Consanguinity analysis in Israeli mental retardates.

Consanguinity rates were analyzed in 904 families of retardates studied in 11 Israeli Jewish ethnic groups. It was estimated that the representative recessive gene frequency is .00518, implying that a gene equilibrium maintained by mutation alone is improbable and that some other hypothesis should be considered. The proportions of homozygotes among the following idiopathic subgroups are estimated as follows: 18%-19% homozygotes among severe idiopathic retardates with nonconsanguineous parents and no affected siblings; 74%-76% homozygotes among severe idiopathic retardates with first-cousin parents and no affected siblings; 5% homozygotes among mild idiopathic and idiopathic-familial retardates with nonconsanguineous parents; and 41% homozygotes among mild idiopathic and idiopathic-familial retardates with first-cousin parents. The estimated number of major gene loci within ethnic groups is 17-21 for severe idiopathic retardation and 43-61 for mild idiopathic retardation. These findings provide a basis for genetic counseling of families with single retardates of unknown cause. They can also be useful in epidemiologic studies of nongenetic factors. The great prevalence of common gene defects causing retardation, coupled with the rarity of disorders of amino acid metabolism in the same series, seem to indicate that further emphasis on amino acid metabolism may be nonproductive in the scientific study of retardation and that other biochemical approaches should be encouraged.     

The effect of social selection due to familial mental retardation on the marriage frequency of normal individuals

Abstract

This paper compares the marriage frequencies of normal individuals with or without mental retardates in their nuclear families for the different combinations of sex and parental and sib phenotypes. Multivariate analysis indicates that there is a difference in the marriage frequencies of normal individuals with and without retarded family members caused by social response to the trait. This response differs according to the sex of the normal individual, although the social factors underlying this sex difference are not clear.     

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.     

Patterns of psycholinguistic development in the severely mentally retarded: A hypothesis

Abstract

We hypothesize that the loss of psycholinguistic skills in some cases of severe mental retardation caused by prenatal disruption closely approximates ontogenetic patterns of language acquisition and phylogenetic patterns of cognitive development. This hypothesis was tested on 131 trainable mental retardates divided into four etiological classes. The results support the hypothesis and show that certain patterns of loss occur only in mental retardation resulting from prenatal disruption and characterized by postnatal developmental delay and do not occur in postnatal environmentally caused retardation.     

儿童运动发育迟缓与血碱性磷酸酶、血25-羟维生素D3表达水平的相关性

摘要 目的：探讨儿童运动发育迟缓与血碱性磷酸酶(Alkaline phosphatase,ALP)、血25-羟维生素D3[25(OH)D3]表达水平的相关性。方法：2016年10月到2018年6月选择在本院儿保科门诊就诊500例(6~12月龄)的儿童作为研究对象,诊断儿童发育迟缓的发生率,检测发育迟缓患儿血清ALP与25(OH)D3水平,Gesell测评评定小儿的运动发育状况,所有患儿每天均给予了维生素D3 400 IU,对于发育迟缓患儿每天给予维生素D 800 IU~1200 IU补充,治疗3个月,再做Gesell测评评估其运动发育水平,对比治疗后运动发育情况,并分析影响儿童运动发育的相关因素。结果：在500例小儿中,判断为运动发育迟缓120例(迟缓组),占比24.0 %。两组小儿的性别、胎龄、分娩方式、出生体重、头围、身长等对比差异无统计学意义(P>0.05)。迟缓组的血清ALP水平高于非迟缓组(P<0.05),25(OH)D3水平低于非迟缓组(P<0.05)。迟缓组的大动作、精细运动、适应性行为、语言、个人社交评分都低于非迟缓组(P<0.05),迟缓组治疗后,大动作、精细运动、适应性行为、语言、个人社交评分均显著升高(P<0.05)。在120例发育迟缓中,Pearson分析显示ALP、25(OH)D3与小儿运动迟缓发育具有相关性(P<0.05);二分类多因素条件Logistic分析结果显示ALP、25(OH)D3都影响儿童运动发育迟缓的主要因素(P<0.05)。结论：儿童运动发育迟缓与血清ALP、25(OH)D3水平存在相关性,两者的联合检测可为儿童发育迟缓的早期诊断提供实验依据,经过维生素D治疗后,能显著的改善其患儿的运动发育,有很好的应用价值。     

Asthma-Like Symptoms in Homeless Children in the Greater Paris Area in 2013: Prevalence,Associated Factors and Utilization of Healthcare Services in the ENFAMS Survey

IntroductionAsthma remains poorly studied in homeless children. We sought to estimate the prevalence of asthma-like symptoms (ALS) and to identify the factors associated with ALS and healthcare service utilisation.ResultsThe prevalence of ALS among the children was 19.9%. Poor housing sanitation was significantly associated with ALS, as being born in the European Union. Most of the children with ALS had used healthcare services (85.4%). The main barriers to accessing such services were having lived in France for less than 49 months, having difficulties in French and living in poor housing conditions.ConclusionALS prevalence seemed lower than in the general child population, possibly because of the children''s origins. Environmental factors associated with ALS point to the need to improve the indoor environment of family shelters. The relatively high rate of healthcare service utilisation should not overshadow existing barriers.     

Childhood Psychosis or Mental Retardation: A Diagnostic Dilemma: II. Pediatric and Neurological Aspects

A pediatric and neurological study of 62 retarded psychotic children revealed more family psychopathology, complications of pregnancy, and serious postnatal illness than in a control group. Motor development and speech development were slow in psychotic children, but obstetrical complications at the time of birth were not significantly more frequent than in controls. Abnormal physical findings in psychotic children were mainly congenital anomalies. Neurological deficits included mental retardation, speech defects, strabismus, and other non-localizing signs. EEG tracings were abnormal in 27 of 51 psychotic patients. At least 46 of the 62 psychotic children studied had evidence of organic brain disease.Although an inadequate family background may be associated with the development of psychosis, a severe disturbance of temporal and frontal lobe function may produce psychotic symptoms with or without familial predisposition.     

Estimating the Inbreeding Depression on Cognitive Behavior: A Population Based Study of Child Cohort

BackgroundCognitive ability tests are widely assumed to measure maximal intellectual performance and predictive associations between intelligence quotient (IQ) scores and later mental health problems. Very few epidemiologic studies have been done to demonstrate the relationship between familial inbreeding and modest cognitive impairments in children.ObjectiveWe aimed to estimate the effect of inbreeding on children’s cognitive behavior in comparison with non-inbred children.MethodologyA cohort of 408 children (6 to 15 years of age) was selected from inbred and non-inbred families of five Muslim populations of Jammu region. The Wechsler Intelligence Scales for Children (WISC) was used to measure the verbal IQ (VIQ), performance IQ (PIQ) and full scale IQ (FSIQ). Family pedigrees were drawn to access the family history and children’s inbred status in terms of coefficient of inbreeding (F).ResultsWe found significant decline in child cognitive abilities due to inbreeding and high frequency of mental retardation among offspring from inbred families. The mean differences (95% C.I.) were reported for the VIQ, being −22.00 (−24.82, −19.17), PIQ −26.92 (−29.96, −23.87) and FSIQ −24.47 (−27.35, −21.59) for inbred as compared to non-inbred children (p>0.001). The higher risk of being mentally retarded was found to be more obvious among inbred categories corresponding to the degree of inbreeding and the same accounts least for non-inbred children (p<0.0001). We observed an increase in the difference in mean values for VIQ, PIQ and FSIQ with the increase of inbreeding coefficient and these were found to be statistically significant (p<0.05). The regression analysis showed a fitness decline (depression) for VIQ (R² = 0.436), PIQ (R² = 0.468) and FSIQ (R² = 0.464) with increasing inbreeding coefficients (p<0.01).ConclusionsOur comprehensive assessment provides the evidence for inbreeding depression on cognitive abilities among children.     

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.     

经颅磁刺激联合语言训练对儿童语言发育迟缓的应用价值

目的:探讨经颅磁刺激联合语言训练对儿童语言发育迟缓的应用价值。方法:选取2015年3月-2016年3月我院收治的100例语言发育迟缓儿童作为本次研究的对象,采用随机数字表法将患者分为对照组与观察组各50例,对照组采用常规语言训练治疗,观察组则采用经颅磁刺激联合语言训练治疗,两组疗程皆为3个月。根据汉语儿童语言发育迟缓评定法和儿童神经心理发育测试分别评价治疗效果以及治疗前后发育商的变化情况。结果:观察组治疗有效率为98.0%,显著高于对照组的87.0%(P0.05);治疗后1、2、3月两组语言发育商、发育商较治疗前均有了显著改善,且观察组显著优于对照组(P0.05);观察组发育商正常率为80.0%,显著高于对照组的66.0%(P0.05)。结论:经颅磁刺激联合语言训练疗效理想,能够有效改善语言发育迟缓儿童的发育商,值得在临床上推广。     

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.     

血清胱抑素C、血肌酐及血尿素氮对窒息新生儿肾功能损害的临床意义

目的:探讨体外反搏联合言语训练治疗脑性瘫痪并语言发育迟缓儿童的临床疗效。方法:选择2015年12月至2017年12月在上海市儿童医院康复科普通门诊确诊的脑瘫并语言发育迟缓患儿52例,按照随机数字表法将其随机分为治疗组和对照组,每组26例。对照组仅给予言语训练治疗,治疗组给予体外反搏联合言语训练治,以4周1个疗程,两组均治疗3个疗程。治疗前后,采用中国康复研究中心汉语版儿童语言发育评定法s-s法、Gesell发育评分法评价和比较患儿言语发育商和认知发育商的变化。结果:治疗后,两组言语发育商和认知发育商均显著高于治疗前,且治疗组言语发育商和认知发育商均显著高于对照组,差异均有统计学意义(均P0.01)。结论:体外反搏联合言语训练较单纯言语训练可更有效改善脑瘫并语言发育迟缓患儿的言语发育和认知发育。     

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.     

Mental Retardation Today

Mental retardation is an impairment of intellect in which the intelligence quotient is less than 85. It is a symptom which has more than 100 known causes. Mental retardation should be diagnosed early in life. There are many specific conditions for which therapy is available and many less specific contributing causes which may be obviated by sound medical care. Many of these are reviewed. Since 90% of retarded children will remain in the community, suggestions for management of the child and the problems of the family were included. The function of the special clinic for retarded children was briefly stated. Early separation of the child from the family was discouraged, and the principal reasons for long-term residential care were stated.     

Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.

The incidence of the autosomal folic-acid-sensitive fragile sites in 524 institutionalized retardates (.0095) was found to be significantly higher than in 1,019 unselected neonates (.00098), suggesting that heterozygosity for these fragile sites may not be as harmless as previously thought. When one of the parents of an index case was found to carry the fragile site, that parent was always the mother. The fragile site at Xq27 was not found among the neonates studied, but was present in 1.6% of the institutionalized retarded males examined; if this fragile site occurs in normal males, then it does so rarely. Further cytogenetic studies of fragile sites are required on both normal and abnormal populations.     

X-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers

Summary A large family is reported in which mental retardation associated with the fragile site at Xq28 was found. Three normal males seemed to have transmitted the trait through their daughters to affected grandchildren.A total of 19 family members were investigated cytogenetically. Mentally retarded males showed macroorchidism and the fragile X. Three mentally retarded females were found, with the fragile X in a high percentage of cells; in contrast, the obligate carriers showed no or only few cells with the fragile X.     

Exposure to lead and cadmium and associated factors in children 0–17 years of age living in an area contaminated by metals

This article analyzes some characteristics and conditions associated with Pb and Cd exposure using an exploratory approach, relating them to the levels of Pb and Cd in blood (blood lead levels [BLL] and blood cadmium levels [BCL]) in children 0–17 years of age living in an area contaminated by metals. BLL and BCL values were determined for each child and questionnaires were applied to their parents. Significant differences were found in mean BLL values according to race (p = .03), family history of intoxication by Pb (p = .004), if a family member was a metallurgy worker (p = .047), if a family member performed activities in the area of metallurgy (p = .03), and mother's employment status (p = .014). The following characteristics were associated with increased risk of BLL above 5.0 mg/dL in children: race, having a family record of intoxication by lead, and having a parent who worked at the plant. BLC values are not significantly associated with any of the studied characteristics. It may be concluded that BLL values are influenced by the social indicators of the population.     

Asociación de polimorfismos en el gen FTO con la obesidad mórbida en la población extremeña

ObjectiveTo select individuals whose morbid obesity can be attributed mainly to their individual genetic profile. After excluding patients with potential monogenic syndromes or diseases associated with obesity, we evaluated the association of the single nucleotide polymorphisms (SNPs) rs1861868 and rs9939609 of the fat-mass and obesity-associated FTO gene with an inherited predisposition to morbid obesity.Patients and methodsWe evaluated 270 patients with morbid obesity and onset before the age of 14 years and selected 194 due to their phenotypes and family history; 289 control individuals were included. The rs1861868 and rs9939609 variants, located in the FTO gene, were genotyped. Genotype and haplotype frequencies were compared between cases and controls.ResultsThe A allele of rs9939609 was associated with severe obesity starting in childhood among the Spanish population. The rs1861868 G/rs9939609 A haplotype of the FTO gene was also significantly associated with severe obesity in our population, with an odds ratio of 3.03 (95% confidence interval, 1.74–5.27).ConclusionAnalysis of the genetic basis of obesity requires rigorous selection of cases. In this study, the association of the rs9939609 SNP with obesity widely described in distinct populations was confirmed among overweight Spanish children. Genotyping rs1861868 allowed us to identify the first risk haplotype in the FTO gene, which is located in the adjacent haplotype block containing rs9939609. In-depth study of the variability of the FTO gene is essential to define its deleterious capacity.     

Influence of variation in birth weight within normal range and within sibships on IQ at age 7 years: cohort study

ObjectiveTo examine the relation between birth weight and measured intelligence at age 7 years in children within the normal range of birth weight and in siblings.DesignCohort study of siblings of the same sex.Setting12 cities in the United States.Subjects3484 children of 1683 mothers in a birth cohort study during the years 1959 through 1966. The sample was restricted to children born at ⩾37 weeks gestation and with birth weights of 1500-3999 g.ResultsMean IQ increased monotonically with birth weight in both sexes across the range of birth weight in a linear regression analysis of one randomly selected sibling per family (n= 1683) with adjustment for maternal age, race, education, socioeconomic status, and birth order. Within same sex sibling pairs, differences in birth weight were directly associated with differences in IQ in boys (812 pairs, predicted IQ difference per 100 g change in birth weight =0.50, 95% confidence interval 0.28 to 0.71) but not girls (871 pairs, 0.10, −0.09 to 0.30). The effect in boys remained after differences in birth order, maternal smoking, and head circumference were adjusted for and in an analysis restricted to children with birth weight ⩾ 2500 g.ConclusionThe increase in childhood IQ with birth weight continues well into the normal birth weight range. For boys this relation holds within same sex sibships and therefore cannot be explained by confounding from family social environment.

What is already known on this topic

IQ at school age is linked to birth weight among low birthweight babiesSome evidence suggests the association might also apply to children of normal birth weight

What this study adds

IQ at age 7 years is linearly related to birth weight among children of normal birth weightThe relation was not due to confounding by maternal or socioeconomic factorsIQ is also associated with differences in birth weight between boy sibling pairs but not girls