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PubMedDate not supplied

The diagnostic yield of the nerve-muscle skin biopsy in paediatric neurology practice. The Montreal Children's Hospital Neuromuscular Group.

OBJECTIVE: To determine the diagnostic yield of the nerve-muscle-skin (NMS) biopsy in paediatric neurology practice. STUDY DESIGN: A consecutive series of 98 paediatric NMS biopsies done 1989-1994 retrospectively reviewed in the context of pre-biopsy clinical and laboratory parameters. Bivariate associations based on chi-square test. Unconfounded associations between pre-biopsy variables and positive diagnostic yield (PDY) assessed by multiple logistic regression. RESULTS: Fifty seven out of 98 patients central (global delay, seizures, abnormal CNS imaging) process; 41/98 patients peripheral (motor delay, weakness) process, electromyography-nerve conduction studies (EMG-NCS) 87/98 cases; abnormal 43/87. Positive diagnostic yield (PDY) in 42/98 (43%) biopsies. Statistically significant bivariate associations between PDY and pre-biopsy; age, presenting symptom, developmental delay, weakness, reflexes, CPK, lactate, EMG-NCS and process. Unconfounded associations demonstrated with PDY and age, reflexes and process. The presence of a peripheral process or an abnormal EMG-NCS strongly predictive of PDY: 34/41 (83%) peripheral process cases had PDY, 32/40 (80%) abnormal EMG-NCS cases had PDY, and 29/31 (93.5%) peripheral process and abnormal EMG-NCS cases had PDY. Abnormal EMG-NCS with central process improved PDY to 3/9 (33%) from 4/37 (11%) for normal EMG-NCS. CONCLUSION: NMS biopsy is a valuable diagnostic tool, particularly in the context of a suspected peripheral process or a central processes with an abnormal EMG-NCS.

Biopsy↗

PubMed2003

Proteomic studies of diauxic lag in the differentiating prokaryote Streptomyces coelicolor reveal a regulatory network of stress-induced proteins and central metabolic enzymes.

Bacteria typically undergo intermittent periods of starvation and adaptation, emulated as diauxic growth in the laboratory. In association with growth arrest elicited by metabolic stress, the differentiating eubacterium Streptomyces coelicolor not only adapts its primary metabolism, but can also activate developmental programmes leading to morphogenesis and antibiotic biosynthesis. Here, we report combined proteomic and metabolomic data of S. coelicolor used to analyse global changes in gene expression during diauxic growth in a defined liquid medium. Cultures initially grew on glutamate, providing the nitrogen source and feeding carbon (as 2-oxoglutarate) into the TCA cycle, followed by a diauxic delay allowing reorientation of metabolism and a second round of growth supported by NH4+, formed during prediauxic phase, and maltose, a glycolytic substrate. Cultures finally entered stationary phase as a result of nitrogen starvation. These four physiological states had previously been defined statistically by their distinct patterns of protein synthesis and heat shock responses. Together, these data demonstrated that the rates of synthesis of heat shock proteins are determined not only by temperature increase but also by the patterns and rates of metabolic flux in certain pathways. Synthesis profiles for metabolic- and stress-induced proteins can now be interpreted by the identification of 204 spots (SWICZ database presented at http://proteom.biomed.cas.cz). Cluster analysis showed that the activity of central metabolic enzymes involved in glycolysis, the TCA cycle, starvation or proteolysis each displayed identifiable patterns of synthesis that logically underlie the metabolic state of the culture. Diauxic lag was accompanied by a structured regulatory programme involving the sequential activation of heat-, salt-, cold- and bacteriostatic antibiotic (pristinamycin I, PI)-induced stimulons. Although stress stimulons presumably provide protection during environmental- or starvation-induced stress, their identities did not reveal any coherent adaptive or developmental functions. These studies revealed interactive regulation of metabolic and stress response systems including some proteins known to support developmental programmes in S. coelicolor.

Adaptation, Physiological↗

PubMed2025

A novel regulation on the developmental checkpoint protein Sda that controls sporulation and biofilm formation in Bacillus subtilis.

UNLABELLED: Biofilm formation by Bacillus subtilis is triggered by an unusually simple environmental sensing mechanism. Certain serine codons, the four TCN codons (N for A, T, C, or G), in the gene for the biofilm repressor SinR caused lowered SinR translation and subsequent biofilm induction during transition from exponential to stationary growth. Global ribosome profiling showed that ribosomes pause when translating the four UCN (U for T on the mRNA) serine codons on mRNA, but not the two AGC/AGU serine codons. We proposed a serine codon hierarchy (AGC/AGT vs TCN) in that genes enriched in the TCN serine codons may experience reduced translation efficiency when serine is limited. In this study, we designed an algorithm to score all protein-coding genes in B. subtilis NCIB3610 based on the serine codon hierarchy. We generated a short list of 50 genes that could be subject to regulation by this novel mechanism. We further investigated one such gene from the list, sda, which encodes a developmental checkpoint protein regulating both sporulation and biofilm formation. We showed that synonymously switching the TCN serine codons to AGC in sda led to delayed biofilm formation and sporulation. This engineered strain also outgrew strains with other synonymously substituted sda alleles (TCN) in competition assays for biofilm formation and sporulation. Finally, we showed that the AGC serine codon substitutions in sda elevated the Sda protein levels. This serine codon hierarchy-based novel signaling mechanism could be exploited by bacteria in adapting to stationary phase and regulating important biological processes. IMPORTANCE: Genome-wide ribosome profiling in Bacillus subtilis shows that under serine limitation, ribosomes pause on the four TCN (N for A, C, G, and T), but not AGC/AGT serine codons, during translation at a global scale. This serine codon hierarchy (AGC/T vs TCN) differentially influences the translation efficiency of genes enriched in certain serine codons. In this study, we designed an algorithm to score all 4,000+ genes in the B. subtilis genome and generated a list of 50 genes that could be subject to this novel serine codon hierarchy-mediated regulation. We further investigated one such gene, sda, encoding a developmental checkpoint protein. We show that sda and cell developments controlled by Sda are also regulated by this novel mechanism.

Bacillus subtilis↗

PubMed2005

AUXIN RESPONSE FACTOR 2 (ARF2): a pleiotropic developmental regulator.

AUXIN RESPONSE FACTORS (ARFs) regulate auxin-mediated transcriptional activation/repression. They are encoded by a gene family in Arabidopsis, and each member is thought to play a central role in various auxin-mediated developmental processes. We have characterized three arf2 mutant alleles, arf2-6, arf2-7 and arf2-8. The mutants exhibit pleiotropic developmental phenotypes, including large, dark green rosette leaves, delayed flowering, thick and long inflorescence, abnormal flower morphology and sterility in early formed flowers, large organ size and delayed senescence and abscission, compared with wild-type plants. In addition, arf2 mutant seedlings have elongated hypocotyls with enlarged cotyledons under various light conditions. The transcription of ACS2, ACS6 and ACS8 genes is impaired in the developing siliques of arf2-6. The phenotypes of all three alleles are similar to those of the loss-of-function mutants obtained by RNA interference or co-suppression. There is no significant effect of the mutation on global auxin-regulated gene expression in young seedlings, suggesting that ARF2 does not participate in auxin signaling at that particular developmental stage of the plant life cycle. Because ARF2 is thought to function as a transcriptional repressor, the prospect arises that its pleiotropic effects may be mediated by negatively modulating the transcription of downstream genes in signaling pathways that are involved in cell growth and senescence.

Arabidopsis↗

PubMed2002

Cockayne syndrome in three sisters with varying clinical presentation.

We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone X-rays, auditory and ophthalmological evaluation confirmed the clinical impression of Cockayne syndrome. Two of her 13 sibs, both sisters, were later found to have the same syndrome. The sisters varied in clinical severity, as two of them had cataracts and early global delay and died early of inanition and infection. The third showed the disease manifestations at a relatively later age, did not have cataract, exhibited milder manifestations of the disease, and remains alive. The parents are not related by any way and the father is married to two other wives with 11 unaffected children. This report documents variable degrees of manifestations in sibs who presumably have the same gene mutation.

Cataract↗

PubMed1995

Early interactions between drug-involved mothers and infants. Within-group differences.

OBJECTIVE: To explore differences in maternal characteristics, mother-infant interaction, and infant development within a group of women who used cocaine, alcohol, and tobacco during pregnancy and their infants. DESIGN: Prospective survey. SETTING: Countywide, voluntary, home-based clinical intervention program. PARTICIPANTS: Thirty-two mother-infant pairs identified through a risk-assessment screen who participated in the program for 1 year. VARIABLES: Maternal characteristics, neonatal characteristics, interactional measures (Nursing Child Assessment Feeding Scale and Home Observation for Measurement of the Environment scale), and developmental assessment (Bayley Scales of Infant Development at 1 year). RESULTS: The majority of women were black, single, and unemployed. Fifteen (47%) of the infants were born prematurely; four (13%) were small for gestational age. Mean Bayley Scales of Infant Development scores were as follows: the mental development index was 99.8, and the psychomotor development index was 102.4. Older mothers (r = .41, P = .04), mothers of higher parity (r = .42, P = .02), and mothers who were more actively involved in the program (r = .41, P = .04) had higher scores on the Nursing Child Assessment Satellite Training Feeding Scale. Mothers who were better educated (r = .49, P = .009) and mothers who were more active in the program (r = .44, P = .02) had higher scores on the Home Observation for Measurement of the Environment scale. Several of the subscales of the Home Observation for Measurement of the Environment scale were significantly associated with scores on the Bayley Scales of Infant Development. CONCLUSIONS: For this group of substance-exposed infants whose mothers were receiving support services, developmental skills at 1 year were age appropriate. Despite drug abuse and poverty, there was some variability in the ability of mothers to provide a developmentally supportive environment for their infants. Those who were better organized to support infant development had infants who performed better on global developmental assessments.

Child Development↗

PubMed2005

Dysregulation of pretend play and communication development in children with autism.

We hypothesized that the difficulties of the child with autism originate from disorders of organization and regulation of actions according to environmental changes. Autism impoverishes general mental representation skills, which are the basis of symbolic play and the development of communication. Twenty-one children with autism were compared with 14 children with global intellectual impairment and 15 matched typically developing children, on both regulation of play activities and communication development. Regulation of play was very disordered in children with autism, with breaking off, dissociation and instability of actions. However, in directed play their actions were more structured and corresponded to a better developmental level. In addition, dysregulation was associated with delayed, heterogeneous development of communication skills. The results of this study are in line with our hypotheses and emphasize the role of symbolic play in differential diagnosis and the value of therapies based on regulation processes and symbolic play.

Autistic Disorder↗

PubMed1996

Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.

Between 1985 and 1995 eighteen babies, presenting to our department with absent visual contact and roving eye movements, showed a non-recordable flash electroretinogram (fERG). This was confirmed when repeated after a one-year interval. In four patients with developmental delay an underlying systemic disorder was diagnosed after a thorough pediatric neurological evaluation: Senior Loken syndrome, neuroaxonal dystrophy, ceroid lipofuscinosis and a yet unclear metabolic disorder were the revised diagnoses. The fourteen remaining patients were diagnosed as having primary idiopathic Leber Congenital Amaurosis (LCA). Three of them showed developmental delay. In all three cerebellar abnormalities were visualized on brain computed tomography (CT) and/or magnetic resonance imaging (MRI). Brain CT of the other eleven patients with age appropriate development was normal. We conclude that LCA is a diagnosis of exclusion and a cautious approach with a thorough history and pediatric neurological examination is necessary to exclude a more global pediatric neurological disorder.

Belgium↗

PubMed2001

Global estimation of myelination in the developing brain on the basis of magnetization transfer imaging: a preliminary study.

BACKGROUND AND PURPOSE: In the developing brain, myelination occurs in an orderly and predetermined sequence. The aim of this study was to determine whether such changes can be tracked using volumetric magnetization transfer imaging. METHODS: Three-dimensional magnetization transfer imaging was performed in 50 children (age range, 0.6-190 months) with no evidence of developmental delay or structural abnormalities. Volumetric magnetization transfer ratio (MTR) parameters generated of the whole brain were mean MTR and height and location of the MTR histogram peak. Relationships between volumetric MTR parameters and age were assessed using nonlinear regression analysis. RESULTS: With age, all volumetric MTR parameters changed exponentially in a way that was best expressed by the function y = a + b.exp(-x/c) (P < .0001). The peak height of the MTR histogram was the parameter that changed most predictably and that continued to change for the longest period of time. CONCLUSION: With this preliminary study, we show that by using volumetric MTR analysis, it is possible to monitor changes in the developing brain, presumably the myelination progress. This method has a potential role for detecting myelination disorders in the pediatric population, for studying the natural history of these diseases, and for monitoring the effects of treatment.

Adolescent↗

PubMed1983

The assessment of 'vision for development' in severely visually handicapped babies.

Vision makes a substantial contribution to the pattern and rate of normal development. Considering infant development in 3 phases, global, integrative and specific the most important attributes to vision of development within each phase are discussed. A method for assessment of the aspects of vision most relevant to each child's current developmental needs is described and a philosophy outlined whereby the findings can be represented as a balanced practical prescription for development. The development of the visual system is often delayed in visually handicapped babies; some reasons are put forward and a concern that many may never achieve their potential maximum visual competence is expressed. A method for evaluating the current stage of visual development in a visually handicapped baby is described in which the findings form the starting point of a programme towards achieving maximum visual competence as young as possible.

Child↗

PubMed1998

Prenatal methylmercury exposure and children: neurologic, developmental, and behavioral research.

Mercury is present in the earth's crust and is methylated by bacteria in aquatic environments to methylmercury (MeHg). It is then concentrated by the food chain so predatory fish and sea mammals have the highest levels. Thus, consuming seafood leads to exposure. MeHg readily crosses the placenta and the blood-brain barrier and is neurotoxic. The developing fetal nervous system is especially sensitive to its effects. Prenatal poisoning with high dose MeHg causes mental retardation and cerebral palsy. Lower level exposures from maternal consumption of a fish diet have not been consistently associated with adverse neurodevelopmental outcomes. However, most studies have considerable uncertainty associated with their results. Two large controlled longitudinal studies of populations consuming seafood are underway that are likely to determine if any adverse effects can be identified. No adverse associations have been found in the Seychelles, where exposure is mainly from fish consumption. In the Faroe Islands where exposure is primarily from consumption of whale meat and not fish, adverse associations have been reported. The Seychelles population consumes large amounts of marine fish containing MeHg concentrations similar to commercial fish in the United States. Current evidence does not support the hypothesis that consumption of such fish during pregnancy places the fetus at increased neurodevelopmental risk.

Child↗

PubMed2026

Maternal high-fat diet modulates lupus nephritis through fetal Wnt-steroid hormone and epigenetic reprogramming in MRL/lpr mouse offspring.

We previously investigated whether maternal high-fat diet (HFD) exposure alters lupus nephritis (LN) progression in MRL/lpr offspring. Contrary to expectation, maternally HFD-exposed offspring showed delayed and attenuated nephritic progression compared with control diet offspring. The maternal HFD developmental impact on LN remains unclear. Here, integrated amniotic fluid metabolomics and fetal liver transcriptomics revealed that maternal HFD reshaped the intrauterine molecular environment, particularly involving steroid hormone biosynthesis and Wnt/β-catenin-associated regulatory networks. Methylome profiling further demonstrated broad CpG hypomethylation, immune-related differentially methylated region enrichment, and an inverse association between global CpG methylation and oxidative genomic DNA damage. Among candidate regulatory nodes, Axin2, a canonical Wnt/β-catenin target and feedback regulator, emerged as a potential link between fetal nutritional exposure, epigenetic remodeling, and persistent pathway modulation. Although whole-locus and gene body methylation of Axin2 were not markedly altered, promoter-region methylation showed an increasing tendency under maternal HFD exposure. In adult offspring, maternal HFD was associated with reduced Axin2 protein expression, decreased Wnt-responsive transcripts, increased peripheral corticosterone levels, and attenuation of LN progression. The inverse association between Axin2 expression and corticosterone further suggested coupling between suppressed Wnt pathway output and steroid hormone remodeling. Together, these findings support a developmental model in which maternal HFD reshapes the fetal intrauterine environment and establishes a persistent Wnt-steroid hormone-epigenetic regulatory axis that unexpectedly attenuates LN progression in genetically susceptible offspring.

Axin2↗

PubMedDate not supplied

Home-based developmental screening of children in foster care.

Children in foster care have a high prevalence of developmental delay. A program for developmental screening was designed to address the increased risk of developmental delay among children in foster care. Fifty-two children birth to 18 months were evaluated using the Denver Developmental Screening Test-II (DDST-II), Early Language Milestone Scale-2 (ELM-2), and the HOME Scale. Forty-nine children were screened with the Infant Neurological International Battery. Thirty five percent of the children failed DDST-II screening. Language assessment with the ELM-2 resulted in a mean global ELM-2 standard score of 89. Sixty-one percent of children had abnormal neurologic INFANIB screening exams. HOME scores reflected foster care environments that provided adequate developmental and emotional stimulation for the children. Implications for future interventions should move from developmental screening to comprehensive developmental testing and expansion of foster parent education regarding the growth and development of the foster children in their care.

Community Health Nursing↗

PubMed1998

Nonhuman primate model of the effect of prenatal cocaine exposure on cerebral cortical development.

To investigate the effects of prenatal cocaine exposure on the corticogenesis in primates we developed a monkey model in which pregnant animals received 10 mg/kg cocaine orally twice a day from the 40th to the 102nd day of pregnancy. The animals gave birth at term, and brains of the 2-month and 1.5-year-old infants were examined. Examination revealed the structural abnormalities throughout the cerebral cortex that would be expected from modulation of the nonselectively diffusing circulation-derived monoamines. They include: (1) reduction in the number of cortical cells, which most likely reflects abnormal cell proliferation; (2) inappropriate positioning of cortical neurons, which resulted from alterations in migration of cortical cells; and (3) altered glial morphology. The structural alterations were accompanied by abnormalities in animal temperament reminiscent of those seen in human infants of drug-abusing mothers. As predicted by the morphologic studies, we found that cocaine treatment produced significant changes in the levels of monoamines and their receptors in all laminae of the frontal, parietal, temporal, and occipital regions of the fetal cerebral wall. This indicates that cocaine abuse by pregnant human mothers may affect the global levels of monoamines in the fetal brain and, in doing so, interfere with a broad range of developmental events regulated by these chemicals.

Aging↗

PubMed2006

Delayed detection of tonal targets in background noise in dyslexia.

Individuals with developmental dyslexia are often impaired in their ability to process certain linguistic and even basic non-linguistic auditory signals. Recent investigations report conflicting findings regarding impaired low-level binaural detection mechanisms associated with dyslexia. Binaural impairment has been hypothesized to stem from a general low-level processing disorder for temporally fine sensory stimuli. Here we use a new behavioral paradigm to address this issue. We compared the response times of dyslexic listeners and their matched controls in a tone-in-noise detection task. The tonal signals were either Huggins Pitch (HP), a stimulus requiring binaural processing to elicit a pitch percept, or a pure tone-perceptually similar but physically very different signals. The results showed no difference between the two groups specific to the processing of HP and thus no evidence for a binaural impairment in dyslexia. However, dyslexic subjects exhibited a general difficulty in extracting tonal objects from background noise, manifested by a globally delayed detection speed.

Acoustic Stimulation↗

PubMed2002

Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome.

Neuroimaging studies have shown selective changes in brain size in Fragile X syndrome (FraX), which include reductions in the posterior cerebellar vermis, age-dependent increases in hippocampal volume, and enlarged caudate nucleus and thalamus. Contrasting with these limbic and subcortical anomalies, much less is known about the neocortex in FraX. The present study attempted to examine cerebral and lobar-level volumetric changes in young males with FraX (2-7 years), by comparing groups of subjects with full mutation (FM) and mosaicism (Mos) with both age-matched controls and subjects with developmental language delay (DLD) and Down syndrome (DS). For this purpose, we used high resolution (i.e, SPGR) MRI scans and semi-automated methods for segmenting (tissue class) and parcellating (i.e., Talairach) the brain. In agreement with previous studies, we found no changes in overall brain or cerebrum size in FraX. Nevertheless, boys with FM FraX had relative reductions in temporal lobe volume (primarily gray matter) and relative preservation/enlargement of parietal white matter volume. While temporal lobe reductions were not specific, since they were also observed in DLD and DS subjects, parietal preservation/enlargement was only seen in FraX. The relevance of these preliminary findings was emphasized by comparisons between FraX groups, which revealed more marked changes in FM FraX than in Mos FraX (i.e., gene dosage). While cross-sectional analyses revealed marked age-dependent decreases in DS, a group showing marked global and lobar volumetric reductions, there were no changes over time in FraX. These neuroimaging data are discussed in the context of FraX neurobiology and other developmental disorders.

Brain↗

PubMedDate not supplied

[Measurement of activities of daily living in children--standardisation of a screening questionnaire].

BACKGROUND: Especially at preschool age, but also at school age, it is a major issue to what extent developmental problems are relevant for activities of daily living. This should be important for the prescription of therapeutic interventions. Previous instruments require training and/or they are time-consuming (e. g. interviews, direct observation and testing) or they are not suitable for the target group. The objective of the presented screening questionnaire for parents and professionals is a quick and standardised instrument for the status of everyday activities, particular in children with physical and mental delays or handicaps. The study examines the interrater and the retest reliability. PATIENTS AND METHODS: A questionnaire (M-ADL) with the subscales eating and drinking, hand skill in everyday life, toiletting and mobility was tested. The ratings were carried out on two levels: first, a global rating from 0 to 10 had to be given on each subscale. Secondly, a rating based on a defined scale had to be given. The average time for evaluation is about 5 minutes. We examined 28 children with cerebral palsy for the test-retest-reliability, and 48 children for the interrater reliability. The children had all types of cerebral palsy and all degrees of severity rated according to the Gross Motor Function Classification Scale cerebral palsy. RESULTS: The M-ADL total scores showed an excellent interrater reliability (r=0.84 to r=0.89) and test-retest-reliability (r=0.91 to r=0.97). Each subscale had a good reliability (at least r=0.73). CONCLUSION: The M-ADL is a reliable, economic measure for activities of daily living for children with physical and mental delays or handicaps. The instrument may serve as a tool for quick information on the level of activities according to the International Classification of Functioning (ICF).

Activities of Daily Living↗

PubMed2005

Long-term course of adolescent schizophrenia.

Our study investigated premorbid functioning, course, and outcome in early-onset schizophrenia. All inpatients with DSM-III-R diagnoses of schizophrenia (n = 101) consecutively admitted between 1983 and 1988 to the Department of Child and Adolescent Psychiatry at the University of Marburg in Germany were included. To assess premorbid adaptation and precursor symptoms, we administered the Instrument for the Retrospective Assessment of the Onset of Schizophrenia, which we modified to assess children and adolescents. Symptomatology was measured by the Scale for the Assessment of Negative Symptoms, the Scale for the Assessment of Positive Symptoms, and the Brief Psychiatric Rating Scale. In addition, the Global Assessment of Functioning was applied. Followup data for 81 patients (80.2%) were available. The mean duration of schizophrenia at followup was 9.5 +/- 2.2 years. Assessment of the highest level of adaptive functioning revealed very good or good outcome in 19.8 percent of the patients, fair or poor outcome in 38.2 percent, and very poor outcome and gross impairment in 42.0 percent. Premorbid adjustment was the best predictor of outcome in our schizophrenia sample. A poor prognosis was found in patients with premorbid developmental delays and those who were introverted and withdrawn before their psychotic state.

Adolescent↗