Deprivation, ethnicity and the prevalence of intellectual and developmental disabilities

Background Social gradients and ethnic disparities have been reported in some forms of intellectual and developmental disabilities. However, information on the association between area deprivation, ethnicity and other forms of intellectual and developmental disabilities are inconclusive. Aim To estimate the independent association between household disadvantage, local area deprivation, ethnicity and the identification of intellectual and developmental disability. Methods Cross-sectional survey involving multilevel multivariate analyses of data extracted from educational records on household disadvantage, local area deprivation, ethnicity and identified intellectual and developmental disability in a sample of English children aged 7–15 years (n=5.18 million). Results Lower household socio-economic position was associated with increased rates of identification of intellectual and developmental disabilities especially less severe forms of intellectual disability. Higher area deprivation was independently associated with increased rates of identification of less severe forms of intellectual disability but decreased rates of identification of profound multiple intellectual disability and autism spectrum disorder. Minority ethnic status was, in general, associated with lower rates of identification of intellectual and developmental disabilities. Exceptions to this general pattern included higher rates of identification of less severe forms of intellectual disability among Gypsy/Romany and Traveller children of Irish heritage, and higher rates of identification of more severe forms of intellectual disability among children of Pakistani and Bangladeshi heritage. Conclusions Children whose development is already compromised (and especially children with less severe intellectual disabilities) are at increased risk of exposure to social conditions that are themselves inimical to healthy development

Natural Radiation Induced Developmental Disability: An Avian Model

Radiation exposure during gestation causes mutation in the fetus leading to birth defects in the newborn. On a survey of the coastal villages of Kanyakumari District, Tamilnadu, India, high levels of background radiation were detected, which was suggestive of inducing mutations, and congenital abnormalities in the exposed population. To substantiate the dangerous impact of such natural radioactive emissions, we have established an avian model of irradiation-induced birth defect in chicks hatched from eggs exposed to natural radioactive beach sand. The hatched experimental chicks exhibited severe locomotor disability and extreme malformations. Our study proves for the first time, that natural beach sand radiation induces severe developmental abnormalities. The results of this experiment brings to light, the importance of radiation-protection during gestation and also the need for monitoring and cleaning of radioactive sand deposits in beaches all over the world

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.

BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor skills. High co-occurrence (comorbidity) of NDDs indicates a shared, underlying biological mechanism. The genetic heterogeneity and overlap observed in NDDs make it difficult to identify the genetic causes of specific clinical symptoms, such as seizures. METHODS:We present a computational method, MAGI-S, to discover modules or groups of highly connected genes that together potentially perform a similar biological function. MAGI-S integrates protein-protein interaction and co-expression networks to form modules centered around the selection of a single "seed" gene, yielding modules consisting of genes that are highly co-expressed with the seed gene. We aim to dissect the epilepsy phenotype from a general NDD phenotype by providing MAGI-S with high confidence NDD seed genes with varying degrees of association with epilepsy, and we assess the enrichment of de novo mutation, NDD-associated genes, and relevant biological function of constructed modules. RESULTS:The newly identified modules account for the increased rate of de novo non-synonymous mutations in autism, intellectual disability, developmental disability, and epilepsy, and enrichment of copy number variations (CNVs) in developmental disability. We also observed that modules seeded with genes strongly associated with epilepsy tend to have a higher association with epilepsy phenotypes than modules seeded at other neurodevelopmental disorder genes. Modules seeded with genes strongly associated with epilepsy (e.g., SCN1A, GABRA1, and KCNB1) are significantly associated with synaptic transmission, long-term potentiation, and calcium signaling pathways. On the other hand, modules found with seed genes that are not associated or weakly associated with epilepsy are mostly involved with RNA regulation and chromatin remodeling. CONCLUSIONS:In summary, our method identifies modules enriched with de novo non-synonymous mutations and can capture specific networks that underlie the epilepsy phenotype and display distinct enrichment in relevant biological processes. MAGI-S is available at https://github.com/jchow32/magi-s

Learning from Other Communities

This paper reflects a synopsis of the work in person/family-centered planning representative of its implementation across a variety of disability service systems, including prisons, schools, community-based service agencies and institutional settings. The authors who have contributed to this paper have direct experience in the field working with individuals who have disability labels of severe and persistent mental illness, mental retardation and developmental disabilities, and learning disabilities. It is their hope that this paper will serve to guide the emerging best practice in the design and delivery of person-centered service delivery systems

Understanding intellectual disability through RASopathies

Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies.Fil: San Martín, Alvaro. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Fisiología y Biofísica Bernardo Houssay. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Fisiología y Biofísica Bernardo Houssay; ArgentinaFil: Pagani, Mario Rafael. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Fisiología y Biofísica Bernardo Houssay. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Fisiología y Biofísica Bernardo Houssay; Argentin

Diabetes and People with Intellectual Disability

Intellectual disability is present in 2.7% of the population (19). For a person to have intellectual disability, three conditions must be satisfied. The person must: - have an IQ below 70 - have deficits in at least two areas of adaptive functioning - have the onset of disability before the age of 18 years (1). 'Developmental disability' is another term used. It is 'differences in neurologically-based functions associated with significant long-term difficulties (1)'. In 1998 half a million Australians were found to have developmental disability (3). The two definitions, intellectual disability and developmental disability, are very similar. Diabetes mellitus is present in this population, as in any other group of people. We do not know the exact prevalence of diabetes mellitus (DM) in people with intellectual disability (PWID) but it is likely to be higher than in the general population. Type 1 DM is up to 35 times as common in people with ID (2). Type 2 DM is also common, but there is no reliable estimate of its prevalence

Occupational therapy in Malta today : an enabling profession

Occupational Therapy can be described as the use of purposeful activity or intervention designed to achieve functional outcomes which promote health, prevent injury or disability and which develop, improve, sustain or restore the highest possible level of independence of any individual who has an illness, injury, cognitive impairment, psychosocial dysfunction, mental illness, developmental learning disability, or other disorder. Occupational Therapy departments are to be found in the main hospitals in Malta and Gozo, as well as in the community. This article looks at the origins and developments of Occupational Therapy and the present rehabilitation service delivery.peer-reviewe

Developmental coordination disorder: A discrete disability

Children with Developmental Coordination Disorder (DCD) have a motor learning disability that reduces their ability to interact with the environment and compromises their social and emotional development. Accordingly, these children should be given the extra assistance and consideration given to children with other learning difficulties. Even though many countries have well developed policies to support students at educational risk, children with movement difficulties are not widely considered to be members of this category. This paper argues for a change in education policy and practice in order to better support children with DCD or Motor Learning Disability (MLD). Improved teacher education practices, community education of professionals and parents and a greater interaction between parents, teachers and therapists will enrich the educational experiences of these children. A first step, however is to acknowledge that DCD is a motor learning disability (MLD) and consider adopting this alternative term. While focussing on the Australian perspective, this paper has implications for education policy and practice in all countries

Severe congenital microcephaly with AP4M1 mutation, a case report

Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of essentially postnatal onset. Case presentation: We report on a patient with severe microcephaly of prenatal onset, and progressive spasticity, developmental delay, and severe intellectual deficiency. Exome sequencing showed a homozygous mutation in AP4M1, causing the replacement of an arginine by a stop codon at position 338 of the protein (p.Arg338X). The premature stop codon truncates the Mu homology domain of AP4M1, with predicted loss of function. Exome analysis also showed heterozygous variants in three genes, ATR, MCPH1 and BLM, which are known causes of autosomal recessive primary microcephaly. Conclusions: Our findings expand the AP4M1 phenotype to severe microcephaly of prenatal onset, and more generally suggest that the AP4 defect might share mechanisms of prenatal neuronal depletion with other genetic defects of brain development causing congenital, primary microcephaly

DEECD Early Childhood Intervention Reform Project

This literature review was commissioned by the Office for Children and Early Childhood Development, Department of Education and Early Childhood Development (DEECD), as part of its Early Childhood Intervention Services (ECIS) Reform Project (Stage 2): Developing Options and Next Steps. This Project aims to significantly enhance the efficiency, effectiveness and sustainability of Victoria’s ECIS system and improve outcomes for children with a disability or developmental delay and their families. Early childhood intervention services (ECIS) support children with a disability or developmental delay from birth to school entry and their families. ECIS provides special education, therapy, counselling, service planning and coordination, assistance and support to access services such as kindergarten and child care. The services funded through DEECD are provided by government Specialist Children\u27s Services teams and non-government Early Childhood Intervention agencies. In addition to the services provided by ECIS teams and agencies, the state and federal governments fund a range of complementary programs to support young children with developmental disabilities and their families. These include initiatives to support families (My Time parent groups, Family Support Packages), services to support inclusion (Preschool Field Officers, Inclusion Support Facilitators), and funding to support particular disability groups (Helping Children with Autism packages). These additional services and supports, together with the ECIS teams and agencies, make up the totality of early childhood intervention provision for young children with disabilities. The focus of the literature review is research on contemporary Australian and international evidence-based service delivery models for children with a disability, developmental delay or additional needs aged 0-8 years