescents with disabilities. These disabilities accounted for 28.9 million YLD or 19.9% of the overall 145.3 million (95% UI: 106.9-189.7) YLD from all causes among children and adolescents. CONCLUSIONS: The number of children and adolescents with these 4 disabilities is far higher than the 2004 estimate, increases from infancy to adolescence, and accounts for a substantial proportion of all-cause YLD.

Thinking outside the box in clinical practice.

During difficult times we forget that as healthcare practitioners we are immensely privileged. We have a job, with regular work and generally don't have to worry about putting food on our families' table. But from a humanities perspective, we also have front row seats on the drama of life and no two days can be the same. Yet as we struggle to master our profession, the day to day realities of the job itself struggles to master us. If we become 'too hard' we may be fully competent yet fail to discharge our duties properly; however, should we become 'too soft', we may find ourselves not being able to discharge those duties at all. Striking that 'happy' balance is a decision we each make for ourselves every day during our decades of practice. For me, it has been necessary from the outset to include medical humanities within the clinico-medical perspective of daily practice. My definition of Medical Humanities will not only include medical history but also, stories, films and plays. This article relates some practices which I have found useful.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1. METHODS: We selected a cohort of 99 PCH patients (90 families) tested negative for mutations in the TSEN genes, RARS2, VRK1 and CASK. Patients in this cohort were referred with a tentative diagnose PCH type 1, 2, 4, 7 or unclassified PCH. Genetic analysis of the EXOSC3 gene was performed using Sanger sequencing. Clinical data, MR images and autopsy reports of patients positive for EXOSC3 mutations were analyzed. RESULTS: EXOSC3 mutations were found in twelve families with PCH subtype 1, and were not found in patients with other PCH subtypes. Identified mutations included a large deletion, nonsense and missense mutations. Examination of clinical data reveals a prolonged disease course in patients with a homozygous p.D132A mutation. MRI shows variable pontine hypoplasia in EXOSC3 mediated PCH, where the pons is largely preserved in patients with a homozygous p.D132A mutation, but attenuated in patients with other mutations. Additionally, bilateral cerebellar cysts were found in patients compound heterozygous for a p.D132A mutation and a nonsense allele. CONCLUSIONS: EXOSC3 mediated PCH shows clear genotype-phenotype correlations. A homozygous p.D132A mutation leads to PCH with possible survival into early puberty, and preservation of the pons. Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons.

Timing of gastrostomy insertion in children with a neurodisability: a cross-sectional study of early versus late intervention.

OBJECTIVES: The aim of the study was to assess whether gastrostomy placement before 18 months of age results in a greater increase in z-score for weight and to assess whether admission rates were reduced postgastrostomy in this age group. DESIGN: Retrospective cross-sectional study. SETTING: Single-centre secondary care District General Hospital. PARTICIPANTS: All children with a neurodisability with a gastrostomy in situ in September 2011 were included. Those with primary neoplasia and undergoing chemo or radiotherapy or being palliated for an aggressive neurodegenerative disorder were excluded. Those with cystic fibrosis, primary congenital heart disease or Inflammatory bowel disease were also excluded. Forty-one children underwent final analysis. Twenty-four children underwent gastrostomy insertion less than 18 months and 17 children were older than 18 months. PRIMARY AND SECONDARY OUTCOME MEASURES: Primary outcome was z-scores for weight immediately pregastrostomy and 12 months postgastrostomy. Secondary outcomes were hospital admission rates pregastrostomy and postgastrostomy. Values were compared for those with gastrostomy insertion less than or equal to 18 months against those older than 18 months at insertion. RESULTS: Z-score for weight increased significantly in both age groups. There was significantly increased mean difference in the z-score for weight of +1.33 pregastrostomy and postgastrostomy in the less than 18 months age group as compared with an increased mean difference in the z-score for weight of +0.45 in the older age group (p=0.021). There was no significant difference in the admission rates postgastrostomy insertion in either age group. CONCLUSIONS: Gastrostomy insertion before 18 months of age results in greater z-score for weight gain in children with a neurodisability. This conclusion is limited by the lack of height and skin-fold thickness measurements. Further long-term matched control studies are required to determine the neurodevelopmental and clinical benefit of early gastrostomy placement in such children.

"To illustrate and increase Chyrurgerie": Ambroise Paré (1510-1590).

The quincentenary of Ambroise Paré's birth celebrates a man who rose from a humble origin to become the leading surgeon of the Renaissance. Now remembered as a celebrated war surgeon, especially for his gentle treatment of gunshot wounds, it is generally forgotten that Paré also treated children and wrote about them. Despite his little schooling, Paré was appointed as the Head of the French College of Surgeons in 1567. Paré's contributions to child health include conservative management of childhood deformities, such as clubfoot and scoliosis. He also gave descriptions of conjoined twins and intersex. Paré managed childhood trauma and bladder stones using devices that he invented. This article will briefly demonstrate Paré's wide-ranging contribution to pediatric surgery, adding new insights and material to earlier work.

Chapter 22: a history of child neurology and neurodisability.

This chapter reviews the fascinating history of child neurology and neurodisability from amongst its earliest recorded origins, Mesopotamian tablets, through to magnetic resonance imaging. It is the first review of such breadth in this area since Levinson in 1948. As well as covering the traditionally covered areas namely cerebral palsy, epilepsy, and mental retardation, the chapter explores other areas of pediatric neurodisability that have, since Levinson, become mainstream practice and now fall within this area of specialty. These conditions include the autistic spectrum disorders and attention deficit disorder. The dramatic advances in neural imaging and genetics in helping to explain different pediatric neurological conditions are also discussed as well as concepts and understanding concerning recovery from brain damage. The changing epidemiology of neurodisability through effective advances in acute neonatal and pediatric medical care, screening programs and social interventions are also related. Lastly, the fundamental reappraisal of society's attitude toward the disabled following World War II is explored. The lives of the disabled began to be seen to have value, belatedly gaining legal protection against discrimination, gaining dignity, independence, and for the first time being listened to.