Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.

OBJECTIVE: To update the 2011 Canadian guidelines for primary care of adults with intellectual and developmental disabilities (IDD). METHODS: Family physicians and other health professionals experienced in the care of people with IDD reviewed and synthesized recent empirical, ecosystem, expert, and experiential knowledge. A system was developed to grade the strength of recommendations. RECOMMENDATIONS: Adults with IDD are a heterogeneous group of patients and have health conditions and factors affecting their health that can vary in kind, manifestation, severity, or complexity from those of others in the community. They require approaches to care and interventions that are adapted to their needs. These guidelines provide advice regarding standards of care. References to clinical tools and other practical resources are incorporated. The approaches to care that are outlined here can be applied to other groups of patients that have impairments in cognitive, communicative, or other adaptive functioning. CONCLUSION: As primary care providers, family physicians play a vital role in promoting the health and well-being of adults with IDD. These guidelines can aid their decision making with patients and caregivers.

Soins primaires aux adultes ayant des déficiences intellectuelles et développementales: Lignes directrices consensuelles canadiennes de 2018.

OBJECTIF: Mettre à jour les Lignes directrices consensuelles canadiennes 2011 en matière de soins primaires aux adultes ayant une déficience développementale. MÉTHODES: Des médecins de famille et d'autres professionnels de la santé expérimentés dans les soins aux personnes ayant des DID ont examiné et synthétisé les récentes connaissances empiriques, d'écosystèmes, expertes et expérientielles. Un système a été conçu pour catégoriser la qualité des recommandations. RECOMMANDATIONS: Les adultes ayant des DID sont un groupe hétérogène de patients qui présentent des affections médicales et des facteurs qui influent sur leur santé, qui diffèrent de ceux qui touchent les autres membres de la communauté de par leur nature, leurs manifestations, leur gravité ou leur complexité. Ces personnes nécessitent une approche de soins et des interventions adaptées à leurs besoins. Les présentes lignes directrices offrent des conseils en matière de normes de soins. Nous avons incorporé des références à des outils cliniques et à d'autres ressources pratiques. Les approches de soins décrites ici s'appliquent aussi à d'autres groupes de patients ayant un déficit cognitif ou de la communication, ou d'autres déficits des fonctions adaptatives. CONCLUSION: À titre de fournisseurs de soins de première ligne, les médecins de famille jouent un rôle vital de promotion de la santé et de bien-être auprès des adultes ayant des DID. Ces lignes directrices peuvent les aider à prendre des décisions avec les patients et les aidants naturels.

Managing complexity in care of patients with intellectual and developmental disabilities: Natural fit for the family physician as an expert generalist.

OBJECTIVE: To delineate the factors inherent in caring for patients with intellectual and developmental disabilities (IDD) that lead to complexity and to provide perspectives and techniques mapped to the phases of the clinical encounter. SOURCES OF INFORMATION: The authors of the physical health section of the 2018 Canadian consensus guidelines on the primary care of adults with IDD consisted of family physicians, all of whom practise comprehensive family medicine with additional clinical experience in care of adults with IDD. These authors reviewed evidence on which their recommendations are based and these recommendations have undergone a rigorous peer review to ensure that they deserve special attention because they highlight what is different from what a family physician would consider to constitute "normal care" for the general population. MAIN MESSAGE: Additional factors across the phases of clinical encounters with patients with IDD include the need for the following: an initial assessment that identifies genetic or neurologic conditions to guide anticipatory care and isolates unique barriers to health promotion and chronic disease management; adaptations to history taking, particularly for patients who are unable to describe symptoms owing to cognitive and communication deficits; overcoming challenges to performing physical examinations and certain investigations; addressing uncertainty in the formulation of hypotheses to establish an appropriate diagnosis; and involvement of resources of the developmental services sector to provide a management plan as well as an adapted empathetic approach in order to integrate the patient's illness experience. CONCLUSION: Although each patient with IDD is unique, and care of patients with IDD requires knowledge of certain conditions, these considerations are readily identifiable, and family physicians as expert generalists are well equipped to provide excellent care to patients with IDD.

MicroRNA dysregulation in response to RARß2 inhibition reveals a negative feedback loop between MicroRNAs 1, 133a, and RARß2 during tail and spinal cord regeneration in the adult newt.

BACKGROUND: The molecular events underlying epimorphic regeneration of the adult urodele amphibian tail and caudal spinal cord are undetermined. Given the dynamic nature of gene expression control by retinoic acid (RA) signaling and the pleiotropic effects of microRNAs (miRNAs) on multiple mRNA targets in this complex system, we examined whether RA signaling through a specific receptor, RARß2, alters expression of select miRNAs during spinal cord regeneration. RESULTS: An initial screen identified 18 highly conserved miRNAs dysregulated in regenerating tail and spinal cord tissues after inhibition of RARß2 signaling with a selective antagonist, LE135. miRNAs let-7c, miR-1, and miR-223 were expressed within the ependymoglial cells, coincident spatially with the expression of RARß2. Altering the expression pattern of these three miRNAs led to a significant inhibition of caudal ependymal tube outgrowth by 21 days post tail amputation. We demonstrated that miR-1 targets the 3'-untranslated region of RARß2 mRNA in vitro; and in vivo, up-regulation of miR-1 led to a significant decrease in RARß2 protein. CONCLUSIONS: These and previous data suggest that miR-1 and miR-133a, both members of the same miRNA gene cluster, may participate with RARß2 in a negative feedback loop contributing to the regulation of the ependymal response after tail amputation.

Expression of a retinoic acid receptor (RAR)-like protein in the embryonic and adult nervous system of a protostome species.

The vitamin A metabolite, retinoic acid, is an important molecule in nervous system development and regeneration in vertebrates. Retinoic acid signaling in vertebrates is mediated by two classes of nuclear receptors, the retinoid X receptors (RXRs) and the retinoic acid receptors (RARs). Recently, evidence has emerged to suggest that many effects of retinoic acid are conserved between vertebrate and invertebrate nervous systems, even though the RARs were previously thought to be a vertebrate innovation and to not exist in non-chordates. We have cloned a full-length putative RAR from the CNS of the mollusc Lymnaea stagnalis (LymRAR). Immunoreactivity for the RAR protein was found in axons of adult neurons in the central nervous system and in growth cones of regenerating neurons in vitro. A vertebrate RAR antagonist blocked growth cone turning induced by exogenous all-trans retinoic acid, possibly suggesting a role for this receptor in axon guidance. We also provide immunostaining evidence for the presence of RAR protein in the developing, embryonic CNS, where it is also found in axonal processes. Using qPCR, we determined that LymRAR mRNA is detectable in the early veliger stage embryo and that mRNA levels increase significantly during embryonic development. Putative disruption of retinoid signaling in Lymnaea embryos using vertebrate RAR antagonists resulted in abnormal eye and shell development and in some instances completely halted development, resembling the effects of all-trans retinoic acid. This study provides evidence for RAR functioning in a protostome species.