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PubMedDate not supplied

AO incompatibility in a small group of developmentally disabled children.

Prevalence of fetal-maternal AO incompatibility was studied in a group of 150 children having developmental delay in the neuropsychological sphere. In a given population the number of A children having O mothers (AO incompatibility) should equal the number of O children having A mothers (OA compatibility). However, in the study group we observed 26 children in the former and 14 children in the latter category. This difference was statistically significant (p = 0.04). The frequency of AO incompatibility in the developmentally disabled population was higher (17.3%) than that in 437 child-mother pairs of the general population (10.1%). It was not possible to demonstrate association of any specific neurological defect with AO incompatibility, although the children born from AO incompatible pregnancies tended to start walking later than the other children of the study group.

ABO Blood-Group System↗
PubMed1985

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.

Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of Virginia. Two unrelated probands were identified among the 81,243 newborn infants who were screened. In addition, two siblings of one of these infants were found to be affected. Both probands had mild neurologic symptoms at two and four months, respectively, and the two older children had more severe neurologic abnormalities, cutaneous findings, and developmental delay at two and three years of age. However, none of the affected children had acute metabolic decompensation. Previous studies have shown that the administration of biotin to affected children can be a lifesaving procedure that can reverse acute symptoms and prevent irreversible neurologic damage. Our findings demonstrate that subtle neurologic abnormalities may appear as early as at two months of age and that developmental abnormalities may occur even in the absence of episodes of overt metabolic decompensation. Since screening and treatment are both inexpensive and effective and the incidence of the disease is well within the range of that of other metabolic diseases for which screening is performed, biotinidase deficiency should be added to the group of metabolic diseases for which screening is done in the neonatal period.

Amidohydrolases↗
PubMed2001

A parent-completed developmental questionnaire: follow up of ex-premature infants.

OBJECTIVE: Premature infants are at increased risk of developmental disability. Early identification of problems allows intervention to ameliorate or attenuate problems. A reliable screening tool allows triage of children in this high-risk population by identifying those unlikely to need full developmental assessment. To explore the test characteristics of an established parent-completed developmental assessment questionnaire 'Ages and Stages Questionnaire' (ASQ) in follow up of an Australian population of premature infants. METHODOLOGY: One hundred and sixty-seven children born prematurely with corrected ages 12- to 48-months attending the Growth and Development Clinic at the Mater Children's Hospital in Brisbane, Queensland, Australia; 136 questionnaires 'ASQ' were returned completed (81%) and were compared to formal psychometric assessment (Griffith Mental Development Scales for 12- and 24-months, Bayley Mental Development Intelligence Scale for 18-months, McCarthy General Cognitive Intelligence Scale for 48-months). Developmental delay was considered to be present if any of the above psychometric assessments fell below 1.0 standard deviations (SD). The ASQ cut-off used was 2.0 SD (US data derived means and SD). RESULTS: Aggregate results for all age groups comparing ASQ to psychometric assessments as 'gold standards' found the ASQ to have the following test characteristics: sensitivity (90%); specificity (77%); positive predictive value (40%); negative predictive value (98%); % over-referred (20%); % under-referred (1%); % agreement (79%). Likelihood ratio for children failing the ASQ was 3.8 and for passing the ASQ was 0.13. Twenty-one children with known disabilities were included in the study and in 14 of these, the ASQ overall score agreed with the psychometric assessment (67%). CONCLUSION: The high negative predictive value of the ASQ supports its use as a screening tool for cognitive and motor delays in the follow up of ex-premature infants. This would need to be combined with other strategies as part of a comprehensive follow up program for ex-premature infants.

Child, Preschool↗
PubMed2004

Influence of phosphine on hatching of Cryptolestes ferrugineus (Coleoptera: Cucujidae), Lasioderma serricorne (Coleoptera: Anobiidae) and Oryzaephilus surinamensis (Coleoptera: Silvanidae).

The hatching and mortality response of 0- to 48-h-old eggs of field strains of the stored-product insects Cryptolestes ferrugineus (Stephens), Lasioderma serricorne (F) and Oryzaephilus surinamensis (L) following phosphine fumigation for 24, 48 or 120 h at 27 (+/- 2) degrees C was investigated. Hatching was delayed and reduced in the first few days in a phosphine-resistant strain of C ferrugineus that was treated with 2.0-7.0 mg litre(-1) doses for 48 h (5-80% mortality) and with 1.0-2.0 mg litre(-1) for 120 h (44-84% mortality). In both the exposures there were significant increases in hatching on later days when compared with the corresponding controls. Developmental delay was, however, not evident in susceptible strains of C ferrugineus, L serricorne and O surinamensis that were exposed to phosphine for 24 h.

Animals↗
PubMed2006

Target of rapamycin (TOR) signaling controls epithelial morphogenesis in the vertebrate intestine.

The target of rapamycin (TOR) signaling pathway regulates cell growth and proliferation, however the extent to which TOR signaling mediates particular organogenesis programs remains to be determined. Here we report an examination of TOR signaling during zebrafish development, using a combination of small molecule treatment and morpholino-mediated gene knockdown. First, we amplified and sequenced the full-length cDNA for the zebrafish TOR ortholog (ztor). By in situ hybridization, we found that ztor is expressed ubiquitously in the early embryo, but displays a dynamic pattern in the gut between 48 and 72 h post-fertilization (hpf). Treatment of zebrafish embryos with rapamycin induced only a mild general developmental delay up to 72 hpf, but digestive tract development became arrested at the primitive gut tube stage. Rapamycin inhibited intestinal epithelial growth, morphogenesis and differentiation. Using morpholino-mediated gene knockdown of TOR pathway components, we show that this effect is mediated specifically by the rapamycin-sensitive TOR complex 1 (TORC1). Thus, in addition to regulating cell growth and proliferation, TOR signaling controls the developmental program guiding epithelial morphogenesis in the vertebrate intestine.

Animals↗
PubMed1997

Motor imitation in young children with autism: what's the object?

Two studies investigated the nature of motor imitation in young children with autism. Study 1 compared different types of motor imitation in 18 autistic children, 18 children with developmental delay, and 18 normally developing children. Results revealed weaker imitation skills for the autistic group, though all groups demonstrated a similar pattern of performance across different imitation domains. Imitation of body movements was more difficult than imitation of actions with objects, and imitation of nonmeaningful actions was more difficult than imitation of meaningful actions. Study 2 investigated concurrent and predictive relations between imitation and other developmental skills within a sample of 26 two-year-old children with autism. Results suggested that imitation of body movements and imitation of actions with objects represent independent dimensions. Imitation of body movements was concurrently and predictively associated with expressive language skills, and imitation of actions with objects was concurrently associated with play skills. Improvements in both motor imitation domains occurred over a 1-year period.

Analysis of Variance↗
PubMed2003

Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables.

Neonatal screening programs for congenital hypothyroidism (CH) were initiated in the 1970s to ensure early treatment in order to prevent mental retardation. With screening, developmental prognosis is considerably improved, but follow-up studies still report developmental delay compared to controls. To explain the delay, most studies have focused on effects of CH severity, supposedly caused by prenatal hypothyroidism. Nonoptimal treatment could also be an explanatory factor. Treatment guidelines have changed; now, a higher levothyroxine starting dose is recommended. In this review, we first summarize outcome studies in CH versus controls and in mild versus severe CH. Second, we report results on the association between levothyroxine treatment variables and developmental outcome. Six research groups have reported results on the association between levothyroxine starting dose and intelligence, and eight groups on the association between circulating thyroid hormones and intelligence. Most studies found a positive association between a high level of treatment, primarily treatment during the first year and later intelligence. However, negative associations between high-dose treatment and outcome have been reported, and the question of optimal treatment in relation to developmental outcome has not been answered. Effects of high levothyroxine dosage should be documented in samples that have been treated according to recent recommendations.

Adolescent↗
PubMed1994

Do infant and early childhood tests predict intelligence quotients better than maternal characteristics?

The sensitivity, specificity, and predictive values of infant and early childhood testing for subsequent intelligence tests at 3 and 5 years of age were assessed and compared to the sensitivity, specificity, and predictive value of maternal education for the same. The study was based on prospective surveillance of a population of infants attending the Maternal and Child services in western Jerusalem. The sensitivity, specificity, and predictive value of the 9- and 24-month tests were low, thus leading to labeling of false positives and inadequate detection of those with developmental delay. Maternal education was shown to be the single best predictor for intellectual performance on the 3- and 5-year test in the above analysis, as well as in a multivariate model where the 9- and 24-month tests, maternal education, origin, birth order, and sex were introduced as independent variables. It is recommended to take a detailed history, listen to parents' complaints, and use developmental testing selectively for children suspected to have problems, and not to apply developmental tests as a routine for all children in well-child care.

Child↗
PubMed1996

In vitro development of spontaneously activated bovine oocytes.

PURPOSE: The aim of this study was to compare the development of bovine parthenogenetic and in vitro fertilization-derived (IVF) embryos. Oocytes were matured, fertilized, or allowed to activate spontaneously by aging and then cultured for up to 14 days in vitro. Cleavage and development rates, morphology, ultrastructure, and transcriptional activity were compared. RESULTS: Very few parthenogenotes (7.5% of aged oocytes) were obtained and none developed to the hatched blastocyst stage. The pattern of 3H-uridine incorporation at the two-, four-, and eight-cell stages was similar in both types of embryos. Morphological study, however, revealed that none of the parthenogenotes showed features associated with long-term development: they were developmentally delayed and usually arrested before reaching the blastocyst stage (only 0.5% of aged oocytes developed to the blastocyst stage). Structural differences between parthenogenotes and the IVF-derived embryos were observed at all stages of development. CONCLUSIONS: Structural observation suggested that failure of long-term development of bovine parthenogenotes may have a metabolic basis. Some functional changes appeared to coincide with chronological age rather than developmental age. Even though development of parthenogenotes was limited; some features of nuclear maturation and activation of the embryonic genome occur without contribution of the paternal genome.

Age Factors↗
PubMed2000

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most distal band (22q13) appears to define yet another neurobehavioral phenotype. In addition to our report, there are about 17 other cases published of this particular deletion syndrome. We describe three children who share features of developmental delay and pervasive behaviors in addition to normal to advanced growth patterns. Results of cytogenetic analysis suggest that the 3 patients share a deletion affecting the terminal 22q13 region. Two were found to have a cryptic deletion, in the third it was detected by conventional cytogenetics. The cryptic deletions were demonstrated using fluorescent in situ hybridization (FISH), where the control probe for the DiGeorge/VCFS region was deleted. While there remain gaps in our understanding of this particular deletion syndrome, we propose that patients with normal or advanced growth, significantly delayed speech, deviant development and pervasive behaviors, with minor facial dysmorphism, be screened for this deletion.

Autistic Disorder↗
PubMed2006

Intelligence and adaptive function in children diagnosed with brain tumour during infancy.

BACKGROUND: Late effects of treatment in children diagnosed and treated for brain tumours in infancy is a major concern. Assessment of infants presenting with brain tumours is difficult and there is little information available regarding the development of infants prior to treatment and hence the impact of the tumour itself on developmental outcomes. AIM: To describe the development of children diagnosed with brain tumours in infancy and to document their cognitive and adaptive function at school entry. METHOD: Infants were psychologically evaluated at the time of diagnosis of a brain tumour and during their fifth or sixth year in preparation for school entry. RESULTS: Children diagnosed with brain tumours in infancy display developmental delays in a number of areas of adaptive function. By the time these children are school age they display further compromise in cognitive and academic skills and adaptive behaviour. Higher levels of deficit at follow-up were associated with tumour location in the supratentorium, younger age at diagnosis and longer time since diagnosis. The effect of radiotherapy could not be determined because of differing degrees of developmental compromise in the treatment groups at baseline. CONCLUSION: Brain tumours in infancy confer a risk of poor developmental progress at the time of diagnosis. These children display additional compromise of development by the time they reach school age. Research protocols evaluating the impact of treatment in infants diagnosed with brain tumours need to take account of the developmental status of the child at diagnosis.

Adaptation, Psychological↗
PubMed1984

Hospitalized cases of nonorganic failure to thrive: the scope of the problem and short-term lay health visitor intervention.

This paper describes the characteristics of thriving and failure to thrive (FTT) children and their mothers and examines the effect of short-term lay health visitor intervention in cases of nonorganic failure to thrive (NO FTT). Twenty-five FTT children and mothers received lay health visitor (LHV) intervention in addition to other community and medical treatment; 25 other FTT children and mothers did not receive the LHV intervention but did receive all other medical and community treatment. Twenty-five thriving children and mothers were matched with the FTT children and mothers in the LHV group on the child's age at intake, sex, birth weight, and the mother's age, ethnicity, and number of living children. At initial assessment, the FTT and thriving groups were found to be comparable on demographic factors, infant birth weight percentiles, apgar scores, complications of pregnancy or delivery, and separations in the newborn period. There were more premature births in the LHV group although the proportion of premature births for the FTT and thriving groups overall were similar. A majority of mothers in the FTT groups had negative memories of childhood in contrast to more positive memories in the thriving group. At initial assessment, the majority of thriving children were developmentally normal and had increased from their birth weight percentiles whereas all of the FTT children had decreased from their birthweight percentiles and over half were developmentally delayed. There were clear differences in mother-child interaction patterns in the thriving and FTT groups. Three patterns of interaction were identified in the FTT group: benign neglect, incoordination, and overt hostility. Intervention had no measurable effect on the child's weight, development, or interaction patterns. Only 8 of 37 FTT children reevaluated 6 months later showed "catch up" growth and only 7 had improved in developmental score category. Patterns of interaction were found to persist over the 6 months in all cases. One to three year follow-up of 44 families emphasized the severity of the condition and the need for differentiation of the severity of the disturbance in the mother-child relationship and for more intensive intervention than was available in this study. Of these 44 cases, 2 children had died, 5 had been physically abused or further neglected, and 10 were in alternative care arrangements.

Adult↗
PubMed2006

Repeated administration of diphenyl diselenide to pregnant rats induces adverse effects on embryonic/fetal development.

The present study was carried out to investigate the effects of diphenyl diselenide, (PhSe)(2), on embryo-fetal development. Dams were treated subcutaneously with 1.5, 3.0 and 6.0 mg/kg (PhSe)(2) from days 6 to 15 of pregnancy. After cesarean section at gestation day (GD) 20, external and skeletal abnormalities were evaluated. A decrease in maternal body weight gain was found in (PhSe)(2) groups, indicating maternal toxicity. There was a reduction in the fetal weight and in crown-rump (CR) length of fetuses at three doses tested. The occipito-nasal length decreased in fetuses from dams exposed to 3.0 mg/kg (PhSe)(2). Signs of delayed ossification in the skull, sternebrae and limbs were observed in all (PhSe)(2) groups, revealing a relation between morphological alterations and growth retardation in fetuses, but none of the changes appeared to be dose-dependent. Exposure of dams to (PhSe)(2) resulted in altered placental morphology that may have contributed to adverse reproductive outcomes. We concluded that (PhSe)(2) is toxic to dams and induces developmental delay of the fetal skeleton, but does not cause externally visible malformations in rat fetuses, in this experimental procedure.

Abnormalities, Drug-Induced↗
PubMed1983

Congenital myopathy without specific features (minimal change myopathy).

Three patients including a father and his daughter as well as a sporadic case who had a history of delayed developmental milestones showed symptoms of generalized muscle weakness predominantly in the neck flexors, high-arched palate, slender stature, myopathic face and nasal tone vocalisation. Histological and histochemical examinations on the biopsied muscles demonstrated minimal nonspecific changes; mild variation in fiber size, slight abnormality in fiber type distribution and an increased number of undifferentiated type 2C fibers. The abnormal muscle pathology was assumed to have resulted from delayed muscle fiber growth and differentiation due to a probable defective neural influence upon the developing muscles.

Adult↗
PubMed2003

Bone mineral density in children with nocturnal enuresis.

In enuretic children there is a significantly higher incidence of fine and gross motor clumsiness, delayed developmental milestones, slower and poor linear growth, and these patients are shorter than normal children. Skeletal maturation of enuretic children has been determined with bone age in only two studies before, but to our knowledge bone mineral content of enuretic children has not previously been determined by bone mineral density measurement. Bone mineral density was measured by the dual-energy x-ray absorptiometry method in children with nocturnal enuresis and compared with that of a control group to detect whether there were any delay in bone development and any decrease in bone mass. Thirty enuretic children were compared with a control group of 40 healthy children with respect to body height and weight measurements, daily calcium intake, serum calcium, phosphorus and ALP levels, chronological and bone ages, and bone mineral density measurements. Of the parameters compared, bone age was significantly retarded, and bone mineral density was significantly reduced in children with enuresis (8.3 +/- 1.9 vs 9.7 +/- 2.3 years; p = 0.01, and 0.5476 +/- 0.07 vs 0.6077 +/- 0.05 g/cm2; p = 0.001, respectively). Chronological ages demonstrated a significant correlation with the bone ages in both the study and control groups (r = 0.852, p < 0.001, and r = 0.844, p < 0.001, respectively). However, the mean chronological age was significantly greater than the mean bone age in the study group (p < 0.001), whereas the mean chronological age was not significantly different from the mean bone age in the control group (p = 0.514). To clarify the exact mechanism responsible for these manifestations of skeletal maturation retardation, the relationship between the maturational delay of the central nervous system connections or the effect of any perinatal insult and the retardation in skeletal maturation remains to be determined.

Age Determination by Skeleton↗
PubMed2006

A survey of the health, sleep, and development of children adopted from China.

The health, development, and sleeping patterns of 240 children adopted from China were examined using a survey research approach. Eighty percent of the children were 18 months of age or younger when adopted, and 98 percent of the children were girls. Sixty-two percent of the children were reported to have been developmentally delayed at the time of adoption; of this number, 91 percent were reported to have had delays in motor development. Of the families, 52 percent reported that children experienced sleep problems, but only 9 percent of the total sample experienced significant sleep difficulties. Implications for social workers are also discussed.

Adoption↗
PubMed1982

A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias.

A new syndrome of craniosynostosis is described in two unrelated male children. Associated anomalies include severe exophthalmus; maxillary and mandibular hypoplasia; soft tissue hypertrophy of the palatal shelves; low-set ears with soft, pliable auricles; thoracic anomalies; multiple abdominal hernias; arachnodactyly; and camptodactyly. Functional disorders include infantile hypotonia, developmental delay, mental retardation, and obstructive apnea. Karyotypes were normal. An etiology for this recurrent pattern syndrome has not yet been established in the absence of a family history of similar anomalies in both cases.

Abnormalities, Multiple↗