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Query: UMLS:C0025362 (mental retardation)
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The authors review the literature on pain experience and pain assessment in people with cognitive impairments, focusing on individuals with dementia and mental retardation. The impact of cognitive impairments on pain sensation is not well understood, although some observations have been published. For example, research suggests that pain experience can be influenced by neuropathological processes in the brain and memory impairments. Reporting of pain decreases as cognitive impairment increases. In addition, poor verbal skills lead to difficulties in communicating pain. Pain assessment depends primarily on one's ability to describe the dimensions of pain. Individuals with limited ability to report pain can use pain assessment methods that rely on simple cognitive tasks. For individuals who have no ability to report pain, an outside observer must describe the discomfort experienced by interpreting the patient's body language. The authors conclude that further research is needed to develop valid and reliable assessment methods for people with cognitive impairments.
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PMID:Experience and assessment of pain in individuals with cognitive impairments. 1258 Mar 55

Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment. There is an increased risk of growth disturbances in the very young. The orthopedic operations should therefore be planned from a long-term point of view, but patient education and orthosis are cornerstones in the treatment--to delay the development of neuropathic arthropathy. Arthrodesis, limb lengthening and spinal decompression with fusions are the only elective procedures that seem reasonable. This Norrbottnian disease is also interesting as a model system for the study of pain.
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PMID:Norrbottnian congenital insensitivity to pain. 1676 23

The current study investigated differences in the development of temperament for normally developing infants and infants with Down Syndrome (DS). DS has been described as the most prevalent cause for mental retardation, and its effects on the central nervous system may also influence the development of temperament. Parents of 3 to 12 month-old normally developing infants and infants with DS completed the Infant Behavior Questionnaire-Revised (IBQ-R). Results indicated that parents of infants with DS described their children as exhibiting higher levels of temperament dimensions associated with Orienting/Regulating Capacity, and lower levels of attributes collectively referred to as Negative Affectivity, relative to comparison children. Specifically, infants with DS were reported to exhibit lower levels of Distress to Limitations, higher levels of Low Intensity Pleasure, Duration of Orienting, Falling Reactivity, and Cuddliness/Affiliation. No significant differences were found between IBQ-R factor intercorrelations for children with DS and normatively developing infants.
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PMID:Infant Temperament: An Evaluation of Children with Down Syndrome. 1835 41

Background. Noncompaction/hypertrabeculation left ventricle (NCM/HVM) is most commonly reported in one or more segments of left ventricle and sometimes both ventricles. In this case, we present noncompaction of all segments of right and left ventricle, in a young man with mental retardation. Case Presentation. A 19-year-old male was referred to us with sudden dyspnea at rest and chest discomfort. He was a known case of mental retardation. He was born full term with birth weight = 1250 grams. On physical examination. A systolic murmur (II/VI) at left sternal border was heard. ECG showed increased voltage in precordial lead and deep ST segment depression. Chest X-ray (CXR) was within normal limits. Transthoracic echocardiography showed situs solitus, D loop, normal connection of great vessels, noncompaction LV at all segments (noncompaction/compaction = 2.5/0.5) with moderate systolic dysfunction (LVEF = 40%), diastolic dysfunction grade II, normal RV size with mild systolic dysfunction and hypertrabeculation, mild tricuspid regurgitation (TR), and normal pulmonary artery systolic pressure. After injection of agitated saline some bubbles were passed from right to left through patent foramen oval (PFO). Conclusions. Extensive sinusoid formation and trabeculation of RV and nearby all LV segments and its association with mental retardation suggest presence of strong genetic background.
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PMID:A case of noncompaction at all segments of both right and left ventricles. 2552 24

Domestic abuse is prevalent in all strata of society and has been associated with various mental health problems. However, the severity of abuse in women with mental illness has not been studied much. The amount of distress experienced often depends on the severity of domestic abuse. Ability to tolerate distress may buffer the effect of abuse-this determines the perceived level of abuse. Both the severity of abuse and distress tolerance may in turn determine adherence behaviour towards treatment in mentally ill women. There is a paucity of research examining these variables. Hence this study was undertaken to examine the severity of abuse and distress tolerance and their relationship with medication adherence in women with mental illness. This study took place on an outpatient basis in the department of psychiatry at a tertiary care centre in South India. One hundred women with a mental illness currently in remission for at least two months -living in the community with family members after an episode of mental illness- were consecutively recruited by purposive sampling method after obtaining an informed consent. Due to issues related to reliability, patients with a diagnosis of mental retardation or dementia or psychotic symptoms were not included. All participants were initially assessed using socio-demographic and clinical forms. The severity of abuse was assessed with Composite Abuse Scale (CAS) and the level of distress tolerance was evaluated with Distress Tolerance Scale (DTS). Medication adherence status was assessed with the commonly used Morisky Medication Adherence Scale (MMAS). There was a high level of abuse (mean 20.33, SD=20.55) and distress tolerance (mean 26.80, SD=12.07) in this sample as compared to those in general population. Scores in domestic abuse had a significant positive association with Tolerance (p=0.001) and Absorption (p=0.014) subscales of distress tolerance. Scores in domestic abuse had no statistically significant association with level of medication adherence. With the findings of this study, it can be concluded that women with mental illness face considerable level of domestic abuse and they have a higher capacity to tolerate distress. Severity of domestic abuse is inversely associated with their perceived ability to tolerate emotional distress; and positively associated with the level of attention being absorbed by negative emotions. The study was constrained by its cross-sectional design and small sample size, and further replication of data is needed with bigger sample size and control group.
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PMID:Severity of domestic abuse and its relationship with distress tolerance and medication adherence in women with mental illness in South India. 3111 52