Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.

Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS. We believe this is the first case of BCS clinically confirmed by molecular testing for mutation in the EMG1 gene.

Association of postpartum maternal morbidities with children's mental, psychomotor and language development in rural Bangladesh.

Little is known from developing countries about the effects of maternal morbidities diagnosed in the postpartum period on children's development. The study aimed to document the relationships of such morbidities with care-giving practices by mothers, children's developmental milestones and their language, mental and psychomotor development. Maternal morbidities were identified through physical examination at 6-9 weeks postpartum (n=488). Maternal care-giving practices and postnatal depression were assessed also at 6-9 weeks postpartum. Children's milestones of development were measured at six months, and their mental (MDI) and psychomotor (PDI) development, language comprehension and expression, and quality of psychosocial stimulation at home were assessed at 12 months. Several approaches were used for identifying the relationships among different maternal morbidities, diagnosed by physicians, with children's development. After controlling for the potential confounders, maternal anaemia diagnosed postpartum showed a small but significantly negative effect on children's language expression while the effects on language comprehension did not reach the significance level (p=0.085). Children's development at 12 months was related to psychosocial stimulation at home, nutritional status, education of parents, socioeconomic status, and care-giving practices of mothers at six weeks of age. Only a few mothers experienced each specific morbidity, and with the exception of anaemia, the sample-size was insufficient to make a conclusion regarding each specific morbidity. Further research with a sufficient sample-size of individual morbidities is required to determine the association of postpartum maternal morbidities with children's development.

Neurological abnormalities and cognitive ability in first-episode psychosis.

BACKGROUND: It remains unclear if the excess of neurological soft signs, or of certain types of neurological soft signs, is common to all psychoses, and whether this excess is simply an epiphenomenon of the lower general cognitive ability present in psychosis. AIMS: To investigate whether an excess of neurological soft signs is independent of diagnosis (schizophrenia v. affective psychosis) and cognitive ability (IQ). METHOD: Evaluation of types of neurological soft signs in a prospective cohort of all individuals presenting with psychoses over 2 years (n=310), and in a control group from the general population (n=239). RESULTS: Primary (P<0.001), motor coordination (P<0.001), and motor sequencing (P<0.001) sign scores were significantly higher in people with any psychosis than in the control group. However, only primary and motor coordination scores remained higher when individuals with psychosis and controls were matched for premorbid and current IQ. CONCLUSIONS: Higher rates of primary and motor coordination signs are not associated with lower cognitive ability, and are specific to the presence of psychosis.

[Nutritional status of adopted Chinese girls in Spain]. / El estado nutricional de niñas chinas adoptadas en España.

INTRODUCTION: Given the increasing number of adoptions from China in countries such as Spain, a study was designed to know and assess the nutritional profile at arrival and its likely implication in global health status, growth, and development of adopted Chinese girls. PATIENTS AND METHODS: Eighty-five Chinese girls adopted in Spain during the 2002-2003 period and ages ranging 7-33 months of life were studied at the Social Pediatrics Unit of the "Niño Jesús" Hospital, Madrid. Datas regarding institution of origin, nutritional parameters (anthropometrical and biochemical), presence of associated diseases, and developmental retardations (psychomotor/bone age) were gathered. RESULTS: Waterlow's nutritional index showed a malnourishment rate of 11% based on Chinese reference tables, as compared to 58% based on Spanish tables, of which 82% was acute malnourishment. When comparing the efficacy of both nutritional assessment methods proposed by Waterlow and Gomez, there were no differences in detection of malnourishment in spite of the fact that the latter author gives priority to the weight/age index as a nutritional indicator at ages lower than 2 years. Eighteen percent of the girls were considered at (height/age < p10) of suffering chronic malnourishment, but this was only confirmed in 67% of the group according to Waterlow's criteria. Among assessed plasma parameters, decreased prealbumin, lymphocytes, iron, and transferrin stand out. The predominant pathological findings were thalassemia, dermatitis, psychomotor retardation, and ferropenic anemia. CONCLUSIONS: These results make us believe in a possible improvement in the conditions at Chinese orphanages. The low age at the time of adoption may justify the low incidence of chronic nutritional deficiencies. As a whole, anthropometrical / nutritional impairments found may be related with the consequences of carelessness and vulnerability of the adoption process. In any case, early diagnosis and implementation of appropriate therapy as soon as possible, as it is being done, is essential to provide appropriate growth and development of these girls.

Factor structure and clinical implications of child behavior checklist/1.5-5 ratings in a sample of girls adopted from China.

OBJECTIVE: This study assessed psychometric properties of the Child Behavior Checklist (CBCL/1.5-5) and explored clinical insights from its use in a sample of adopted Chinese girls. METHODS: Parental ratings were obtained on 707 adopted Chinese girls, ages 1.50-5.92 years (M = 3.24, SD = 1.26). Confirmatory factor analysis (CFA), employing robust weighted least squares estimation, was used to evaluate the instrument's seven-factor correlated structure. Profiles of scores were analyzed descriptively for clinical insights. RESULTS: The CFAs indicated that the fit of Achenbach and Rescorla's (2000 Manual for the ASEBA preschool forms & profiles. Burlington, VT: University of Vermont, Research Centre for Children, Youth, & Families) model to the data obtained from the adopted Chinese girls was acceptable using either a 2-point response scale or the original 3-point response scale for the 67 items from which the seven syndromes or correlated factors are derived. Values for the root mean square error of approximation (RMSEA) for the 2-point and 3-point response scales were .049 and .053, respectively. The RMSEA of .049 for the model using the dichotomously scored items was slightly better than what Achenbach and Rescorla (2000) reported for the same model (.06). CONCLUSIONS: The study provides additional evidence of the factorial validity of the CBCL/1.5-5 and supports its use with Chinese girls adopted into North American families. While the Chinese girls showed similar or better behavioral adjustment, compared to a reference group from the CBCL's normative sample, they tended to manifest higher levels of sleep problems.

Correlations of scores on the developmental test of visual-motor integration and copying test in a South African multi-ethnic preschool sample.

This study assessed the intercorrelations of scores on the Developmental Test of Visual-Motor Integration, the locally standardized Copying Test, and teachers' ratings of scholastic skills in a South African multi-ethnic preschool sample. The study also investigated whether cultural and socioeconomic factors might influence test data. Participants were 71 Black, 101 Coloured, and 66 White children attending preschools in a semirural district. Participants' ages ranged from 4 yr., 9 mo. to 7yr., 0 mo. (M=5.8 yr., SD= 0.3 yr.). Analysis yielded a correlation of .75 between the test scores and supports the suitability of the widely used Developmental Test of Visual-Motor Integration in a multi-ethnic sample. Scores on the Copying Test correlated higher with teachers' ratings. However, significant differences in test performance among groups by race and socioeconomic status suggest the rate of perceptual-motor development may be related to cultural factors. Normative data are reported for groups by race and socioeconomic status.

Regulatory disorders in Israeli infants: epidemiologic perspective.

The concept of regulatory disorders has been clinically defined. However, epidemiologic validity has not yet been investigated. Children between the ages of 6 and 36 months (N = 450) were included in the study. Two age groups were analyzed separately: 6 to 17 months (53%) and 18 to 36 months (47%). A specially designed questionnaire in Arabic and Hebrew pertaining to the physiologic and behavioral aspects of regulatory disorders was administered at the mother and child health clinics in northern Israel. It was established in the present study that a minimum of four regulatory items should be reported for the diagnosis of a regulatory disorder, as perceived by parents. Factor analysis revealed 6 and 10 different aggregates of regulatory items in the young and older age groups, respectively. The general prevalence of regulatory disorder as defined in the present study was found to be 18%. Age, maternal education, and sex were found to be significantly related to the prevalence of regulatory disorders. No difference in the prevalence of regulatory disorders between Arab and Jewish infants was found. Further validations of the concept of regulatory disorder as well as devising appropriate measurements in well-designed studies are warranted.

The Cohen syndrome in Israel.

Thirty-nine patients of 32 families affected by the Cohen syndrome are described with regard to clinical features, ethnic distribution and mode of presentation. Associated diseases, mode of inheritance and the apparent high prevalence of the syndrome among Jewish children are discussed.