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

Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the study of mathematical performance in girls with Turner syndrome presents opportunities to advance our knowledge of mathematics ability, disability, and disability subtypes. Moreover, the Turner syndrome phenotype illustrates the challenges faced when defining mathematical learning disability (MLD) and characterizing MLD subtypes because the cognitive phenotype is aligned with several proposed MLD subtypes. There is some evidence linking MLD in Turner syndrome with spatial deficits, with executive dysfunction, and with deficient numerosity skills. Yet there is also conflicting evidence as to whether any of these explanations underlies MLD in Turner syndrome. Most mathematical difficulties in girls with Turner syndrome, as a group, occur on timed tests or on complex problems. On untimed tests, achievement test scores may be age appropriate. Therefore, the inclusion of MLD in the Turner syndrome cognitive phenotype reminds us that we cannot rule out MLD solely on the basis of performance on an untimed calculations subtest, and it poses a challenge to the widespread practice in which many researchers engage, that is, defining MLD on the basis of broad mathematics achievement test outcomes.
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PMID:Mathematical learning disability in girls with Turner syndrome: a challenge to defining MLD and its subtypes. 1921 15

In addition to its medical impact with respect to loss of control, drug effects, and comorbidity, epilepsy has a marked impact on a child's life. Population-based studies show that 70-76% of children with epilepsy have some type of disability or handicap affecting their daily life and choices for the future. Comorbidity and, specifically, learning disability (sometimes referred to as mental retardation) modify the life of a child and the family. To improve these children's position in society, they should have the same opportunities and be allowed to make choices on the basis of their abilities, not their diagnosis of epilepsy. Supporting the development of acceptance, self-reliance, self-respect, and self-empowerment of children with epilepsy is crucial to their achieving a place in the community equal to their abilities. This is a challenging task for their families, relatives, schoolteachers, employers, and legislators.
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PMID:The psychosocial impact of epilepsy in childhood. 1929 67

Array-based comparative genomic hybridization is being increasingly used in patients with learning disability (mental retardation) and congenital anomalies. In this article, we update our previous meta-analysis evaluating the diagnostic and false-positive yields of this technology. An updated systematic review and meta-analysis was conducted investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic analyses have proven negative. Nineteen studies (13,926 patients) were included of which 12 studies (13,464 patients) were published since our previous analysis. The overall diagnostic yield of causal abnormalities was 10% (95% confidence interval: 8-12%). The overall number needed to test to identify an extra causal abnormality was 10 (95% confidence interval: 8-13). The overall false-positive yield of noncausal abnormalities was 7% (95% confidence interval: 5-10%). This updated meta-analysis provides new evidence to support the use of array-based comparative genomic hybridization in investigating patients with learning disability and congenital anomalies in whom conventional cytogenetic tests have proven negative. However, given that this technology also identifies false positives at a similar rate to causal variants, caution in clinical practice should be advised.
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PMID:Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. 1936 86

A 14 year old Bangladeshi boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and undescended testes. Retinitis pigmentosa was found on fundoscopy. With typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Biedl syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males and renal dysfunction. Relatives with a single affected gene may have obesity, hypertension, diabetes and renal disease. There is increased risk of renal cell carcinoma. There is no definite treatment. Early diagnosis and symptomatic, supportive and rehabilitative measures can reduce the disability. These include dietary modification, oral hypoglycaemic drugs, testosterone supplement etc. Relatives of the patient should be screened for renal abnormality.
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PMID:Laurence Moon Bardet Biedl Syndrome. 1937 20

Rare copy number variants (CNVs) are frequently associated with common neurological disorders such as mental retardation (MR; learning disability), autism, and schizophrenia. CNV screening in clinical practice is limited because pathological CNVs cannot be distinguished routinely from benign CNVs, and because genes underlying patients' phenotypes remain largely unknown. Here, we present a novel, statistically robust approach that forges links between 148 MR-associated CNVs and phenotypes from approximately 5,000 mouse gene knockout experiments. These CNVs were found to be significantly enriched in two classes of genes, those whose mouse orthologues, when disrupted, result in either abnormal axon or dopaminergic neuron morphologies. Additional enrichments highlighted correspondences between relevant mouse phenotypes and secondary presentations such as brain abnormality, cleft palate, and seizures. The strength of these phenotype enrichments (>100% increases) greatly exceeded molecular annotations (<30% increases) and allowed the identification of 78 genes that may contribute to MR and associated phenotypes. This study is the first to demonstrate how the power of mouse knockout data can be systematically exploited to better understand genetically heterogeneous neurological disorders.
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PMID:Forging links between human mental retardation-associated CNVs and mouse gene knockout models. 1955 86

Mental retardation (MR) is characterized by cognitive impairment with an IQ <70. Many of the major causes are genetically determined and the approximately 30% male excess suggests that mutations in genes carried on the X chromosome are disproportionably represented. One such gene, jumonji AT-rich interactive domain 1C (JARID1C) on Xp11.2, has been identified in families with X-linked MR (XLMR), with 18 different mutations reported to date. As part of a systematic resequencing of 720 genes in 208 XLMR families of the International Genetic of Learning Disability (IGOLD) consortium, two novel nucleotide changes in the JARID1C coding region were identified, with the nucleotide changes segregating with the disease phenotype in the two families. The first mutation is a single-nucleotide insertion in exon 21 (c.3258_3259insC p.K1087fs(*)43) causing a frameshift and resulting in a premature termination codon (PTC). Such PTC-containing mRNAs are generally degraded by nonsense-mediated mRNA decay (NMD) surveillance, but our results show that this is not the case with this mutation. The other change is a single-nucleotide substitution in exon 12 (c.1160C>A) in a published family with nonsyndromic MR, MRX13. This change occurs in a highly conserved amino acid, with proline (P) being substituted by threonine (T) (p.P554T). [corrected] Functional analysis shows that this amino-acid substitution compromises both tri- and didemethylase activity of the JARID1C protein. We conclude that the two novel changes impair JARID1C protein function and are disease-causing mutations in these families.
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PMID:Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 1982 49

The primary goal of this study was to assess the association between the full birth weight distribution and prevalence of specific developmental disabilities and related measures of health and special education services utilization in US children. Using data from the 1997-2005 National Health Interview Survey (NHIS) Sample Child Core, we identified 87,578 children 3-17 years of age with parent-reported information on birth weight. We estimated the prevalences of DDs (attention-deficit/hyperactivity disorder [ADHD], autism, cerebral palsy, hearing impairment, learning disability without mental retardation, mental retardation, seizures, stuttering/stammering, and other developmental delay) and several indicators of health services utilization within a range of birth weight categories. We calculated odds ratios adjusted for demographic factors (AOR). We observed trends of decreasing disability/indicator prevalence with increasing birth weight up to a plateau. Although associations were strongest for very low birth weight, children with "normal" birth weights of 2,500-2,999 g were more likely than those with birth weights of 3,500-3,999 g to have mental retardation (AOR 1.9 [95% CI: 1.4-2.6]), cerebral palsy (AOR 2.4 [95% CI: 1.5-3.8]), learning disability without mental retardation (AOR 1.2 [95% CI: 1.1-1.4]), ADHD (AOR 1.2 [95% CI: 1.1-1.3]), and other developmental delay (AOR 1.3 [95% CI: 1.1-1.5]) and to receive special education services (AOR 1.3 [95% CI: 1.2-1.5]). While much research has focused on the health and developmental outcomes of low and very low birth weight children, these findings suggest that additional study of a continuous range of birth weights may be warranted.
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PMID:Birth weight and health and developmental outcomes in US children, 1997-2005. 1990 44

It has been suggested that the Sentence Repetition Test (SRT) could serve as an adequate embedded symptom validity measure identifying suspect effort during neuropsychological testing. However, very little research has examined sensitivity and specificity rates when using this measure in a variety of clinical settings. The SRT was administered to 1031 patients referred for neuropsychological assessment in outpatient, inpatient, and independent medical evaluation settings. These patients were diagnosed with a wide range of psychiatric, developmental, and neurological disorders. The results of this study reveal that the SRT is a valid measure of suspect effort for the vast majority of these patients (sensitivity = 56.8% and specificity = 95.8% in combined clinical settings). However, analyses also indicate that the SRT is not a valid effort measure for individuals with mental retardation or dementia due to specificity rates falling well below 90% for both groups. Furthermore, the validity of the SRT as an effort measure is questionable for individuals with English as a second language, with a verbal learning disability, with a left cerebrovascular accident, or with an expressive-receptive language disorder due to small sample sizes or borderline specificity rates. Sensitivity, specificity, positive predictive accuracy, and negative predictive accuracy rates are provided for varying cutoff scores in inpatient, outpatient, and IME settings. The results of this extensive study confirm that the SRT can be a useful measure in detecting suspect effort in neuropsychological testing while also providing valuable clinical information.
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PMID:Validation of the sentence repetition test as a measure of suspect effort. 1995 25

Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five other patients have been reported. We propose that individuals with EP300 mutations may exhibit a slightly different phenotype compared to individuals with CREBBP mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia.
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PMID:Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. 2094 5

The aims of this study were to estimate prevalence rates of children with autism spectrum disorder (ASD) diagnoses in a cohort of 6-year-old children with birth year 2002, referred to the Autism Centre for Young Children, serving the whole of Stockholm county and on the basis of the available data discuss clinical aspects of assessment, habilitation and follow-up. Records of 142 of a total of 147 (123 boys and 24 girls) identified children with ASD diagnoses were scrutinised with respect to type of diagnosis, cognitive level, other developmental disorders and medical/neurological disorders. The overall prevalence of such disorders was 6.2/1000 (95% confidence interval 5.2-7.2/1000). The rates of learning disability/mental retardation, developmental delay without a specified cognitive level and normal intelligence constituted about one third, respectively. AS and atypical autism tended to be diagnosed more often at age 5-6 years while AD with learning disability/mental retardation was more often diagnosed at age 3-4 years. The awareness of ASDs has resulted in increasing numbers of children being diagnosed at young ages. We conclude that it is important to take into account these children's broader developmental profiles, need for repeated assessment of cognitive functions and follow-up over time and also the requirement for medical/neurological consideration and work-up.
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PMID:Autism spectrum disorder diagnoses in Stockholm preschoolers. 2014 93


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