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PubMed2003

Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

The case of a 15-year-old male with Angelman syndrome, paternal uniparental disomy of chromosome 15, and a small supernumerary marker chromosome is discussed. Assessment of cognitive functioning revealed an uneven profile of ability across different domains; in particular, receptive language ability was found to be superior to expressive language ability, whilst both gross and fine motor skills were found to be relatively well developed. Assessment using the Autism Diagnostic Observation Schedule showed very little evidence of autistic symptomatology. The patient showed an interest in social interaction and used a variety of methods to communicate, including some gestures and several single words. A clinical history revealed febrile convulsions during childhood but an absence of seizures in the previous 5 years. The patient was not hypopigmented, and height, weight, and head circumference were within the normal range for his age. The implications of these features are discussed in the context of previous work describing a milder phenotype in nondeletion cases of Angelman syndrome and work that has examined the prevalence of autism spectrum disorders amongst individuals with Angelman syndrome.

Adolescent↗

PubMed2000

Signs of impaired cognitive function in adolescents with marginal cobalamin status.

BACKGROUND: Lack of cobalamin may lead to neurologic disorders, which have been reported in strict vegetarians. OBJECTIVE: The objective of this study was to investigate whether cognitive functioning is affected in adolescents (aged 10-16 y) with marginal cobalamin status as a result of being fed a macrobiotic diet up to an average age of 6 y. DESIGN: Data on dietary intake, psychological test performance, and biochemical variables of cobalamin status were collected from 48 adolescents who consumed macrobiotic (vegan type) diets up to the age of 6 y, subsequently followed by lactovegetarian or omnivorous diets, and from 24 subjects (aged 10-18 y) who were fed omnivorous diets from birth onward. Thirty-one subjects from the previously macrobiotic group were cobalamin deficient according to their plasma methylmalonic acid concentrations. Seventeen previously macrobiotic subjects and all control subjects had normal cobalamin status. RESULTS: The control subjects performed better on most psychological tests than did macrobiotic subjects with low or normal cobalamin status. A significant relation between test score and cobalamin deficiency (P: = 0.01) was observed for a test measuring fluid intelligence (correlation coefficient: -0.28; 95% CI: -0.48, -0.08). This effect became more pronounced (P: = 0.003) within the subgroup of macrobiotic subjects (correlation coefficient: -0.38; 95% CI: -0.62, - 0.14). CONCLUSION: Our data suggest that cobalamin deficiency, in the absence of hematologic signs, may lead to impaired cognitive performance in adolescents.

Adolescent↗

PubMed1991

Hypoglycaemic episodes during intensified insulin treatment: increased frequency but no effect on cognitive function.

Ninety-seven patients with insulin dependent diabetes mellitus (IDDM) were randomized to intensified conventional treatment (ICT, n = 44) or regular treatment (RT, n = 53). The mean HbA1c level (+/- SEM) was reduced from 9.5 +/- 0.2% to 7.4 +/- 0.1% in the ICT group (P less than 0.001), and from 9.4 +/- 0.2% to 9.0 +/- 0.2% (P less than 0.01) in the RT group. The difference between the groups was significant (P less than 0.001). During a period of 3 years, 57% of the ICT patients (95% confidence interval 44-73%) and 23% of the RT patients (95% CI, 11-34%) (P less than 0.001) had at least one episode of serious hypoglycaemia, with the need for third-party assistance or resulting in coma. Eighteen of the 32 ICT patients who initially had adrenergic symptoms during hypoglycaemia changed to predominantly neuroglycopenic symptoms. This was the case with only 8 of 38 RT patients (P less than 0.01). The change in symptoms was related to the increased frequency of serious hypoglycaemia, but neither symptoms nor frequency of hypoglycaemia bor any relationship to insulin dose, body mass index, duration of diabetes or autonomic nerve function. The results of several neuropsychological tests did not differ between the groups at baseline, and did not change during the study. There were no signs of deteriorating cognitive function in the patients with serious hypoglycaemic episodes.

Adult↗

PubMed1999

Cognitive functioning and impairment among rural elderly Hispanics and non-Hispanic whites as assessed by the Mini-Mental State Examination.

We conducted a cross-sectional study to determine the distribution of cognitive functioning as measured by the Mini-Mental State Examination (MMSE) among a sample of Hispanic and non-Hispanic White (NHW) residents from two counties in rural, southern Colorado. Residents aged 60 years and older (N = 1,360) were administered the full MMSE, a sociodemographic and medical interview. Protocols were developed to administer the MMSE equitably in both ethnic groups. Younger Hispanics tended to be categorized as severely impaired more than similarly aged NHWs (OR at age 70 = 4.14), however, older Hispanics and NHWs performed similarly after adjusting for education and gender (OR at age 90 = 1.00). The use of a modified MMSE scale that removed the ethnic bias demonstrated that NHWs and Hispanics had similar levels of severe impairment after full adjustment (OR = 0.93). Given the widespread use of the MMSE, these findings indicate the need for further validation of this instrument.

Aged↗

PubMed2005

Effects of cognitive function on functional decline among community-dwelling non-disabled older Japanese.

This study examined whether cognitive impairment, falls, and urinary incontinence (UI) were independent predictors of functional decline using a 2-year observation of a non-disabled older Japanese cohort living in a community from 1999 to 2001. A total of 139 men and 214 women aged 70-94 years at the baseline who were independent in both activities of daily living (ADL) and instrumental activities of daily living (IADL) were analyzed in this study. Independent variables, such as cognitive impairment, falls, UI, and other possible factors associated with functional decline were obtained from an interview survey at the baseline. A dependent variable was functional status in ADL and IADL obtained at the time of the 2-year follow-up. During the 2-year follow-up, cognitive function was a significant predictor for both IADL dependence and ADL and/or IADL dependence. Using a group of subjects with Mini Mental State Examination (MMSE) scores of 30-27 points as a reference group, a significant correlation was identified between lower MMSE scores and an increased odds ratio for functional decline. Lower cognitive function was a significant predictor of functional decline, even among those older Japanese whose cognitive function was deemed to be within the normal range.

Activities of Daily Living↗

PubMed2004

Influence of insulin-like growth factor-1 and hepatocyte growth factor on carotid atherosclerosis and cognitive function in the elderly.

OBJECTIVE: This study investigated the relationship between serum levels of two neurotrophic factors, insulin-like growth factor-1 (IGF-1) and hepatocyte growth factor (HGF), and carotid atherosclerosis and cognitive function in the elderly. METHODS: Serum levels of IGF-1 and HGF, carotid artery intima-media thickness (IMT), and Mini-Mental State Examination (MMSE) scores were determined in 60 subjects over 65 years old (35 patients with vascular dementia and 25 without dementia). RESULTS: In all subjects IGF-1 levels showed a significant positive correlation with the MMSE score (r = 0.262, p = 0.0427) and a negative correlation with the IMT (r = -0.284, p = 0.0277) and the HGF level (r = -0.422, p = 0.0007). HGF levels were significantly correlated with IMT (r = 0.259, p = 0.0455) and lipoprotein(a) levels (r = 0.279, p = 0.0372). Mean MMSE scores and IGF-1 levels were significantly lower in patients with vascular dementia than in the non-demented controls. Mean IMT and the frequency of atherosclerotic plaque in the carotid arteries as well as the serum levels of HGF, LDL cholesterol, lipoprotein(a) and lipid peroxides were significantly increased in the demented patients compared with the non-demented controls. CONCLUSION: A decrease of IGF-1 along with an increase of HGF may reflect an underlying biological process that influences cognitive decline as well as carotid atherosclerosis in the elderly.

Aged↗

PubMed1996

Psychopathology, social and cognitive functioning in a hostel for homeless women.

BACKGROUND: This study surveyed all residents in a hostel for homeless women. Demographic data, and information on past and present psychiatric and social morbidity, and current and premorbid cognitive functioning were collected. METHOD: A four week prevalence study, using: SCID-PD; a semi-structured interview; GHQ; SBS; Manchester Scale; MMSE; and NART; the data were analysed using SPSS. RESULTS: The women originated from across the social spectrum and disruption of early family life was common. Fifty per cent had a 'severe mental illness' and most were not receiving drug treatment. High levels of active psychotic symptoms were present. Women with psychosis had suffered a greater intellectual decline from their premorbid levels of functioning than those without psychosis. CONCLUSIONS: The study affirmed findings of earlier studies employing case-studies methodology. Women with high levels of psychiatric morbidity and social dysfunction were being managed by care workers in a way that may promote stability rather than a drift into street-life.

Adolescent↗

PubMed1991

Physostigmine in Alzheimer's disease: effects on cognitive functioning, cerebral glucose metabolism analyzed by positron emission tomography and cerebral blood flow analyzed by single photon emission tomography.

The effect of acute, intravenous administration of physostigmine on measures of brain activity and cognitive functioning were investigated in 14 patients with Alzheimer's disease. Regional cerebral glucose metabolism was assessed using (18F)-fluoro-2-deoxy-D-glucose and positron emission tomography, and cerebral blood flow was assessed using 123I-iodoamphetamine single photon emission tomography. Although physostigmine enhanced cerebral blood flow in most patients, only one patient showed significant clinical improvement. This patient, however, also showed a very pronounced improvement in cerebral glucose metabolism. It is concluded that these preliminary findings hold considerable promise for our appreciation of the pathophysiology of dementing illness as well as our understanding of centrally acting compounds of interest in Alzheimer's disease.

Aged↗

PubMed1997

Cognitive functions of cortical acetylcholine: toward a unifying hypothesis.

Previous efforts aimed at attributing discrete behavioral functions to cortical cholinergic afferents have not resulted in a generally accepted hypothesis about the behavioral functions mediated by this system. Moreover, attempts to develop such a unifying hypothesis have been presumed to be unproductive considering the widespread innervation of the cortex by basal forebrain cholinergic neurons. In contrast to previous descriptions of the role of cortical acetylcholine (ACh) in specific behavioral phenomena (e.g., mediation of the behavioral effects of reward loss) or mnemonic entities (e.g., working or reference memory), cortical ACh is hypothesized to modulate the general efficacy of the cortical processing of sensory or associational information. Specifically, cortical cholinergic inputs mediate the subjects' abilities to detect and select stimuli and associations for extended processing and to allocate the appropriate processing resources to these functions. In addition to evidence from electrophysiological and behavioral studies on the role of cortical ACh in sensory information processing and attention, this hypothesis is consistent with proposed functions of the limbic and paralimbic networks in regulating the activity of the basal forebrain cholinergic neurons. Finally, while the proposed hypothesis implies that changes in activity in cortical ACh simultaneously occur throughout the cortex, the selectivity and precision of the functions of cholinergic function is due to its coordinated interactions with the activity of converging sensory or associational inputs. Finally, the dynamic, escalating consequences of alterations in the activity of cortical ACh (hypo- and hyperactivity) on cognitive functions are evaluated.

Acetylcholine↗

PubMed1997

A study of cognitive functions in methyl-iso-cyanate victims one year after bhopal accident.

There is a paucity of information regarding the late effects of methyl-iso-cyanate (MIC) poisoning. In this study, the clinical and cognitive functions of 52 MIC victims were evaluated one year after the Bhopal gas accident. There were 15 severely, 14 moderately, and 23 mildly affected patients. Their mean age was 38.2 (range 15-65) years and 30 patients were males. Their clinical picture was dominated by respiratory symptoms in 36 patients, of which 17 had abnormal chest radiographs. Neurological examination of these patients was normal. Psychometry in 33 patients revealed significant impairment of standard progressive matrices (SPM), associate learning and motor speed and precision tests (p < 0.01) in severely exposed MIC patients. In the moderately affected group associate learning and motor speed and precision were significantly impaired. Motor speed and precision tests had significant positive correlation with eye signs (r = 0.42) and disability score (r = 0.68). Our results suggest significant cognitive impairment in severely exposed MIC victims.

Accidents, Occupational↗

PubMed2006

Effects of changes in hemoglobin level on quality of life and cognitive function in inflammatory bowel disease patients.

BACKGROUND: Anemia commonly complicates inflammatory bowel disease (IBD). In patients with chronic renal failure, the treatment of anemia with iron+/-erythropoietin improves both quality of life (QOL) and cognitive function (CF). The same drugs are effective in treating severe anemia in IBD, but there is no evidence to direct the treatment of mild anemia. Concern exists that the use of iron may exacerbate inflammation in patients with IBD. The present study examined the association between changes in hemoglobin (Hb) in a population of IBD patients and changes in QOL and CF independent of change in disease activity (DA). Subsidiary aims were to assess whether the use of iron was associated with worsening DA. METHODS: A cohort of 50 patients with IBD (29 Crohn's disease and 21 ulcerative colitis) took part. Iron replacement was given to 21 patients with low Hb. Measures of QOL, CF, DA, and Hb were recorded at baseline and at 6 months. RESULTS: The iron-treated group had lower Hb and higher DA scores compared with the non-iron-treated group at baseline. In a hierarchical regression model, changes in DA accounted for 13% (P=0.17) and changes in Hb accounted for 18% (P=0.005) of the variance in change in SF-36 and 12% (P=0.23) and 17% (P=0.009) in the Inflammatory Bowel Disease Questionnaire. In this pilot study, although no associations were identified between changes in Hb or DA and CF, increases in Hb improved QOL scores in IBD patients independent of changes in DA. We found no similar effect with CF, but again, the sample size was small. We found no evidence that iron therapy causes worsening of DA. CONCLUSIONS: Treatment of IBD-associated anemia with iron may lead to improvement in patients' QOL.

Anemia, Iron-Deficiency↗

PubMed2005

Cognitive functioning in siblings discordant for schizophrenia.

OBJECTIVE: The objective of this study was to investigate neuropsychological impairment as a genetically mediated risk indicator for schizophrenia while accounting for prevalence of schizotypy signs/symptoms in siblings. METHOD: Cognitive functioning in 25 individuals with schizophrenia, 25 unaffected siblings and 25 unrelated healthy controls, was assessed using neuropsychological tests of sustained attention, memory and learning, executive function, visual-spatial ability and psychomotor performance. RESULTS: Unaffected siblings demonstrated better performance than patients on some measures of memory and learning and executive function. Patients and siblings demonstrated impaired Full Scale IQ and verbal fluency, otherwise siblings performed similarly to healthy controls. Controlling for differences in IQ, the shared deficit in verbal fluency disappeared. CONCLUSION: Patients with schizophrenia and unaffected siblings (without schizotypy personality disorder) shared a neuropsychological deficit in verbal fluency. This deficit appeared to be mediated by IQ. Deficits, which differentiated patients from controls, may not be inherited and perhaps are related to the manifestation or treatment of schizophrenia.

Adult↗

PubMed1987

Cognitive functioning in albino children.

Twelve albino children with IQs in the normal range were psychometrically assessed and compared to a control group of equally visually handicapped children who were non-albino. A striking and consistent pattern of cognitive functioning emerged in the albino group (a large verbal/performance discrepancy in favour of verbal skills) which could not be attributed to their poor visual acuity. This unusual pattern of intellectual functioning may be related to the unique neuroanatomy and neurophysiology recently demonstrated in people with albinism.

Adolescent↗

PubMed1996

Executive cognitive functioning and aggressive behavior in preadolescent boys at high risk for substance abuse/dependence.

OBJECTIVE: This study had three purposes; (1) to assess the underlying factor structure of a battery of neuropsychological tests putatively measuring executive cognitive functioning (ECF) in a sample of boys at high and low risk for substance abuse/dependence; (2) to assess the relationship between ECF and aggressive behavior; and (3) to determine the interactive effects of ECF and a family history (FH) of substance dependence on aggressive behavior. METHOD: Multiple measures of ECF and aggressive behavior were used to test these relationships in a sample of 291 10-12 year old boys with and without a FH of substance dependence. RESULTS: Analyses indicated that the measures of ECF loaded on one factor. ECF was related to aggressive behavior even when accounting for IQ and SES. The interaction between ECF and a FH of substance dependence was also associated with aggressive behavior. CONCLUSIONS: The central finding of this investigation indicates that ECF and its interaction with a FH of substance dependence are associated with aggressive behavior. These results suggest that violence prevention and treatment efforts in high risk groups should incorporate cognitive habilitation focusing on training in ECFs.

Adolescent↗

PubMed1996

Association of serum cholesterol and triglyceride levels with agitation and cognitive function in a geropsychiatry unit.

Several studies have reported an association between aggression and cholesterol levels. The purpose of this study was to investigate the relationship of serum cholesterol and triglyceride levels with aggression and cognitive function in elderly inpatients. One hundred ten patients consecutively admitted to the Geriatric Psychiatry inpatient unit at Houston's Veterans Affairs Hospital received comprehensive evaluations by a multidisciplinary team. Fasting serum cholesterol and triglyceride levels were obtained within 3 days of admission. In addition, two geriatric psychiatrists administered the Mini-Mental State Examination (MMSE) and the Cohen-Mansfield Agitation Inventory (CMAI). Correlation coefficients were calculated between lipid levels, CMAI total and subscale scores, and MMSE scores. Multiple linear-regression analyses were done to further investigate the relation between lipid concentrations and various confounders. We found no significant correlation between serum triglyceride levels and MMSE, CMAI total, and CMAI factor scores. In addition, we found a significant positive correlation between serum cholesterol levels and physical nonaggressive behavior, and a significant negative correlation between serum cholesterol levels and MMSE scores. We found no relationship between aggressive behavior and serum cholesterol or triglyceride levels. However, an association between high cholesterol levels and agitation exists, which may be mediated by the association between high cholesterol levels and impaired cognition.

Aged↗

PubMed2001

The acute and sub-chronic effects of levocetirizine, cetirizine, loratadine, promethazine and placebo on cognitive function, psychomotor performance, and weal and flare.

AIM: To compare the central and peripheral H1 inhibitory effects of acute and sub-chronic doses of levocetirizine (L-CTZ), cetirizine (CTZ), loratadine (LOR) and promethazine (PRM) versus placebo, using a battery of psychomotor and cognitive tests together with measures of the weal and flare reaction. PRM was included in the study as a positive internal control to validate the sensitivity of the psychometric test battery to the CNS effects of the various treatments. METHODS: Twenty healthy volunteers (18-50 years) received L-CTZ 5mg, CTZ 10 mg, LOR 10 mg, PRM 30 mg and placebo once daily for four days in a five-way, double-blind, crossover study. For each treatment condition, subjects were assessed using a psychometric test system and a pinprick weal and flare response to 100 mg/ml histamine solution at baseline and at 1, 2, 3 ,4, 6, 8, 10 and 122 hours post-dose on days 1 and 4. The psychometrics comprised critical flicker fusion (CFF), choice reaction time (CRT), a continuous tracking task (CTT) and subjective rating scales for sedation (LARS). On days 2 and 3, subjects took their medication at pre-designated times while out of the unit. RESULTS: The verum (PRM) established the sensitivity of the test battery: a significant overall reduction in CFF thresholds on both days 1 and 4 (p < 0.05); an overall significant increase (impairment) in recognition, motor and total reaction times on day 1 (p < 0.05); a significant impairment of both the tracking accuracy and reaction time aspects of the CTT task on day 1 (p < 0.005) and significantly higher ratings of subjective sedation on day 1 (p < 0.05). L-CTZ, CTZ and LOR were not distinguishable from placebo in any of the objective and subjective tests at any time point on either day 1 or day 4. With regards to the peripheral inhibitory effects, L-CTZ inhibited both the weal and flare reaction, with maximum inhibition (almost 100%) occurring within two hours of drug ingestion. CTZ also showed evidence of potent peripheral inhibition of histamine, whereas PRM, and especially LOR, showed only a weak weal and flare reaction which had completely attenuated at day 4. CONCLUSIONS: In a study where the psychometric assessments were shown to be sensitive to impairment, L-CTZ 5 mg was found following both initial and repeated doses, but also to be demonstrably free from disruptive and sedative effects on objective measures of psychomotor and cognitive function. Similarly, CTZ showed evidence of pronounced antihistaminic activity and significantly reduced weal and flare scores after both acute and repeated doses, again without evidence of cognitive or psychomotor impairment. LOR also was non-sedative but the antihistaminic reaction was demonstrably weak.

Adult↗

PubMed1997

A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine.

Existing longitudinal data on patients with classical galactosaemia suggests that neurocognitive functioning is impaired and, in isolated case reports, may show a decline in performance over time. The present study explored whether there are long-term changes in cognitive abilities in patients with galactosaemia and whether oral uridine can improve neurocognitive performance. Thirty-five patients (18 males, 17 females), 29 of whom received oral uridine powder at 150 mg/kg per day (divided dose, three times daily), were evaluated over a 2-5-year period with the Woodcock-Johnson Revised Cognitive Abilities Test, three academic achievement tests, and the Beery Test of Visual Motor Integration. Results showed that the uridine cohort and a comparison group that received only dietary restriction made small gains in cognitive performance over the treatment period and the size of the gains did not differ significantly. Seven subjects who started uridine prior to the age of 14 months did not differ significantly in their cognitive test scores at an average age of 3.5 years from a group of older children who had begun treatment at 4.5 years of age. These results provide no support for any developmental or uridine-treatment-related change in cognitive functioning for this sample of galactosaemic subjects.

Achievement↗

PubMed1995

Neurophysiologic studies and cognitive function in congenital hypothyroid children.

Minor neurologic and intellectual impairments have been described in some congenital hypothyroid (CH) children in spite of early detection by neonatal screening. The aim of our study was to assess cognitive functions as well as neurophysiologic parameters in hypothyroid children and to compare children detected by neonatal screening (group A) versus hypothyroid patients clinically diagnosed before the beginning of the screening program (group B). Group A consisted of 15 children (13 girls, mean age at the beginning of treatment 33 d). Group B consisted of 11 patients (7 girls, mean age at the start of treatment 10.1 mo). Twenty age-matched healthy children were studied as a control group for neurophysiologic tests. Neurophysiologic tests (Auditory P 300, long latency somatosensory evoked potentials (LL-SEP) were performed along with IQ evaluation. Abnormalities of neurophysiologic tests were detected in 82% of clinically diagnosed hypothyroid children. Surprisingly, 47% of the children detected by neonatal screening, having normal mental development index, showed at least one abnormal neurophysiologic test. LL-SEP latencies were found significantly increased in both groups of CH patients compared with controls. Our data are suggestive for a prenatal or perinatal CNS damage in some children with congenital hypothyroidism, despite early treatment.

Case-Control Studies↗