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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Behavioral side effects associated with clonazepam may include agitation, aggression, hyperactivity, irritability, property destruction, and temper tantrums. These side effects may be inadvertently confused with other behavioral or psychiatric conditions, especially if exacerbation of existing challenging behavior occurs. This report describes an individual with mental retardation who experienced behavioral exacerbation associated with clonazepam prescribed at 2 mg/day (0.02 mg/kg/day) to treat aggression, self-injurious behavior, property destruction, and screaming, which was measured with a 15-minute partial interval recording measurement method. When clonazepam was reduced and discontinued, these behaviors significantly decreased from 3.1% of intervals (95% confidence band = 1.6% to 4.6%) to 0.1% of intervals (95% confidence band = 0% to 0.1%). Indicators suggesting review by appropriate medical personnel for possible clonazepam behavioral side effects are provided.
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PMID:Brief report: clonazepam behavioral side effects with an individual with mental retardation. 1290 37

Mutations in the coding region of the angiotensin II type 2 receptor gene (AGTR2) were recently identified to cause X-linked recessive mental retardation. We report a mutation screening of the AGTR2 gene in 57 Finnish male patients with non-syndromic mental retardation. We identified two mutations, a 62G-->T transversion, which leads to a substitution of glycine for valine (G21V) and a 157A-->T transversion, which causes a substitution of isoleucine for phenylalanine (I53F). The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures, restlessness, hyperactivity, and disturbed development of speech.
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PMID:Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. 1472 54

Aggression has become a problem of our everyday life; every psychiatrist meets aggressive patients in his practice almost daily. Aggression represents a special problem in the case of institutionalized, mentally retarded (severe and moderate) patients, when it is associated with agitation, deficit of critical functions, impulsiveness, mood disorders. The nursing staff of these institutions is often overworked; the affective outbursts and aggressive behavior of mentally retarded patients may provoke a hostile attitude on the part of the nursing staff towards the patients. In the case of mentally retarded patients, unpredictable events may occur at any time. The structural background of mental retardation, the function of the affected cerebral structures, is not completely clarified. It was found in several studies that risperidone is effective in the treatment of agitation and aggressive behavior; the incidence of side effects is much lower than in the case of typical antipsychotics. We started the treatment with risperidone of 60 mentally retarded patients; we evaluated the therapeutic outcome after a three-month follow-up period using a rating scale made specially for this purpose. An attempt was made to compare the therapeutic results obtained in the risperidone group with the condition of patients receiving typical antipsychotics. It was found that, in the case of several items (aggression, agitation, deficit of critical functions, mood disorders, sleep disturbances, involvement in therapeutic activities), risperidone was significantly more effective than typical antipsychotics, and the incidence of extrapyramidal symptoms and other adverse events was much lower. It was hardly necessary to impose restraints in the risperidone group. In the care of mentally retarded patients, the use of risperidone has many long-term advantages, and hence it represents an effective alternative to typical antipsychotics.
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PMID:[Experience with Risperidone in the treatment of institutionalized mentally retarded patients, with special reference to treatment of aggressive states]. 1512 10

A quantitative method for typing psychopathology of youngsters with mental retardation was assessed. Parents of 601 students in special educational placements rated them with the ABC. The sample was randomly divided into two subgroups. We used Ward's hierarchical method of cluster analysis and derived eight clusters in Subsample 1 and satisfactory agreement, kappa =.64, for the eight-cluster solution in Subsample 2. Clusters were: Problem Free, Within Normal Limits, Conduct Problem, Shy/Inactive, Hyperactive, Social Withdrawal With Agitation, Undifferentiated Behavior Disturbance, and Autistic-Like Behavior. We also used demographic (age, gender, IQ, physical handicaps) and clinical variables (DSM diagnoses and target behaviors) extracted from school records of 228 participants to appraise validity of the empirically derived clusters. The external data provided modest to strong support for all except one cluster (Social Withdrawal With Agitation).
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PMID:Empirical classification of behavioral and psychiatric problems in children and adolescents with mental retardation. 1547 11

We report on eight children who underwent prolonged invasive video-EEG recording (IC-EEG) for intractable frontal lobe epilepsy and whose seizures consisted of behaviour changes. Seizures were recorded on a BMSI computer with 128 channels connected to the Gotman software of a stellate system; their identification was made both clinically and by automatic detection of paroxysmal electrical events. Behavioural epileptic seizures (BES) consisted of various clinical signs comprising mood change, sudden agitation, unexpected quietness, and subtle change of awareness or awakening. In 2 patients, seizures consisted in repetitive movements that we referred to as epileptic stereotypes. BES came from the prefrontal areas of the brain. Most of them were overlooked or misdiagnosed as behavioural manifestations, especially in children with mental deficiency and autistic features. Given the improvement of behaviour and mental functions following surgery, we assume that BES may contribute to generate mental and behavioural dysfunction.
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PMID:Behavioural epileptic seizures: a clinical and intracranial EEG study in 8 children with frontal lobe epilepsy. 1562 41

Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behaviour. We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know.
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PMID:Polydactyly in a boy with Smith-Magenis syndrome. 1615 20

Deficiency of dihydropyrimidine dehydrogenase (DPD) is a rare inborn error of pyrimidine metabolism. To date, only about 50 patients are known worldwide. The clinical picture is varied and is not yet fully described. Most patients are diagnosed at the age of 1-3 years. We present a patient diagnosed 8 weeks postpartum. The female patient presented in the first 3 days after birth with agitation, choking, and vomiting. Six weeks later, the patient presented again with vomiting and insufficient weight gain. Metabolic screening of urine showed a strongly increased excretion of uracil and thymine, with no other abnormalities. This suggested a deficiency of DPD which was confirmed by enzyme analysis in peripheral blood mononucleair (PBM) cells (patient: activity <0.01 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h). The patient was homozygous for the IVS14+1G>A mutation.MRI of the brain showed some cerebral atrophy; myelinization appeared normal. Many patients with DPD-deficiency suffer from convulsions and mental retardation, some show microcephaly, feeding difficulties, autism, and hypertonia. Our patient showed feeding difficulties and in the second half-year she developed slight motor retardation and generalized hypotonia. Further observation of the development of the patient may shed more light on the relationship between clinical symptoms and DPD deficiency. DPD deficiency may present in newborns with vomiting and hypotonia as the main symptoms.
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PMID:A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. 1706 71

Neuroleptic malignant syndrome (NMS) is a life-threatening complication of anti-psychotic treatment and can occur any time during the course of treatment. Since NMS can occur in any subject treated with anti-psychotic drugs, causing senously adverse side effects, prevention of NMS is one of the most important issues in clinical psychiatry. Although therapeutic guidelines for NMS have been proposed and gradually put in place, the pathogenesis has not been fully elucidated. Prevention of NMS consists of three approaches: removal of pathogenetic factors, understanding of initial symptoms and consideration of the administration of preventive drugs. Risk factors for NMS are inherited factors, individual factors and environmental factors. The overlapping of these factors might lead to fulminant NMS. These risk factors such as environmental factors are enumerated in DSM-IV. We meta-analyzed the case-control studies of the risk factors for NMS, because the evaluation of each risk factor has not been studied yet. The results were as follows: mental retardation, psychiatric manifestations such as agitation and excitement as individual factors. High dosage administration, rapid increase and parenteral administration of antipsychotic drugs are the drug factors. It is hopeful to give preventive care, such as precautionary measurement of autonomic dysfunction, and treatment to these groups at high risk for NMS.
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PMID:[Studies of risk factors and preventive care for neuroleptic malignant syndrome]. 1724 Aug 42

Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic features are relatively mild and patients with this disorder can reach late adulthood. It is the most common subtype of MPS in the Netherlands and probably underdiagnosed in adult persons with mental retardation (MR). In order to increase knowledge on the adult phenotype and natural history in Sanfilippo type B, we present the clinical data of 20 patients with this disorder. Sixteen of them were followed for one to three decades. Six died between 28 and 69 years of age, mainly from pneumonia and cachexia; the surviving patients were 18-63 years old. Apart from the youngest, they had lost mobility at 36-68 years. Most had developed physical problems, in particular in the 4th-6th decade of life: cardiac disease (cardiomyopathy, atrial fibrillations), arthritis, skin blistering, swallowing difficulties requiring feeding by a gastrostomy tube, and seizures. The course of the disease was dominated in most of them by challenging behavioral problems with restlessness, extreme screaming and hitting, difficult to prevent or to treat pharmaceutically. Even in absence of knowledge of the history of an elderly patient with MR, the presence of behavioral problems should prompt metabolic investigation for MPS.
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PMID:Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? 1764 47

We report clinical, neuropsychological and molecular findings in affected males and carrier females in the fourth reported family with mental retardation caused by mutation in the PAK3 gene (Xq22.3-q23), W446S. In contrast to previous reports, carrier females manifested learning problems and mild mental disability. Skewed X-inactivation was observed here for the first time in carriers of PAK3 mutation. Neuropsychological tests in affected males and carrier females suggested a common neuropsychological profile of impaired spatial cognitive abilities and defects in attentional and executive functions. The five affected males examined herein had a proportionally small head size or microcephaly, large ears, oral motor hypotonia with drooling and inarticulate speech and short attention span, anxiety, restlessness, and aggression. Brain imaging showed signs of chronic non-progressive hydrocephalus in one patient who manifested psychosis and fluctuant gait deterioration, while two other patients showed no abnormalities. EEG recordings were available from four affected males and one carrier female, and all showed similar posterior slow wave activity without epileptic discharges. Only one affected male in the family suffered from epilepsy. When comparing the affected males in this family and the three previously reported families with mental retardation due to a PAK3 mutation, similarities in their characteristics were small head size or microcephaly, large ears, speech defects, behavioral abnormalities, and psychiatric disease.
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PMID:PAK3 related mental disability: further characterization of the phenotype. 1785 71


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