Cognitive Development of Unselected Girls with Complete and Partial X Monosomy

PEDIATRICS ◽  
1984 ◽  
Vol 73 (2) ◽  
pp. 175-182
Author(s):  
Bruce Bender ◽  
Mary Puck ◽  
James Salbenblatt ◽  
Arthur Robinson

The cognitive development of nine girls with 45,X and 45,X variant karyotypes, seven 45,X mosaics, and nine 46,XX control subjects (ages 8 to 17 years) followed since birth was evaluated. The nonmosaic group was slightly delayed in walking, had a moderately decreased full-scale and performance IQ, demonstrated a striking deficit in perceptual organization and fine motor execution, but had generally average language skills. Three nonmosaic girls with low intelligence were identified and one subject had above average intelligence. Intelligence was not correlated with the presence of physical stigmata. No obvious developmental differences were found between the three girls with 45,X variant, two with partial Xq deletions and one with a ring X chromosome, and the six girls with 45,X genotype. The 45,X mosaic group did not experience early developmental delays and was not significantly different from control subjects on any IQ score. A large amount of variability between subjects was noted, which could be partially attributed to family characteristics and socioeconomic conditions. Whereas this study corroborates previous findings of specific intellectual deficits in 45,X populations, it emphasizes the need for caution in estimating the cognitive development of any X and partial X monosomic infant.

2019 ◽  
Vol 45 (6) ◽  
pp. 1331-1335
Author(s):  
Brian Kirkpatrick ◽  
Özlem Gürbüz Oflezer ◽  
Mehtap Delice Arslan ◽  
Gary Hack ◽  
Emilio Fernandez-Egea

Abstract People with schizophrenia and primary negative symptoms (deficit schizophrenia) differ from those without such symptoms (nondeficit schizophrenia) on risk factors, course of illness, other signs and symptoms, treatment response, and biological correlates. These differences suggest that the 2 groups may also have developmental differences. A previous study found that people with schizophrenia have a wider palate than comparison subjects. We tested the hypothesis that those with deficit and nondeficit schizophrenia would differ on palate width. A dentist made blinded measurements of palate shape in deficit (N = 21) and nondeficit (N = 25) patients and control subjects (N = 127), matched for age and gender. The deficit group had significantly wider palates than either nondeficit or control subjects (respective means [standard deviation] 37.5 [3.9], 33.7 [3.1], and 34.0 [2.9]; P < .001 for both deficit/nondeficit and deficit/control comparisons, respective effect sizes 1.08 and 1.01). The nondeficit/control difference in width was not significant (P = .83), and there were no significant group differences in length or depth. The power to detect a nondeficit/control difference in width equal in size to that of the deficit/control difference in width (3.5 mm) was 0.99 and 0.92 for a 2.0-mm difference. This difference in palate width may reflect a divergence in development between deficit and nondeficit patients that occurs by the early second trimester and is consistent with the hypothesis that deficit schizophrenia is a separate disease within the syndrome of schizophrenia.


1992 ◽  
Vol 13 (3) ◽  
pp. 88-96
Author(s):  
Victor C. Vaughan

A prime function of the pediatrician is to monitor the developmental status of his or her patients. Sensitive monitoring demands a broad knowledge of developmental processes and issues and the ability to assess the data made available from the clinical examination accurately and efficiently. Areas of Developmental Assessment Developmental assessment is made in four broad areas during early childhood: physical or physiologic, neurodevelopmental, cognitive, and psychosocial. PHYSICAL OR PHYSIOLOGIC DEVELOPMENT This area comprises the changes in physical size, shape, and function that come with age. Many of these changes can be measured, such as height, weight, skinfold thickness, head circumference, body surface area, blood counts, enzyme activities, and hormone levels. These measurements can be compared with standard values that indicate the range of normal findings. NEURODEVELOPMENTAL MATURATION This area comprises changes in behavior that evolve with the passage of time, particularly those changes that depend primarily upon maturation. They include some reflex activities and many gross and fine motor skills, including visuomotor and other intersensory functions. These behaviors are assessed primarily by observation, often informally, but sometimes (when more critical appraisal is required) in a carefully structured setting. COGNITIVE DEVELOPMENT Cognitive development and neurodevelopmental maturation are closely related, and it is sometimes difficult to distinguish between them in the infant and young child.


1990 ◽  
Vol 12 (2) ◽  
pp. 132-143 ◽  
Author(s):  
Deborah L. Feltz ◽  
Camala A. Riessinger

An experiment was conducted to investigate the relative merits of in vivo emotive imagery and performance feedback in enhancing self-efficacy beliefs and performance on a competitive muscular endurance task. College males (n=60) and females (n=60) were randomly assigned to one of three conditions: mastery imagery plus feedback, feedback alone, or control condition. Subjects in the imagery-plus-feedback condition were told that one of the pair (always the subject) would receive imagery exposure while the other (always the confederate) would wait outside. Subjects performed two trials against the confederate, who always won by 10 seconds. A Group x Trials interaction for self-efficacy revealed a significant increase for the imagery group after brief exposure. Also, imagery subjects had significantly higher efficacy scores than feedback alone or control subjects after each performance trial. A Group x Trials interaction for performance indicated that imagery subjects initially had significantly longer performance times than did feedback alone or control subjects. Performance feedback alone did not influence efficacy beliefs or performance.


2009 ◽  
Vol 7 (1) ◽  
pp. 138-150 ◽  
Author(s):  
Zhong Qin ◽  
Xin Deng

This paper explores the impact of ownership structure on performance of family businesses at its early developmental stage in a context of under-developed market environment. Using a survey data of 296 private family firms in Ningbo, China, we find both management and single largest shareholder’s ownership is positively related to firm’s performance. However, family’s shareholding does not have significant impact on performance. Further inquiry on firm’s willingness to give shares to managers who are not family members indicates that while nearly half of the firms are willing to provide shares to professional managers, weak corporate governance mechanism and under-developed market may discourage such practice.


Author(s):  
Amanda D. SILVA ◽  
Thaylany C. AMORIM ◽  
Ádeny M. ARAGÃO ◽  
Maria J. IBAÑEZ ◽  
José A. FILHO ◽  
...  

Objectives: To evaluate the quality of life of patients coinfected with HIV/tuberculosis and to understand their perception of their health. Methods: A cross-sectional study was carried out in a hospital in the state of Pernambuco, Brazil. Data were collected between November 2017 and April 2018 through interviews. The WHOQOL-HIV Bref instrument was used, obtaining the total score and performance in the domains: physical, psychological, level of independence, social relationships, environment, spirituality. Sociodemographic and clinical data from the Logistic Control System of Medicines (SICLOM®) were also collected through a questionnaire. Results: Twenty-six patients were interviewed, 76.9% were male, mostly heterosexual, single, 43.1% presented an advanced state of immune system compromise. 73.1% considered their health "good" or "very good" and 69.2% did not consider themselves sick. The general quality of life, score from zero (worst quality of life) to one hundred (best quality of life) obtained an average of 69.6 ± 9.1. In the domains, the worst average was obtained at the independence level (11.1 ± 2.6) and the highest scores were in the spirituality (15.5 ± 3.8) and psychological (15.3 ± 2.2) domains. Conclusions: The low level of independence and the unfavorable socioeconomic conditions were important aspects influencing in the quality of life of the studied population. Knowledge about the most affected domains in the quality of life allows the elaboration of clinical guidelines and public assistance policies that contribute to the well-being of these patients.


2020 ◽  
Vol 127 (10) ◽  
pp. 1369-1376
Author(s):  
Thomas Müller ◽  
Ali Harati

Abstract Motor symptoms in patients with Parkinson’s disease may be determined with instrumental tests and rating procedures. Their outcomes reflect the functioning and the impairment of the individual patient when patients are tested off and on dopamine substituting drugs. Objectives were to investigate whether the execution speed of a handwriting task, instrumentally assessed fine motor behavior, and rating scores improve after soluble levodopa application. 38 right-handed patients were taken off their regular drug therapy for at least 12 h before scoring, handwriting, and performance of instrumental devices before and 1 h after 100 mg levodopa intake. The outcomes of all performed procedures improved. The easy-to-perform handwriting task and the instrumental tests demand for fast and precise execution of movement sequences with considerable cognitive load in the domains' attention and concentration. These investigations may serve as additional tools for the testing of the dopaminergic response.


Author(s):  
Gabrielle Pratte ◽  
Mélanie Couture ◽  
Marie-Ève Boisvert ◽  
Irma Clapperton ◽  
Josiane Bergeron ◽  
...  

This study aims to: (1) describe children’s participation in activities fostering their development, (2) document parental concerns about their children’s development, and (3) explore the influences of family characteristics on children’s activity participation and parental concerns. We conducted a phone survey with parents of children aged 0-5 years (n = 895). Survey results are presented as weighted proportions for the parent’s age, sex, and area of residence. Statistical comparisons were made using chi-square with p < 0.05. Most children were exposed at least weekly to fine motor (85.1% ± 2.4%), physical (83.0% ± 2.5%), and reading (84.2% ± 2.4%) activities. However, only a small proportion were exposed to those activities daily (49.7% ± 3.3%, 35.4% ± 3.2%, and 32.4% ± 3.1% respectively). Many (46.8%) parents had concerns about their children’s development. The most frequent domains of concern were communication skills (22.8% ± 2.8%), affective and behaviour skills (22.1% ± 2.7%), and autonomy (19.6% ± 2.6%). The proportion of parents having concerns was higher among families with lower incomes. The small proportion of children exposed daily to activities fostering their development, and the high proportion of parents with concerns about their children’s development are alarming. The integration of health and education services and the use of best practices fostering children’s development at home, at school, and in daycare centres is needed.


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