Assessment and Management of ID in Childhood

Intellectual disability is a neurodevelopment disorder that affects the intellectual and adaptive functioning. The individual fails to meet standards of personal independence and social responsibility in one or more aspects of daily life, including communication, social participation, academic or occupational functioning, and personal independence at home or in community settings. There is an immense need to understand and be aware of the signs and symptoms of the disorder. This chapter focuses on the process of the assessment which is necessary to identify intellectual deficiency and also the issues that should be taken care of during the process. The various principles and tools of assessment, which can be used to measure IQ, are mentioned. It also focuses on the various challenging behaviors and functional analysis. It also focuses on recent and efficient management strategies that can be used to help the affected person cope and acquire new skills.

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

X-linked intellectual deficiency (XLID) is a widely heterogeneous group of genetic disorders that involves more than 100 genes. The mediator of RNA polymerase II subunit 12 (MED12) is involved in the regulation of the majority of RNA polymerase II-dependent genes and has been shown to cause several forms of XLID, including Opitz-Kaveggia syndrome also known as FG syndrome (MIM #305450), Lujan-Fryns syndrome (MIM #309520) and the X-linked Ohdo syndrome (MIM #300895). Here, we report on two first cousins with X-linked Ohdo syndrome with a missense mutation in MED12 gene, identified through whole exome sequencing. The probands had facial features typical of X-linked Ohdo syndrome, including blepharophimosis, ptosis, a round face with a characteristic nose and a narrow mouth. Nextera DNA Exome kit (Illumina Inc., San Diego, CA, USA) was used for exome capture. The variant identified was a c.887G > A substitution in exon 7 of the MED12 gene leading to the substitution of a glutamine for a highly conserved arginine (p. Arg296Gln). Although the variant described has been previously reported in the literature, our study contributes to the expanding phenotypic spectrum of MED12-related disorders and above all, it demonstrates the phenotypic variability among different affected patients despite harboring identical mutations.

The accessibility of rail transport to people with reduced mobility – case study

The means of rail transport as well as other modes of transport primarily enable people to easily overcome certain distances over a period of time. This implies the need for it to be adapted to such specificities, together with other elements in places where high concentrations of passengers are exchanged. This paper deals with a common problem of accessibility of rail transport to people with reduced mobility (PRM). PRM refers to people whose mobility is reduced due to physical incapacity, an intellectual deficiency, age, illness or any other cause of disability when using transport. Therefore, a thorough analysis of accessibility of rail transport to this group of passengers will be conducted for the city of Zagreb according to certain indicators. The rail station is considered to be accessible if a PRM passenger can enter passenger terminal, consume services available there and if is able to get to the platform from where the train will depart. The rolling stock is accessible if a PRM passenger can buy a ticket, enter the train and have predicted and available space in the train. By determining the real state of accessibility to PRM passengers of all railway stations and used rolling stock in suburban rail transit in the city of Zagreb, measures will be proposed to increase accessibility to these passengers and thus facilitate their integration into society in this segment and increase their quality of life.

Seeing the forest and the trees: Disentangling autism phenotypes in the age of DSM-5

This paper, written in honor of Professor Ed Zigler, focuses on some of the themes in developmental disabilities research that were so central to his work. It has now been nearly 80 years since Leo Kanner first identified the prototypic form – early infantile autism – of what is now autism spectrum disorder. In this article we summarize the development of the concept and the important accumulation of knowledge over time that has now led us to the recognition of a broader autism phenotype just as, at the same time, the current official diagnostic system in the USA has narrowed the concept. We also address current controversies regarding autism as the diagnosis is impacted by age and developmental factors, gender, and cultural issues. In parallel to the work on intellectual deficiency and development pioneered by Zigler and his colleagues, we summarize some of the challenges for the years ahead.

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly

IntroductionLoss-of-function mutations in tRNA methyltransferase 10 homologue A (TRMT10A), a tRNA methyltransferase, have recently been described as a monogenic cause of early-onset diabetes with microcephaly, epilepsy and intellectual disability.Research design and methodsWe report a Chinese young patient who was diagnosed with diabetes mellitus as a result of a TRMT10A mutation.ResultsA homozygous mutation c.496–1G>A in TRMT10A was identified using targeted next-generation sequencing and confirmed by PCR/Sanger sequencing. In addition to being diagnosed with diabetes, the patient also has microcephaly and intellectual deficiency. The diabetes was due to marked insulin resistance and responded very well to metformin treatment.ConclusionOur case is the first report in the Asian population. It adds to current knowledge of TRMT10A related with young-onset non-insulin-dependent diabetes and confirms the a single previous report of insulin resistance in this syndrome. Genomic testing should be considered in children with non-insulin-dependent diabetes with intellectual disability and microcephaly. A clear genetic diagnosis is helpful for early detection and treatment addressing insulin resistance.

“Social policy and intelligence” Redux: a tribute to Edward Zigler

I present a theory of adaptive intelligence and discuss why I believe adaptive intelligence, rather than general intelligence, is the kind of intelligence upon which we should focus in today's world. Adaptive intelligence is the ability to adapt to, shape, and select real-world environments in ways that result in positive outcomes not only for oneself, but also for others and the world. Edward Zigler was among the first to recognize the importance of levels of adaptation to intellectual deficiency, arguing from early on that intellectual challenges needed to be recognized not just in terms of IQ but also in terms of adaptive functioning. Adaptive intelligence is compared to and contrasted with general intelligence, which is usually defined as the first factor in a factor analysis of psychometric tests. I first introduce the main issues in the article. Then I discuss how one even would decide what intelligence is. Next I discuss broader theories of intelligence and especially the theory of adaptive intelligence. Then I talk about the perishability of theories of intelligence and other things—to what extent are they set up so that people are willing and able to move beyond them? Finally, I discuss how individual outcomes do not necessarily predict collective outcomes.