Executive functions in young males with fragile X syndrome in comparison to mental age-matched controls: Baseline findings from a longitudinal study.

The performance of 54 boys with fragile X syndrome (FXS), ages 7 to 13 years, was compared to that of a group of typically developing boys who were matched on mental age (MA) and ethnicity across multiple measures of executive function (EF). Boys with FXS varied in their ability to complete EF measures, with only 25.9% being able to complete a set-shifting task and 94.4% being able to complete a memory for word span task. When compared to the control group, and controlling for MA and maternal education, boys with FXS showed significant deficits in inhibition, working memory, cognitive flexibility/set-shifting, and planning. No group differences were observed in processing speed. Mental age significantly impacted performance on working memory, set-shifting, planning, and processing speed tasks for both groups. In boys with FXS, MA significantly predicted performance on working memory and set-shifting tasks. Our findings suggest that deficits in EF in boys with FXS are not solely attributable to developmental delays but, rather, present as a true array of neurocognitive deficits. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Mental health problems of homeless children and families: longitudinal study

OBJECTIVE: To establish the mental health needs of homeless children and families before and after rehousing. DESIGN: Cross sectional, longitudinal study. SETTING: City of Birmingham. SUBJECTS: 58 rehoused families with 103 children aged 2-16 years and 21 comparison families of low socioeconomic status in stable housing, with 54 children. MAIN OUTCOME MEASURES: Children's mental health problems and level of communication; mothers' mental health problems and social support one year after rehousing. RESULTS: Mental health problems remained significantly higher in rehoused mothers and their children than in the comparison group (mothers 26% v 5%, P = 0.04; children 39% v 11%, P = 0.0003). Homeless mothers continued to have significantly less social support at follow up. Mothers with a history of abuse and poor social integration were more likely to have children with persistent mental health problems. CONCLUSIONS: Homeless families have a high level of complex needs that cannot be met by conventional health services and arrangements. Local strategies for rapid rehousing into permanent accommodation, effective social support and health care for parents and children, and protection from violence and intimidation should be developed and implemented.     

Ovarian function in fragile X carriers

Based the study of the theory of protrusive balanced occlusion in complete denture construction and clinical experience the author established a new simplified theory named "the three principle factors and three laws for protrusive balanced occlusion in complete denture" to guide us to arrange teeth for balanced occlusion in complete denture construction. Based this theory the phenomena of protrusive occlusal disharmony appeared in the process of teeth arrangement and denture insertion can be corrected easily.     

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

A number of recent studies have found non-random association between the fragile X mutation and genotypes for the closest-linked flanking markers, suggesting either a limited number of 'founder' mutations or, alternatively, a predisposing haplotype for the fragile X expansions. Using three microsatellite markers within 150 kb of FRAXA, we have compared haplotypes in a series of fragile X males and in a control population and find a markedly different distribution in the two samples, with apparently greater haplotype diversity in the fragile X sample. In the control sample, various non-random associations of CGG repeat numbers with flanking haplotypes were recorded which provide a clue to the likely origins of the fragile X mutation, suggesting more than one mechanism for the initial expansion event.     

Bilateral macular dysplasia in fragile X syndrome

PURPOSE: Few studies have investigated the eye and vision dysfunctions of children with the fragile X syndrome. CASE REPORT: We report on a preschool boy with bilateral macular dysplasia and fragile X syndrome. His ocular features and phenotypic and genetic expressions are described. His mentally normal mother was identified as an expansion mutation carrier, and his older sister has learning disabilities, astigmatic refractive error, squint, and mild ptosis. Intrauterine infection has been excluded. CONCLUSION: To our knowledge, the association of macular dysplasia with fragile X syndrome has not been reported. The finding of macular dysplasia might be a coincidental developmental disorder and not a part of the syndrome. It could be considered a condition causing visual deficit with nystagmus in fragile X syndrome.     

Changes in maximal exercise ventilation and breathing pattern in boys during growth: a mixed cross-sectional longitudinal study

The aim of this mixed cross-sectional longitudinal study covering a total age range of 11-17 years, i.e. the entire pubertal growth period, was (1) to specify the changes in maximal breathing pattern during incremental exercise; (2) to determine what parts of the changes are due to anthropometric characteristics, physical fitness and inspiratory or expiratory muscle strength; and (3) to determine if the role of these variables is identical before, during and after pubertal growth spurt. This study was conducted in 44 untrained schoolboys separated into three groups, with an initial age of 11.2 +/- 0.2 years for group A, 12.9 +/- 0.25 years for group B, and 14.9 +/- 0.26 years for group C. These children were subsequently followed for 3 years, during the same time period each year. The maximal inspiratory and expiratory pressures (PI max and PE max) were used as an index of the respiratory muscle strength. During an incremental exercise test, maximal ventilation (VE max), tidal volume (VT max), breathing frequency (fmax), inspiratory and expiratory times (tI max and tE max) and mean inspiratory flow (VT/tI max) were measured at maximal oxygen uptake (VO2max). Our study showed that there was a marked increase with age in VE max, VT max, and VT/tI max, and no significant changes in fmax, tI max and tE max. PI max and PE max showed a general trend towards an increase between 11 and 17 years. The study of the linear correlations between maximal breathing pattern and the anthropometric characteristics, physical fitness and inspiratory or expiratory muscle strength showed that, in the three groups of children, (1) lean body mass was the major determinant of VE max, VT max and VT/tI max and the relationships were significantly different before, during and after the pubertal growth spurt; (2) physical fitness was the main determinant of tI max, tE max and fmax before and after the pubertal growth spurt; and (3) maximal respiratory strength did not play a significant role. In conclusion, this mixed cross-sectional longitudinal study showed, at maximal exercise, a significant increase in VE max during growth due only to a significant increase in VT max and VT/tI max, and that the relationships of anthropometric characteristics and physical fitness with maximal breathing pattern change during growth.     

Confirmation of early menopause in fragile X carriers

Fragile X carriers have a median age of menopause 6 to 8 years earlier than women in the general population, with 28% experiencing premature ovarian failure defined as menopause before the age of 40 years. This information was obtained from 203 returned questionnaires from women in the UK Fragile X Society.     

Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.

Objective: Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). The primary features of FXTAS are late-onset intention tremor and gait ataxia. Previous reports have shown global deficits in neuropsychological measures among males with FXTAS, particularly those related to executive functioning. The purpose of this study was to investigate the neuropsychological profile among older males with the premutation who are at risk for FXTAS. Method: Premutation carriers, 66 with motor symptoms and 23 without, and 18 noncarrier siblings were recruited from pedigrees diagnosed with fragile X syndrome, all over age 50. Subjects were examined with a neurological test battery to identify symptoms of FXTAS and a neuropsychological test battery to investigate cognitive and behavioral profiles. Linear regression and ANCOVA were used to determine the effect of the premutation on outcome measures adjusting for age and education. Results: We identified a significant decrease in scores of general intelligence and a marginally significant decrease in scores of logical memory among premutation carrier males with motor symptoms compared to the noncarrier male siblings. We did not identify deficits in executive functioning in our sample of premutation carrier males with motor symptoms. Conclusions: Similar to other reports, we found that the FMR1 premutation is associated with deficits in general intelligence and memory among older males with symptoms of FXTAS. However, our results differed in that we found no evidence of premutation-associated executive dysfunction. We provide possible explanations for this difference. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Allogeneic BMT from a donor with fragile X syndrome: cytogenetic and molecular evaluation

We report the first case of engraftment of bone marrow collected from a donor with Fragile X syndrome with subsequent cytogenetic and molecular evaluation. Engraftment was prompt and stable. Whilst the Fragile X abnormality could be detected initially by molecular techniques in the peripheral blood, it could not be detected cytogenetically while the patient was receiving CsA.     

Autistic behavior in young boys with fragile X syndrome

BACKGROUND: Various studies have demonstrated the benefits of continuous nebulization therapy for delivering aerosols of the beta2 agonists such as terbutaline sulfate or albuterol sulfate to patients with severe asthma and/or impending respiratory failure. OBJECTIVE: The purpose of this investigation was to explicate the operational factors associated with the use of nebulizers for extended aerosol respiratory therapy including those factors that affect the prescribed aerosol dosages and the relationship to actual delivery of prescribed drugs to the respiratory airways of the lungs of a patient under treatment conditions. METHODS: Operational characteristics and methods have been investigated for use of long-running nebulizers for continuous nebulization therapy. Factors considered were particle size distribution, setup conditions, aerosolization concentrations and rates, delivery fraction of aerosol reaching patient, and changes in medication concentration during extended operation. With a large volume nebulizer, aerosols can be delivered to the patient without dilution via a standard open mask for up to eight hours without refill. The pneumatic HEART nebulizer with 240 mL reservoir was evaluated. RESULTS: The nebulizer was operated from a single compressed air or oxygen source and found to provide from 10 to 15 L/min of aerosol with 38 to 50 microL of aerosolized medicine per liter of air (or oxygen) and utilize from 30 to 56 mL/hour of medicinal liquid. The mass median aerodynamic diameter of the aerosol droplets was found to be about 2.0 microm (sigma(g) = 2.7). Delivery efficiency to the patient mask was about 90%. The aerosolized medicine delivered to the patient can be increased by adjusting the flow rate of the gas source or changing the solution concentration of medicine. Typically, several milligrams of drug can be delivered to the patient as inhaled aerosol per hour of treatment of which about one-quarter can be expected to be deposited in the lungs. During eight hours of operation the concentration of medicinal solution increased by about a factor of two because of water evaporation. CONCLUSIONS: Continuous nebulization therapy is an important means of treating patients with severe asthma. Dosage criteria can be established based on the operating characteristics of the nebulizer system, drug solution concentration, and patient respiration.     

Predicting placement in families who have children with severe handicaps: a longitudinal analysis

Effects of child characteristics and home environment on caregiver's behavioral intentions regarding placement were examined longitudinally for 100 families of children with severe mental retardation. Prior behavioral intentions significantly predicted actual placement, independent of other factors. Child characteristics, with one exception, failed to predict intentions or actual placement behavior. The more normative the child's appearance, the less likely caregivers were to seriously consider placement and to place. Higher socioeconomic standing of mothers promoted more serious consideration of placement as did larger numbers of siblings. Some factors of home quality promoted more active consideration but did not directly affect actual placements. Stress on caregiver contributed to both placement intentions and actual placements. Support resources, on the other hand, had little effect on placement intentions or placement.     

Peripartum cardiomyopathy: a longitudinal echocardiographic study

OBJECTIVE: Our purpose was to determine echocardiographic trends after initial diagnosis of peripartum cardiomyopathy. STUDY DESIGN: Nine women diagnosed with peripartum cardiomyopathy were prospectively recruited for a longitudinal echocardiographic study. Severe myocardial dysfunction was defined as left ventricular end-diastolic dimension > or = 60 mm + fractional shortening < or = 21%, and mild dysfunction was defined as left ventricular end-diastolic dimension < 60 mm + fractional shortening 22% to 24%. Unpaired t tests were used to compare sample means and Fisher's exact test used to compare discrete variables. RESULTS: All women were seen initially for pulmonary edema. Echocardiography showed decreased systolic function in all women. The mean age at diagnosis was 33.0 +/- 6.9 years. All but one woman had a diagnosis of either chronic hypertension (n = 6) or preeclampsia (n = 2). Four women were first seen ante partum and five post partum (range 1 day to 2 months). Repeat echocardiography was performed in all nine women (median 8 months, range 6 weeks to 5 years). There was no correlation between antepartum or postpartum presentation and cardiovascular status on follow-up (p = 0.3). Values for initial left ventricular end-diastolic dimension, severe versus mild dysfunction (68.3 +/- 7.2 mm vs 55.0 +/- 4.2 mm, p = 0.046), follow-up left ventricular end-diastolic dimension, severe versus mild (68.7 +/- 4.1 mm vs 52.0 +/- 5.7 mm, p = 0.002), and follow-up fractional shortening, severe versus mild (14.6% +/- 5.0% vs 28.5% +/- 9.2%, p = 0.02) are significant. Six of the seven women with severe dysfunction had stable disease in follow-up and one is awaiting heart transplant. One of the two women with mild dysfunction had disease resolution and one had stable disease. CONCLUSION: Patients with severe myocardial dysfunction due to peripartum cardiomyopathy are unlikely to regain normal cardiac function on follow-up.     

Biomedical advances in developmental psychology: The case of fragile X syndrome.

Fragile X syndrome, the most common inherited cause of mental retardation, is caused by an abnormal gene on the bottom end of the X chromosome. Discovered and sequenced in 1991, it is called the Fragile X Mental Retardation-1 (FMR-1) gene. Mutations in the FMR-1 gene include small expansions with a CGG (a specific sequence of the nucleotides) repetitive sequence that repeats from 50 to 200 times (the premutation) and the full mutation that involves a CGG repeat sequence that is greater than 200. In the full mutation, the FMR-1 gene is usually methylated, turning off the gene so that no protein is produced. Mutations within the FMR- I gene can cause a spectrum of learning difficulties ranging from mild problems to severe mental retardation. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Fathers' influence on children's cognitive and behavioural functioning: A longitudinal study of Canadian families.

An emerging body of research illustrates the connections between fathers and their children's development. This topic is particularly relevant in Québec, a demographically and culturally unique province in which female lone parenthood is relatively common; this pattern is related to socioeconomic disadvantages that predict negative cognitive and behavioural outcomes in youth. Using data from the Concordia Longitudinal Risk Project, an intergenerational longitudinal data set collected in inner city areas of Montreal, the current study investigated the prospective relations between fathers' presence and parenting, and children's subsequent cognitive and behavioural functioning. The current sample included 138 families from lower to middle income backgrounds who participated in two waves of data collection: when children were in middle childhood and subsequently three to five years later in preadolescence. The results indicated that for girls only, fathers' presence in middle childhood predicted fewer internalizing problems in preadolescence. For both boys and girls, fathers' positive parental control predicted higher Performance IQ and fewer internalizing problems over six years later. These findings add to the increasing body of literature suggesting that fathers make important contributions to their children's cognitive and behavioural functioning, and point to the benefits of developing policies that encourage fathers to spend time with their children (i.e., parental leave for men) and promote positive fathering and involvement through parenting courses. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Progressive spatial processing deficits in a mouse model of the fragile X premutation.

Fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that is the result of a CGG trinucleotide repeat expansion in the range of 55–200 in the 5′ UTR of the FMR1 gene. To better understand the progression of this disorder, a knock-in (CGG KI) mouse was developed by substituting the mouse CGG8 trinucleotide repeat with an expanded CGG98 repeat from human origin. It has been shown that this mouse shows deficits on the water maze at 52 weeks of age. In the present study, this CGG KI mouse model of FXTAS was tested on behavioral tasks that emphasize spatial information processing. The results demonstrate that at 12 and 24 weeks of age, CGG KI mice were unable to detect a change in the distance between two objects (metric task), but showed intact detection of a transposition of the objects (topological task). At 48 weeks of age, CGG KI mice were unable to detect either change in object location. These data indicate that hippocampal-dependent impairments in spatial processing may occur prior to parietal cortex-dependent impairments in FXTAS. (PsycINFO Database Record (c) 2010 APA, all rights reserved)