Observations on Community School Facilities for the Mentally Retarded and Admissions to Institutions in Ontario, 1954-63

The relationship between community school facilities and first admissions of mentally retarded children to Ontario Institutions was investigated for the period 1954-1963. The number of educable (I.Q. 50-75) mentally retarded children aged 6-16 years in community schools rose consistently (92.1/100,000 population in 1954 to 190.1 in 1963), while first admissions of educable mentally retarded persons aged 5-19 years to Ontario Hospital Schools showed no consistent trend (2.0/100,000 in 1954 and 2.0 in 1963). The number of trainable (I.Q. 20-50) mentally retarded children aged 5-18 years in community retarded children''s schools rose steadily (10.9/100,000 population in 1954 to 42.8 in 1963), while first admissions in this category aged 5-19 years demonstrated no consistent trend (2.6/100,000 in 1954 and 2.2 in 1963).No indication was found that the age distribution of these first admissions had changed from 1954 to 1963. Any effect that increased school facilities might have had in reducing first admissions may have been nullified by the very large demand for a limited number of beds.     

Macroorchidism and fragile X in mentally retarded males

Summary One hundred and seventy eight males resident in an institution for the mentally retarded were screened clinically for the presence of macroorchidism, using the standard orchidometer. In this way 52 males with a testicular volume of 25 ml and over were found. Of these, 11 had pronounced macroorchidism (above 25 ml). All 52 males were examined cytogenetically for the fragile X. Two patients with pronounced macroorchidism showed this abnormality. Although the other nine patients with pronounced macroorchidism were reexamined with FUdR-addition to blood cultures, no further cases positive for the fragile X were found. Also, the thyroid function as well as the prolactin level in serum were investigated in all 52 males. No significant abnormalities were found. The high incidence of macroorchidism in mentally retarded males is underlined; however, it is suggested that the definition of macroorchidism should take into account several parameters.     

Mental retardation associated with "balanced" chromosome rearrangements.

Balanced chromosome rearrangements were found in seven of 455 retarded children vs. four of 1,679 nonretarded, psychiatric children (P less than .05). The combined incidence of non-Robertsonian balanced rearrangements from this and reported surveys of the mentally retarded was five times greater than that from newborn surveys, whereas Robertsonian translocations were not increased among the retarded. The combined data show an increase in de novo rather than familial rearrangements among the retarded; the increase in de novo rearrangements is specifically for non-Robertsonian translocation.     

Low Prevalence of Hepatitis B Infections Among Residents of an Institution for the Mentally Retarded in New Mexico

Residential institutions for the mentally retarded are considered high-risk settings for hepatitis B (HB) infection. Accordingly, HB vaccine is recommended for susceptible clients and selected staff of such facilities. However, a serologic screening program among 364 residents of Los Lunas Hospital and Training School (LLHTS) in New Mexico found only 11 residents to be anti-HBc positive (3%) and only one of these residents was also HBsAg-positive (0.3%). The unexpectedly low prevalence of HB infections at LLHTS probably reflects infrequent HB introductions into the institution. Using these serologic data, a vaccination program was instituted to prevent HB infection among LLHTS residents, thereby eliminating the need for mass screening and HB vaccination of LLHTS employees. Serologic screening among residents of other smaller institutions for the mentally retarded is recommended before design of HB prevention programs for clients and staff.     

Sleep fragmentation in mentally retarded people decreases with increasing daylength in spring

We studied the sleep-wake behavior of mentally retarded people from late winter to early summer at 60 degrees N. During this time the daylength increased 8 h 51 min. The data were collected by observing the sleep-wake status of 293 subjects at 20-min intervals for five randomized 24h periods (= recording days). The intervals during which the individual recording days of the same order (1st, 2nd, etc.) were carried out, were called recording periods. Consequently, there were five recording periods, each containing 293 individual recording days. Even though there was overlap among the recording periods, the median daylength from one period to another increased approximately by 100 min. In the initial statistical analysis, the number of wake-sleep transitions was found to differ significantly among the five recording periods (Friedman test, p < 0.001). The mean ranks in the Friedman test suggested that the number of wake-sleep transitions was highest during the 1st and lowest during the 5th recording period. In further statistical analyses using a program for mixed effects regression analysis (MIXOR 2.0) it was found that the increase in daylength during the study period was associated with a simultaneous decrease of approximately 0.5 wake-sleep transitions in the whole study population (p < 0.001). The decrease in the number of wake-sleep transitions was significant only in the subgroups of subjects with a daylength change of more than 350 min between the 1st and 5th recording days (Wilcoxon tests, p < 0.005). This suggests that after a marked prolongation of the natural photoperiod, the reduction in sleep episodes was more probable than after smaller changes in daylength. It is concluded that the sleep of mentally retarded people living in a rehabilitation center at a northern latitude is more fragmented in winter than in early summer and that the change is related probably to the simultaneous increase in the length of the natural photoperiod. The sleep quality of persons living in institutional settings might be improved by increasing the intensity and/or duration of daily artificial light exposure during the darker seasons.     

A Survey of Toxoplasmosis Among Mentally Retarded Children

To determine what role, if any, toxoplasmosis plays in the mental retardation of children, sera from 345 mentally retarded children were tested for the presence of antibodies to Toxoplasma gondii. The serological tests employed were the complement-fixation, the Sabin-Feldman dye test and the immunofluorescence test. The donors were also skin-tested with toxoplasmin.Of 345 mentally retarded donors nine gave a positive skin reaction, 15 possessed complement-fixing antibodies, 21 had immunofluorescent antibodies and 45 had dye test antibodies to T. gondii.The incidence of antibodies to T. gondii in the mentally retarded group was approximately the same as in the normal control group of the same age, and less than in the group suspected of having toxoplasmosis. It is concluded that in the children in this study toxoplasmosis played little or no role as a predisposing factor in the occurrence of congenital mental deficiency.     

Prevalence of the fragile X syndrome in four birth cohorts of children of school age

Summary The prevalence of the fragile X syndrome among 12,882 children (6594 boys and 6288 girls) born during the years 1969–1972 in Kuopio province in eastern central Finland has been studied retrospectively. Mentally retarded children were selected from normal schools by using school achievement tests and from registers of mentally retarded individuals. In the present study fragile X syndrome was found in 6/111 mentally retarded children (5.4%), in 4/61 boys and in 2/50 girls, respectively. It was not detected in the control group of 85 healthy children. The corrected prevalence of fragile X syndrome among boys in four successive birth cohorts was estimated to the 1 in 1210 or 0.8/1000, and that among girls, 1 in 2418 or 0.4/1000. The overall prevalence was calculated to be 1 in 1612 or 0.6/1000 children.     

Sleep fragmentation in mentally retarded people decreases with increasing daylength in spring

We studied the sleep–wake behavior of mentally retarded people from late winter to early summer at 60°N. During this time the daylength increased 8 h 51 min. The data were collected by observing the sleep–wake status of 293 subjects at 20-min intervals for five randomized 24h periods (=recording days). The intervals during which the individual recording days of the same order (1st, 2nd, etc.) were carried out, were called recording periods. Consequently, there were five recording periods, each containing 293 individual recording days. Even though there was overlap among the recording periods, the median daylength from one period to another increased approximately by 100 min. In the initial statistical analysis, the number of wake–sleep transitions was found to differ significantly among the five recording periods (Friedman test, p<0.001). The mean ranks in the Friedman test suggested that the number of wake–sleep transitions was highest during the 1st and lowest during the 5th recording period. In further statistical analyses using a program for mixed effects regression analysis (mixor 2.0) it was found that the increase in daylength during the study period was associated with a simultaneous decrease of approximately 0.5 wake–sleep transitions in the whole study population (p<0.001). The decrease in the number of wake–sleep transitions was significant only in the subgroups of subjects with a daylength change of more than 350 min between the 1st and 5th recording days (Wilcoxon tests, p<0.005). This suggests that after a marked prolongation of the natural photoperiod, the reduction in sleep episodes was more probable than after smaller changes in daylength. It is concluded that the sleep of mentally retarded people living in a rehabilitation center at a northern latitude is more fragmented in winter than in early summer and that the change is related probably to the simultaneous increase in the length of the natural photoperiod. The sleep quality of persons living in institutional settings might be improved by increasing the intensity and/or duration of daily artificial light exposure during the darker seasons.     

An outbreak of amebiasis in an institution for the mentally retarded in Japan

The results of an epidemiological survey in a 190-patient institution for mentally retarded were reported. Twenty percent of the patients had either cysts or trophozoites of Entamoeba histolytica in their stools, and 38% were positive serologically. The amebic outbreak revealed a sex-independent but age-dependent distribution; younger patients had more serious symptoms in cases invasive amebiasis. A high prevalence of amebic infection was found in the heavily retarded patients, and the positive cases tended to concentrate in certain training classes. Further demographic analysis suggests that the amebic infection was possibly caused by abnormal behavior of heavily retarded patients.     

应用多聚酶链式反应快速分析FMR-1基因突变

为了建立一种在先天性智力低下患儿中快速分析脆性X综合征智力低下基因1(Fragile X mental retardation gene 1.FMR-1)突变的方法,对先天性智力低下儿童进行脆性X综合征的大面积筛查和诊断,应用复式多聚酶链式反应一次性扩增FMR-1基因的(CGG)n的重复区,分析CGG重复序列的大小,判断FMR-1基因状态(正常、突变前、突变后),对脆性X综合征可疑患儿快速筛查,在113倒不明原因的先天性智力低下患儿中,分析有脆性X综合征携带者(FMR-1基因前突变者)7例(2男5女),脆性X综合征患者(FMR-1基因突变者)5例,应用多聚酶链式反应可以对脆性X综合征可疑患儿进行大面积初筛,确定携带者和患者。     

Partial trisomy of the short arm of chromosome 3 (3p25→3pter)

Summary Two profoundly mentally mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p253pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy reported up to now, the present patients display a similar craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners. Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.     

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland

Summary A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of the 178 retarded children and from 101 healthy children were analyzed quantitatively for aspartylglucosamine by high-performance liquid chromatography. The results identified three affected individuals in the retarded group indicating an exceptionally high prevalence of aspartylglycosaminuria (1:3643) in the study population, consistent with a carrier frequency of 1:30. The 95% confidence limits for the prevalence are 1:4 352-1:16389. This is the highest prevalence described for any glycoproteinosis in any population and comparable to the incidence figures of the most common lysosomal storage diseases, Gaucher disease type I and Tay-Sachs disease among Ashkenazi Jews. In the study group, aspartylglycosaminuria was, after trisomy 21 (n = 19) and the fragile X syndrome (n = 6), the most common genetic cause for mental retardation.     

On the nosology of moderate mental retardation with special attention to X-linked mental retardation. A diagnostic genetic survey of 274 institutionalized moderately mentally retarded men

In this paper we report the results of a genetic-diagnostic survey of 274 institutionalized moderately mentally retarded adult males and compare these data with those from our previous studies in the severely mentally retarded and from a comparable population of 262 institutionalized moderately mentally retarded males and females (The Borgenstein experience). Special attention is paid to the nosology of X-linked mental retardation and familial mental retardation in general.     

Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation

Fragile-X mental retardation is the commonest form of inherited mental retardation. We have studied 146 Indian patients (174 X chromosomes) with unexplained mental retardation by molecular methods. All study subjects were unrelated. Three of the 118 males were found to have the FMR1 full mutation. None of the patients tested were positive for the FMR2 full mutation. The Fragile X prevalence was 2.5% among males, which is lower than previously reported in Indian mentally retarded patients. Screening for Fragile X among patients with nonspecific mental retardation is important, even if there is no family history of mental retardation or typical behavioral or physical features associated with the Fragile-X phenotype. Identification of positive cases is also very important for the families, because of the high recurrence risk of the disease. Large multicenter screening programs with uniform criteria would be worthwhile to determine the prevalence of Fragile-X mental retardation in the Indian population.     

de novo inversion-duplication of 2q35-2qter without growth retardation.

A 7-year-old mentally retarded child was found to be the carrier of a de novo inversion-duplication of 2q35-2qter. His phenotype corresponded to that which is classically described in cases of partial trisomy of the long arm of chromosome 2; however, he did not show the growth retardation which usually characterizes this and other aneuploidy syndromes.     

西安地区儿童支气管哮喘吸入性过敏原的调查分析

目的:探讨西安地区儿童支气管哮喘吸入性过敏原的分布情况。方法:选择950例来自西安地区的支气管哮喘患儿为研究对象,采用过敏原皮肤点刺试验检测,以组胺作为阳性对照,生理盐水为阴性对照,分析不同年龄和性别的患儿过敏原的分布情况。结果:950例支气管哮喘患儿中,384例皮肤点刺过敏原检测呈阳性,占40.4%,男女患儿过敏原检测阳性分布无明显差异(P0.05);尘螨为主要的过敏原,其次为艾蒿和霉菌类;随着患儿年龄的增加,其过敏原检测的阳性率明显升高(P0.05),且大多数过敏原检测阳性患儿至少合并2-3种过敏原阳性。结论:西安地区支气管哮喘患儿吸入性过敏原阳性率与其性别无关,但与其年龄有关,过敏原以尘螨类为主,大多数检测阳性的患儿对至少一种以上的过敏原阳性。     

On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome

In this report we present follow-up on two moderately mentally retarded boys with Aarskog syndrome. As 22 other mentally normal Aarskog patients these two boys presented a catch-up after a delayed puberty with a final adult height of 160 cm. A remarkable finding was the development of macroorchidism in two mentally retarded Aarskog patients. The pathogenesis of macroorchidism in the fragile X syndrome and in other X-linked mental retardation syndromes is discussed.     

Epidemiology of human toxocariasis in northern Italy

Sera from both clinically healthy adults (2112) and adult patients (471) were tested to assess the main risk factors for Toxocara infection in humans in Northern Italy. The patient group included 257 adult epileptics, 76 Strongyloides stercoralis-infected adult patients and 142 institutionalized mentally retarded adult patients. The overall seroprevalence in healthy population was 3.98%. No significant differences in seroprevalence were observed for sex, residence (urban or rural) or dog ownership, while seroprevalence significantly increased with age (18- greater than 51 years). Highest seroprevalence values were found in outdoor or soil-related workers. The seroprevalence was 4.35% in adult epileptics, 9.21% in Strongyloides stercoralis-infected patients and 14.47%-10.61% among institutionalized mentally retarded patients. These findings suggest that the prevalent source of human toxocariasis is the environmental contamination by infectious eggs of the parasite.     

The Problem of Mental Retardation (A Tentative Working Hypothesis)

Within the general problem of mental retardation, the focus has traditionally been on the child's intellectual inadequacy, his feeblemindedness. This is entrenched in the very term used to designate these children, who are usually called feebleminded, or mentally retarded. All the other aspects of the personality of such a child are usually seen as phenomena arising secondarily as a function of the basic intellectual defect. Many investigators do not even see any essential affective and volitional differences between these children and normal children. …     

A cytogenetic study of a population of retarded females with special reference to the fragile(X) syndrome

Summary A cytogenetic survey of a population of 278 mentally retarded females on community placement is described. Thirty-five females had an aneuploid chromosome constitution and a single female was found to have the fra(X) syndrome. The frequency of the fra(X) syndrome among female retardates is discussed together with the apparent absence of de novo mutants among this class of fra(X) probands.