Mental retardation pathophysiology

Mental retardation Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Mental retardation from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Mental retardation pathophysiology On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Mental retardation pathophysiology

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Mental retardation pathophysiology

CDC on Mental retardation pathophysiology

Mental retardation pathophysiology in the news

Blogs on Mental retardation pathophysiology

Directions to Hospitals Treating Mental retardation

Risk calculators and risk factors for Mental retardation pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  Chelsea Mae Nobleza, M.D.[2]

## Overview

[edit | edit source]

The exact pathogenesis of intellectual disability is not fully understood but most researches focused on genes that specifically code for cognitive characteristics and are mostly X-linked.

## Pathophysiology

[edit | edit source]

Intellectual disorders with intact cortex have found that most of the known genes influencing cognitive abilities are X-linked. These genes code for different proteins and some are involved in neuronal connectivity and synapse formation and activity. Recent progress in unraveling the pathophysiology of ID involves defects in synaptogenesis and synaptic activities, including neuroplasticity. An important finding that illustrates the importance of synapses in the occurrence of ID involves the FMRP protein that is absent in Fragile X syndrome. The FMRP protein is normally detected in the nucleus, body, and dendrites. It is upregulated by glutamate-mediated stimulation—the specific knockout of Fmr1 results in abnormal morphology of dendrites in Purkinje cells in the cerebellum. Therefore, defects in synaptic structure and overall neuronal connectivity impairs proper information processing. [1] [2]

## Pathophysiology

[edit | edit source]

### Physiology

[edit | edit source]

The normal physiology of [name of process] can be understood as follows:

### Pathogenesis

[edit | edit source]

* The exact pathogenesis of [disease name] is not completely understood.

* It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
* [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
* Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
* [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
* The progression to [disease name] usually involves the [molecular pathway].
* The pathophysiology of [disease/malignancy] depends on the histological subtype.

## Genetics

[edit | edit source]

[Disease name] is transmitted in [mode of genetic transmission] pattern.

Genes involved in the pathogenesis of [disease name] include:

* [Gene1]
* [Gene2]
* [Gene3]

The development of [disease name] is the result of multiple genetic mutations such as:

* [Mutation 1]
* [Mutation 2]
* [Mutation 3]

## Associated Conditions

[edit | edit source]

Conditions associated with [disease name] include:

* [Condition 1]
* [Condition 2]
* [Condition 3]

## Gross Pathology

[edit | edit source]

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

## Microscopic Pathology

[edit | edit source]

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

## References

[edit | edit source]

1. ↑ Chelly, Jamel; Khelfaoui, Malik; Francis, Fiona; Chérif, Beldjord; Bienvenu, Thierry (2006). "Genetics and pathophysiology of mental retardation". European Journal of Human Genetics. 14 (6): 701–713. doi:10.1038/sj.ejhg.5201595. ISSN 1018-4813.
2. ↑ Koekkoek, S.K.E.; Yamaguchi, K.; Milojkovic, B.A.; Dortland, B.R.; Ruigrok, T.J.H.; Maex, R.; De Graaf, W.; Smit, A.E.; VanderWerf, F.; Bakker, C.E.; Willemsen, R.; Ikeda, T.; Kakizawa, S.; Onodera, K.; Nelson, D.L.; Mientjes, E.; Joosten, M.; De Schutter, E.; Oostra, B.A.; Ito, M.; De Zeeuw, C.I. (2005). "Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome". Neuron. 47 (3): 339–352. doi:10.1016/j.neuron.2005.07.005. ISSN 0896-6273.

Template:WH

Template:WS