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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This article describes a group of 10 hospitalized, mentally retarded patients with rapid cycling affective disorders, including details of demography, pattern of illness, and response to an open trial of treatment with lithium and/or carbamazepine. Family histories of these patients revealed high rates of mental illness, including affective disorder and mental retardation. Men had an earlier onset of affective illness and rapid cycling than did women. Half of the patients showed partial or complete improvement on lithium alone or in combination with carbamazepine; those who responded to the combined treatment had more episodes of affective illness per year than those who did not. Rates of response to treatment and some clinical characteristics of these patients were similar to those of non-mentally retarded rapid cycling patients.
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PMID:Rapid cycling affective disorders in the mentally retarded. 250 Sep 90

Thirty-six chronically psychotic patients (nine men and 27 women, mean age 56.7 +/- S.D. 13.4 years) were found to have elevated thyroid stimulating hormone (TSH) levels during review of thyroid function screening tests of 1150 patients over a 15 month period in a 700 bed state mental hospital. This study population of 36 patients was more likely to be female and older than the general hospital population. The spectrum and frequency of psychiatric diagnoses included dementia (3); schizoaffective disorder (12); bipolar disorder (6); schizophrenic disorder (4); organic affective disorder (7); major depression (3); and mental retardation (1). Only nine of these 36 patients failed to receive the goitrogens lithium (LI), carbamazepine (CBZ) and/or phenytoin (PTN) and five of those nine patients had a history of thyroid disease. Sex did not predict age, thyroxine (T4) level, triiodothyronine (T3) uptake, or TSH. The distribution of psychiatric diagnoses were the same for both sexes. Expectedly, there was an inverse relationship between TSH and T4 and T3 uptake. Using T4 to separate grades 1 and 2 hypothyroidism revealed that six (17%) patients had grade 1 disease. Men were more likely to have a seizure disorder and receive LI, CBZ, and PTN. Women were more likely to have a history of thyroid disease. The goitrogenic effects of LI + CBZ seemed additive compared with patients receiving LI alone. While T4, T3 uptake, and LI levels were the same for the two groups, patients receiving LI + CBZ had higher TSH values (p = 0.028) than did patients receiving LI alone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Grades 1 and 2 hypothyroidism in a state mental hospital: risk factors and clinical findings. 310 44

Gray matter heterotopia are common malformations of cortical development. From a clinical perspective, affected patients are best divided into three groups: subependymal, subcortical, and band heterotopia (also called double cortex). Symptomatic women with subependymal heterotopia typically present with partial epilepsy during the second decade of life; development and neurologic examinations up to that point are typically normal. Symptoms in men with subependymal heterotopia vary, depending on whether they have the X-linked or autosomal form. Men with the X-linked form more commonly have associated CNS and visceral anomalies; their development is typically abnormal. Symptomatic men with the autosomal variety have clinical courses similar to symptomatic women. Both men and women with subcortical heterotopia typically have congenital fixed neurologic deficits and develop partial epilepsy during the second half of the first decade of life. The more extensive the subcortical heterotopia, the greater the deficit; bilateral heterotopia are almost invariably associated with severe developmental delay or mental retardation. In general, band heterotopia are seen exclusively in women; men with a mutation of the related gene (called XLIS or DCX) usually die in utero or have a much more severe brain anomaly. Symptoms in affected women vary from normal to severe developmental delay or mental retardation; the severity of the syndrome is related to the thickness of the band of arrested neurons. Nearly all affected patients that come to medical attention have epilepsy, with partial complex and atypical absence epilepsy being the most common syndromes. Some of the more severely affected patients develop attacks.
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PMID:Gray matter heterotopia. 1118 88

A reduced expression of the insulin resistance syndrome, a common neuroendocrine disorder underlying atherosclerosis, may play a role in reduced atherosclerosis in adults with Down syndrome. We compared selected components of the insulin resistance syndrome between 75 adults with Down syndrome and 70 with mental retardation due to other causes. After adjusting for age differences, residence, cigarette smoking, and medication use, women with Down syndrome had lower fasting plasma glucose and lower systolic blood pressure than comparison women. Men with Down syndrome had lower systolic and diastolic blood pressure than comparison men. Results suggest that women with Down syndrome may be less likely to express the insulin resistance syndrome, and men and women with Down syndrome may possess fewer atherosclerotic risk factors than the comparison groups.
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PMID:Differences in cardiovascular disease risk between nondiabetic adults with mental retardation with and without Down syndrome. 1196 33

Darier disease (DD) is an uncommon genetic skin disorder, which begins in adolescence or early adult life. This disease is observed more often among men and where the disease course is more severe. Many dermatologists observe in patients with DD neuropsychiatric disorders: psychosis, depression and rare mental retardation. We present familial DD in a mother and her two sons. Men demonstrated a typical onset and course of the disease. The onset of the disease in the 52nd year of age and the skin lesions (more characteristic for the Lyell disease) which occurred suddenly in women, were atypical. Besides skin lesions, mental retardation with a various degree of intensity was observed in all three patients.
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PMID:[Familial Darier disease and mental retardation in mother and her two sons]. 1271 28

Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances associated with clinical syndromes, but also a large number of copy number variations (CNVs), which have complicated the interpretation of results. We studied 100 consecutive patients with unexplained mental retardation and a normal karyotype using several platforms of CGH arrays. A genomewide array with 44,290 oligonucleotide probes (OaCGH44K) detected imbalances in 15% of cases studied with sizes ranged from 459 kb to 19 Mb while revealing a small number of CNVs (0.72/individual). Another platform with approximately 240,000 oligonucleotide probes (OaCGH244K) revealed a large number of CNVs (20/individual) in selected cases and their normal parents. We used a comprehensive approach for interpreting the results of aCGH, including consideration of the size, inheritance and gene content of CNVs, and consultation with an online Database of Genomic Variants (DGV) and Online Mendelian Inheritance in Men (OMIM) for information on the genes involved. Our study suggests that genomewide oligonucleotide arrays such as the OaCGH44K platform can be used as a powerful diagnostic tool for detection of genomic imbalances associated with unexplained mental retardation or syndromic autism spectrum disorders. It is interesting to note that a small number of common variants were revealed by OaCGH244K in some study subjects but not in their parents and that some inherited CNVs had altered breakpoints. Further investigations on these alterations may provide useful information for understanding the mechanism of CNVs.
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PMID:Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. 1762 39

Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit hyperactivity disorder (ADHD), anxiety, depression] significantly more often than non-carriers. However, after adjusting for covariates, these increased rates were not statistically significant. Additional follow-up analyses examined the consequence of ovarian dysfunction as a cause of co-occurring conditions. Women with an indication of ovarian insufficiency (i.e. irregular cycles) reported higher rates of thyroid problems and depression/anxiety. Because only women, not men, reported these conditions more often, the relationship between FXPOI and hormone irregularities in women should be explored for a potential link with the increase in the reported medical conditions.
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PMID:Co-occurring diagnoses among FMR1 premutation allele carriers. 2005 84

Men with Down syndrome are considered as infertile although the causes of infertility are not known in detail yet. Although this constitutes a general rule there are three confirmed cases of parenting by fathers with Down syndrome. Many investigators have addressed the causes of infertility and their studies indicate that the causes may be hormonal deficits, morphological alterations of the gonads, abnormal spermatogenesis, psychological and social factors related to the mental retardation. It is obvious that the extra chromosome 21 has a detrimental direct and indirect effect on the reproductive capacity of the affected male patient. But the definite cause of the insufficient and inadequate spermatogenesis remains to be discovered.
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PMID:Causes of infertility in men with Down syndrome. 2180 50

Klinefelter syndrome (KS) remains the most common, yet often undiagnosed, chromosomal aberration in men. Early diagnosis and treatment can improve the health of patients with KS. The aim of this study was to evaluate the inactivation pattern of supernumerary X chromosomes. The secondary aim was to design a reliable and cost-effective molecular test for detection of X chromosome disomy. Methylation-specific polymerase chain reaction (M-PCR), with primers for familial mental retardation (FMR1) and X chromosome inactive-specific transcript (XIST) genes, was used to detect the presence of X chromosome disomy in men. Seventeen fertile males, 12 females, and 35 males with KS (28 with 47,XXY karyotype, and 7 with 47,XXY/46,XY mosaics) were included in the study. Results of the karyotype were compared with the results of semiquantitative M-PCR. Inactivation of X chromosomes was measured by XIST/FMR-1 methylation ratio. Differences in the methylation patterns of FMR1 and XIST genes between 46,XY men and men with X chromosome disomy allowed for rapid detection of the presence of an additional X chromosome, achieving 100% sensitivity and specificity using M-PCR. The methylated:unmethylated FMR1 amplicon ratio allowed the detection of 1 additional X chromosome per 100 normal XY cells (1% of XX/XY mosaicism). In our series, 50% of 47,XXY men showed skewed inactivation of the X chromosome. Men with KS can have incomplete inactivation of supernumerary X chromosomes. M-PCR is a sensitive, specific, fast, and relatively inexpensive test for the diagnosis of X chromosome disomy.
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PMID:Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome in men with Klinefelter syndrome. 2244 64

Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and tumor predisposition. NS was clinically described more than 50 years ago, and disease genes have been identified throughout the last 3 decades, providing a molecular basis to better understand their physiopathology and identify targets for therapeutic strategies. Most of these genes encode proteins belonging to or regulating the so-called RAS/MAPK signaling pathway, so these syndromes have been gathered under the name RASopathies. In this review, we provide a clinical overview of RASopathies and an update on their genetics. We then focus on the functional and pathophysiological effects of RASopathy-causing mutations and discuss therapeutic perspectives and future directions.
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PMID:The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. 2992 99


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