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PubMed2006

Obstetric and perinatal outcome and preliminary results of development of children born after in vitro maturation of oocytes.

BACKGROUND: Careful follow-up of children born after in vitro maturation (IVM) of human oocytes is essential because the technique is still very new. METHODS: Obstetric and perinatal data were collected from all deliveries after IVM treatment during 1999-2004. The growth and development of IVM children was assessed at 6, 12 and 24 months using Muenchener Funktionelle Entwicklungs Diagnostik and Bayley Scales of Infants. RESULTS: In total, 43 women [age 31.2 +/- 3.9 (mean +/- SD) years] gave birth to 40 singleton infants and three sets of twins (multiple rate 7.0%). Obstetric complications occurred in 15 pregnancies (35%). The mean birthweight of singleton infants was 3550 +/- 441 g and that of twins 2622 +/- 194 g. The rate of preterm birth infants was 5% in singletons. No perinatal deaths occurred. At the age of 12 months, eight children (19%) expressed minor developmental problems and one girl was found to have optical glioma. At 2 years of age, neuropsychological development was within the normal range. CONCLUSIONS: The obstetric and perinatal outcome was good, and the mean birthweight of the infants was normal. Minor developmental delay was overexpressed at 12 months, but the development of the children was normal at 2 years.

Adult↗
PubMed2002

Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria.

The prefrontal cortex of the brain has been shown to play a crucial role in working memory, and age-related changes in prefrontal function may contribute to the improvements in working memory that are observed during childhood. We examined the developmental trajectory of working memory in school-age children with early-treated phenylketonuria (PKU), a metabolic disorder that results in prefrontal dysfunction. Using a recognition procedure, we evaluated working memory for letters, abstract objects, and spatial locations in 20 children with PKU and 20 typically developing control children. Children in both groups ranged from 6 to 17 years of age. Our findings revealed poorer performance across all three types of materials for children with PKU. In addition, there was a significant difference in the developmental trajectory of working memory for children with PKU as compared with controls. Specifically, deficits were not apparent in younger children with PKU. Instead, deficits were observed only in older children, suggesting the presence of a developmental deficit rather than a developmental delay in the working memory of children with PKU.

Adolescent↗
PubMed1982

Interdisciplinary treatment of encopresis in individuals with developmental disorders: need and efficacy.

The specific target behavior of encopresis in individuals with mental retardation and developmental disorders (MR/DD) is not well-defined in the literature on encopresis or in the literature on specific interventions with MR/DD populations. The criteria for establishing a diagnosis of encopresis in individuals with MR/DD are not clear. The literature on encopresis was reviewed for two factors: (1) definitions according to three major definitional criteria of age, defecation patterns and etiology; and (2) the relationship between etiology and intervention in specific, MR/DD, and nonspecific populations. This review yielded no clinical description of encopresis in MR/DD children, no guidelines for differentiating encopresis from generalized developmental delay and no substantive treatment guidelines. Although no definitions or treatment formulations specific to MR/DD were identified, information and definitional guidelines derived from the general literature on encopresis are relevant to identification, definition and treatment issues for MR/DD populations. Interdisciplinary or team approaches are appropriate for individuals with multiple problems or developmental disorders and intractable encopresis. An interdisciplinary approach, neurodevelopmental-behavioral intervention, which was successfully employed with a 5-year-old encopretic child with multiple developmental problems, is described.

Age Factors↗
PubMed2005

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.

Abnormalities, Multiple↗
PubMed1997

Partial trisomy of 15q due to inserted inverted duplication.

A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 --> 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.

Adolescent↗
PubMed1999

Expanding the phenotype of Filippi syndrome: a report of three cases.

This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiological findings are described to further delineate and expand the clinical spectrum of the condition.

Abnormalities, Multiple↗
PubMed1994

The 'TRAP' sequence--life threatening consequences to the pump twin.

The acardius foetal malformation is a rare abnormality occurring in monozygotic multiple pregnancies. This is a case report of a pair of twins with the "twin reversed arterial perfusion (TRAP)" sequence and its complications. The recipient twin was born acardius acephalus. The pump twin had problems of prematurity, disseminated intravascular coagulation, sclerema and right ventricular hypertrophy. On follow-up at seven months he has failure to thrive, spastic quadriplegia and developmental delay. An awareness of the TRAP sequence may lead to better antenatal diagnosis and optimal management of the twin pregnancy.

Abnormalities, Multiple↗
PubMed2006

Developmental toxicity of prenatal exposure to toluene.

Organic solvents have become ubiquitous in our environment and are essential for industry. Many women of reproductive age are increasingly exposed to solvents such as toluene in occupational settings (ie, long-term, low-concentration exposures) or through inhalant abuse (eg, episodic, binge exposures to high concentrations). The risk for teratogenic outcome is much less with low to moderate occupational solvent exposure compared with the greater potential for adverse pregnancy outcomes, developmental delays, and neurobehavioral problems in children born to women exposed to high concentrations of abused organic solvents such as toluene, 1,1,1-trichloroethane, xylenes, and nitrous oxide. Yet the teratogenic effects of abuse patterns of exposure to toluene and other inhalants remain understudied. We briefly review how animal models can aid substantially in clarifying the developmental risk of exposure to solvents for adverse biobehavioral outcomes following abuse patterns of use and in the absence of associated health problems and co-drug abuse (eg, alcohol). Our studies also begin to establish the importance of dose (concentration) and critical perinatal periods of exposure to specific outcomes. The present results with our clinically relevant animal model of repeated, brief, high-concentration binge prenatal toluene exposure demonstrate the dose-dependent effect of toluene on prenatal development, early postnatal maturation, spontaneous exploration, and amphetamine-induced locomotor activity. The results imply that abuse patterns of toluene exposure may be more deleterious than typical occupational exposure on fetal development and suggest that animal models are effective in studying the mechanisms and risk factors of organic solvent teratogenicity.

Animals↗
PubMed1999

Retinoic acid acts during peri-implantational development to alter axial and brain formation.

All-trans retinoid acid (RA) induces a stereotypic spectrum of stage-specific malformations in vertebrate conceptuses. The present work evaluated the anatomic and biochemical effects of exposure to RA in mouse embryos at a peri-implantational stage of development - gestational day (GD) 5. The RA receptors (RARs) beta and gamma, the retinoid X receptors (RXRs) alpha and beta, and the cellular retinoid acid binding proteins (CRABPs) I and II were detected by RT-PCR in both control and treated individual GD 5 decidua/embryo complexes 3 h after RA injection, indicating the presence of the mRNAs coding for the proteins that mediate the effects of RA. In contrast, the RAR alpha mRNA was detected in some but not all decidua/embryo complexes, both control and treated, suggesting that its expression is initiated at approximately GD 5, while RXR gamma mRNA was not detected. Examination of the control and RA-exposed embryos on GD 10, 12, or 17 showed that greater than 50% of the RA-exposed embryos were adversely affected, many with defects found only after serial histopathological examination. The malformations were localized primarily in the central nervous system, the branchial arches, and their derivatives. These terata included excessive folding and elevation of the neural tube floor plate, exencephaly (with detachment of the cephalic neuroepithelium and rarefied cephalic mesenchyme), persistent patency of Rathke's pouch, small trigeminal ganglia, neural diverticula (chiefly from the spinal cord), and/or various optic and otic defects. Unexpectedly, limb reduplications were not apparent in RA-exposed fetuses. Those litters examined on GD 17 had a high percentage of resorbed or malformed implantations, and the few apparently normal fetuses were developmentally delayed with respect to bone ossification. These data confirm that the development of neural- and neural crest-derived structures are severely disrupted by RA exposure prior to initial specification of the neural plate and suggest that many of the proteins that regulate RA signaling are available in early vertebrate embryos at this developmental stage.

Abnormalities, Drug-Induced↗
PubMed2000

Visual outcome and complications of bilateral intraocular lens implantation in children.

PURPOSE: To determine the safety and efficacy of bilateral intraocular lens (IOL) implantation in children. SETTING: Tertiary referral pediatric ophthalmology department. METHODS: This retrospective study comprised 13 children (26 eyes) who had bilateral cataract surgery with IOL implantation. Patients were divided into 2 groups: congenital cases, diagnosed during the first year of life, and developmental cases, diagnosed after 1 year of age. All patients had small incision phacoemulsification with primary implantation of a poly(methyl methacrylate) or a foldable acrylic IOL. Primary posterior capsulotomy was performed in 16 eyes (61.5%). RESULTS: Age at surgery ranged from 1 week to just under 8 years. Seven patients (53.8%) had a systemic diagnosis: Down's syndrome (n = 4); developmental delay or cerebral atrophy (n = 3). Five children with systemic problems could not cooperate with formal vision testing; 2 could fix and follow bilaterally, and 3 had central, steady, and maintained vision bilaterally. In the congenital group, 37.5% of eyes attained a visual acuity of 20/20 and 87.5%, 20/120 or better. In the developmental group, formal vision testing was possible in 4 children. Five eyes (83.3%) attained a visual acuity of 20/40 or better. Thirteen eyes (50.0%) required posterior capsulotomy. Primary posterior capsulotomy reduced the incidence of posterior capsule opacification (PCO), but there was no correlation between PCO and IOL material. One patient developed glaucoma bilaterally. CONCLUSION: Bilateral IOL implantation was safe and produced good visual results in children of all ages with bilateral cataract.

Acrylic Resins↗
PubMed2002

[Mental retardation and environment: contribution of growth curves to etiological diagnosis].

Although deprived environment is known for more than 50 years to be one of the etiology of mental retardation in infancy, this remains unrecognized by many paediatricians and family practitioners. Yet if appropriate therapeutic measures are instituted early enough, future development of the child is good. A study of the growth curves in relation with the environmental changes, can help to diagnose environmental mental retardation. As an illustration, we present the cases of 5 children first addressed for developmental delay, and secondly removed from their usual environment for psychosocial reasons. Mean duration of follow-up was 10 years, including at least 5 years after the removal. All 5 children had non-organic failure to thrive which was displayed only on the retrospective study of their records. Four recovered from their developmental retardation.

Adolescent↗
PubMed2005

Intrauterine penetrating direct fetal head trauma following gunshot injury: a case report and review of the literature.

CASE REPORT: An unusual case of an intrauterine penetrating head injury due to a pellet from an airgun is described. A 28-year-old pregnant woman, at term, shot herself intravaginally with a toy BB gun. Following a spontaneous precipitous vaginal delivery, the neonate presented with persistent seizure disorder, meningitis, cerebritis, and a right parietal region scalp swelling. Imaging studies revealed intracranial hemorrhage, and the metallic pellet was adjacent to the right lateral ventricle, which was removed through a parietal craniotomy. Computed tomography of the brain after 1 week demonstrated early abscess formation in the left frontal operculum and a subdural empyema in the posterior fossa. The abscesses were evacuated, and the meningitis was treated vigorously with broad-spectrum antibiotics. Although well for the past 6 years, the child demonstrates significant mental handicap and developmental delay. DISCUSSION: The pathogenesis, management, and medicolegal issues pertaining to the above case are discussed, and the relevant literature is briefly reviewed.

Adult↗
PubMed2005

Maternal alcohol consumption during pregnancy may delay the development of spontaneous fetal startle behaviour.

Maternal alcohol consumption during pregnancy may delay the development of spontaneous fetal startle behaviour. Previous study indicated that fetuses exposed to alcohol exhibited a significantly higher incidence of spontaneous startles compared to fetuses not exposed at 20 weeks gestation. This study examined startle behaviour longitudinally from 20 to 35 weeks gestation to determine whether the previous results were due to 'developmental delay' or a 'permanent effect'. The number of spontaneous startles exhibited by fetuses of mothers who drank during pregnancy and fetuses whose mothers did not drink was recorded at 20, 25, 30 and 35 weeks gestation during a 45-min observation. The results indicate that exposure to alcohol during pregnancy significantly increases the exhibition of spontaneous startles by the fetus but across gestation there is significant catch-up in startle behaviour. The results suggest exposure to alcohol delays the natural maturation of spontaneous startle behaviour of the fetus but also has a smaller 'permanent' effect. It is suggested that these effects are mediated by alcohol exerting an effect on the inhibitory pathways controlling startle behaviour.

Adult↗
PubMed2004

Differences in expression pattern and function between zebrafish hoxc13 orthologs: recruitment of Hoxc13b into an early embryonic role.

Vertebrate Hox genes are generally believed to initiate expression at the primitive streak or early neural plate stages. The timing and spatial restrictions of the Hox expression patterns during these stages correlate well with their demonstrated role in axial patterning. Here we demonstrate that one zebrafish hoxc13 ortholog, hoxc13a, has an expression pattern in the developing tail bud that is consistent with the gene playing a role in axial patterning. However, the second hoxc13 ortholog, hoxc13b, is maternally expressed and is detectable in every cell of early cleavage embryos through gastrulae. In addition, both transcript and protein are detectable at these stages. At 19 h post fertilization (hpf), hoxc13b expression is up-regulated in the tail bud, becoming restricted to the tail bud by 24 hpf. Importantly, by 24 hpf, hoxc13b morphants show a specific developmental delay, which can be rescued by co-injecting synthetic capped hoxc13a or hoxc13b message. These data suggest some functional divergence due to altered expression patterns of the two hoxc13 orthologs after duplication. Further characterization of the hoxc13b morphant delay reveals that it is biphasic in nature, with the first phase of the delay occurring before gastrulation, suggesting a new role for vertebrate Hox genes before their conserved role in axial patterning. The extent of the delay does not change through 20 hpf; however, an additional delay emerges at this time. Notably, this second phase of the delay correlates with hoxc13b expression pattern becoming restricted to the tail bud.

Amino Acid Sequence↗
PubMed2004

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months-20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of <1%, or variants of the Michaelis-Menten constant which were not detected by newborn screening. Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy (n=2). In addition, symptomatic children had a higher risk of delayed motor and speech development. No child with PBD detected by newborn screening (n=25) had auditory or visual loss; and milestones of speech development and motor skills were reached at an appropriate age. There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children. Symptomatic children often have developmental delay and are at risk of irreversible damage to auditory, visual, or central nervous functions; whereas children with PBD (established presymptomatically following newborn screening) treated with biotin supplementation, do not experience these effects.

Adaptation, Psychological↗
PubMed2003

Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly.

A 6 year-old female showed growth hormone deficiency, situs inversus totalis, short stature, blue sclerae, facial dismorphism, brachydactyly, developmental delay and hypertrichosis. The described phenotype represents a new syndromic situs inversus with a characteristic phenotype. Here, we present the first patient with this association in the literature.

Abnormalities, Multiple↗
PubMed2005

Profile of West syndrome in North Indian children.

To study the profile of West syndrome (WS) in North Indian Children, 165 cases of WS were analyzed. Details of seizure semiology, prenatal and perinatal events, developmental milestones, treatment received, physical and neurological examination and investigations were recorded. The response of seizures to various therapeutic modalities and the final developmental status were taken as primary outcome variables. Analysis was done to find the factors influencing these outcome variables. The age of onset of infantile spasms ranged from 1 to 19 (mean 6.1 +/- 3.4) months. Age at presentation ranged from 1.5 months to 4.5 years (mean 14.7 +/- 11.4 months); 74% had flexor spasms. Other types of seizures were associated in 31 children. Antenatal problems and adverse perinatal events were reported in 26.7 and 59.4%, respectively. Developmental delay was recognized in 69.7% prior to and in 27.9% after onset of spasms. Microcephaly was seen in 72.7%. Interictal EEG showed hypsarrhythmia in 44; generalized spike and slow waves in 31% and burst suppression in 7%. Computed tomography scan done in 94 cases showed cerebral atrophy in 15%, infarcts in 8%, tubers in 7%, developmental malformations in 5%. Magnetic resonance imaging done in 77 cases showed periventricular T2WI white matter hyper intensities in 33.8% and cerebral atrophy in 21%. Prednisolone and ACTH were used in 57 and 35 cases, respectively. Complete control of seizures was seen in 49 and 46% cases. No significant difference in seizure control or developmental outcome was found in the two groups. Overall, 42.4, 30.9 and 16% children showed complete, partial and no control of seizures. After therapy, developmental improvement was seen in 55.8% and no change in 23.6% cases. The type of spasms had no correlation with the other parameters including etiology, seizure or developmental outcome. An early age of onset correlated with presence of antenatal problems (P < 0.05). Seizure control and developmental improvement correlated significantly (P < 0.005). Developmental outcome was better in cryptogenic as compared to symptomatic cases (P < 0.05). No other significant correlations were found. In India WS is often diagnosed late because of lack of awareness. Adverse perinatal events are important etiological factors. Non-affordability of ACTH and Vigabatrin prompts the use of prednisolone in most cases.

Age of Onset↗
PubMed2005

Observational study of suspected maltreatment in Italian paediatric emergency departments.

AIMS: To evaluate how often children seen in paediatric accident & emergency (A&E) departments were suspected of abuse or neglect, and to explore some of the correlates of suspected child maltreatment. METHODS: Multicentre, cross-sectional study of 15 randomised census days during a six month period. Trained research assistants working with local paediatric staff completed a purpose made anonymised checklist covering sociodemographic and medical information. A six point suspicion index was used to rate compatibility with child maltreatment based on the occurrence of observable harm. Statistical analysis was carried out on the basis that a score of 4 or more was suspicious of child maltreatment. Nineteen hospitals provided standardised paediatric A&E consultation data on 0-14 year olds presenting between 10 am and 10 pm. RESULTS: Of 10 175 assessed children, 204 aroused suspicion of child maltreatment (95% CI 163 to 214 per 10,000). In a logistic regression model of suspected maltreatment statistically significant associations were found with socioeconomic disadvantage, children living in single parent families, and developmental delay. There was no correlation with pre-school age, male gender, foreign origin, or living in urban areas. CONCLUSIONS: Child maltreatment based on immediate scoring of suspicion, focused on observable harm, occurred in 2% of a representative sample of paediatric emergency consultations in Italy. This was more common if there were associated social and developmental vulnerabilities. True prevalence of child maltreatment in emergency departments remains elusive because of changing definitions and forensic validation problems.

Adolescent↗