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)

Attention-deficit hyperactivity disorder (ADHD) is a highly heritable, common psychiatric disorder of childhood that probably involves several genes. There are several lines of evidence suggesting that the nicotinic system may be functionally significant in ADHD. First, nicotine promotes the release of dopamine and has been shown to improve attention in adults with ADHD, smokers, and nonsmokers. Second, ADHD is a significant risk factor for early initiation of cigarette smoking in children and maternal cigarette smoking appears to be a risk factor for ADHD. Finally, animal studies in rats and monkeys also suggest that nicotine may be involved in attentional systems and locomotor activity. The nicotinic system has previously been studied in schizophrenia where the neuronal nicotinic acetylcholine receptor alpha 7 subunit gene (CHRNA7) has been implicated in decreased P50 inhibition and attentional disturbances in patients with schizophrenia and in many of their nonschizophrenic relatives. Three known microsatellite markers (D15S165, D15S1043, and D15S1360) near the nicotinic acetylcholine alpha 7 receptor gene, CHRNA7, were studied in 206 ADHD parent-proband trios of children aged 5-16 with ADHD according to DSM-IV criteria. Children with known major medical or psychiatric conditions or mental retardation (IQ < 70) were excluded from the study. Markers D15S165 and D15S1360 were in linkage disequilibrium. The extended Transmission Disequilibrium Test analyses demonstrated no evidence that variation at the microsatellite markers D15S1360, D15S1043, and D15S165 influences susceptibility to ADHD. However, it remains possible that the CHRNA7 gene and other nicotinic system genes may be involved in conferring susceptibility to ADHD.
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PMID:No association between CHRNA7 microsatellite markers and attention-deficit hyperactivity disorder. 1180 15

The purpose of the present study was to clarify the percentage of children with conduct disorder (CD) who also have behavioral and developmental disorders. A survey of comorbidity observed in children with CD, was carried out on 33 subjects from a disciplinary facility for children. Female teachers as the mother were interviewed as regards the subjects' condition using the semistructured interview, and male teachers as the father were interviewed for their psychosocial problems. The subjects underwent the Wechsler Intelligence Scale for Children (WISC)-III and their conditions were diagnosed according to Diagnostic and Statistical Manual of Mental Disorders (4th edn; DSM-IV). Of the 33 children, 27 were diagnosed as having CD. Of the 27 CD children, 18 (67%) were diagnosed as having attention deficit hyperactivity disorder (ADHD), and 19 (70%) had oppositional defiant feature (ODF). Eight children (30%) were diagnosed as having mental retardation and in seven children (26%), the verbal IQ was significantly lower than the performance IQ. Two (7%) were diagnosed as having pervasive developmental disorders (PDD). Of 27 children diagnosed with CD, 23 (85%) had some behavioral and developmental disorders. The classification of these behavioral and developmental disorders into the following three types appeared to be clinically useful: type 1, ADHD and ODF; type 2, low intelligence, especially low verbal intelligence; and type 3, PDD. To understand and treat children with CD, the accurate diagnosis of these underlying behavioral and developmental disorders is indispensable.
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PMID:Behavioral and developmental disorders among conduct disorder. 1248 4

To assess the utility of the Childhood Autism Rating Scale - Tokyo Version (CARS-TV), its total score was compared among 430 children with DSM-IV per subgroup (i.e. autistic disorder (AD), childhood disintegrative disorder (CDD), Asperger's disorder, and pervasive developmental disorders (PDD) not otherwise specified (PDDNOS)). Values of Cronbach's alpha were 0.91 for the PDD group and 0.89 for the non-PDD mental retardation (MR) group, and 0.93 for both groups combined. The total score was significantly higher in PDD (mean = 30.1, SD = 4.5) than in non-PDD MR (mean = 22.9, SD = 3.3), t(503) = 13.7, P< 0.0001. The cut-off to distinguish PDD from non-PDD MR was 25.5/26, with sensitivity, specificity, positive predictive value and negative predictive value of 0.86, 0.83, 0.97 and 0.50, respectively. The total score differed significantly among the four groups, with CDD and AD being significantly higher than both PDDNOS and Asperger's disorder, PDDNOS being significantly higher than Asperger's disorder and no significant difference between CDD and AD. The cut-off to distinguish AD from PDDNOS was 30/30.5, with sensitivity, specificity, positive predictive value and negative predictive value of 0.71, 0.75, 0.77 and 0.69, respectively. CARS-TV seems to be a useful instrument for differentiating between PDD and non-PDD MR and between AD and PDDNOS, although further replication is needed.
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PMID:Childhood autism rating scale--Tokyo version for screening pervasive developmental disorders. 1251 63

The study of neurogenetic microdeletion syndromes provides an insight into the developmental psychopathology of psychiatric disorders. The aim of the study was to evaluate the prevalence of psychiatric disorders, especially obsessive-compulsive disorder (OCD), in patients with velocardiofacial syndrome (VCFS), a 22q11 microdeletion syndrome. Forty-three subjects with VCFS of mean age 18.3 +/- 10.6 years were comprehensively assessed using semi-structured psychiatric interview and the Yale-Brown obsessive compulsive scale (Y-BOCS). Best estimate diagnoses were made on the basis of information gathered from subjects, parents, teachers, and social workers. Fourteen VCFS subjects (32.6%) met the DSM-IV criteria for OCD. OCD had an early age of onset and generally responded to fluoxetine treatment. It was not related to mental retardation. The most common obsessive-compulsive symptoms were contamination, aggression, somatic worries, hoarding, repetitive questions, and cleaning. Sixteen of the 43 patients (37.2%) had attention-deficit/hyperactivity disorder (ADHD), and 7 (16.2%) had psychotic disorder. The results of our study suggest that there is a strong association between VCFS and early-onset OCD. This finding may be significant in the understanding of the underlying genetic basis of OCD.
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PMID:Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. 1504 57

The interrelationship between the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule-Generic (ADOS-G) and clinical classification was studied in 184 children and adolescents with Mental Retardation (MR). The agreement between the ADI-R and ADOS-G was fair, with a substantial difference between younger and older children (5-8 vs. 8+ years). Compared with the Diagnostic and Statistical Manual of Mental Disorders-IV-TR (DSM-IV-TR) classification of Autistic Disorder (AD) and Pervasive Developmental Disorder (PDD), both instruments measure AD or PDD validly and reliably. Even in low-functioning children the interrelationship between the instruments and the clinical classification was satisfactory. The combination of ADI-R and ADOS-G identifies AD or PDD, as described in the DSM-IV-TR, most appropriately. Both instruments seem to be of great value in the diagnostic process of PDD in children and adolescents with MR.
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PMID:Interrelationship between Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) classification in children and adolescents with mental retardation. 1516 32

The aim of this research was to study the psychological effects of disorders such as schizophrenia and depression associated with mental retardation. The Rorschach Inkblot Test and the Wechsler Adult Intelligence Scale were administered to a group of 97 subjects (52 women and 45 men) ages 15:10 yr. to 36:6 yr. (M=21:5, SD=5:3). The subjects were divided into four subgroups according to the presence or absence of mental retardation and psychiatric diagnosis (schizophrenia versus depression). The quality of the perception in Rorschach responses and the ErlebnisTypus scores differentiated psychotic and depressed subjects well. These disorders, when associated with mental retardation, make impairment of perceptual performance worse. The interaction between Axis I mental disorders (according to DSM-IV diagnosis) and mental retardation, an Axis II disorder, is discussed.
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PMID:Psychopathology and mental retardation: a study using the Rorschach Inkblot Test. 1536 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

This study was undertaken to identify psychiatric morbidity among Korean second and third elementary school children using an objective diagnostic interview tool. Data from 5,118 (2,723 boys, 2,395 girls; mean age = 8.41 years (SD = 0.66)) second and third grade schoolchildren were drawn from 28 elementary schools. After initial screening assessments using the 28-item Child Problem-Behavior Screening Test for parents, 672 primary caregivers were subjected to secondary screening using the Korean version of the CBCL. Two hundred and seventy-one high-risk children selected according to the K-CBCL results, 138 (50.9%) children and their primary caregivers were interviewed using the Korean version of K-SADS-PL for objective DSM-IV psychiatric diagnoses. Sixty-four (46.4%) of the hundred and thirty eight children were determined to have at least one psychiatric disorder. More boys were diagnosed as psychiatric patients than girls (46 males, 18 females; OR = 2.21). The most frequently diagnosed disorder was ADHD (46/64; 71.9%), followed by tic disorder, anxiety disorders, mental retardation, oppositional defiant disorder, and separation anxiety disorder. Two or more comorbid psychiatric disorders were found in 22 (34.4%) of the 64 patients. The computed crude percentage of psychiatric patients in this study was 4.12%, which is similar to previously published data.
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PMID:Psychiatric morbidity of second and third grade primary school children in Korea. 1622 48

Dopamine transporter (DAT) gene is implicated in the pathogenesis of attention deficit hyperactivity disorder (ADHD). Previously a meta-analysis concluded no association between the variable-number-of-tandem-repeats (VNTR) polymorphisms of the DAT gene and ADHD. However, significant heterogeneity was present among studies and no conclusion can be drawn about the association in any single ethnicity given the small number of studies. There were also conflicting results in Chinese populations. We therefore perform the present study to investigate the association in Chinese children in Hong Kong. In this prospective family-based and case-control study during January to June 2004, we recruited consecutive Chinese children diagnosed with ADHD by DSM-IV criteria, their family members, 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 DAT 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 10-repeat allele (92.6%) and the 10/10 repeat genotype (85.2%) were the most prevalent. Both family-based and case-control analyses showed no association between the DAT gene polymorphisms and ADHD (transmission dysequilibrium test: P = 0.99; odds ratio of 10-repeat allele = 0.89 (95%CI 0.35-2.28), P = 0.81; odds ratio of 10/10 repeat genotype = 0.69 (95%CI 0.26-1.84), P = 0.46). We concluded that VNTR polymorphism of the DAT gene is not associated with ADHD in Chinese children, and further studies are needed to clarify the polygenic and environmental influences for pathogenesis of ADHD.
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PMID:No association between VNTR polymorphisms of dopamine transporter gene and attention deficit hyperactivity disorder in Chinese children. 1640 40

Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau-Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield.
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PMID:Etiologic yield of autistic spectrum disorders: a prospective study. 1641 94


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