THE XYY CONDITION IN CHILDHOOD: CLINICAL OBSERVATIONS

PEDIATRICS ◽  
1969 ◽  
Vol 43 (5) ◽  
pp. 852-857
Author(s):  
Richard F. Daly ◽  
Raymond W. M. Chun ◽  
Stanley Ewanowski ◽  
Richard H. Osborne
Keyword(s):  
Mental Retardation ◽  
Sampling Methods ◽  
Chromosome Complement ◽  
Physical Characteristics ◽  
School Environments ◽  
Skeletal Anomalies ◽  
Clinical Observations ◽  
Average Intelligence ◽  
Home And School

The 47,XYY chromosome complement was found in the lymphocytes of a 6-year-old white boy of average intelligence. He seems well adjusted to home and school environments. He is extremely tall for his age, has an articulation problem, impaired coordination, and muscular and skeletal anomalies. Although he has had a hydrocoele repaired, his genitalia are otherwise normal. Mental retardation and genital maldevelopment have been quite common in the few reported cases of the XYY condition in children, but this may be partially due to sampling methods. It is apparent that the mental and physical characteristics of the average XYY boy are yet to be determined.

Fragile Sites on Chromosomes

PEDIATRICS ◽  
1982 ◽  
Vol 69 (1) ◽  
pp. 121-123
Author(s):  
Frederick Hecht ◽  
Thomas W. Glover ◽  
Barbara Kaiser-Hecht
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
Fanconi Anemia ◽  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Fragile Site ◽  
Chromosome Instability ◽  
Chromosome Complement ◽  
Fragile Sites ◽  
Chromosome Fragility

A fragile site on the X chromosome is associated with a common form of mental retardation in males and a proportion of females.1-3 This association was not fully appreciated when the fragile site on the X was first described in 1969,4 but it is crystal-clear today. Chromosome fragility can be random, as in Fanconi anemia, Bloom syndrome, and ataxia-telangiectasia, the chromosome instability syndromes.5 Breaks and rearrangements of chromosomes are seen in these disorders, all of which are autosomal recessive conditions predisposing to cancer. Fragile sites are special spots in the genome where gaps and breaks occur nonrandomly. The balance of the chromosome complement is normal.

RUSSIA’S FIRST CLINICAL CASE OF A CHILD WITH MABRY’S SYNDROME (HYPERPHOSPHATASIA, MENTAL RETARDATION AND EPILEPSY) IN COMBINATION WITH HIRSCHSPRUNG’S DISEASE

2021 ◽  
Vol 100 (4) ◽  
pp. 148-154
Author(s):  
E.S. Pimenova ◽  
◽  
D.S. Tarasova ◽  
E.A. Klimova ◽  
D.A. Morozov ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung's Disease ◽  
Clinical Case ◽  
Hirschsprung’S Disease ◽  
Genetic Defects ◽  
Congenital Disease ◽  
Developmental Defects ◽  
Clinical Observations ◽  
Literary Sources ◽  
Severe Manifestation

The article presents a literature review of a rare congenital disease, hyperphosphatasia syndrome with mental retardation (Mabry's syndrome) in children. This syndrome is characterized by a triad of symptoms: hyperphosphatasia, epilepsy and mental retardation, often associated developmental defects. To date, 114 patients have been described. The review presents the available literary sources with clinical observations of patients since 1970, when the syndrome was first described by the pediatrician Ch. Mabry. The data on genetic defects leading to the disease are presented. The scheme of development of pyridoxine-sensitive epilepsy, the most severe manifestation of the syndrome, is described. The first clinical case of the patient with Mabry's syndrome in combination with Hirschsprung's disease in Russia is described.

Ariel and Buzz Lightyear are Coming to School

2011 ◽  
pp. 96-111 ◽  
Author(s):  
Allison Sterling Henward
Keyword(s):  
United States ◽  
Popular Culture ◽  
Social Class ◽  
Preschool Teachers ◽  
The United States ◽  
School Environments ◽  
Technology In The Classroom ◽  
Home And School ◽  
Class Play ◽  
Culture Technology

This chapter will examine how preschool teachers can facilitate the use of popular culture oriented technology in the classroom. Acknowledging that ideology and social class play a major role in the inclusion/ rejection of popular culture technology children interact with in the United States, this chapter outlines the approaches teachers can take in understanding (and in some cases incorporating) popular culture technology into the classroom to more effectively bridge home and school environments.

scholarly journals The Trouble with Boys: Social Influences and the Gender Gap in Disruptive Behavior

2013 ◽  
Vol 5 (1) ◽  
pp. 32-64 ◽  
Author(s):  
Marianne Bertrand ◽  
Jessica Pan
Keyword(s):  
Disruptive Behavior ◽  
Home Environment ◽  
Gender Gap ◽  
School Environment ◽  
Social Influences ◽  
Single Mother ◽  
School Environments ◽  
Early School ◽  
Key Features ◽  
Home And School

This paper explores the importance of the home and school environments in explaining the gender gap in disruptive behavior. We document large differences in the gender gap across key features of the home environment—boys do especially poorly in broken families. In contrast, we find little impact of the early school environment on noncognitive gaps. Differences in endowments explain a small part of boys' noncognitive deficit in single-mother families. More importantly, noncognitive returns to parental inputs differ markedly by gender. Broken families are associated with worse parental inputs, and boys' noncognitive development, unlike that of girls', appears extremely responsive to such inputs. (JEL I21, J12, J13, J16, Z13)

Sex Differences in Variability for Cognitive Measures

2009 ◽  
Vol 4 (6) ◽  
pp. 612-614 ◽  
Author(s):  
Eric Turkheimer ◽  
Diane F. Halpern
Keyword(s):  
Sex Differences ◽  
Mental Retardation ◽  
X Chromosome ◽  
Causal Explanation ◽  
High Ability ◽  
Cognitive Measures ◽  
Mean Values ◽  
Average Intelligence ◽  
Males And Females ◽  
Mean Differences

Theories about the origin of cognitive sex differences must address differences in three portions of ability distributions: low-tail variability, high-tail variability, and mean values. In addition, genetic theories must provide evidence that these three types of differences are (at least in large part) caused by alleles that are located on the X chromosome. It is well established that there are more mentally retarded males than females, and this disparity is attributable to genes located on the X chromosome. By contrast, there are no known “intelligence genes” that can provide a parallel explanation for differences in variability in the high ability tail of distributions. Mean differences between males and females also defy any X-linked hypothesis about average intelligence because females and males excel on different cognitive measures. Thus, we conclude that X-linked genetic explanations of cognitive sex differences can only be substantiated as a causal explanation for the excess of males diagnosed with mental retardation.

scholarly journals Exploring the Meaning of Parental Involvement in Physical Education for Students With Developmental Disabilities

2013 ◽  
Vol 30 (2) ◽  
pp. 147-163 ◽  
Author(s):  
Jihoun An ◽  
Samuel R. Hodge
Keyword(s):  
Developmental Disabilities ◽  
Physical Education ◽  
Parental Involvement ◽  
Collaborative Partnerships ◽  
School Environments ◽  
Phenomenological Inquiry ◽  
Elementary Aged Children ◽  
Big Picture ◽  
Additional Support ◽  
Home And School

The purpose of this phenomenological inquiry was to explore the experiences and meaning of parental involvement in physical education from the perspectives of the parents of students with developmental disabilities. The stories of four mothers of elementary aged children (3 boys, 1 girl), two mothers and one couple (mother and father) of secondary-aged youth (1 girl, 2 boys) with developmental disabilities, were gathered by using interviews, photographs, school documents, and the researcher’s journal. Bronfenbrenner’s (2005) ecological system theory provided a conceptual framework to interpret the findings of this inquiry. Three themes emerged from thematic analysis: being an advocate for my child, understanding the big picture, and collaborative partnerships undeveloped in GPE. The findings lend additional support to the need for establishing collaborative partnerships in physical education between home and school environments (An & Goodwin, 2007; Tekin, 2011).

Pediatric Power Wheelchairs: Evaluation of Function in the Home and School Environments

1991 ◽  
Vol 3 (1) ◽  
pp. 24-31 ◽  
Author(s):  
Jean Deitz ◽  
Kenneth M. Jaffe ◽  
Lynn S. Wolf ◽  
Teresa L. Massagli ◽  
Denis Anson
Keyword(s):  
School Environments ◽  
Power Wheelchairs ◽  
Home And School

A CASE OF HYPERLYSINEMIA: BIOCHEMICAL AND CLINICAL OBSERVATIONS

PEDIATRICS ◽  
1967 ◽  
Vol 39 (4) ◽  
pp. 546-554
Author(s):  
Marvin D. Armstrong ◽  
Meinhard Robinow
Keyword(s):  
Mental Retardation ◽  
Renal Clearance ◽  
Muscle Weakness ◽  
Human Urine ◽  
Normal Child ◽  
Test Dose ◽  
Causative Factor ◽  
Normal Range ◽  
Clinical Observations ◽  
Upper Limit

Clinical and biochemical observations on a mentally retarded 4-year-old boy who has a lysinuria and hyperlysinemia are presented and discussed. He differed clinically from the three patients described previously in that he did not have marked muscle weakness. His endogenous renal clearance of lysine while fasting was twice the upper limit of normal for children, and after fasting his plasma lysine level had decreased to within the normal range. After a test dose of lysine (150 mg/kg orally) his plasma lysine level was increased from 2.43 to 15.2 mg/100 ml after 2½ hours, and after 7 hours it was still 7 mg/100 ml. No evidence for the degradation of a significant amount of lysine by any new pathway could be obtained. Homoarginine was identified in his urine and detected in his blood; homocitrulline was measured in his urine. α-Aminoadipic acid could not be detected in his urine. Nα and N\g=elunate\-Acetyllysines were identified in his urine at approximately three times the concentration as in the urine of a normal child of the same age; neither of these derivatives had been identified previously as components of human urine. The possibility is suggested that in this patient the lysine abnormality may be coincidental with and not a causative factor for his mental retardation.

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