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

Autistic disorder is a pervasive developmental disorder considered to have a multigenic origin. Mental retardation is present in 75% of autistic patients. Autistic features are found in Rett syndrome, a neurological disorder affecting girls and associated with severe mental retardation. Recently, the gene responsible for the Rett syndrome, methyl CpG-binding protein (MECP2) gene, was identified on the X chromosome by a candidate gene strategy. Mutations in this gene were also observed in some mentally retarded males. In this study we tested MECP2 as a candidate gene in autistic disorder by a DGGE analysis of its coding region and intron-exon boundaries. Among 59 autistic patients, 42 males and 17 females, mentally retarded or not, no mutations or polymorphisms were present in the MECP2 gene. Taking into account the size of our sample, we conclude that MECP2 coding sequence mutations are not an important factor (less than 5% of cases) in the aetiology of autistic disorder.
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PMID:No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. 1146 49

We report on a mother and son with Cowden syndrome and a PTEN mutation. The boy also exhibits autistic behavior and mental retardation, while his mother has a normal intelligence and social interaction pattern. We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.
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PMID:PTEN mutation in a family with Cowden syndrome and autism. 1149 68

The Behavior Problems Inventory (BPI-01) is a 52-item respondent-based behavior rating instrument for self-injurious, stereotypic, and aggressive/destructive behavior in mental retardation and other developmental disabilities. Items are rated on a frequency scale and a severity scale. The BPI-01 was administered by interviewing direct care staff of 432 randomly selected residents from a developmental center between the ages of 14 to 91 years. For 73% of those selected, at least one problem was endorsed on the BPI-01. A total of 43% showed self-injury, 54% stereotyped behavior, and 38% aggressive/destructive behavior. Confirmatory factor analysis and item-total correlations supported the three a priori factors. Analyses of variance (ANOVA) showed that of the variables age, sex, and level of mental retardation, only the latter had a significant effect on the BPI-01 total score, the SIB subscale score, and the Stereotyped Behavior subscale score. Aggression/destruction was not significantly related to any of the three variables. Individuals with a diagnosis of pervasive developmental disorder had higher scores on all three subscales than those without, whereas residents with a diagnosis of stereotyped movement disorder had higher Stereotyped Behavior scale scores than those without. The BPI-01 was found to be a reliable (retest reliability, internal consistency, and between-interviewer-agreement) and valid (factor and criterion validity) behavior rating instrument for problem behaviors in mental retardation and developmental disabilities with a variety of potentially useful applications. Strengths and limitations of the instrument are discussed.
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PMID:The Behavior Problems Inventory: an instrument for the assessment of self-injury, stereotyped behavior, and aggression/destruction in individuals with developmental disabilities. 1181 69

Antipsychotic drugs are used to treat a wide variety of child psychiatric disorders characterized by psychotic symptoms, aggression, excitement, tics, stereotypies and hyperactivity nonresponsive to other therapies. Unfortunately, typical antipsychotics have many adverse effects limiting their long-term use. Novel antipsychotics with combined dopaminergic and serotonergic action, such as risperidone, appear to offer better safety and efficacy profiles in controlled studies of adult patients, and therefore appeared as promising pharmacotherapeutic agents in child psychiatry. The purpose of this retrospective chart review was to obtain data on the potential effectiveness and tolerability of risperidone in children and adolescents presenting with a variety of chronic and severe psychiatric disorders who had been unresponsive to previous pharmacological treatments. Charts for 106 children and adolescents (males n = 81 or 76.4%; females n = 25 or 23.6%), presenting with attention deficit and/or hyperactivity disorder (n = 49 or 46.2%), conduct disorder (n = 13 or 12.3%), oppositional-defiant disorder (n = 5 or 4.7%), behavioural problems not otherwise specified (n = 2 or 1.9%), autism (n = 8 or 7.5%), Asperger's syndrome (n = 8 or 7.5%), pervasive developmental disorder (PDD) not otherwise specified (n = 4 or 3.8%), anxiety (n = 6 or 5.7%), depression (n = 2 or 1.9%), dysthymia (n = 2 or 1.9%), schizophrenia (n = 4 or 3.8%), adjustment disorder (n = 1 or 0.9%) and obsessive-compulsive disorder (n = 2 or 1.9%) were reviewed retrospectively to determine the tolerability and potential efficacy of risperidone treatment for a variety of psychiatric disorders. Six subjects also presented with mental retardation. The average length of illness prior to risperidone treatment was 5 years and the average age of risperidone treatment onset was 11 years. The mean daily dose of risperidone was 1.2 mg (range = 0.25 to 8.0 mg). Very few adverse effects were reported. The average length of risperidone treatment was 11 months with the majority (n = 75 or 76%) of patients maintained on risperidone following study termination. Seven cases (6.6%) were missing follow-up data. The majority (n = 78 or 74%) of patients were taking concurrent psychiatric medications, most commonly stimulants for the treatment of ADHD. Clinical global improvements for children and adolescents at the final study visit were marked (n = .37 or 34.9%), moderate (n = .40 or 37.7%), mild (n = 13 or 12.4%), none (n = 12 or 11.3%), or worse (n = 1 or 1%). Three cases (2.9%) were missing clinical improvement data. Results suggest that risperidone may be useful for managing behavioural disturbances and psychotic symptoms associated with a wide variety of childhood psychiatric disorders. For most patients in the study, a combination of risperidone and adjunctive pharmacotherapy was beneficial. Controlled and discontinuation studies of risperidone treatment in children and adolescents with behavioural and psychotic disorders are recommended.
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PMID:A retrospective chart review of risperidone use in treatment-resistant children and adolescents with psychiatric disorders. 1181 3

Autistic disorder (autism) is a neuropsychiatric syndrome characterized by marked deficits in reciprocal social relatedness, communication impairment and a narrow range of interests and/or repetitive behaviors. Autism is frequently associated with, but distinct from, mental retardation. It is classified as a subtype of pervasive developmental disorder (PDD) along with 'PDD not otherwise specified' (NOS) and Asperger's disorder. These disorders have in common marked impairments in social relatedness. Individuals with autism may also have other symptoms that become the primary focus of psychiatric treatment. These associated symptoms include aggression, self-injury, irritability and anxiety.
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PMID:Risperidone: a potential treatment for autism. 1221 17

Autistic disorder, a pervasive developmental disorder resulting in social, language, or sensorimotor deficits, occurs in approximately seven of 10,000 persons. Early detection and intervention significantly improve outcome, with about one third of autistic persons achieving some degree of independent living. Indications for developmental evaluation include no babbling, pointing, or use of other gestures by 12 months of age, no single words by 16 months of age, no two-word spontaneous phrases by 24 months of age, and loss of previously learned language or social skills at any age. The differential diagnosis includes other psychiatric and pervasive developmental disorders, deafness, and profound hearing loss. Autism is frequently associated with fragile X syndrome and tuberous sclerosis, and may be caused by lead poisoning and metabolic disorders. Common comorbidities include mental retardation, seizure disorder, and psychiatric disorders such as depression and anxiety. Behavior modification programs are helpful and are usually administered by multidisciplinary teams, targeted medication is used to address behavior concerns. Many different treatment approaches can be used, some of which are unproven and have little scientific support. Parents may be encouraged to investigate national resources and local support networks.
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PMID:Autism: a medical primer. 1244 66

This study examined the association between adaptive behavior and general cognitive level in individuals with autism or PDD-NOS with and without comorbid mental retardation. Data from the screening version of the Vineland Adaptive Scales and the Wechsler Intelligence Scales were analysed in a sample of 67 subjects. While in the higher functioning individuals (IQ > 70, n = 34) IQ and adaptive behavior level differed significantly, performances were fairly comparable in subjects showing lower cognitive functioning (IQ < 70, n = 33). Regression models revealed a higher correlation between IQ and single adaptive behavior domains in the non-mentally retarded participants, with the domain Communication reaching the highest predictive power of the single adaptive behavior areas. Findings indicate, the relationship between adaptive and cognitive function in autistic disorders is mediated by the presence of a qualitative reduction of intelligence. Methodological limitations of the study are discussed.
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PMID:The relation between general cognitive level and adaptive behavior domains in individuals with autism with and without co-morbid mental retardation. 1246 53

The methyl-CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. Most female patients with MeCP2 mutations exhibit the classic features of RS, including autistic behaviors. Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation. Ninety nine patients from the South Carolina autism project (SCAP) were screened for MeCP2 mutations, including all 41 female patients from whom DNA samples were available plus the 58 male patients with the lowest scores on standard IQ tests and/or the Vineland Adaptive Behavior Scale. No pathogenic mutations were observed in these patients. One patient had the C582T variant, previously reported in the unaffected father of an RS patient. Two other patients had single nucleotide polymorphisms in the 3' UTR of the gene, G1470A and C1516G. These variants were seen in 12/82 and 1/178 phenotypically normal male controls, respectively. The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism.
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PMID:Absence of MeCP2 mutations in patients from the South Carolina autism project. 1255 43

The performance of two screening instruments for Pervasive Developmental Disorders was studied in the total population of participants with mental retardation between 4 and 18 years (n = 1059) in Friesland, a northern province of the Netherlands. Parents completed the Autism Behavior Checklist (ABC), staff completed the Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS). The screening instruments were related to the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule-Generic for 184 participants. The agreement between ABC and PDD-MRS was fair (kappa = .24). The ABC had a better criterion-related validity compared with the Autism Diagnostic Interview-Revised, and the PDD-MRS compared to the Autism Diagnostic Observation Schedule-Generic. However, related to the clinical classification, both instruments performed equally well. Concluding, the ABC and PDD-MRS partially identify the same cases related to external criteria. In addition, each instrument has its own contribution. Both instruments are valuable in detecting children who are at high risk for PDD.
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PMID:Measuring pervasive developmental disorders in children and adolescents with mental retardation: a comparison of two screening instruments used in a study of the total mentally retarded population from a designated area. 1471 29

Deletions of the sub-telomeric region of chromosome 22 have been associated with mental retardation, developmental delay, and autistic behaviors. This study investigated sub-telomeric anomalies of chromosome 22 using fluorescent in situ hybridization (FISH) probes in 82 subjects diagnosed with autism and atypical autism. No microdeletions were detected in this group. Similar FISH analyses were undertaken on two children with developmental delay, who were ascertained to be ring 22 during routine cytogenetic investigations. One subject was shown to have a microdeletion in the sub-telomeric region tested. Both children met the social and communication cut off for autism on the ADI and but did not meet the cut off for restrictive and repetitive behaviors. Only one of the two children met the criteria for PDD on the ADOS.
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PMID:An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders. 1475 53


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