Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine the prevalence of autism spectrum disorders (ASDs) in children with SLOS. Fourteen children, 3-16 years old, were evaluated using three different methods to document autistic symptoms: (a) parent interview, (b) direct observation, and (c) a behavior checklist. Blood sterols were also measured at regular intervals. Each subject was determined to have Autistic Disorder, Pervasive Developmental Disorder, not otherwise specified (PDD NOS), or no diagnosis on the autism spectrum, based on DSM-IV criteria. Correlations among variables were calculated, and blood sterol levels were compared between diagnostic groups. Approximately three-fourths of the children with SLOS (71-86% depending on the evaluation method) had an ASD, about 50% diagnosed with Autistic Disorder and the rest with PDD NOS. The children's baseline cholesterol, 7-dehydrocholesterol (7-DHC), and 8-dehydrocholesterol (8-DHC) levels, and cholesterol levels following supplementation did not correlate with the presence or severity of autistic symptoms. These results suggest that most children with SLOS have some variant of autism. SLOS appears to have the most consistent relationship with autism of any single gene disorder. Therefore, a link between cholesterol metabolism and autism is suggested. With further study, these findings, together with knowledge of the genetic and biochemical defects in SLOS, will likely provide valuable insights into the causes of autism in general.
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PMID:The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 1676 Dec 97

In ADHD, impaired interpersonal relationships have been documented. They have been hypothesized to be secondary to impairment of receptive nonverbal language. Recognition of emotional facial expressions is an important aspect of receptive nonverbal language, and it has been demonstrated to be central to organization of emotional and social behavior. This study investigated the identification of facial expression of four emotions (joy, anger, disgust, and sadness) in a group of 30 children aged 7-12 years who met the DSM-IV criteria for ADHD disorder of the predominantly hyperactive-impulsive type and have no comorbid mental retardation, specific learning difficulties, developmental coordination disorder, pervasive developmental disorders, conduct disorder, bipolar disorder, or substance abuse, and in 30 matched unimpaired control children. The test used includes 16 validated photographs depicting these emotions in varying intensities constructed by morphing. Children with ADHD exhibited a general deficit in decoding emotional facial expressions, with specific deficit in identifying anger and sadness. Self-rating of the task difficulty revealed lack of awareness of decoding errors in the ADHD group as compared with control subjects. Within the ADHD group, there was a significant correlation between interpersonal problems and emotional facial expression decoding impairment, which was more marked for anger expressions. These results suggest suboptimal nonverbal decoding abilities in ADHD that may have important implications for therapy.
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PMID:Recognition of emotional facial expressions in attention-deficit hyperactivity disorder. 1687 3

Dopamine D4 receptor (DRD4) gene is implicated in the pathogenesis of attention deficit hyperactivity disorder (ADHD). The 7-repeat allele of the variable-number-of-tandem-repeat (VNTR) polymorphism in exon 3 has been reported to be associated with ADHD. However, studies in Chinese populations have yielded conflicting results. We therefore perform another study to investigate the association between ADHD and DRD4 gene polymorphism in Chinese children in Hong Kong. In this prospective family-based and case-control study during January-June 2004, we recruited consecutive Chinese children diagnosed with ADHD by DSM-IV and sex-matched controls admitted for acute upper respiratory infection, excluding those with perinatal brain insults, mental retardation, or neurological deficits. VNTR polymorphisms of the DRD4 gene were determined by standard PCR followed by agarose gel electrophoresis. Sixty-four ADHD cases (52 boys, 12 girls), their family members, and 64 normal controls were recruited. The 4-repeat allele (84.4%) and the 4/4-repeat genotype (70.3%) were the most prevalent. Both family-based and case-control analyses showed no association between ADHD and DRD4 gene polymorphisms (transmission dysequilibrium test (TDT): P = 0.91 and P = 0.33 for the 7-repeat and 4-repeat alleles, respectively; OR for the 7-repeat allele = 2.01 (95% CI 0.07-60.4, P = 0.66), OR for the 4-repeat allele = 1.51 (95% CI 0.80-2.85, P = 0.2)). However, the longer repeat alleles had a positive trend association with ADHD (P = 0.01) in the case-control analysis. We concluded that ADHD is not associated with a particular VNTR polymorphism of the DRD4 gene. Further studies are needed to clarify the role of repeat length of the VNTR region of the DRD4 gene in the pathogenesis of ADHD.
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PMID:Exon 3 polymorphisms of dopamine D4 receptor (DRD4) gene and attention deficit hyperactivity disorder in Chinese children. 1691 40

Asperger syndrome (AS) and autistic disorder are two subtypes of pervasive developmental disorders (PDD), but there has been considerable debate over whether AS and autistic disorder without mental retardation (IQ > or = 70), called high-functioning autism (HFA), are distinct conditions or not. The aim of the present paper was to clarify this issue through a comparison of cognitive function and autistic symptom profiles. Based on the DSM-IV and ICD-10 definitions of language acquisition, 36 age- and IQ-balanced subjects with AS (mean age, 12.8 years; mean full-scale IQ, 98.3) were compared with 37 subjects with HFA (mean age, 12.6 years; mean full-scale IQ, 94.6) on the Japanese version of the Wechsler Intelligence Scales and the Childhood Autism Rating Scale-Tokyo Version (CARS-TV). Compared with the HFA subjects, the AS subjects scored significantly higher on Verbal IQ, Vocabulary, and Comprehension, but scored significantly lower on Coding. Although the total CARS-TV score did not differ significantly between the two groups, AS subjects scored significantly lower (i.e. less abnormal) on Verbal communication and Non-verbal communication than did the HFA subjects. A history of normal language acquisition in early childhood could predict his/her better verbal ability in mid-childhood or later. Autistic cognitive characteristics shared by both AS and HFA subjects appear to support the validity of the current diagnostic classification of PDD.
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PMID:Cognitive and symptom profiles in Asperger's syndrome and high-functioning autism. 1723 46

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

Fecal incontinence is a common disorder in children. Many children with fecal incontinence have psychosocial co-morbidity. In this study, the effect of psychosocial co-morbidity on the treatment outcome of children with fecal incontinence was evaluated. One hundred and fifty children with fecal incontinence were treated in a multidisciplinary program. All children had been treated unsuccessfully for at least one year before entering the program. The treatment consisted of laxative treatment, psychosocial interventions, and biofeedback training. Psychosocial co-morbidity was classified according to the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV). One hundred and forty-one children were completely analyzed (102 boys, mean age 9.6 (range 6.5-16.5) years). Of these, 31 (22%) children had fecal incontinence without constipation and 110 (78%) children had fecal incontinence associated with constipation. In 95% of children, at least one psychosocial co-morbidity was present. Treatment was successful at 12 months in 69% of patients. Treatment was less successful in children with attention deficit hyperactivity disorder (ADHD), in children with parent-child relational problems, and in mentally retarded children. The results indicate that the early assessment and treatment of psychosocial co-morbidity might improve treatment response in children with fecal incontinence. Children with fecal incontinence are treated less successfully in the first year if they have ADHD, parent-child relational problems, or mental retardation. Psychosocial evaluation and the early assessment and treatment of psychosocial co-morbidity is indicated in order to improve response rate. Family counseling--aimed at improving parent-child relations--should be an integral part of a multidisciplinary treatment program for fecal incontinence.
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PMID:Psychosocial co-morbidity affects treatment outcome in children with fecal incontinence. 1795 65

Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders. We sought to determine the relevance of CNVs to the aetiology of schizophrenia (SZ). Whole-genome, high-resolution, tiling path BAC array comparative genomic hybridization (array CGH) was employed to test DNA from 93 individuals with DSM-IV SZ. Common DNA copy number changes that are unlikely to be directly pathogenic in SZ were filtered out by comparison to a reference dataset of 372 control individuals analyzed in our laboratory, and a screen against the Database of Genomic Variants. The remaining aberrations were validated with Affymetrix 250K SNP arrays or 244K Agilent oligo-arrays and tested for inheritance from the parents. A total of 13 aberrations satisfied our criteria. Two of them are very likely to be pathogenic. The first one is a deletion at 2p16.3 that was present in an affected sibling and disrupts NRXN1. The second one is a de novo duplication at 15q13.1 spanning APBA2. The proteins of these two genes interact directly and play a role in synaptic development and function. Both genes have been affected by CNVs in patients with autism and mental retardation, but neither has been previously implicated in SZ.
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PMID:Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. 1798 66

The study evaluated the prevalence of DSM-IV-TR-defined psychiatric disorders in adolescents with mental retardation, with a focus on obsessive-compulsive disorder (OCD), for which data at present are sparse. Eighty-seven adolescents with mild to moderate mental retardation attending the Israeli special-education system were screened for psychiatric disorders in general and obsessive-compulsive symptoms in particular. Sixty-one percent had at least one psychiatric disorder. Of the 13 participants receiving antipsychotic medication, none had an underlying psychotic disorder and most had anxiety or depressive disorders. OCD was detected in 11% of participants and was characterized by high rates of psychiatric comorbidities. The severity of autistic symptoms predicted 39% of the variance in the severity of OCD symptoms. Adolescents with mild to moderate mental retardation have high rates of psychiatric morbidities that are often inappropriately treated. OCD is prevalent in this population and is strongly associated with autistic symptoms. Further studies are required in adolescents with mental retardation to better delineate psychiatric morbidities and their appropriate treatment in this at-risk population.
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PMID:Psychiatric morbidity with focus on obsessive-compulsive disorder in an Israeli cohort of adolescents with mild to moderate mental retardation. 1835 Dec 87

This study examines the possible relationship existing between the HLA-DR gene and attention deficit hyperactivity disorder (ADHD) and/or mental retardation (MR). The diagnosis of ADHD and mental retardation were established through clinical interviews with the parents, children and teachers, according to the criteria in DSM-IV. HLA-DRB1 genotyping was performed both by polymerase chain reaction-sequence specific primers (PCR-SSP) and by sequence based typing (SBT) in a cohort of 81 affected children and a sample of 100 healthy controls. Here, we report a positive association of HLA-DR4 with ADHD but not with MR. The study adds confirmation to the role of the HLA-DRB1 in the etiology of some types of childhood neuropsychiatric illnesses.
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PMID:Investigation on the possible relationship existing between the HLA-DR gene and attention deficit hyperactivity disorder and/or mental retardation. 1914 84

We experienced two cases of complicated pseudoseizure, whose diagnosis and treatment were based on Kretschmer's concept of "primitive hysteria". The first case was a 16-year-old boy who experienced a convulsion before a swimming class which he disliked. He was immediately brought to the emergency department of our hospital. Initially, he was treated as a true epileptic patient, and his convulsion continued for hours. We monitored the patient by video, which aided in making a precise diagnosis. He also showed a pain disorder. The second case was a 16-year-old girl who developed hyperventilation and convulsion during her graduation ceremony. The characteristics of her convulsion were similar to the first case. Four days after her admission to our hospital, we concluded that her symptoms were a part of primitive hysteria. After her discharge, she experienced some intermittent episodes of convulsion. There was also a possibility of sexual abuse from her father. Both patients had a family history of mental retardation and an unstable home life, as well as similar symptoms. Even in a modern general hospital, there is a lack of understanding about pseudoseizure, thus, medication may be unnecessary for undiagnosed patients. DSM-IV-TR as well as ICD-10 criteria do not mention anything about primitive hysteria. However, we recommend revitalization of this concept because it is a useful, appropriate, and necessary description of pseudoseizure with complications.
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PMID:[Two adolescent cases of pseudoseizure with mental retardation]. 1937 70


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