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)

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

Developmental disabilities (DD) are defined as a diverse group of severe chronic conditions due to mental and/or physical impairments. Individuals with developmental disabilities have difficulty with major life activities including language, mobility, and learning. Developmental disabilities can begin anytime during development--from prenatal up to 22 years of age, and the disability usually lasts throughout a person's lifetime. Autism spectrum disorders, cerebral palsy, mental retardation, and attention deficit hyperactivity disorder are common conditions falling within the definition of developmental disabilities. Complementary and alternative medicine (CAM) is becoming increasingly utilized in the general population for treatment of everything from the common cold to complex and chronic medical conditions. This article reviews the prevalence of different types of CAM used for various developmental disabilities.
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PMID:Complementary and alternative medicine in developmental disabilities. 1639 50

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

Synapse-specific local protein synthesis is thought to be important for neurodevelopment and plasticity and involves neuronal RNA-binding proteins that regulate the transport and translation of dendritically localized transcripts. The best characterized of these RNA-binding proteins is the fragile X mental retardation protein (FMRP). Mutations affecting the expression or function of FMRP cause fragile X syndrome in humans, and targeted deletion of the gene encoding FMRP results in developmental and behavioral alterations in mice. Translin is an RNA-binding protein that regulates mRNA transport and translation in mouse male germ cells and is proposed to play a similar role in neurons. Like FMRP, translin is present in neuronal dendrites, binds dendritically localized RNA, and associates with microtubules and motor proteins. We reported previously the production of viable homozygous translin knock-out mice, which demonstrate altered expression of multiple mRNA transcripts in the brain and mild motor impairments. Here, we report that translin knock-out mice also exhibit sex-specific differences in tests of learning and memory, locomotor activity, anxiety-related behavior, and sensorimotor gating, as well as handling-induced seizures and alterations in monoamine neurotransmitter levels in several forebrain regions. Similar behavioral and neurochemical alterations have been observed in mice lacking FMRP, suggesting that both proteins may act within the same neuronal systems and signaling pathways. Our results in mice indicate that mutations in translin may contribute to fragile X-like syndromes, mental retardation, attention deficit hyperactivity disorder, epilepsy, and autism spectrum disorders in humans.
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PMID:Behavioral and neurochemical alterations in mice lacking the RNA-binding protein translin. 1649 45

To assess the validity of ADHD in children with mental retardation, we applied Robins and Guze's [Robins, E., and Guze, S.B. (1970). Establishment of diagnostic validity in psychiatric illness: Its application to schizophrenia. American Journal of Psychiatry, 126, 983-987.] criteria for determining the validity of a psychiatric disorder. We review the literature describing clinical correlates, family history, treatment response, laboratory studies, course, and outcome of children with ADHD and mental retardation. Although clearly an area in need of further research, there is preliminary evidence to suggest that ADHD is a valid psychiatric condition in children with mental retardation. Nevertheless, without knowing the base rates of ADHD symptoms in the mental retardation population, the positive predictive power and negative predictive power of ADHD symptoms in this population remain an open question. In addition to assessment of base rate symptoms, future research should consider what diagnostic algorithm may best be applied to the diagnosis of ADHD in mental retardation.
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PMID:Is ADHD a valid disorder in children with intellectual delays? 1668 97

The study concerns the specific cognitive and adaptive skills of persons dually diagnosed with mental retardation (MR) and comorbid pathologies, as schizophrenia, personality and mood disorders, pervasive developmental disorders, epilepsy and ADHD. The sample was composed of 182 subjects, diagnosed as mild or moderate MR level, age range from 6 years 8 months to 50 years 2 months, mean age 17.1 (standard deviation 7.9). All the subjects were inpatients in a specialized structure for the diagnosis and the treatment of MR. The instruments of the study were Wechsler Intelligence Scale (WAIS-R or WISC-R according to the chronological age of subjects) and Vineland Adaptive Behavior Scale (VABS). Results confirm that comorbidity is a factor differentiating among mentally retarded subjects. Both verbal processes requiring memory retrieval and visuo-spatial processes are involved as differentiating features. ADHD strongly increases the impairment of cognitive skills, while behavioral disorders are less damaging in MR performance. In adult samples, the differentiating role of comorbid syndromes in MR individuals is reduced for cognitive skills, and limited to some basic verbal abilities, more impaired in mood disorder, less in schizophrenic disorder. The areas of adaptation and socialization, motor and daily living skills, are impaired more in generalized development disturbances than in comorbid schizophrenic and personality and mood disorders. An accurate psychological assessment of dual diagnoses is useful in detecting the specific underlying processes differentiating the comorbid syndromes, and in planning an appropriate rehabilitative treatment.
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PMID:Psychiatric syndromes comorbid with mental retardation: differences in cognitive and adaptive skills. 1669 12

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

Emergency departments (EDs) are vital in the management of pediatric patients with mental health emergencies (MHE). Pediatric MHE are an increasing part of emergency medical practice because EDs have become the safety net for a fragmented mental health infrastructure which is experiencing critical shortages in services in all sectors. EDs must safely, humanely, and in a culturally and developmentally appropriate manner manage pediatric patients with undiagnosed and known mental illnesses including those with mental retardation, autistic spectrum disorders, attention deficit hyperactivity disorder (ADHD), and those experiencing a behavioral crisis. EDs also manage patients with suicidal ideation, depression, escalating aggression, substance abuse, post traumatic stress disorder, maltreatment, and those exposed to violence and unexpected deaths. EDs must address not only the physical but also the mental health needs of patients during and after mass casualty incidents and disasters. The American Academy of Pediatrics and the American College of Emergency Physicians support the following actions: advocacy for increased mental health resources, including improved pediatric mental health tools for the ED, increased mental health insurance coverage, adequate reimbursement at all levels; acknowledgment of the importance of the child's medical home, and promotion of education and research for mental health emergencies.
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PMID:Pediatric mental health emergencies in the emergency medical services system. American College of Emergency Physicians. 1699 98

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. The patient was born at term after a pregnancy complicated by threatened abortion; decreased fetal movements and low estriol serum levels were reported during the last trimester. The boy was referred to us at the age of 13 years. He presented with aggressive and hyperactive behavior. He had dry hair, a flat face, bilateral lens opacities, a small nose with hypoplastic tip, alae nasi and nares, a high-arched palate with a very small cleft, mixed dentition with 7 unerupted permanent teeth, left sensorineural and right mixed hearing loss with a calcified plaque of the tympanic membrane, marked shortness of terminal phalanges of hands and feet, ichthyosis of trunk and limbs. The genomic interval between AFM248th5 and KAL1 was investigated. PCR analysis showed a deletion in Xp22.3, with the distal breakpoint between the marker AFM248th5 and PABX and the proximal one between DXS278 and KAL1. Array-CGH and FISH analysis confirmed the interstitial deletion (of about 5.5 Mb) and refined the breakpoints. We discuss the phenotype of our patient in relationship to the deleted segment and the possibility of mental retardation and ADHD genes in the region.
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PMID:Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 1759 64


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