A case of hereditary transcobalamin II deficiency with neurological involvement is described. The patient presented in early infancy with megaloblastic anaemia and was treated with folinic acid from 6 weeks of age. The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit in the lim...

Background: Caregivers experience problems when caring for people with intellectual disabilities who are terminally ill. Aim: The aim of this study is to gain a deeper understanding of the experience of the caregiver when caring for a person with intellectual disabilities who is terminally ill and what influences this experience. Design: A qualitative research was carried out following the prin...

Our paper investigates the values fostered and inhibited by current Brain-computer Interface systems for the physically disabled. We report on a study conducted among 12 physically disabled individuals by employing Value Sensitive Design, a tripartite methodology accounting for human values in the design process. Our study reveals that current systems restrict independence, articulation, recrea...

Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years o...

BACKGROUND The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locu...

INTRODUCTION Kinesin superfamily (KIF) genes encode motor proteins that have fundamental roles in brain functioning, development, survival and plasticity by regulating the transport of cargo along microtubules within axons, dendrites and synapses. Mouse knockout studies support these important functions in the nervous system. The role of KIF genes in intellectual disability (ID) has so far rece...

various studies have been conducted to study the relationship between job involvement and organizational citizenship behavior but a very little work have been done to study the impact of both job involvement and organizational commitment on “organizational citizenship behavior”. thus the purpose of the study is to find out the relationship between job involvement, organizational commitment and ...

BACKGROUND Randomised controlled trials (RCTs) are the gold standard of evidence-based practice in medicine but they have had limited influence in the field of intellectual disabilities. Previous literature suggests that participants and professionals have limited tolerance for this type of research methodology. However, it is not known how well service users, carers and other health profession...

Canadian reports have recommended that health as a human right must be Canada's overarching global commitment and that the primacy of human rights should be prioritized over other elements of international law including international trade and investment law as it applies to access to pharmaceuticals. This paper uses a series of case reports to examine Canada's commitment to this goal. Specific...

BACKGROUND To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). METHODS In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestati...