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

This study attempted to find clinical variables evaluated at age 2 that would predict mental retardation (MR, IQ/cognition-adaptation developmental quotient [C-A DQ]<70) at age 5 in 57 children with pervasive developmental disorder (PDD). About two-thirds of subjects had MR at both initial and outcome evaluations. The C-A DQ at initial evaluation was significantly lower in mentally retarded PDD (MRPDD) than in high-functioning (IQ >or= 70) PDD (HFPDD). MRPDD changed less than HFPDD in IQ/C-A DQ between ages 2 and 5. The C-A DQ at age 2 was a potent predictor for MR at age 5 and the total score and three item scores of Childhood Autism Rating Scale-Tokyo Version evaluated at age 2 were also useful in predicting MR at age 5.
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PMID:Clinical variables at age 2 predictive of mental retardation at age 5 in children with pervasive developmental disorder. 1640 Dec 49

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

The KINDL-questionnaire is able to measure degrees of health and adaptability in relation to quality of life (QOL) in children. The questionnaire can be completed by children, adolescents, and their parents (parent-version). We had translated Kid-KINDL questionnaire into Japanese as Questionnaire for Measuring QOL in Japanese Elementary School Children, and reported their reliability and validity. This study investigates Japanese elementary school version of the Kid-KINDL questionnaire scores consisting of 6 dimensions (4 items each;total score, 100) for children with developmental disorders without mental retardation including high-functioned pervasive developmental disorder, attention deficit/hyperactivity disorder and learning disorder, and the parent-version scores for their mothers. Twenty individuals in normal class and their mothers participated after informed consents were obtained. Their total QOL scores were significantly lower than those in control group. Four of 6 dimensions consisting of emotional well-being, self-esteem, family, friends and school had significantly lower points. Their mothers' points in total QOL scores and all dimensions except for family dimension were significantly lower than those in control group. In comparison of scores between children with mild developmental disorders and their mothers, children estimated lower in self-esteem and family dimensions instead mother estimated lower in health, emotional well-being and school dimensions. There was no difference in total scores between them. Children with mild developmental disorders and their mothers estimate lower points of QOL scores than those of the normal control group. There are different perceptions in 5 of 6 dimensions between the children and their mothers.
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PMID:[Study of the kid-kINDL questionnaire scores for children with developmental disorders in normal classes and their parents]. 1671 31

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

Neuropsychological functioning of 30 siblings of children with autism (AU-S), 28 siblings of children with mental retardation of (MR-S), and 30 siblings of children with developmental language delay (DLD-S) was compared. Two siblings, both AU-S, received diagnoses of pervasive developmental disorder (PDD). More siblings with cognitive disabilities were found in DLD-S than in AU-S. However, these differences disappeared after excluding diagnosed siblings or after accounting for family membership. In sum, despite the elevated incidence of PDD among AU-S, the neuropsychological functioning of the remaining siblings did not convey specific characteristics related to the genetic risk associated with autism, in contrast to the cognitive functioning of the DLD-S, which did reflect a genetic risk.
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PMID:Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay, and siblings of children with mental retardation of unknown genetic etiology. 1701 78

Autistic disorder is a pervasive developmental disorder which starts before the age of 3. The clinic features of autism are variable; the autonomy degree, the speech quality, the mental retardation associated and specially the existence of an organic disease change its clinic expression. A good knowledge of the basic signs is important to put diagnosis. This work, propose to describe a clinic and a Para clinic profile of Tunisian population of children with autism. The study included 63 children referred to the child psychiatry department between January 1998 and September 2003 and diagnosed with autistic disorder according to DSMIV and ADI-R criteria. The population profile studied is drawn as following : The sex ratio was of 3/1, the average age was of 8 years+/-3 years. Parents were related in 39.3% of cases. On the clinical plan, 51.2% of children with autism studied did not have expressive speech. They presented a mental retardation associated in 60.8% of cases. Epilepsy was presented in 21 children out of 63. This profile links literature study except in 2 points: - The rate of relatives with autism (8.6%) is superior to the rate found in literature(3%). This result can be explained by the high rate of consanguinity in the Tunisian studied population (39.3%). - Importance of associated organic pathologies (mental retardation).
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PMID:[A clinic and a paraclinic study of Tunisian population of children with autism. About 63 cases]. 1728 76

Parents raising a child with significant developmental challenges are profoundly aware of the often sustained impact of that child's special needs upon their other children. Supported by recent research on siblings of developmentally challenged children, clinicians are advocating family-based interventions that take into account the needs of siblings. This article reviews the experience of siblings who live with brothers or sisters diagnosed with pervasive developmental disorder or mental retardation. Contributions from research on typical siblings are drawn upon when appropriate. Six domains of the sibling experience are identified. These domains explore relational shifts within sibling relationships and through the expectable differential parental treatment of each child. Shifts considered in this review include the interrelationships with the extended family, peers, and friendships, all of which contribute to shaping the meaning that siblings give to living with developmentally challenged brothers or sisters across time.
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PMID:The sibling experience: growing up with a child who has pervasive developmental disorder or mental retardation. 1751 Aug 29

Rett syndrome is one of the leading causes of mental retardation and developmental regression in girls. It is characterized by a period of normal psychomotor development followed by the loss of acquired motor and communication skills, autistic features and stereotypic hand movements. Rett syndrome is the first pervasive developmental disorder with a known genetic cause. The majority of cases are caused by de novo mutations in an X-linked MECP2 gene. Its product, methyl-CpG-binding protein 2, plays an important role in the regulation of gene expression and chromatin structure. Because the neuropathology of Rett syndrome shares certain features with other neurodevelopmental disorders, a common pathogenic process may underlie these disorders. This makes Rett syndrome a prototype for the genetic, molecular, and neurobiological analyses of neurodevelopmental disorders.
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PMID:[Rett syndrome: clinical and molecular aspects]. 1787 30

The intracarotid amobarbital test (IAT) is the most widely used procedure for pre-surgical evaluation of language lateralization in epileptic patients. However, apart from being invasive, this technique is not applicable in young children or patients who present mental retardation and/or language deficits. Functional magnetic resonance imaging (fMRI) is increasingly employed as a non-invasive alternative. Again, this method is more difficult to use with young children, especially hyperactive ones, since they have to remain motionless during data acquisition. The aim of this study was to determine whether near-infrared spectroscopy (NIRS) can be used as an alternative technique to investigate language lateralization in children and special populations. Unlike Wada test, NIRS is non-invasive, and it is more tolerant to movement artefacts than fMRI. In the present study, NIRS data were acquired in four epileptic children, a 12-year-old boy with pervasive developmental disorder and a 3-year-old, healthy child, as well as three healthy and two epileptic adults, while they performed a verbal fluency task and a control task. When applicable, the results were compared to the subjects' fMRI and/or IAT findings. Clear laterality of speech was obtained in all participants, including the two non-epileptic children, and NIRS results matched fMRI and IAT findings. These results, if replicable in larger samples, are encouraging and suggest that NIRS has the potential to become a viable, non-invasive alternative to IAT and fMRI in the determination of speech lateralization in children and clinical populations that cannot be submitted to more invasive techniques.
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PMID:Near-infrared spectroscopy as an alternative to the Wada test for language mapping in children, adults and special populations. 1788 48

Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders. Because of the limited or inconsistent data reported in literature, the role of methyl-CpG-binding protein 2 gene in the pathogenesis of mental retardation and pervasive developmental disorders needs further study. We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. Four methyl-CpG-binding protein 2 gene mutations were found: 2 in 4 girls with Rett disorder, the others in 2 girls with mental retardation. The wide phenotypic spectrum and the variants of methyl-CpG-binding protein 2 gene, which may play an important role in gene regulation and neurodevelopment, justify the literature's interest particularly in girls.
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PMID:Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation. 1918 31


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