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

Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
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PMID:Copy number variations of chromosome 16p13.1 region associated with schizophrenia. 1978 61

The neurobiological basis of attention-deficit hyperactivity disorder (ADHD) in tuberous sclerosis complex is still largely unknown. Cortical tubers may disrupt several brain networks that control different types of attention. Frontal lobe dysfunction due to seizures or epileptiform electroencephalographic discharges may perturb the development of brain systems that underpin attentional and hyperactive functions during a critical early stage of brain maturation. Comorbidity of attention-deficit hyperactivity disorder (ADHD) with mental retardation and autism spectrum disorders is frequent in children with tuberous sclerosis. Attention-deficit hyperactivity disorder (ADHD) may also reflect a direct effect of the abnormal genetic program. Treatment of children with tuberous sclerosis complex with combined symptoms of attention-deficit hyperactivity disorder (ADHD) and epilepsy may represent a challenge for clinicians, because antiepileptic therapy and drugs used to treat attention-deficit hyperactivity disorder (ADHD) may aggravate the clinical picture of each other.
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PMID:Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex. 1980 24

Among dietary factors, learning and behavior are influenced not only by nutrients, but also by exposure to toxic food contaminants such as mercury that can disrupt metabolic processes and alter neuronal plasticity. Neurons lacking in plasticity are a factor in neurodevelopmental disorders such as autism and mental retardation. Essential nutrients help maintain normal neuronal plasticity. Nutritional deficiencies, including deficiencies in the long chain polyunsaturated fatty acids eicosapentaenoic acid and docosahexaenoic acid, the amino acid methionine, and the trace minerals zinc and selenium, have been shown to influence neuronal function and produce defects in neuronal plasticity, as well as impact behavior in children with attention deficit hyperactivity disorder. Nutritional deficiencies and mercury exposure have been shown to alter neuronal function and increase oxidative stress among children with autism. These dietary factors may be directly related to the development of behavior disorders and learning disabilities. Mercury, either individually or in concert with other factors, may be harmful if ingested in above average amounts or by sensitive individuals. High fructose corn syrup has been shown to contain trace amounts of mercury as a result of some manufacturing processes, and its consumption can also lead to zinc loss. Consumption of certain artificial food color additives has also been shown to lead to zinc deficiency. Dietary zinc is essential for maintaining the metabolic processes required for mercury elimination. Since high fructose corn syrup and artificial food color additives are common ingredients in many foodstuffs, their consumption should be considered in those individuals with nutritional deficits such as zinc deficiency or who are allergic or sensitive to the effects of mercury or unable to effectively metabolize and eliminate it from the body.
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PMID:Mercury exposure, nutritional deficiencies and metabolic disruptions may affect learning in children. 2941 37

The primary goal of this study was to assess the association between the full birth weight distribution and prevalence of specific developmental disabilities and related measures of health and special education services utilization in US children. Using data from the 1997-2005 National Health Interview Survey (NHIS) Sample Child Core, we identified 87,578 children 3-17 years of age with parent-reported information on birth weight. We estimated the prevalences of DDs (attention-deficit/hyperactivity disorder [ADHD], autism, cerebral palsy, hearing impairment, learning disability without mental retardation, mental retardation, seizures, stuttering/stammering, and other developmental delay) and several indicators of health services utilization within a range of birth weight categories. We calculated odds ratios adjusted for demographic factors (AOR). We observed trends of decreasing disability/indicator prevalence with increasing birth weight up to a plateau. Although associations were strongest for very low birth weight, children with "normal" birth weights of 2,500-2,999 g were more likely than those with birth weights of 3,500-3,999 g to have mental retardation (AOR 1.9 [95% CI: 1.4-2.6]), cerebral palsy (AOR 2.4 [95% CI: 1.5-3.8]), learning disability without mental retardation (AOR 1.2 [95% CI: 1.1-1.4]), ADHD (AOR 1.2 [95% CI: 1.1-1.3]), and other developmental delay (AOR 1.3 [95% CI: 1.1-1.5]) and to receive special education services (AOR 1.3 [95% CI: 1.2-1.5]). While much research has focused on the health and developmental outcomes of low and very low birth weight children, these findings suggest that additional study of a continuous range of birth weights may be warranted.
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PMID:Birth weight and health and developmental outcomes in US children, 1997-2005. 1990 44

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

Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were tested using Wechsler Intelligence Scales for Children-Revised (WISC-R), Judgment of Line Orientation, and Bender Visual-Motor Gestalt tests. Comparison groups were unaffected siblings of NF1 patients (n=20), children with attention deficit and hyperactivity disorder (ADHD, n=40), and normal children (n=40). No difference was found between familial or sporadic NF1 cases. Seventeen/58 (29%) of NF1 cases had a full scale IQ<70. The subgroup of NF1 patients with full scale IQ>80 (n=27) scored lower in WISC-R subtests measuring visual perception when compared to a healthy control group of similar intelligence, and lower in arithmetic but better in Bender-Gestalt and Judgment of Line Orientation tests when compared to an ADHD group of similar intelligence. These results indicate a high prevalence of mental retardation in a clinical NF1 series. NF1 patients who have normal intelligence may have impaired visual perception, but their visual perceptual problems are less than in ADHD. The tendency of unaffected siblings of NF1 patients to have mildly but consistently low test scores compared to healthy controls needs to be studied further for underlying genetic or environmental factors.
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PMID:Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings. 2019 90

According to the DSM-IV, Mental Retardation is significantly sub-average general intellectual functioning accompanied by significant limitations in adaptive functioning in at least two of the following skill areas: communication, self-care, home living, social/interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health and safety. In pilot work, we have seen positive clinical effects of Neurofeedback (NF) applied to children with Trisomy 21 (Down Syndrome) and other forms of mental retardation. Given that many clinicians use NF in Attention Deficit Hyperactivity Disorder and Generalized Learning Disability cases, we studied the outcomes of a clinical case series using Quantitative EEG (QEEG) guided NF in the treatment of mental retardation. All 23 subjects received NF training. The QEEG data for most subjects had increased theta, alpha, and coherence abnormalities. A few showed increased delta over the cortex. Some of the subjects were very poor in reading and some had illegible handwriting, and most subjects had academic failures, impulsive behavior, and very poor attention, concentration, memory problems, and social skills. This case series shows the impact of QEEG-guided NF training on these clients' clinical outcomes. Fourteen out of 23 subjects formerly took medications without any improvement. Twenty-three subjects ranging from 7-16 years old attending private learning centers were previously diagnosed with mental retardation (severity of degree: from moderate to mild) at various university hospitals. Evaluation measures included QEEG analysis, WISC-R (Wechsler Intelligence Scale for Children-Revised) IQ test, TOVA (Test of Variables of Attention) test, and DPC-P (Developmental Behaviour Checklist) were filled out by the parents. NF trainings were performed by Lexicor Biolex software. NX-Link was the commercial software reference database used to target the treatment protocols, along with the clinical judgment of the first author. QEEG signals were sampled at 128 samples per second per channel and electrodes were placed according to the International 10-20 system. Between 80 and 160 NF training sessions were completed, depending on the case. None of the subjects received any special education during NF treatment. Two subjects with the etiology of epilepsy were taking medication, and the other 21 subjects were medication-free at the baseline. Twenty-two out of 23 patients who received NF training showed clinical improvement according to the DPC-P with QEEG reports. Nineteen out of 23 patients showed significant improvement on the WISC-R, and the TOVA. For the WISC-R test, 2 showed decline on total IQ due to the decline on some of the subtests, 2 showed no improvement on total IQ although improvement was seen on some of the subtests, however even these cases showed improvement on QEEG and DPC-P. This study provides the first evidence for positive effects of NF treatment in mental retardation. The results of this study encourage further research.
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PMID:Post WISC-R and TOVA improvement with QEEG guided neurofeedback training in mentally retarded: a clinical case series of behavioral problems. 2030 14

Calcium as a molecule plays a significant role in the body, especially in the central nervous system. In its free form, it has been classified as a cofactor, second messenger, and signaling molecule, and, when bound, forms a protein and coenzyme. This is secondary to the critical, and at times, very sensitive reactions associated with it. Calcium homeostasis, especially in the context of the central nervous system, may have crucial implications in many neuropsychiatric conditions. The hypothesis presented will explore the link between the blood-brain barrier (BBB) and calcium homeostasis (CH) as it is a complex, physiological process. Absence of organic deficits associated with conditions, such as pervasive developmental disorder (PDD), autism spectrum disorders (ASD), mental retardation (MR), and attention deficit hyperactivity disorder (ADHD), in addition to other chronic psychiatric disorders, builds a more compelling case to explore CH in context of the BBB.
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PMID:Blood brain barrier: the role of calcium homeostasis. 2043 65

In the International Classification of Sleep Disorders 2nd Edition (ICSD-2), sleep related rhythmic movement disorder (RMD) is classified as a disorder characterized by rhythmic movements of large muscle groups in different parts of the body. These are repetitive, stereotyped, rhythmic motor behaviors that occur predominantly during drowsiness or sleep,and are typically seen in infants and children. Episodes often occur at sleep onset, at any time during the night, and during quiet wakeful activities at a frequency of 0.5-2 sec), lasting <15 min. The prevalence is high in infants (59%), dropping to 5% at the age of 5 years. When persisting to older childhood or beyond, association with mental retardation, autism, or other significant pathology is reported. Few cases in adults of normal intelligence have been reported in the literature. There is a strong association with attention deficit hyperactivity disorder, suggesting a similar pathogenetic mechanism. There is also one adult case report occurring during strictly REM sleep. Mayer et al reported 24 subjects with RMD that persisted into adolescence and adulthood. Twenty of the subjects were adults, and 16 of them had the condition since childhood. Of these 20, 16 had no other sleep disorders (but 2 had a family history of RMD), and 4 had obstructive sleep apnea. This was the first ever report of familial RMD.
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PMID:A multigenerational family with persistent sleep related rhythmic movement disorder (RMD) and insomnia. 2046 26

The pre-school period is one in which behavior disorders may develop, especially if the child has certain constitutional faults and especially if the parents react unsuitably. Temperamental characteristics are discussed and the cluster of characteristics of the difficult child described in some detail to illustrate how trouble can be avoided if the parents can adapt healthily to the challenge of such a child. The concept of the emotionally disturbed child is examined. The specific syndromes are reviewed with emphasis on mental retardation, the hyperkinetic syndrome and childhood psychosis. Reactive behavior disorders, neurosis in childhood, special symptoms, excessive emotionality and depression are discussed.In management, the family doctor can fortunately be most effective, but only if he can spare the time and patience, concentrate on listening well, take a good history and give practical advice in which he believes. Medication is of secondary importance. If the community lacks facilities need to help these children further, then the physician can add a strong voice to those seeking them and can often provide the needed informed leadership. Some suggestions for further reading are made and are found in the footnotes.
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PMID:Behavior disorders in the pre-school child. 2046 69


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