Previous Article Next Article. Article Navigation. Articles June 01 This Site. Google Scholar. Pediatr Rev 27 6 : — Cite Icon Cite. Note: This is part 1 of a 2-part article. Part 2 will appear in July After completing this article, readers should be able to:. Know the mechanism of inheritance for Fragile X. List age-appropriate instruments for the measurement of intelligence and adaptive skills. You do not currently have access to this content.
Comments Icon Comments 0. View full article. Traditionally mental retardation was looked upon merely as a mental health concern, in so far as text books and governmental activities were concerned. Today's more comprehensive knowledge has made it clear that such unilateral identification is most misleading and apt to hinder effective program development, whether in practice, teaching, or research. Now the pediatrician claims a primary stake in this area as a general health rather than just a mental health concern, while from other sides the sociologist and social worker, the educator and the psychologist make similar claims.
Not only have more than 90 causative factors been identified as operative in mental retardation, representative of these various fields, but they frequently manifest themselves in combinations requiring diagnostic and therapeutic measures from different fields. In practice this has resulted at the present time in heated legislative arguments as to which state agency should have prime responsibility for this field, and has similarly vexed the community planners.
No definite statistics are available regarding the numerical extent of mental retardation, and even the estimates differ widely. However, the most authoritative sources agree that the present number of mental retardates should be estimated for the United States as five million individuals or approximately thirty per thousand population.
Of these thirty, about twenty-five are mildly retarded and five are moderately retarded, leaving one in thirty in the severely retarded group. Several important considerations suggest caution in the use of these figures. First, in many cases the basis for these classifications remains in practice the intelligence quotient I. In view of the fact that the numbers sharply increase the higher the ceiling is pushed, those using an I. Furthermore, we are not dealing with static groups. Studies both here and abroad have shown that an individual can move from one group into another as a result of improved performance.
Finally, recent medical advances also substantially affect these figures: the advent of antibiotics has markedly decreased the previously high number of deaths from infectious diseases during childhood and adolescence, and this will increase the number of adult retardates in our communities.
Medical skill also keeps alive an increasing number of infants who formerly would have died before or during birth. Page 2: 9 Historical. The first serious study of mental retardation came from two French physicians, Dr. Jean Itard and Dr. Edward Seguin, in the first decades of the nineteenth century. The first specific step in the United States was the opening of an institution in , now known as the Walter E. In a group of superintendents founded what is today known as the American Association on Mental Deficiency.
High optimism regarding the effectiveness of institutional treatment prevailed in those early days and emphasis was on a forward-looking educational regime. When it later became clear that the high expectations could not be fulfilled, a strong counterreaction followed and the institutional programs were reduced largely to custodial care. An event of lasting significance was the publication in of a study, by a volunteer welfare worker, of "the Jukes," a presumably degenerate family spreading illiteracy, disease, crime, and pauperism through the generations.
Twenty-five years later Dr. Henry H. Goddard published his famous history of the "Kallikak family," reemphasizing what he saw as the dangers to society from inherited feeble-mindedness, and this study remained standard fare in our colleges and universities until the comparatively recent past, confirming the pessimistic attitude toward the feeble-minded and pointing to such measures as segregation and eugenic sterilization.
While the Kallikak study is now thoroughly discredited, Goddard's leadership at the Training School at Vineland, and in particular his introduction of the Binet test to America, have earned him just and lasting fame.
A hopeful note was introduced with the establishment of special classes for retarded or backward children, first in Providence, Rhode Island, in , followed in quick succession by large cities throughout the country.
These classes were in general for the mildly retarded, then still known as morons; and it was not until the 's that there were introduced in a few localities classes for the moderately retarded, now called "trainables. Parallel with the establishment of special classes, new developments occurred in the institutional field, as it became evident that the then prevailing policies of institutionalization would lead to more serious overcrowding.
So-called colonies were organized for the dual purpose of moving part of the institutional population to cheaper quarters in rural areas, and of utilizing these people for remunerative work, first on farms and later in other work situations such as domestic work for the women. More recently the name "colony" has been given in several states to new residential facilities for the mentally retarded, but this is not related to the original colonies developed in various states.
Somewhat later a system of parole was developed, and in the 's New York State pioneered with family care for the mentally retarded after the system had worked our successfully as an extension of the state hospital care for the mentally ill. Finally, one negative development should be mentioned in these brief historical comments.
When the child guidance clinic movement came into being in the 's, mentally retarded children were included in the program; however, the clinics' attention focused more and more on the emotionally disturbed and mentally ill child, and soon retarded children found themselves excluded altogether from any of these services.
At the time of World War II the field of mental retardation was seriously lagging as compared with developments in other areas of health, welfare, and education.
There were exceptions to this in research, residential training, and public schooling, but these were isolated islands of excellence in a field that was as much neglected by budget directors as by institutions of higher education; as much by the related professions as by the general citizen. In , groups of parents of retarded children which had formed during the preceding few years came together in Minneapolis to establish the National Association of Parents and Friends of Mentally Retarded Children.
Within a few years this organization gained an influence in its sphere of work without parallel in the history of voluntary organizations in the welfare and health field. Although deeply concerned with the welfare of their own children, the leadership of NARC showed great wisdom in focusing on broad, long-range objectives. Realizing that significant improvement could only come from enlisting the aid of federal agencies in a nationwide attack on the problem of mental retardation in all its ramifications, the Association developed and presented to Congressional leaders a forward-looking program designed to overcome the long neglect of the field.
At the same time, the Association recognized that one of the most serious weaknesses inhibiting progress in mental retardation was the lag in research and the scarcity of outstanding professional leadership. A scientific research advisory board was created to move forward these areas; and in a major three-year survey was launched to take stock of research activities in the field of mental retardation and to draw up a blue print of research needs. Page 3: 16 Today, the Association has close to units throughout the country and in military establishments on foreign soil.
Many of them maintain pilot projects of community services for the mentally retarded, and all of them assist in community and statewide planning. Increasingly this participation is recognized formally and officially. A recent check of sixteen special state commissions dealing with the problem of mental retardation showed that in eight of them representatives of NARC units had been asked to serve as commission members.
In the institutional area, parents' associations are rendering extensive volunteer service and have furnished special recreational equipment. Altogether, the form, scope, and effectiveness of NARC's activities on the local, state, and national levels constitute a new phenomenon in the field of health and welfare services; and throughout the published literature of recent years, it is acknowledged that it was this citizen effort that brought new vigor and broader perspectives to the field of mental retardation.
In spite of the tremendous progress that has been made in the care of the mentally retarded, it is not possible to point to any one community in the United States which offers a well-rounded program for the retarded, let alone is quantitatively able to deal with the service load.
Such a well-rounded program must provide for the mildly as well as the severely retarded; for those living at home as well as those requiring residential care; for the young and for the adult. The fact that many of these programs require active participation from a wide cross section of the professions, none of which can claim the dominant role, creates problems as to the appropriateness of administrative sponsorship and source of support.
At least as far as the severely retarded are concerned, many communities have had no experience in providing services and are hesitant to assume such new responsibilities in a period of shrinking budgets.
The number of retardates needing service suggests that many of these functions should be considered public responsibilities, yet there is no precedent as to which ones should be a municipal, county, or state responsibility. Planning for specific services is further complicated by the fact that as the new programs initiated during the past five to seven years are taking effect, the needs for service are changing.
Thus, a retarded child whose parents had the benefit of competent clinical evaluation and helpful parent guidance, and who has had the benefit of more adequate diet and physical regime and of some preliminary training and group contact in a preschool situation, presents quite different needs in terms of schooling and leisure-time activities than his far less fortunate counterpart did ten years ago.
In turn, the improved schooling he now can receive in many communities is likely to improve his status in so far as eventual adult rehabilitation services are concerned.
With so much in flux, qualitatively as well as quantitatively, long-range planning is difficult. The key problem confronting parents of mentally retarded children is the need for competent diagnostic services. Rather than find a solution through increasing the resources of existing child guidance clinics under psychiatric auspices, the basic NARC legislative program suggests that funds be made available to the U.
Children's Bureau for development of pediatric clinic facilities as part of the maternal and child health programs supported by the Bureau in all the states. By , Bureau funds had assisted in establishment of 50 such clinics in 44 states, and more than 30 community retardation clinics were operating with support from other sources. Unfortunately, this tremendous improvement still falls far short of existing needs, and waiting lists of from six months to one year are still not uncommon.
This creates serious problems since, in at least some of the cases, a delay in proper diagnosis and consequent delay in proper management of the child may result in irreparable further damage. Furthermore, many of these new clinics are limiting their services to infants and pre-school children. Thus no facilities are available for re-evaluation of older children. Yet with the present state of knowledge, and thus further evaluations are needed as the child moves through developmental Stages.
With the establishment of so many special retardation clinics, the need for interprofessional as well as intraprofessional communication has become particularly acute; yet wide variations in the use of terminology and classifications provided a formidable block toward that goal. A particularly significant contribution is the introduction of a new behavioral or psychological classification, using as its base two dimensions -- measured intelligence and adaptive behavior.
Many of these are associated with atypical or dysmorphic physical characteristics. Such conditions include fragile X syndrome, neurofibromatosis, tuberous sclerosis, Noonan's syndrome and Cornelia de Lange's syndrome. A complete list of syndromes associated with mental retardation is beyond the scope of this article, and the reader is referred to the reference list. As many as one fourth of persons with mental retardation have a detectable chromosome abnormality.
Children with Down syndrome trisomy 21 usually have highly recognizable physical characteristics, but features associated with other chromosomal abnormalities, such as Klinefelter's syndrome 47,XXY , may not be as obvious to family members or the physician.
Other children may have a small deletion or duplication of a particular chromosome that is rarely reported; thus, the phenotype is still undetermined. Some chromosomal abnormalities are inherited from a parent but most occur de novo. Many previously described clinical syndromes have been found to have an associated chromosomal abnormality e. The following case report highlights the importance of early diagnosis, in planning therapy for the child and in providing family planning information to the parents.
He was born to a year-old woman, gravida 2, para 2, living children 2. He was delivered at term by cesarean section with no prenatal, labor or postnatal complications. He was slightly blue at birth and required oxygen. Mother and infant went home in two days, and no other newborn problems were noted. Birth weight was 3. The infant was breast-fed for about 12 months. Solid foods were added at 10 months, but some difficulty was noted with chewing.
The boy rolled over at three to four months, sat without support at seven months and crawled at seven to eight months. He began to walk at 16 months but still did not talk. The mother first became concerned about lack of speech when the child was 13 months old.
The remainder of the medical history, the review of systems and the family history were noncontributory. At 16 months, the child's height and weight were less than the 5th percentile; head circumference was at the 25th percentile. The child was pleasant, alert, active and cooperative. No vocalization of any kind was noted during the examination. Physical findings included a slightly prominent forehead with a depressed wide nasal bridge and a flat nose. The midface appeared depressed; the child's face closely resembled his mother's.
The only other abnormal finding was a small left testis. The boy could stand for a few seconds without support and was able to take a few steps.
His muscle tone was mildly low but within the reference range. The physician's impressions included the following: midface hypoplasia, small stature, rule out hearing loss, speech and language delays and global developmental delay, hypoplastic left testicle, incoordinated swallowing, rule out genetic syndrome related to hypoplastic facial features, developmental delay, small stature and familial resemblance. In the pediatric genetics dysmorphology clinic, the above dysmorphic features were confirmed.
He also had distinctive blepharophimosis, ptosis, epicanthal folds, altered palmar creases and hyperextensibility of the fingers and knees. Ohdo blepharophimosis syndrome was diagnosed, based on a London Dysmorphology Database search. Chromosomal status was 46,XY. At 17 months' chronologic age, his developmental quotient was 61, with most delay occurring in speech, which was at the five-month level.
Motor skills were at the to month level. He was evaluated by subspecialists who addressed his various problems. Initial hearing assessment revealed moderate hearing loss. The child was referred to an early intervention program. Subsequent follow-up at 52 months of age revealed that the boy still had difficulty with feedings and was not yet toilet trained. His cognitive skills were at approximately a month level, and genetic follow-up confirmed Ohdo blepharophimosis syndrome.
The mother had subsequently given birth to a second child with the same syndrome. The physician must have a high index of suspicion to consider the diagnosis of mental retardation in any child. Some helpful clues include delayed speech, dysmorphic features minor anomalies , hypotonia generally or of the extremities, general inability to do things for self and, not least, expressed concern by the parents. The first and most important step in the diagnosis of mental retardation is to obtain a comprehensive patient and family history.
Previous gynecologic and obstetric history may reveal infertility or fetal loss. Assessment of maternal health status during pregnancy with the involved child should include questions regarding use of tobacco, alcohol and drugs prescribed and illicit ; lifestyle or other risks for sexually transmitted diseases; weight gain or loss; signs of infection; serious illness or injury; and surgery or hospitalization.
To establish a knowledgeable baseline history of the child, the physician should obtain information regarding length of pregnancy, premature onset of labor or rupture of the membranes, duration and course of labor, type of delivery and any complications. Apgar scores at one and especially five minutes should be reviewed, and birth weight, length and head circumference measurements obtained and plotted on appropriate growth charts.
The parents should be asked about any illnesses, feeding or sleeping difficulties in the newborn period and problems with sucking or swallowing, as well as the baby's general disposition. Extremes in infant temperament are often the first clue to an atypical course in child development. The systems review of the child should be complete, with special attention to growth problems, history of seizures, lethargy and episodic vomiting.
A developmental screen should be used at all well-child visits to obtain information about the timing of the child's developmental milestones, any concerns by parents or caregivers and comparison of the child's developmental rate and pattern with those of siblings. Specific questions about the child's current developmental abilities should be asked at each visit.
The Revised Denver Prescreening Developmental Questionnaire 10 is a useful screening tool that parents can readily complete to help determine the need for further evaluation with the time-honored Denver Developmental Screening Test. Other developmental screening tests are also available. Delays in speech development are common and may become more obvious when contrasted with the speech development of a sibling. Inquiry should be made regarding concerns about hearing and vision.
One cannot overemphasize the importance of addressing concerns voiced by a parent about a child's development, behavior and learning, because these expressed concerns accurately target the majority of children with developmental problems. Information should be obtained about the family unit, parents' occupations and educational achievements, educational and developmental status of siblings, role of the patient in the family, discipline of the children and identity of the child's caregiver when the parents are not home.
Family history of fetal loss, mental retardation, severe learning problems, congenital abnormalities and unexplained childhood deaths, as well as other serious illnesses in first- and second-degree family members, should be elicited. A complete physical examination can begin with a review of growth curves since birth, if these are available.
The head circumference should continue to be plotted. The examination should be thorough, with special attention to physical findings that are compatible with any risk factors obtained from the history. The child should be examined closely for dysmorphic features or minor abnormalities, such as unusual eyebrow pattern, eyes that are widely or closely spaced, low-set ears or abnormal palmar crease patterns.
Minor abnormalities are defined as defects that have unusual morphologic features without serious medical implications or untoward cosmetic appearance. Thus, minor abnormalities may provide clues to developmental problems of possible prenatal origin. Evaluation of the head, face, eyes, ears and mouth must include general assessment of visual acuity and hearing. Examination of the chest, heart, spine, abdomen, genitalia, extremities, muscles and neurologic reflexes can reveal abnormalities that may be associated with retardation.
Table 2 highlights five common syndromes or problems associated with retardation. Hypotonia; flat facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single transverse palmar creases. Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech. Chromosome analysis in all patients; chromosome analysis of parents if translocation is found; pediatric cardiology evaluation with echocardiogram by 6 weeks of age.
Cognitive limitations, with most in mild to moderate MR range; decreased life expectancy can be associated with congenital heart defect, especially if not recognized in early infancy. Diagnosis can be made at birth, based on history, baby's facial features medial epicanthal folds, wide nasal bridge, small upturned nose, long philtrum, narrow or wide upper lip , low birth measurements. Good history and physical examination imperative; history of maternal drinking, pre- and postnatal growth retardation, dysmorphic facial features, CNS involvement; no laboratory tests available.
Varies; growth may improve during adolescence and facial features may soften, but behaviors may cause serious problems. Many of these children are adopted; FAS and fetal alcohol effects usually developmental and behavioral problems are totally preventable. Abnormality in FMR-1 gene located on X chromosome; inherited in X-linked manner so males are more severely affected.
Macrocephaly; large ears; enlarged testicles after puberty; hyperextensible fingers. Deletion of chromosome 22; usually de novo but may be inherited in an autosomal dominant manner.
Cleft palate; congenital heart defect; speech delay; elongated face with almond-shaped eyes; wide nose with hypoplastic alae nasi; small ears; slender, hyperextensible fingers. High-resolution chromosome analysis with chromosome painting FISH to detect chromosome 22 deletion; parents should also be tested.
Normal life expectancy unless severe heart defect e. Variable; diagnosis may evolve over time, so repeated evaluations may be helpful. Nonspecific cluster of minor malformations; delayed milestones, especially language development. Information from references 4 , 5 , 7 and Findings from the history and physical examination of the child will help determine which diagnostic tests and referrals are appropriate for further assessment.
The physician needs to explain to the parents what these findings are and the reasons for further evaluation. The laboratory and radiographic assessment of individual children should be based on clinical presentation Table 3. Suspected contiguous gene syndromes e. Pediatr Rev ; This initial sharing of information with parents is an extremely important step and will probably set the stage for the future physician-family-patient relationship.
Ample time should be scheduled to discuss the findings and to allow for questions, which will be numerous. The family should be encouraged to write a list of questions for further communication with the physician.
0コメント