The Williams Elfin Facies Syndrome: The Psychological Profile as an Aid in Syndrome Identification

PEDIATRICS ◽  
1978 ◽  
Vol 61 (2) ◽  
pp. 303-306
Author(s):  
Forrest C. Bennett ◽  
Beverly LaVeck ◽  
Clifford J. Sells
Keyword(s):  
Mental Retardation ◽  
Cognitive Abilities ◽  
Congenital Heart ◽  
Motor Coordination ◽  
Mental Deficiency ◽  
Postnatal Growth ◽  
Psychological Profile ◽  
Craniofacial Abnormalities ◽  
Unique Type ◽  
Growth Deficiency

The Williams syndrome is a sporadic disorder generally characterized by a peculiar pattern of craniofacial abnormalities (elfin facies), prenatal and postnatal growth deficiency, mental retardation, variable congenital heart disease (including supravalvular aortic stenosis), and occasionally infantile hypercalcemia.1 Its etiology, pathogenesis, and possible relationship to vitamin D and calcium metabolism have not as yet been determined.2 Previous reports of children with this syndrome make reference to their overall mental retardation as determined by IQ as measured by various psychological tests.1,3 Frequent mention is also made of these children's tendency to an unusual, outgoing personality.1,3 Other observers describe a unique type of mental deficiency with poor motor coordination but an unusual command of language, often resulting in a superficial overestimation of cognitive abilities.3

Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

1978 ◽  
Vol 27 ◽  
pp. 57-66 ◽  
Author(s):  
B. Dallapiccola ◽  
Franca Dagna Bricarelli ◽  
A. Rasore Quartino ◽  
Maria Cristina Mazzilli ◽  
Rosanna Chisci ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Psychomotor Retardation ◽  
Facial Dysmorphism ◽  
Chromosome 6 ◽  
Craniofacial Abnormalities ◽  
Nasal Bridge ◽  
Growth Deficiency ◽  
Biparietal Diameter ◽  
The Face

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21→qter had segregated from a maternal translocation t(6 ; 16)(q15 ; q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221→qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221→qter.

scholarly journals Kabuki make-up syndrome

2002 ◽  
Vol 10 (3) ◽  
pp. 57-61
Author(s):  
Ana Paula Tedesco Gabrieli ◽  
Fernanda Velho Rovaris ◽  
Laura Elaine Bisol ◽  
Lívia Borges ◽  
Marja Mandelli Michelin ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Female Patient ◽  
Spinal Column ◽  
Postnatal Growth ◽  
Skeletal Maturation ◽  
Rare Congenital Anomaly ◽  
Skeletal Anomalies ◽  
Moderate Mental Retardation ◽  
Growth Deficiency

The Kabuki Make-up Syndrome is a rare congenital anomaly, characterized by five fundamental features, the " Pentad of Niikawa": dysmorphic facies, skeletal anomalies; dermatoglyphic abnormalities, mild to moderate mental retardation, postnatal growth deficiency. Orthopaedic aspects include scoliosis, malformation of spinal column and ribs, delay in skeletal maturation, congenital deslocation of the hip and patelar dislocation, among others.With the purpose of drawing attention to this diagnostic, the case of five years old brazilian female patient is presented.It´s convenient to present this case to focus on the existance of this syndrome and all its complexity and, therefore, provide help for future diagnosis.

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

A Role for the X Chromosome in Sex Differences in Variability in General Intelligence?

2009 ◽  
Vol 4 (6) ◽  
pp. 598-611 ◽  
Author(s):  
Wendy Johnson ◽  
Andrew Carothers ◽  
Ian J. Deary
Keyword(s):  
Sex Differences ◽  
Mental Retardation ◽  
X Chromosome ◽  
Cognitive Abilities ◽  
Population Distribution ◽  
Population Variation ◽  
General Intelligence ◽  
Substantial Evidence ◽  
Normal Distributions ◽  
Intellectual Abilities

There is substantial evidence that males are more variable than females in general intelligence. In recent years, researchers have presented this as a reason that, although there is little, if any, mean sex difference in general intelligence, males tend to be overrepresented at both ends of its overall distribution. Part of the explanation could be the presence of genes on the X chromosome related both to syndromal disorders involving mental retardation and to population variation in general intelligence occurring normally. Genes on the X chromosome appear overrepresented among genes with known involvement in mental retardation, which is consistent with a model we developed of the population distribution of general intelligence as a mixture of two normal distributions. Using this model, we explored the expected ratios of males to females at various points in the distribution and estimated the proportion of variance in general intelligence potentially due to genes on the X chromosome. These estimates provide clues to the extent to which biologically based sex differences could be manifested in the environment as sex differences in displayed intellectual abilities. We discuss these observations in the context of sex differences in specific cognitive abilities and evolutionary theories of sexual selection.

TEACHING ABOUT MENTAL SUBNORMALITY TO THE MEDICAL STUDENT AND PHYSICIAN: A CONFERENCE REPORT

PEDIATRICS ◽  
1963 ◽  
Vol 31 (1) ◽  
pp. 146-150
Author(s):  
Hilda Knobloch
Keyword(s):  
Mental Retardation ◽  
Medical Student ◽  
Mental Deficiency ◽  
Conference Report ◽  
World Health ◽  
Physician Education ◽  
The Social ◽  
Intellectual Abilities ◽  
The Individual ◽  
Mental Subnormality

MENTAL SUBNORMALITY is defined officially by the World Health Onganization as incomplete or insufficient general development of the mental capacities. It has two components: mental deficiency and mental retardation. Mental retardation is present when the social and educational performance is lower than that expected from a knowledge of intellectual abilities. Mental deficiency is diminution of the mental capacities themselves as a result of pathological processes. Individuals with organic disease of the brain may have additional impairment of intellectual functioning as the result of adverse environmental circumstances. It seems clean that advances in medical care have resulted in increasing survival of infants with brain damage, and more attention is being paid to the problem of subnormal mental functioning as well as to other neuropsychiatric disabilities. The American Academy of Pediatrics has reflected this increased interest by organizing a Section on Child Development and appointing a group to study formation of a separate Committee on Mental Retardation. The forthcoming report of the President's Panel on Mental Retardation will undoubtedly include consideration of the role of the official pediatric organizations as well as that of the individual pediatrician. In 1957 a conference on Teaching Mental Retardation in Medical Education was held. As its name implies, it was restricted to the problems of physician education. However, the relationship between physicians and other professionals concerned with providing services to the mentally subnormal was not considered. The report represents the consensus of members of the conference as to the most fruitful approach to engaging the interest of the physician, from the time he starts as a medical student, and mobilizing it in the most constructive fashion.

SMITH-LEMLI-OPITZ SYNDROME WITH CARDIOVASCULAR ABNORMALITY

PEDIATRICS ◽  
1971 ◽  
Vol 47 (5) ◽  
pp. 844-847
Author(s):  
Carl D. Robinson ◽  
Lowell W. Perry ◽  
Amnat Barlee ◽  
Gordon W. Mella
Keyword(s):  
Congenital Heart Disease ◽  
Mental Retardation ◽  
Heart Disease ◽  
Congenital Heart ◽  
Failure To Thrive ◽  
Neuromuscular System ◽  
Cardiac Lesion ◽  
Cardiovascular Abnormality ◽  
Opitz Syndrome ◽  
Unrelated Male

Smith, Lemli, and Opitz in 1964 described in three unrelated male children a syndrome consisting of failure to thrive, mental retardation, microcephaly, disorders of the neuromuscular system, typical facies with anteverted nares, micrognathia, broad maxillary ridge, and low set ears. Over 95% of males with the syndrome have hypospadias with or without cryptorchidism. Females have normal genitalia. Cutaneous syndactyly of the second and third toes commonly occurs. Chromosome karyotype is normal. The present case represents the fortieth to be reported. Of the 40 reported cases, eight or 20% had congenital heart disease which would appear to be emerging as a common feature of the syndrome. No specific cardiac lesion is predominantly seen.

Cooperative Programs of Training and Research in Mental Retardation

PEDIATRICS ◽  
1960 ◽  
Vol 25 (3) ◽  
pp. 525-525
Author(s):  
ROBERT B. KUGEL
Keyword(s):  
Mental Retardation ◽  
Professional Training ◽  
Mental Deficiency ◽  
Advisory Council ◽  
Professional Groups ◽  
Lay Persons ◽  
Professional Workers ◽  
Training And Research ◽  
Technical Planning ◽  
Almost All

Professional workers in the field of mental retardation and interested lay persons have been aware of the gulf that has existed between institutions for the mentally retarded and colleges and universities. In the past 5 or 6 years there has been a resurgence of interest in the problems of mental retardation in almost all professional groups. As part of this resurgence, the American Association on Mental Deficiency Project on Technical Planning in Mental Retardation was established with headquarters in Columbus, Ohio. At the recommendation of the Advisory Council it was felt that a study should be made to find out more about this traditional gulf or cleavage that is said to exist between the "ivory tower" and the "brick tower." This monograph is a report of this study. It has also been the aim of this study to promote more effective working relations and to stimulate more complete programs of professional training and research in mental retardation.

scholarly journals Effects of Cognitive Training in Mild Cognitive Impairmentmeasured by Resting State Functional Imaging

2020 ◽  
Vol 10 (11) ◽  
pp. 175
Author(s):  
Seungho Kim ◽  
Eunhee Park ◽  
Hyunsil Cha ◽  
Jae-Chang Jung ◽  
Tae-Du Jung ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
Training Program ◽  
Cognitive Training ◽  
Resting State ◽  
Cognitive Abilities ◽  
Motor Coordination ◽  
Network Connectivity ◽  
Functional Magnetic Resonance ◽  
Function Test ◽  
The Brain

Mild cognitive impairment (MCI) is defined as an intermediate state of cognitive alteration between normal aging and dementia. In this study, we performed a functional network connectivity analysis using resting-state functional magnetic resonance imaging to investigate the association between changes in functional connectivity in the brain and the improvement in cognitive abilities after cognitive training. A computerized cognitive training program was used to improve the abilities of fifteen participants with MCI. The cognitive training program (Comcog), which consists of three weekly sessions totaling 90 min, was conducted with all participants over six weeks. The cognitive abilities before (pre-Comcog) and after (post-Comcog) the cognitive training process were measured using a neurocognitive function test. After the Comcog, the participants enhanced their visual and verbal memories, attention, and visuo-motor coordination. The functional connectivity between cingulo-opercular (CON) and default mode (DMN) showed significant improvements after Comcog training. Therefore, our study suggests that cognitive training may improve the cognitive abilities of participants. This improvement was associated with an increase in the functional connectivity between DMN and CON. The increase in functional connectivity after cognitive training was specifically associated with overall cognitive functions, including executive, memory, decision-making, and motivational functions.

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