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PubMed2005

[Significance of laboratory studies of neurobehavioral and developmental toxicities--transgenerational effects of styrene exposure].

Recently, health problems caused by environmental chemical substances present in daily life have been increasing, particularly developmental toxicities, the effects of which often become apparent only after a long developmental period. It is difficult to determine adverse transgenerational effects. Therefore, we must recognize important indices to measure neurobehavioral and developmental effects. The assessment of such effects indices, is difficult and few neurobehavioral data are available compared to teratological data. Thus, through studies using laboratory animals, analyses of the mechanisms, exposure periods, doses and neurobehavioral effects are necessary. We have reviewed studies of the volatile monomer of the organic solvent styrene with regard to reproductive and developmental toxicities in laboratory animals. The styrene monomer crosses through the placenta; however, fetal excretion is less than maternal excretion. Therefore, it seems that a dose of styrene that does not affect the mother may be toxic for the fetus. We reported that exposure to low-dose styrene results in physical and neurobehavioral developmental delays, as well as decreases in enzyme activity and neurotransmitter secretion level. To prevent neurobehavioral toxicity, we need further studies to obtain precise data on chemical-biological interactions developmental toxicity and dose-response relationships. A key step towards effective prevention can also be obtained from studies in which animals are continuously exposed to chemicals for one or more generations. Thereafter, we must extrapolate developmental toxicity data from animals to humans. In this paper, we provide the information on developmental toxicity.

Animals↗
PubMed1997

Role of imprinting in abnormal human development.

Parental-specific differences in the expression of certain genes (imprinting), may be implicated in the pathogenesis of anomalous gestations, but only a minority manifest themselves as malformation syndromes. Delayed or lost gestations are much more frequent sequelae, as are those disorganized to such an extent that they are usually classified as neoplastic rather than developmental processes. Expression levels from imprinted loci are dependent not only on the number of genomic alleles present and their structural integrity, but also on their specific parental origin. Anomalous expression of imprinted genes during development is sometimes caused by imbalanced representation of maternal and paternal contributions, 'uniparental disomy'. Uniparental parthenogenetic or androgenetic gestations form ovarian teratomas or complete hydatidiform moles, respectively--examples of an arrested developmental program. Uniparental disomy of individual chromosomes or portions thereof has been associated with developmental delay or gestational loss. The phenotype of hemizygous mutation or deletion of imprinted genes is modified by the parental origin of the mutant copy, with dichotomous syndromes defined by parental inheritance, as in the Prader-Willi and Angelman syndromes. Lastly, failure of the imprinting process itself, 'loss of imprinting', may quantitatively alter expression levels of normally imprinted transforming or tumor-suppressing genes, thereby increasing risk for developmental tumors such as Wilms' tumor or choriocarcinoma.

Abortion, Spontaneous↗
PubMed1986

Aberrant parenting and delayed offspring development in rats exposed to lithium.

Natural lithium (Li) salts, including those used routinely in manic depressive illness, consist of two stable nonradioactive isotopes: lithium-7 (Li-7) (92.6%) and lithium-6 (Li-6) (7.4%). Female rats (3 months old) were treated with either Li-7 chloride or Li-6 chloride or were untreated prior to and during gestation and lactation. Birth weights were lower for Li-treated animals than for normal pups. Maternal behavior of all Li-treated mothers was altered. Li-7 mothers ignored their pups and nursed them infrequently. Li-6 mothers groomed and nursed their pups more often than normal mothers. All pups showed delays in development, especially in the maturation of depth perception. Although Li-6-treated dams were over-protective mothers, their offspring showed longer developmental delays than those of Li-7-treated offspring.

Animals↗
PubMed2001

Tyrosinemia type II: nine cases of ocular signs and symptoms.

PURPOSE: To report nine cases of tyrosinemia type II, with ocular signs and symptoms. METHODS: Participants included nine patients (18 eyes) who were followed for a mean follow-up period of 6.5 years (range, 2 to 8 years). Intervention included dietary restriction of tyrosine and phenylalanine, which led to resolution of ocular and cutaneous lesions, improved behavior in one patient, and may have prevented developmental delay in others. The main outcome measures were visual acuity and serum tyrosine levels to determine the response to dietary therapy. Intelligence testing and developmental screening were performed when appropriate. RESULTS: All patients presented with ocular signs and symptoms as the primary manifestation of disease and serve to illustrate the typical ocular findings of this syndrome. Three patients presented with cutaneous manifestations, and one patient had mild mental impairment at the time of diagnosis. CONCLUSIONS: Recalcitrant pseudodendritic keratitis may be the presenting sign in tyrosinemia type II. Awareness of the presenting signs and symptoms may accelerate the diagnosis and dietary intervention. Initiation of a tyrosine-restricted and phenylalanine-restricted diet in infancy is most effective in preventing cognitive impairment.

Child↗
PubMed1981

State organization in neonates: developmental inconsistency indicates risk for developmental dysfunction.

Twenty-two healthy full-term infants were observed for 7 continuous hours in their homes weekly on weeks 2, 3, 4, and 5. Code recordings of their behavioral states and any mother-infant interactions were made every 10 seconds. An analysis was made of the distribution of the infant's state behaviors during the time it was left alone (mean = 279.6 minutes in 7 hours). The states were Waking Active, Quiet Alert, Fuss or Cry, Drowse or Transition, Active Sleep, and Quiet Sleep. Four state profiles were obtained for each infant, one for each week of observation; then a single quantitative measure of profile consistency over weeks was calculated. Infants with the four lowest profile consistency indices had major developmental problems between 3.5 and 30 months (p less than .001): one had aplastic anemia; a second had hypsarrhythmia, a third died of SIDS, and the fourth was hyperactive, both at home and in a testing situation. Other infants with low consistency scores showed minor developmental delays at 6 months and at 30 months. None of the infants at the upper end of the consistency continuum showed evidence of any developmental dysfunction by 30 months of age. The findings indicate that developmental inconsistency in state organization during the neonatal period is predictive of risk for later development.

Child Behavior↗
PubMed2006

The influence of nuclear content on developmental competence of gaur x cattle hybrid in vitro fertilized and somatic cell nuclear transfer embryos.

In nondomestic and endangered species, the use of domestic animal oocytes as recipients for exotic donor nuclei causes the normal pattern of cytoplasmic inheritance to be disrupted, resulting in the production of nuclear-cytoplasmic hybrids. Evidence suggests that conflict between nuclear and cytoplasmic control elements leads to a disruption of normal cellular processes, including metabolic function and cell division. This study investigated the effects of nuclear-cytoplasmic interactions on the developmental potential of interspecies embryos produced by in vitro fertilization and somatic cell nuclear transfer: cattle x cattle, gaur x cattle, hybrid x cattle. Cattle control and hybrid embryos were examined for development to the blastocyst stage and blastocyst quality, as determined by cell number and allocation, apoptosis incidence, and expression patterns of mitochondria-related genes. These analyses demonstrated that a 100% gaur nucleus within a domestic cattle cytoplasmic environment was not properly capable of directing embryo development in the later preimplantation stages. Poor blastocyst development accompanied by developmental delay, decreased cell numbers, and aberrant apoptotic and related gene expression profiles, all signs of disrupted cellular processes associated with mitochondrial function, were observed. Developmental potential was improved when at least a portion of the nuclear genome corresponded to the inherited cytoplasm, indicating that recognition of cytoplasmic components by the nucleus is crucial for proper cellular function and embryo development. A better understanding of the influence of the cytoplasmic environment on embryonic processes is necessary before interspecies somatic cell nuclear transfer can be considered a viable alternative for endangered species conservation.

Animals↗
PubMed2005

Changing chromatin dynamics and nuclear organization during differentiation in Drosophila larval tissue.

Global changes in gene expression and exit from the cell cycle underlie differentiation. Therefore, understanding chromatin behavior in differentiating nuclei and late G1 is key to understanding this developmental event. A nuclear event that has been shown to specifically occur in late G1 is the association of two heterochromatic blocks in Drosophila. The brown(Dominant) (bw(D)) chromosome of Drosophila melanogaster contains a large block of heterochromatin near the end of 2R. This distal block associates with centric heterochromatin (2Rh), but not until at least 5 hours into G1. We used the bw(D) allele as a model for nuclear organization to determine whether its association with the heterochromatic compartment of the second chromosomes (2Rh) strictly requires differentiation or if this change is a stochastic event, its occurrence being proportional to time spent in G1/G0 phase of the cell cycle. Fluorescence in situ hybridization on eye imaginal discs showed increased association between the bw locus and 2Rh in differentiated cells. Interestingly, an increase in the number of nuclei showing bw(D)-2Rh association in the brains of developmentally delayed larvae that were compromised for differentiation was also observed. Live fluorescence imaging showed that the kinetics of chromatin movement remains unchanged in the developmentally arrested nuclei. These observations suggest that nuclear reorganization is not directly controlled by specific inductive signals during differentiation and that this nuclear reorganization can happen in a cell, regardless of differentiation state, that is arrested in the appropriate cell cycle stage. However, we did see changes that appear to be more directly correlated with differentiation. Dynamic imaging in eye imaginal discs showed that the movement of chromatin is more constrained in differentiated cells, implying that confinement of loci to a smaller nuclear space may help to maintain the changed organization and the transcription profile that accompanies differentiation.

Alleles↗
PubMed2003

Interstitial deletion on chromosome 5q33.3q35.1 in a 6-year-old girl -- neuropsychological findings and follow-up in an extremely rare chromosomal aberration.

Interstitial deletion on chromosome 5q33.3q35.1 is an extremely rare chromosomal aberration for which a characteristic syndrome could not yet be delineated. In most patients with 5q deletions severe mental retardation is described. Recently, Spranger et al. (2000) described the case of a 4-year-old girl with a de novo deletion on 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. The patient was admitted for outpatient neuropsychological assessment when she was 6.2 years old. Neurocognitive tests revealed an overall developmental delay of about 32 months and an intelligence score in the range of mild mental retardation. Her cognitive phenotype was characterized by a considerable visual-spatial deficit in the form of disorganized drawings or block designs indicating a profound lack of cohesion and overall global organization (decay of gestalt). The patient's behavioral phenotype was dominated by a distinct disinhibition syndrome demonstrating severe hyperactivity, utilization behavior, and aggressive behavior.

Child↗
PubMed2003

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.

The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix. In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay. Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. We review recent molecular advances in the recessive HRFC syndromes and discuss this hypothesis.

Animals↗
PubMed2004

Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe.

BACKGROUND: Thyroid hormones are crucial for normal growth and central nervous system development. In recent years, germline variants of the TSHbeta subunit gene have been identified as a cause of congenital TSH deficiency. METHODS: We performed a genetic and clinical study in children from four European countries diagnosed with congenital isolated central hypothyroidism. RESULTS: TSHbeta gene analysis revealed compound heterozygosity for 145C-->T (Q49X) and 313delT (C105Vfs114X) in 1 infant and homozygous mutation 313delT (C105Vfs114X) in 5 patients. Although all presented with typical symptoms of hypothyroidism, diagnosis and treatment was delayed until 3-5 months in 5 of 6 patients. In a longitudinal sibpair analysis, thyroxine substitution initiated immediately after birth was effective to prevent developmental delay and growth retardation. CONCLUSION: Clinical awareness is required to detect hypothyroidism due to TSHbeta mutations, which is not identified by TSH-based newborn screening. TSHbeta variants C105Vfs114X and Q49X are the most frequent cause of this severe disorder in Europe, now for the first time observed in compound heterozygous state.

Child↗
PubMedDate not supplied

The health of children adopted from Romania.

OBJECTIVE: To determine the medical condition of Romanian adoptees and the effects of the Romanian orphanage system on their health. DESIGN: Case series. SETTING: The international adoption clinics at the University of Minnesota, Minneapolis, and the New England Medical Center, Tufts University, Boston, Mass. PARTICIPANTS: Sixty-five Romanian adoptees who were brought to the United States during a 12-month period beginning in October 1990. MAIN OUTCOME MEASURES: Incidence of hepatitis B, intestinal parasites, tuberculosis, syphilis, human immunodeficiency virus type 1, growth failure, and developmental delay. RESULTS: Although the adopted children were presumably chosen from the most vital and attractive adoptees, only 15% were judged to be physically healthy and developmentally normal. Fifty-three percent had serological evidence of past or present hepatitis B infection, and 20% of screened children tested positive for hepatitis B surface antigen. In children aged 7 months or older, the overall prevalence of chronic hepatitis B was 23%. Intestinal parasites were found in 33% of subjects, and 45% of infected children had two or more pathogens identified. All the children tested for human immunodeficiency virus type 1 were negative. Two patterns of growth failure were observed that resembled the two subtypes of psychosocial short stature that occur in association with prolonged psychological harassment or emotional deprivation. Infants' length, weight, head circumference, and weight-for-height were adversely affected by institutionalization. Older children's height was reduced. Only 10% of children older than 12 months were developmentally normal. CONCLUSION: Romanian adoptees are an extraordinarily high-risk pediatric group as a consequences of decades of government-sanctioned child neglect and abuse.

Adoption↗
PubMed1983

Language development in a group of very low-birth-weight children whose postauricular myogenic response was tested in infancy.

A new instrument for the detection of the postauricular myogenic (PAM) response was used to test the hearing of 106 infants weighing less than or equal to 1,500 g when they were aged 1 to 21 months. Eighty-eight infants showed a positive response at 60 dB hearing level (HL) (normal). The other 18 did not respond; four were found to have sensory neural hearing loss and another six had conductive loss due to secretory otitis media. Of the 106 children, 90 aged 2 years or more (mean 27 months) were living in the United Kingdom, and their language development was assessed. It was normal in 67/75 children whose PAM response had been normal in infancy. The remaining eight children with normal PAM responses in infancy, had language delay. All eight children had problems that were thought to account for the delay, including three with mental retardation, three with cerebral palsy, and two whose families did not speak English. Language development was normal in 11/15 children tested whose PAM responses had been found to be abnormal, including all six whose secretory otitis media had been diagnosed and treated at the time of the PAM test. Delay in language development was found in 3/4 children with sensory neural hearing loss who were available for testing and in one child with overall developmental delay. It is concluded that a positive PAM response at 60 dB HL in infancy indicated hearing adequate for the development of normal speech in otherwise normal children among a group of infants at high risk of hearing loss.

Child, Preschool↗
PubMed2003

Neurodevelopment at 1 year of age in infants with congenital heart disease.

OBJECTIVE: To assess psychomotor development and neurological sequelae in infants after surgery for congenital heart defects. DESIGN AND SETTING: Single institution prospective cohort study. PATIENTS: 90 of 112 consecutive surviving infants of less than 1 year of age, without brain anomalies, conditions, or syndromes associated with delayed mental development, who underwent cardiac surgery during an 18 month period; 20 control infants with minor or no congenital heart defects. MAIN OUTCOME MEASURES: Griffiths developmental scales and standardised neurological examination at 1 year. RESULTS: Mean (SD) developmental quotient (DQ) in index infants was 99 (10.6), compared with 106.7 (6.6) in controls (p < 0.001). DQ was lower in infants after palliative surgery (n = 16; 88 (12.2)) than after corrective surgery (n = 74; 101.4 (8.6)) (p < 0.001). Of the 90 index infants, 24 (27%) had a DQ below 93.5 (more than 2 SD below the mean of controls). Developmental delay (DQ < 93.5) was more common after palliative surgery (10/16, 63%) than after corrective surgery (14/74, 19%) (p < 0.001). Of the 90 index infants, 29 (32%) had neurological abnormalities, compared with only one of the 20 controls (5%) (p = 0.013). Neurological abnormalities were more frequent after palliative surgery (11/16, 69%) than after corrective surgery (18/74, 24%) (p < 0.001). CONCLUSIONS: There is a considerable rate of neurodevelopmental impairment at 1 year of age in infants after cardiac surgery. Psychomotor impairment and neurological sequelae are apparently more severe in infants in whom only palliative surgery is possible.

Cohort Studies↗
PubMed1992

Communication effects of prenatal alcohol exposure.

This paper surveys the literature on prenatal alcohol exposure. The focus is on studies of speech, language, and communication skills evidenced by children diagnosed with fetal alcohol syndrome and fetal alcohol effects. Concomitant physical, behavioral, intellectual, and learning patterns are reviewed. Symptoms presented by alcohol-exposed children are compared to those seen in other developmentally delayed children. Future needs in areas of identification, assessment, and treatment are discussed.

Child↗
PubMed1997

Elective mutism--associated with developmental disorder/delay. Two case studies.

Elective mutism (EM) is not regarded as a separate diagnostic category in the ICD-9, but is included under the heading "313: Disturbance of emotions specific to childhood and adolescence." In the ICD-10 EM is acknowledged as a separate diagnosis defined as "a marked, emotionally determined lack of speech in certain situations in a child with a normal or near normal speech/language ability." The diagnosis excludes pervasive developmental disorder and specific developmental disorders of speech and language. Two patients referred for EM to a child and adolescent psychiatry outpatient clinic, showed specific developmental delays and assessment indicated slight mental retardation in one of them. The question arose regarding how extensively EM is reported in the literature as associated with developmental disorder/delay. A search was carried out in four data-bases where most references were listed under the keyword "mutism". This paper presents the two case studies, and the results of the literature inventory. It concludes that EM may be associated with developmental disorder/delay and suggests that this could be a predisposing factor for an emotionally determined lack of speech in certain situations.

Causality↗
PubMedDate not supplied

[Neuropsychiatric development of children with acquired immunodeficiency].

The Authors describe the neuropsychological evolution of 88 children (86 born from HIV infected mothers and, 2 infected by blood products) followed up at the Institute of Infectious Diseases of the University of Pavia. All patients had a clinical, serological and immunologic evaluation done by a pediatric infectivologist and a neurological assessment (Amyeli-Tison and Towen) done by a pediatric neurologist every three months. The Mental Development was examined using the Griffith scales. Electroencephalographic, TC scan, liquor test and other invasive tests were done only in symptomatic patients when indicated. The incidence of Central Nervous System involvement by HIV virus was 24% in infected patients and 37% in children with symptomatic HIV infection; neurological symptoms were observed in coincidence with worsening of AIDS disease. Fifty-five percent of the patients had a serious developmental delays. The Authors stress the importance of an early psychological care of these patients done by a specialist physician in order to reduce the onset of developmental problems in children facing a life expectancy longer than before due to the continuous improvement in the therapeutic management of AIDS.

Acquired Immunodeficiency Syndrome↗
PubMed2004

De novo complex chromosome rearrangement: a study of two patients.

Complex chromosome rearrangements (CCR) involving multiple breaks in two or more chromosomes are rare. We describe a girl with development delay and overgrowth who presents a nine-break apparently balanced de novo rearrangement involving chromosomes 1, 2, 3, 4 and 12, and a boy with developmental delay and seizures with a complex three-chromosome apparently balanced de novo rearrangement involving chromosomes 2, 7 and 13. The relationship between clinical abnormalities and apparently balanced rearrangements is discussed.

Adolescent↗
PubMed1983

Myelomeningocele newborn management: time for parental decision.

We retrospectively reviewed a process whereby parents were afforded additional time to decide the initial managements of their newborn with myelomeningocele. Of 110 newborn referrals, 52 (47%) had early surgery within the first 48 hours, 32 (29%) had delayed surgery between 3-7 days, 12 (11%) had late surgery from 7 days to 10 months, and 14 (13%) had no surgery, per parental request. There were no significant differences among the early, delayed or late surgery groups in mortality where 92%, 94% and 100% respectively were alive at 10 months, or the morbidity of worsening paralysis, ventriculitis or developmental delay. Our data suggest, therefore that there is no urgency or emergency for surgical intervention in the initial management of newborns with myelomeningocele. Rather, there is time to fully discuss issues with parents and obtain a better-informed consent for or against surgical management.

Decision Making↗