Williams Syndrome: Features in Late Childhood and Adolescence

PEDIATRICS ◽  
1987 ◽  
Vol 80 (1) ◽  
pp. 85-91
Author(s):  
Roberta A. Pagon ◽  
Forrest C. Bennett ◽  
Beverly LaVeck ◽  
Katherine B. Stewart ◽  
Jennifer Johnson

Nine children with the Williams syndrome were evaluated for physical, neurodevelopmental, and behavioral characteristics to record the natural history of this disorder. The study subjects, who ranged in age from 10 years to 20 years, generally showed lower than expected cognitive functioning with four of the nine functioning in the severely retarded range. However, all the children showed uneven developmental profiles, compared to measured IQ, with reading abilities exceeding the expected level and visual-motor skills deficient for overall performance expectations. All but one child had evidence of supravalvular aortic stenosis on echocardiography, but there was little morbidity from cardiovascular disease in this group of patients. Although all had grown at or below the fifth percentile in early childhood, seven now were above the fifth percentile for height. Personality attributes that characterize younger children with Williams syndrome persisted in this group of older children.

2007 ◽  
Vol 65 (1) ◽  
pp. 41-47 ◽  
Author(s):  
Inês Elcione Guimarães ◽  
Sylvia Maria Ciasca ◽  
M. Valeriana L. Moura-Ribeiro

There are few studies about the development of a child after a cerebrovascular accident (CVA), and they usually describe problems such as diminishing in intellectual capacities, difficulties in linguistic and visual-motor skills, as well as in spatial organization and integration. In this study, there were 28 children participating, being 14 placed in the experimental group (EG) after clinical diagnosis and ischemic CVA imaging, and other 14 children without past history of CVA, who formed the control group (CG). The neuropsychological research protocol included an intelligence test, a visual-motor coordination test, human figure drawing, a cortical functions battery and the medical records of the children from the EG. The analysis of the results of this study revealed that the best performances after the CVA are related to the shortest time of functional recovery; CG presented better performances than EG in all the instruments used, in cognitive, perceptual and motor skills. It has been noticed that CVA may lead to intellectual reduction in case of a recurrence of the vascular insult.


1993 ◽  
Vol 73 (2) ◽  
pp. 467-470 ◽  
Author(s):  
William N. Friedrich ◽  
David B. Shurtleff ◽  
Joyce Shaffer

Ten children with lipomyelomeningocele were evaluated with the WISC—R, the Wide Range Achievement Test—Revised, the Developmental Test of Visual-motor Integration, and the Child Behavior Checklist. These children were consecutive referrals to a birth defects clinic. Unlike their meningomyelocele counterparts, as a group these children appear to be average in their intellectual, academic, and behavioral characteristics. However, they exhibited low average perceptual motor skills, a feature more commonly seen in meningomyelocele.


2009 ◽  
Vol 29 (S 01) ◽  
pp. S87-S89 ◽  
Author(s):  
I. Music ◽  
M. Novak ◽  
B. Acham-Roschitz ◽  
W. Muntean

SummaryAim: In children, screening for haemorrhagic disorders is further complicated by the fact that infants and young children with mild disease in many cases most likely will not have a significant history of easy bruising or bleeding making the efficacy of a questionnaire even more questionable. Patients, methods: We compared the questionnaires of a group of 88 children in whom a haemorrhagic disorder was ruled out by rigorous laboratory investigation to a group of 38 children with mild von Willebrand disease (VWD). Questionnaires about child, mother and father were obtained prior to the laboratory diagnosis on the occasion of routine preoperative screening. Results: 23/38 children with mild VWD showed at least one positive question in the questionnaire, while 21/88 without laboratory signs showed at least one positive question. There was a trend to more specific symptoms in older children. Three or more positive questions were found only in VWD patients, but only in a few of the control group. The question about menstrual bleeding in mothers did not differ significantly. Sensitivity of the questionnaire for a hemostatic disorder was 0.60, while specifity was 0.76. The negative predictive value was 0.82, but the positive predictive value was only 0.52. Conclusions: Our small study shows, that a questionnaire yields good results to exclude a haemostatic disorder, but is not a sensitive tool to identify such a disorder.


2018 ◽  
Vol 18 (10) ◽  
pp. 857-880 ◽  
Author(s):  
Salma E. Ahmed ◽  
Nahid Awad ◽  
Vinod Paul ◽  
Hesham G. Moussa ◽  
Ghaleb A. Husseini

Conventional chemotherapeutics lack the specificity and controllability, thus may poison healthy cells while attempting to kill cancerous ones. Newly developed nano-drug delivery systems have shown promise in delivering anti-tumor agents with enhanced stability, durability and overall performance; especially when used along with targeting and triggering techniques. This work traces back the history of chemotherapy, addressing the main challenges that have encouraged the medical researchers to seek a sanctuary in nanotechnological-based drug delivery systems that are grafted with appropriate targeting techniques and drug release mechanisms. A special focus will be directed to acoustically triggered liposomes encapsulating doxorubicin.


2020 ◽  
Vol 8 (4_suppl3) ◽  
pp. 2325967120S0018
Author(s):  
Aaron J. Zynda ◽  
Mathew A. Stokes ◽  
Jane S. Chung ◽  
C. Munro Cullum ◽  
Shane M. Miller

Background: There is limited evidence examining the impact of learning disorders on testing and screening scores used in evaluation following concussion in adolescents. Purpose: To examine differences in clinical measures between adolescents with a history of dyslexia or ADD/ADHD and those without a history of learning disorder (LD) following concussion. Methods: Data were collected from participants enrolled in the North Texas Concussion Network Prospective Registry (ConTex). Participants ages 10-18 who had been diagnosed with a concussion sustained within 30 days of enrollment were included. Participants were separated into three groups based on self-reported prior diagnosis: dyslexia, ADD/ADHD, and no history of LD. Clinical measures from initial presentation were examined, including ImPACT®, King-Devick (KD), SCAT-5 symptom log, Patient Health Questionnaire (PHQ-8), and Generalized Anxiety Disorder (GAD-7) scale. Independent t-test analysis was performed to compare scores between groups. Results: A total of 993 participants were included; 68 with dyslexia, 141 with ADD/ADHD, and 784 with no history of LD. There was no difference in age, sex, time since injury, or history of concussion between the dyslexia group and no LD group. In the ADD/ADHD group, there were significantly more male participants (64.5% and 50.3% respectively, p=0.002). Participants with a history of dyslexia had a significant increase in KD time (63.7 sec vs 56.5 sec, p=0.019). Additionally, ImPACT® testing showed a decrease in visual motor speed (28.87 vs 32.99, p= 0.010). Total symptom score was higher in this group as well (36.22 vs 28.27, p=0.013). In those with a history of ADD/ADHD, multiple domains were found to be significantly different on ImPACT® testing including visual motor speed (30.05), reaction time (0.75), and cognitive efficiency (0.23) when compared to those with no LD (32.99, 0.71, and 0.27 respectively, p=0.004, 0.047, 0.027). KD time was also significantly higher in this group (62.1 sec vs 56.5 sec, p=0.008), as was the total symptom score (32.99 vs 28.27, p=0.043). PHQ-8 and GAD-7 were both significantly higher in the group with ADD/ADHD (5.79 and 5.06 respectively, p=0.001) than those with no LD (4.32 and 3.56, p=0.001). Conclusion: Differences were seen in participants with a history of dyslexia and ADD/ADHD on clinical concussion measures, including ImPACT® and KD testing, SCAT-5 symptom log, and screenings for depression and anxiety. A better understanding of the unique profiles seen in these patients will aid providers in their evaluation and assist as they counsel families regarding their child’s injury.


Author(s):  
Tamadhir F. Gazzaz ◽  
Bernadette Elders ◽  
Chun-Po Steve Fan ◽  
Cedric Manlhiot ◽  
Mike Seed ◽  
...  

Author(s):  
Ilona Bidzan-Bluma

Objective: It is estimated that twin-to-twin transfusion syndrome (TTTS) occurs in 10–15% of monochorionic twin pregnancies. One of the fetuses takes on the role of donor and the other of recipient. The treatment administered involves serial amnioreduction and laser photocoagulation of the communicating blood vessels. After TTTS, children may have deficiencies in psychomotor functioning, in particular in cognitive functions, expressive language, and motor skills. Few scientific reports indicate that twins after TTTS do not demonstrate significant differences in tests which measure intellectual functioning. Methods: The cognitive functioning of twins in the late childhood period was compared using the following tools: an analysis of their medical history, an interview with their parents, and neuropsychological tests allowing the evaluation of their whole profile of cognitive functions. Case Study: Cognitive functioning in the late childhood period was analyzed in a pair of 11-year-old male twins (juvenile athletes), a donor and a recipient, who had developed TTTS syndrome in the prenatal period. Results: Comparison of the cognitive functioning profile of the donor and recipient revealed that children with a history of TTTS develop normally in terms of cognitive and motor functioning in late childhood. A comparative analysis of the donor and recipient was more favorable for the recipient, who had a higher level of general intelligence, visual–motor memory, and semantic fluency. Conclusions: The fact that both the donor and the recipient chose to pursue athletics suggests that gross motor skills are their strongest suit. Playing sports as a method of rehabilitation of cognitive function of children born prematurely after TTTS could contribute to the improvement of cognitive functioning.


Author(s):  
Véronique Avettand-Fenoel ◽  
Jérôme Lechenadec ◽  
Mariama Sadjo Diallo ◽  
Marine Fillion ◽  
Adeline Melard ◽  
...  

Abstract Background Early combined antiretroviral therapy (cART) limits the total HIV-DNA load in children. However, data on its impact in older children and adolescents remain scarce. This study aims to compare HIV reservoirs in children (5-12 years) and adolescents (13-17 years) who started cART before 6 months (early (E-)group) or after 2 years old (late (L-)group). Methods The ANRS-EP59-CLEAC study prospectively enrolled 76 HIV-1 perinatally-infected patients who reached HIV-RNA<400 copies/mL less than 24 months after cART initiation, regardless of subsequent viral suppression (E-group: 27 children, 9 adolescents; L-group: 19 children, 21 adolescents). Total and integrated HIV-DNA were quantified in blood and in CD4+ T cell subsets. A substudy assessed HIV reservoir inducibility after ex vivo peripheral blood mononuclear cells (PBMCs) stimulation. Results Total HIV-DNA levels were lower in early- than late-treated patients (Children: 2.14 vs 2.87 log cp/million PBMCs, p<0.0001; Adolescents: 2.25 vs 2.74log, p<0.0001). Low reservoir was independently associated with treatment precocity, protective HLA and low cumulative viremia since cART initiation. The 60 participants with undetectable integrated HIV-DNA started cART earlier than the other patients (4 vs 54 months, p=0.03). In those with sustained virological control, transitional memory and effector memory CD4+T cells were less infected in the E-group than in the L-group (p=0.03 and 0.02, respectively). Viral inducibility of reservoir cells after normalization to HIV-DNA levels was similar between the groups. Conclusions Early cART results in a smaller blood HIV reservoir until adolescence, but all tested participants had an inducible reservoir. This deserves cautious consideration for HIV remission strategies.


1997 ◽  
Vol 12 (4) ◽  
pp. 323-323
Author(s):  
R. Glidden ◽  
D. Sheslow ◽  
W. Adams
Keyword(s):  

1973 ◽  
Vol 10 (1) ◽  
pp. 59-68 ◽  
Author(s):  
Jerome Rosner

This study explored the correlates between auditory and visual perceptual skills, and primary grade reading and arithmetic achievement. Three sets of scores–Stanford Achievement Test, a visual perceptual test (VAT), and an auditory perceptual test (AAT) were compared. Partial correlations were calculated for AAT and achievement, controlling on VAT; and for VAT and achievement, controlling on AAT. Results indicated that AAT scores account for significantly more of the variance in the language arts subtest scores than do the VAT; the reverse was true in accounting for the variance in arithmetic scores. It is suggested that learning to read depends heavily upon auditory skills, and that primary arithmetic achievement depends heavily on visual-motor skills. Pedagogical implications of these data are discussed, in terms of choosing optimally effective instructional programs for primary grade children based upon the strengths and deficits of their perceptual skills.


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