Intelligence Quotient (intelligence + quotient)

Distribution by Scientific Domains
Distribution within Medical Sciences


Selected Abstracts


Cognitive profile in a large french cohort of adults with Prader,Willi syndrome: differences between genotypes

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 3 2010
P. Copet
Abstract Background Prader,Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual delay, learning disabilities and maladaptive behaviours. PWS is caused by a lack of expression of maternally imprinted genes situated in the 15q11-13 chromosome region. The origin is a ,de novo' deletion in the paternal chromosome in 70% of the cases and a maternal uniparental disomy in 25%. The two main genotypes show differences, notably regarding cognitive and behavioural features, but the mechanisms are not clear. This study assessed cognitive impairment in a cohort of adults with genetically confirmed PWS, analysed their profiles of cognitive strengths and weaknesses, and compared the profiles in terms of genotype. Methods Ninety-nine male and female adults participated, all inpatients on a specialised unit for the multidisciplinary care of PWS. The Wechsler Adult Intelligence Scale (WAIS-III) was administered to all patients in identical conditions by the same psychologist. Eighty-five patients were able to cope with the test situation. Their scores were analysed with non-parametric statistical tools. The correlations with sex, age and body mass index were explored. Two genotype groups were compared: deletion (n = 57) and non-deletion (n = 27). Results The distribution of intelligence quotients in the total cohort was non-normal, with the following values (medians): Full Scale Intelligence Quotient (FSIQ): 52.0 (Q1:46.0; Q3:60.0), Verbal Intellectual Quotient (VIQ): 53.0 (Q1:48; Q3:62) and Performance Intellectual Quotient (PIQ): 52.5 (Q1:48; Q3:61). No correlation was found with sex, age or body mass index. Comparison between groups showed no significant difference in FSIQ or VIQ. PIQ scores were significantly better in the deletion group. The total cohort and the deletion group showed the VIQ = PIQ profile, whereas VIQ > PIQ was observed in the non-deletion group. The subtest scores in the two groups showed significant differences, with the deletion group scoring better in three subtests: object assembly, picture arrangement and digit symbol coding. Some relative strengths and weaknesses concerned the total cohort, but others concerned only one genotype. Discussion We documented a global impairment in the intellectual abilities of a large sample of French PWS patients. The scores were slightly lower than those reported in most other studies. Our data confirmed the previously published differences in the cognitive profiles of the two main PWS genotypes and offer new evidence to support this hypothesis. These results could guide future neuropsychological studies to determine the cognitive processing in PWS. This knowledge is essential to improve our understanding of gene-brain-behaviour relationships and to open new perspectives on therapeutic and educational programmes. [source]


The Effect of Moderate to Heavy Alcohol Consumption on Neuropsychological Performance as Measured by the Repeatable Battery for the Assessment of Neuropsychological Status

ALCOHOLISM, Issue 3 2010
Alisa Green
Background:, Excessive alcohol use is associated with damage to the structure and function of the brain and impairment of cognition and behavior. Traditional test batteries used to assess cognitive performance in alcoholics are extensive and costly, limiting their use across various clinical and research settings. The Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) is a relatively new instrument that attempts to overcome some of these limitations. As yet the individual effect of moderate to heavy alcohol consumption on RBANS performance has not been examined. The primary aim of this study was to explore and quantify differences in performance between controls and drinkers on the RBANS and to examine the influence of age, gender, and alcohol use patterns on test performance. Methods:, Data from a subset of "Using Our Brains" (UoB) donors (n = 28) still actively drinking and meeting criteria for moderate to heavy alcohol use (30 to 80 g of ethanol per day) (Harper, 1988) and 28 matched controls (age, education, and premorbid Intelligence Quotient) were compared. Results:, Participants in the alcohol group performed below the healthy control group on the visuospatial and immediate memory index, and also on the RBANS total score p < 0.001 and showed a greater decline in RBANS scores from estimated cross-sectional premorbid levels. There was a positive association between alcohol ingestion in the preceding 12 months and the language index p < 0.03 and the semantic fluency subtest (p < 0.03). Age was negatively associated with story memory (p < 0.02), coding (p < 0.001), list recognition (p < 0.01), story recall (p < 0.03), and figure recall (p < 0.02). Conclusion:, Our results suggest that the RBANS is able to detect and characterize differences in verbal fluency, visuospatial skills, components of declarative memory, and psychomotor speed between healthy controls and moderate to heavy active alcohol users. Executive functions, commonly affected by alcoholism and not included in the RBANS, require assessment with additional measures. [source]


Cognitive outcome in children and adolescents treated for acute lymphoblastic leukaemia with chemotherapy only

ACTA PAEDIATRICA, Issue 1 2009
G Elisabeth Lofstad
Abstract Objective: To examine cognitive outcome in children and adolescents with acute lymphoblastic leukaemia (ALL) in remission, treated with central nervous system prophylactic chemotherapy only. Method: Thirty-five children and adolescents, age 8.4,15.3 years in long-term remission from ALL, 4.2,12.4 years post diagnosis, without relapse and no prediagnosis history of neurodevelopmental disorder were compared with 35 healthy controls matched for gender and age, on measures of intellectual functioning Wechsler Intelligence Scale for Children-Third Edition (WISC-III). Results: All but two of the ALL survivors treated by chemotherapy only obtained WISC-III Total Intelligence Quotient (IQ) scores in the normal range (M = 95.3), but their scores were significantly below levels for their matched controls and below normative standards for WISC-III. The difference between patients and controls was significant at the p < 0.001 level for the following measures: Total IQ, Verbal IQ, Verbal Comprehension Index, Freedom from Distraction Index and three verbal subtest scores. Conclusion: The results indicate long-term sequelae in global cognitive functions, and indicate that verbal function, processing speed, attention and complex visual-spatial problem solving may be affected in the chemotherapy only group. [source]


Phenotypic variation and FMRP levels in fragile X

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2004
Danuta Z. Loesch
Abstract Data on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene-specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly significant associations in males between FMRP levels and the Wechsler summary and subtest scores and in females between these levels and the full-scale intelligence quotient (FSIQ), verbal and performance IQ, and some Wechsler subtest scores. The published results based on data from 144 extended families with fragile X, recruited from Australia and the United States within a collaborative NIH-supported project, were obtained using robust modification of maximum likelihood in pedigrees. The results indicated that processing speed, short-term memory, and the ability to control attention, especially in the context of regulating goal-directed behavior, may be primarily affected by the FMRP depletion. The effect of this depletion on physical phenotype was also demonstrated, especially on body and head height and extensibility of finger joints. It is recommended that further studies should rely on more accurate measures of FMRP levels, and use of larger samples, to overcome extensive variability in the data. MRDD Research Reviews 2004;10:31,41. 2004 Wiley-Liss, Inc. [source]


The magnocellular theory of developmental dyslexia

DYSLEXIA, Issue 1 2001
John Stein
Abstract Low literacy is termed ,developmental dyslexia' when reading is significantly behind that expected from the intelligence quotient (IQ) in the presence of other symptoms,incoordination, left,right confusions, poor sequencing,that characterize it as a neurological syndrome. 5,10% of children, particularly boys, are found to be dyslexic. Reading requires the acquisition of good orthographic skills for recognising the visual form of words which allows one to access their meaning directly. It also requires the development of good phonological skills for sounding out unfamiliar words using knowledge of letter sound conversion rules. In the dyslexic brain, temporoparietal language areas on the two sides are symmetrical without the normal left-sided advantage. Also brain ,warts' (ectopias) are found, particularly clustered round the left temporoparietal language areas. The visual magnocellular system is responsible for timing visual events when reading. It therefore signals any visual motion that occurs if unintended movements lead to images moving off the fovea (,retinal slip'). These signals are then used to bring the eyes back on target. Thus, sensitivity to visual motion seems to help determine how well orthographic skill can develop in both good and bad readers. In dyslexics, the development of the visual magnocellular system is impaired: development of the magnocellular layers of the dyslexic lateral geniculate nucleus (LGN) is abnormal; their motion sensitivity is reduced; many dyslexics show unsteady binocular fixation; hence poor visual localization, particularly on the left side (left neglect). Dyslexics' binocular instability and visual perceptual instability, therefore, can cause the letters they are trying to read to appear to move around and cross over each other. Hence, blanking one eye (monocular occlusion) can improve reading. Thus, good magnocellular function is essential for high motion sensitivity and stable binocular fixation, hence proper development of orthographic skills. Many dyslexics also have auditory/phonological problems. Distinguishing letter sounds depends on picking up the changes in sound frequency and amplitude that characterize them. Thus, high frequency (FM) and amplitude modulation (AM) sensitivity helps the development of good phonological skill, and low sensitivity impedes the acquisition of these skills. Thus dyslexics' sensitivity to FM and AM is significantly lower than that of good readers and this explains their problems with phonology. The cerebellum is the head ganglion of magnocellular systems; it contributes to binocular fixation and to inner speech for sounding out words, and it is clearly defective in dyslexics. Thus, there is evidence that most reading problems have a fundamental sensorimotor cause. But why do magnocellular systems fail to develop properly? There is a clear genetic basis for impaired development of magnocells throughout the brain. The best understood linkage is to the region of the Major Histocompatibility Complex (MHC) Class 1 on the short arm of chromosome 6 which helps to control the production of antibodies. The development of magnocells may be impaired by autoantibodies affecting the developing brain. Magnocells also need high amounts of polyunsaturated fatty acids to preserve the membrane flexibility that permits the rapid conformational changes of channel proteins which underlie their transient sensitivity. But the genes that underlie magnocellular weakness would not be so common unless there were compensating advantages to dyslexia. In developmental dyslexics there may be heightened development of parvocellular systems that underlie their holistic, artistic, ,seeing the whole picture' and entrepreneurial talents. Copyright 2001 John Wiley & Sons, Ltd. [source]


Cognitive test scores in male adolescent cigarette smokers compared to non-smokers: a population-based study

ADDICTION, Issue 2 2010
Mark Weiser
ABSTRACT Background Although previous studies indicate that people with lower intelligence quotient (IQ) scores are more likely to become cigarette smokers, IQ scores of siblings discordant for smoking and of adolescents who began smoking between ages 18,21 years have not been studied systematically. Methods Each year a random sample of Israeli military recruits complete a smoking questionnaire. Cognitive functioning is assessed by the military using standardized tests equivalent to IQ. Results Of 20 221 18-year-old males, 28.5% reported smoking at least one cigarette a day (smokers). An unadjusted comparison found that smokers scored 0.41 effect sizes (ES, P < 0.001) lower than non-smokers; adjusted analyses remained significant (adjusted ES = 0.27, P < 0.001). Adolescents smoking one to five, six to 10, 11,20 and 21+ cigarettes/day had cognitive test scores 0.14, 0.22, 0.33 and 0.5 adjusted ES poorer than those of non-smokers (P < 0.001). Adolescents who did not smoke by age 18, and then began to smoke between ages 18,21 had lower cognitive test scores compared to never-smokers (adjusted ES = 0.14, P < 0.001). An analysis of brothers discordant for smoking found that smoking brothers had lower cognitive scores than non-smoking brothers (adjusted ES = 0.27; P = 0.014). Conclusion Controlled analyses from this large population-based cohort of male adolescents indicate that IQ scores are lower in male adolescents who smoke compared to non-smokers and in brothers who smoke compared to their non-smoking brothers. The IQs of adolescents who began smoking between ages 18,21 are lower than those of non-smokers. Adolescents with poorer IQ scores might be targeted for programmes designed to prevent smoking. [source]


Infant Symbolic Play as an Early Indicator of Fetal Alcohol-Related Deficit

INFANCY, Issue 6 2010
Christopher D. Molteno
Infant symbolic play was examined in relation to prenatal alcohol exposure and socioenvironmental background and to predict which infants met criteria for fetal alcohol syndrome (FAS) at 5 years. A total of 107 Cape-Colored, South African infants born to heavy drinking mothers and abstainers/light drinkers were recruited prenatally. Complexity of play, sociodemographic and psychological correlates of maternal alcohol use, and quality of parenting were assessed at 13 months, and intelligence quotient and FAS diagnosis at 5 years. The effect of drinking on spontaneous play was not significant after control for social environment. In contrast, prenatal alcohol and quality of parenting related independently to elicited play. Elicited play predicted 5-year Digit Span and was poorer in infants subsequently diagnosed with FAS/partial FAS and in nonsyndromal heavily exposed infants, compared with abstainers/light drinkers. Thus, symbolic play may provide an early indicator of risk for alcohol-related deficits. The independent effects of prenatal alcohol and quality of parenting suggest that infants whose symbolic play is adversely affected by alcohol exposure may benefit from stimulation from a responsive caregiver. [source]


A case of nevus comedonicus syndrome associated with neurologic and skeletal abnormalities

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2001
Young-Joon Seo MD
A 12-year-old male was referred to us with recurrent pus discharge from tender nodules on the right axilla dating from the neonatal period. The nodules were black, characterized by scarring with dilated follicular openings and there were black papules filled with comedo-like keratin plugs in both axillae. Physical examination revealed a bowing deformity of the right third finger and retardation in language ability. The patient was referred to the Departments of Neurology and Orthopedics in Chungnam National University Hospital, Korea. Histologic examination of one of the black comedo-like lesions showed a bulbous and dilated infundibulum that contained laminated keratin, indicating a diagnosis of nevus comedonicus. A CT scan of the brain revealed dysgenesis of the corpus callosum. The IQ (intelligence quotient) score of the patient, measured by the Korean Wechsler Intelligence Scale for Children-Revised, was 94. The only difficulty noted for ordinary life was learning language. A radiograph of the right hand revealed hyperextension and an ulnar drift deformity of the right middle finger. Corrective osteotomy with external fixation and an iliac bone autograft were performed. Intermittent neurologic follow-up visits were ordered for the noted language deficit. At present the patient only exhibits difficulty in calculation. Oral antibiotics were administered to the skin lesions on occasion for secondary infections and inflammation of the cysts and comedones. Extraction of the comedones was performed as needed. [source]


Anger and assaultiveness of male forensic patients with developmental disabilities: links to volatile parents

AGGRESSIVE BEHAVIOR, Issue 4 2008
Raymond W. Novaco
Abstract This study with 107 male forensic patients with developmental disabilities investigated whether exposure to parental anger and aggression was related to anger and assaultiveness in a hospital, controlling for background variables. Patient anger and aggression were assessed by self-report, staff-ratings, and archival records. Exposure to parental anger/aggression, assessed by a clinical interview, was significantly related to patient self-reported anger, staff-rated anger and aggression, and physical assaults in hospital, controlling for age, intelligence quotient, length of hospital stay, violent offense history, and childhood physical abuse. Results are consonant with previous findings concerning detrimental effects of witnessing parental violence and with the theory on acquisition of cognitive scripts for aggression. Implications for clinical assessment and cognitive restructuring in anger treatment are discussed. Aggr. Behav. 34:380,393, 2008. 2008 Wiley-Liss, Inc. [source]


Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 8 2010
C. Jacobson
Abstract Background The 22q11.2 deletion syndrome (22qDS) confers high risk for intellectual disability and neuropsychological/academic impairment, although a minority of patients show average intelligence. Intellectual heterogeneity and the high prevalence of psychiatric diagnoses in earlier studies may have obscured the prototypical neuropsychological profile in 22qDS. Methods We examined intelligence, memory, reading and mathematical processes in 31 children/adolescents with 22qDS, selected for educational underachievement and an absence of psychiatric diagnoses, using standardised, psychometrically matched instruments that specify how typical a score is for a given intelligence quotient (IQ). Results Corroborating earlier findings, verbal IQ was significantly superior to performance IQ; verbal memory and basic reading were relative strengths; and visual/spatial memory was a relative weakness. All four findings transcended performance characteristics that are typical of low-IQ individuals. Rote learning yielded the highest score; reading comprehension, numerical operations and mathematical reasoning were among the lowest-performed academic domains. Albeit in the expected direction, performance in the respective components could not be clearly differentiated from what is IQ-appropriate. Conclusions A superiority of verbal intelligence over non-verbal intelligence, relative strengths in verbal memory and basic reading, and a relative weakness in visual/spatial memory are likely to be core characteristics of children/adolescents with 22qDS, transcending performance features that are typical of individuals with low IQ. [source]


Postnatal corticosteroids and sensorineural outcome at 5 years of age

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 3 2000
The Victorian Infant Collaborative Study Group
Background: Postnatal corticosteroids reduce ventilator dependence in preterm infants, but possible long-term benefits for either survival or sensorineural morbidity are not proved. Aim: The aim of this study was to determine the association between corticosteroid therapy given postnatally and sensorineural outcome in childhood. Subjects: The subjects comprised 346 consecutive livebirths either of birthweight < 1000 g or with gestational age < 28 weeks born in the state of Victoria during 1991 and 1992, and who survived the first week after birth; 120 (34.7%) were given corticosteroids postnatally. Results: Of the 120 children who received corticosteroids, 98 (81.7%) survived to 5 years of age, compared with 200 (88.5%) of the 226 children who did not receive corticosteroids. At 5 years of age, survivors treated with corticosteroids postnatally had significantly higher rates of cerebral palsy (corticosteroids 23%, no corticosteroids 4%), blindness (corticosteroids 4%, no corticosteroids 1%) or an intelligence quotient more than one standard deviation below the mean (corticosteroids 54%, no corticosteroids 32%) compared with children not treated with corticosteroids. The rate of sensorineural disabilities imposed by these impairments was significantly higher in children treated with postnatal corticosteroids, and the association between adverse sensorineural outcome and postnatal corticosteroids remained after adjustments for potentially confounding variables. In a separate case-control analysis of 60 children in each group, the rate of cerebral palsy remained significantly elevated (corticosteroids 22%, no corticosteroids 5%). Conclusion: Postnatal corticosteroid therapy is associated with substantial adverse sensorineural outcomes at 5 years of age. [source]


Developing an Economic IQ in Primary Care

JOURNAL OF THE AMERICAN ACADEMY OF NURSE PRACTITIONERS, Issue 1 2002
Elizabeth Abel PhD, FAANP, RNC-FNP
Purpose To describe elements of an economic intelligence quotient (IQ) that can be used to enhance the nurse practitioner's (NP) fiscal viability in a primary care setting. Data Sources Anecdotal data from providers and administrators; clinical experiences of the authors; scientific and government publications and guidelines. Conclusions In the United States, managed care cost-containment initiatives have led to competition among physicians and NPs for patients and jobs. An understanding of the economic base of a practice is essential to fiscal viability in this market. Practice Implications When turf and job competition are the norm, it is essential that the NP develop an economic IQ. Knowledge of coding, billing, reimbursement, and documentation are critical to identifying the NP's value to the practice and promoting job retention. The challenge is for the NP to give high-quality, cost-effective, and safe patient care and to be a productive provider. [source]


Transplantation and Mental Retardation: What Is the Meaning of a Discrimination?

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 4 2010
N. Panocchia
The issue of transplantation for patients affected by mental retardation (MR) has been and continues to be a matter of discussion. The recent policy of the Veneto region, a highly populated area in northern Italy, indicates that patients with MR are not eligible for any transplant of solid organs, indicating intelligence quotient (IQ) <50 as absolute and IQ <70 as a relative exclusion criteria. In the present study, we review current conceptualizations of MR, along with the current knowledge on transplantation in this population. Finally, we will review the international guidelines on this matter and discuss the social, ethical and political significance of such policy, arguing that it discriminates persons affected by MR. [source]


Assessment of Psychoeducational Outcomes After Pediatric Liver Transplant

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 2 2009
S. Gilmour
Outcomes research in pediatric liver transplant (LT) has focused on mortality and morbidity but there is a need to also evaluate functional outcomes. Standardized cognitive testing was administered to a cohort of children with infantile chronic liver disease who were transplanted at the University of Alberta during their preschool years. Thirty children had comprehensive assessments with the Bayley Scales of Infant Development or Wechsler testing. Patient variables potentially associated with cognitive delay were analyzed with multiple regression analysis. The mean DQ/IQ score (developmental quotient/intelligence quotient) was 81 17. Delay (DQ/IQ score < 70), and borderline delay (DQ/IQ 70,84) were each present in 27% of the cohort, with only 46% demonstrating normal cognition. Regression analysis demonstrated that the decreased IQ was associated with pretransplant growth retardation and elevated calcineurin inhibitor levels. Performance IQ had strong correlation with pretransplant growth retardation and elevated serum ammonia, R2= 45%, compared to verbal IQ that was associated was elevated calcineurin inhibitor levels, R2= 23%. Children post-LT are at high risk for cognitive delay or borderline delay. This is the first study to demonstrate the association calcineurin inhibitors with impaired IQ and also the unique finding of different variables predictive of impaired verbal intelligence quotient (VIQ) versus performance intelligence quotient (PIQ). [source]


Erythropoietin improves neurodevelopmental outcome of extremely preterm infants

ANNALS OF NEUROLOGY, Issue 5 2010
Achim-Peter Neubauer MD
Objective Erythropoietin has been reported to possess neuroprotective properties in animal studies. No previous studies have investigated the neurodevelopmental outcome of extremely low birth weight (ELBW) infants treated with recombinant human erythropoietin (rEpo) and evaluated it at school age. Methods Of 200 ELBW infants treated from 1993 to 1998, 171 (86%) survived, and 148 (87%) were followed up to the age of 10 to 13 years. The neurodevelopmental and school outcome of the ELBW infants receiving rEpo treatment for stimulation of erythropoiesis in the first weeks of life (n = 89) was compared to that of untreated children (n = 57). To test for a neuroprotective effect of erythropoietin therapy, analyses of variance (ANOVAs) were conducted with erythropoietin treatment and intraventricular hemorrhage (IVH) as independent variables and Hamburg-Wechsler Intelligence Test for Children-III (HAWIK-III) intelligence quotient (IQ) scores as dependent variables. Results The rEpo group scored significantly better than untreated children in the overall developmental assessment (55% vs 39% normally developed, p < 0.05) as well as in the psychological examination (mean composite HAWIK-III IQ score, 90.8 vs 81.3, p < 0.005). The results of ANOVAs show that these differences were ascribable to children with IVH. Whereas those children with IVH treated with rEpo scored significantly better than untreated children (52% vs 6% normally developed, composite HAWIK-III IQ score, 90.3 vs 67.0), treated and untreated children without IVH did not differ in their outcome. The treatment and control groups were comparable in perinatal parameters relevant to prognosis. Interpretation The results of our observational study confirm the hypothesis of a neuroprotective effect of rEpo in ELBW infants with IVH. This offers a promising preventative therapeutic option for the treatment of these high-risk infants. ANN NEUROL 2010;67:657,666 [source]


Cognition, reserve, and amyloid deposition in normal aging

ANNALS OF NEUROLOGY, Issue 3 2010
Dorene M. Rentz PsyD
Objective To determine whether amyloid deposition is associated with impaired neuropsychological (NP) performance and whether cognitive reserve (CR) modifies this association. Methods In 66 normal elderly controls and 17 patients with Alzheimer disease (AD), we related brain retention of Pittsburgh Compound B (PiB) to NP performance and evaluated the impact of CR using education and American National Adult Reading Test intelligence quotient as proposed proxies. Results We found in the combined sample of subjects that PiB retention in the precuneus was inversely related to NP performance, especially in tests of memory function, but also in tests of working memory, semantic processing, language, and visuospatial perception. CR significantly modified the relationship, such that at progressively higher levels of CR, increased amyloid deposition was less or not at all associated with poorer neuropsychological performance. In a subsample of normal controls, both the main effect of amyloid deposition of worse memory performance and the interaction with CR were replicated using a particularly challenging memory test. Interpretation Amyloid deposition is associated with lower cognitive performance both in AD patients and in the normal elderly, but the association is modified by CR, suggesting that CR may be protective against amyloid-related cognitive impairment. ANN NEUROL 2010;67:353,364 [source]


Mosaicism and phenotype in ring chromosome 20 syndrome

ACTA NEUROLOGICA SCANDINAVICA, Issue 3 2005
T. Nishiwaki
Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder characterized by epilepsy, mild to moderate mental impairment, and malformation. Patients generally show mosaicism in 1,100% of lymphocytes with r(20). We report here a patient with r(20) syndrome who exhibited mild phenotype with the small ratio of mosaicism (13%) with r(20). Although previous small-scale studies concluded that the mosaicism ratio was unrelated to clinical phenotype, our reassessment of all 57 reported cases has revealed that the ratio is significantly associated with age at seizure onset, intelligence quotient, and malformation, but not with the response of epilepsy to drug treatment. Our results provide important clinical information and prediction for r(20) syndrome. [source]


Predictors of seizure outcome after temporal lobectomy for intractable epilepsy

ACTA NEUROLOGICA SCANDINAVICA, Issue 4 2004
K. Stavem
Objectives , To assess predictors of outcome of temporal lobectomy for intractable epilepsy. Material and methods , In 63 adult patients operated with anterior temporal lobectomy during 1988,92, we used logistic regression analysis to assess predictors of being seizure-free (Engel's class I) 2 years after surgery. As potential predictors, we included the following variables: gender, age at operation, age at onset of seizures, epilepsy duration, etiology, generalized vs not generalized seizures, seizure frequency, intelligence quotient, ictal electroencephalography, magnetic resonance imaging (MRI), single-photon emission computed tomography (SPECT), side of resection, and extent of the resection. Results , About 44% of the surgery patients were seizure-free (Engel's class I) 2 years after surgery. In multivariate analysis (n = 55), MRI pathology defined as atrophy in the temporal lobe, angioma, tumor or mesial temporal sclerosis (odds ratio, OR 7.4, 95%CI: 1.7,32.9) and extent of the hippocampal resection (increase of 1 cm) (OR 2.2, 95%CI: 1.1,4.6) predicted being seizure-free. Conclusion , Focal pathology in preoperative MRI and the extent of the hippocampal resection were the only significant predictors of being seizure-free after 2 years. [source]


Follow-up of adolescents born extremely preterm: cognitive function and health at 18 years of age

ACTA PAEDIATRICA, Issue 9 2010
Anne-Li Hallin
Abstract Aim:, To compare cognitive ability, school achievement and self-perceived health aspects in adolescents born extremely preterm and term born controls. Method:, Fifty-two, out of 61, extremely preterm born adolescents (mean age 18.4 years) and 54 matched controls (mean age 18.3 years) born at full term were investigated; intelligence quotient was measured with the Wechsler Adult Intelligence Scale; cognitive flexibility, i.e. a measure of visuomotor speed and attention, with the Trail Making Test; school achievement and choice of upper secondary programmes were reported. Health aspects were investigated in a semi structured interview. Result:, The adolescents born prematurely had significantly lower IQ than the controls, mean 93 (SD 15.4) vs 106 (12.5), p < 0.001; showed slower visuomotor speed; had lower grades from compulsory school (192.7 vs 234.8, p < 0.001); and chose to a greater extent practical upper secondary school programmes. There were no differences between the groups in health care consumption, prevalence of chronic disease, allergy or infectious diseases. Conclusion:, Poorer cognitive performance, in extremely preterm born individuals, seems to persist into late adolescence. Fewer prematurely born than control chose theoretical upper secondary school programmes. However, no difference was noted regarding self-perceived health aspects. [source]


Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene

CLINICAL GENETICS, Issue 2 2007
LCP Govaerts
Fragile X (FRAX) syndrome is a commonly inherited form of mental retardation resulting from the lack of expression of the fragile X mental retardation protein (FMRP). It is caused by a stretch of CGG repeats within the fragile X gene, which can be unstable in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, the FMR1 gene is methylated and no protein is produced resulting in the fragile X phenotype. The consequences of FMRP absence in the mechanisms underlying mental retardation are unknown. We have identified a male patient in a classical FRAX family without the characteristic FRAX phenotype. His intelligence quotient (IQ) is borderline normal despite the presence of a mosaic pattern of a pre-mutation (25%), full mutation (60%) and a deletion (15%) in the FMR1 gene. The cognitive performance was determined at the age of 28 by the Raven test and his IQ was 81. However, FMRP expression studies in both hair roots and lymphocytes, determined at the same time as the IQ test, were within the affected male range. The percentage of conditioned responses after delay eyeblink conditioning was much higher than the average percentage measured in FRAX studies. Moreover, this patient showed no correlation between FMRP expression and phenotype and no correlation between DNA diagnostics and phenotype. [source]


Cognitive profile in a large french cohort of adults with Prader,Willi syndrome: differences between genotypes

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 3 2010
P. Copet
Abstract Background Prader,Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual delay, learning disabilities and maladaptive behaviours. PWS is caused by a lack of expression of maternally imprinted genes situated in the 15q11-13 chromosome region. The origin is a ,de novo' deletion in the paternal chromosome in 70% of the cases and a maternal uniparental disomy in 25%. The two main genotypes show differences, notably regarding cognitive and behavioural features, but the mechanisms are not clear. This study assessed cognitive impairment in a cohort of adults with genetically confirmed PWS, analysed their profiles of cognitive strengths and weaknesses, and compared the profiles in terms of genotype. Methods Ninety-nine male and female adults participated, all inpatients on a specialised unit for the multidisciplinary care of PWS. The Wechsler Adult Intelligence Scale (WAIS-III) was administered to all patients in identical conditions by the same psychologist. Eighty-five patients were able to cope with the test situation. Their scores were analysed with non-parametric statistical tools. The correlations with sex, age and body mass index were explored. Two genotype groups were compared: deletion (n = 57) and non-deletion (n = 27). Results The distribution of intelligence quotients in the total cohort was non-normal, with the following values (medians): Full Scale Intelligence Quotient (FSIQ): 52.0 (Q1:46.0; Q3:60.0), Verbal Intellectual Quotient (VIQ): 53.0 (Q1:48; Q3:62) and Performance Intellectual Quotient (PIQ): 52.5 (Q1:48; Q3:61). No correlation was found with sex, age or body mass index. Comparison between groups showed no significant difference in FSIQ or VIQ. PIQ scores were significantly better in the deletion group. The total cohort and the deletion group showed the VIQ = PIQ profile, whereas VIQ > PIQ was observed in the non-deletion group. The subtest scores in the two groups showed significant differences, with the deletion group scoring better in three subtests: object assembly, picture arrangement and digit symbol coding. Some relative strengths and weaknesses concerned the total cohort, but others concerned only one genotype. Discussion We documented a global impairment in the intellectual abilities of a large sample of French PWS patients. The scores were slightly lower than those reported in most other studies. Our data confirmed the previously published differences in the cognitive profiles of the two main PWS genotypes and offer new evidence to support this hypothesis. These results could guide future neuropsychological studies to determine the cognitive processing in PWS. This knowledge is essential to improve our understanding of gene-brain-behaviour relationships and to open new perspectives on therapeutic and educational programmes. [source]


Assessment of Psychoeducational Outcomes After Pediatric Liver Transplant

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 2 2009
S. Gilmour
Outcomes research in pediatric liver transplant (LT) has focused on mortality and morbidity but there is a need to also evaluate functional outcomes. Standardized cognitive testing was administered to a cohort of children with infantile chronic liver disease who were transplanted at the University of Alberta during their preschool years. Thirty children had comprehensive assessments with the Bayley Scales of Infant Development or Wechsler testing. Patient variables potentially associated with cognitive delay were analyzed with multiple regression analysis. The mean DQ/IQ score (developmental quotient/intelligence quotient) was 81 17. Delay (DQ/IQ score < 70), and borderline delay (DQ/IQ 70,84) were each present in 27% of the cohort, with only 46% demonstrating normal cognition. Regression analysis demonstrated that the decreased IQ was associated with pretransplant growth retardation and elevated calcineurin inhibitor levels. Performance IQ had strong correlation with pretransplant growth retardation and elevated serum ammonia, R2= 45%, compared to verbal IQ that was associated was elevated calcineurin inhibitor levels, R2= 23%. Children post-LT are at high risk for cognitive delay or borderline delay. This is the first study to demonstrate the association calcineurin inhibitors with impaired IQ and also the unique finding of different variables predictive of impaired verbal intelligence quotient (VIQ) versus performance intelligence quotient (PIQ). [source]