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Results for “developmental delay”

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At least 1,567 records · Page 87Linked to original sources
PubMed2002

Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero.

The protective function of the skin is mediated by the stratum corneum, the outermost layer of the skin, which is the end-product of epidermal differentiation. Previously, we showed that fetal rat skin explants complete the late-stage milestones of epidermal development when grown in a serum- and growth-factor-free medium, suggesting that endogenous metabolites could regulate the late program that leads to barrier formation. Because a variety of endogenous free fatty acids are known activators, peroxisome proliferator-activated receptor alpha (PPAR-alpha) is a potential candidate for this key regulatory role. Indeed, whereas PPAR-alpha expression is first noted at gestational day 13.5 and peaks between days 14.5 and 15.5, fatty acid synthesis is very active in fetal rodent epidermis peaking at gestational day 17. Furthermore, we have reported that both epidermal differentiation and stratum corneum formation in utero are stimulated by pharmacologic activation of PPAR-alpha. This study was designed to test whether PPAR-alpha plays a physiologic role in epidermal differentiation and stratum corneum formation in utero. In PPAR-alpha-/- mice we observed delayed stratum corneum formation between day 18.5 of gestation and birth. Concurrently, there was diminished beta-glucocerebrosidase activity at the stratum granulosum-stratum corneum junction and a modest decrease in both involucrin and loricrin protein expression, markers of keratinocyte differentiation. Both the number of stratum corneum cell layers was reduced and the processing of the lamellar bilayers was delayed in animals lacking PPAR-alpha, indicating a transient functional defect. In contrast, the lamellar body secretory system as well as rates of epidermal proliferation and cell death appeared normal in PPAR-alpha-/- mice. These results indicate that PPAR-alpha plays a physiologic role during fetal stratum corneum development. The transient and incomplete nature of the developmental delay, however, is consistent with regulation of the late stages of epidermal development by multiple factors.

Animals↗
PubMed2003

[Developmental disorder in girls due to Rett syndrome].

Three girls with Rett syndrome are presented. Patients A and B had initially exhibited normal development, patient C showed severe developmental delay from birth on. In all three stereotypical hand movements arose which led to Rett syndrome being suspected. For patients A and B the clinical diagnosis was further supported by the identification of mutations in the MECP2-gene. In patient C, the mutation found turned out to be a neutral variant. Rett syndrome is a X-linked developmental disorder, which is particularly prevalent in girls. In 70-90% of clinically diagnosed RS patients a mutation is detected. MECP2-mutations result in a far wider range of phenotypes than classic RS. Mutations of this gene also occur in boys, with or without Rett-syndrome type phenotypes.

Child↗
PubMed1993

Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).

We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.

Adolescent↗
PubMedDate not supplied

Vision despite tomographic absence of the occipital cortex.

A 14-month-old boy with developmental delay showed microcephaly, spastic diplegia, central visual fixation and an esotropia. A head tomographic scan disclosed absence of normal occipital cortex and electroencephalography showed markedly reduced voltages over the occipital region. Visual development in this patient may be related to heterotopic occipital cortex of a functioning non-striate system of visual processing. Visual function cannot be predicted when severe developmental anomalies of the occipital cortex are detected with computerized tomography.

Abnormalities, Multiple↗
PubMed1996

Behavioral side effects of gabapentin in children.

We report 7 children who received gabapentin (GBP) as adjunctive medic ation and subsequently developed behavioral side effects. These behavioral changes consisted of intensification of baseline behaviors as well as new behavioral problems. Behaviors that parents considered most troublesome were tantrums, aggression directed toward others, hyperactivity, and defiance. All behavioral changes were reversible and were managed by dose reduction or discontinuation of GBP. All children had baseline attention deficit hyperactivity disorder and developmental delays.

Acetates↗
PubMed2001

Differential developmental regulation and functional effects on pre-TCR surface expression of human pTalpha(a) and pTalpha(b) spliced isoforms.

Functional rearrangement at the TCRbeta locus leads to surface expression on developing pre-T cells of a pre-TCR complex composed of the TCRbeta-chain paired with the invariant pre-TCRalpha (pTalpha) chain and associated with CD3 components. Pre-TCR signaling triggers the expansion and further differentiation of pre-T cells into TCRalphabeta mature T cells, a process known as beta selection. Besides the conventional pTalpha transcript (termed pTalpha(a)), a second, alternative spliced, isoform of the pTalpha gene (pTalpha(b)) has been described, whose developmental relevance remains unknown. In this study, phenotypic, biochemical, and functional evidence is provided that only pTalpha(a) is capable of inducing surface expression of a CD3-associated pre-TCR complex, which seems spontaneously recruited into lipid rafts, while pTalpha(b) pairs with and retains TCRbeta intracellularly. In addition, by using real-time quantitative RT-PCR approaches, we show that expression of pTalpha(a) and pTalpha(b) mRNA spliced products is differentially regulated along human intrathymic development, so that pTalpha(b) transcriptional onset is developmentally delayed, but beta selection results in simultaneous shutdown of both isoforms, with a relative increase of pTalpha(b) transcripts in beta-selected vs nonselected pre-T cells in vivo. Relative increase of pTalpha(b) is also shown to occur upon pre-T cell activation in vitro. Taken together, our data illustrate that transcriptional regulation of pTalpha limits developmental expression of human pre-TCR to intrathymic stages surrounding beta selection, and are compatible with a role for pTalpha(b) in forming an intracellular TCRbeta-pTalpha(b) complex that may be responsible for limiting surface expression of a pTalpha(a)-containing pre-TCR and/or may be competent to signal from a subcellular compartment.

Antigens, CD↗
PubMed2004

Filippi syndrome: two cases with ectodermal features, expanding the phenotype.

We report two unrelated children with Filippi syndrome. Both show typical facial dysmorphism, syndactyly of fingers and toes, growth retardation, postnatal microcephaly and developmental delay, particularly involving speech. In addition both children have unusual teeth and hair. We review the literature and propose that neurological and ectodermal involvement may be under-recognised features of the syndrome.

Adolescent↗
PubMed1991

Experience with chronic peritoneal dialysis in infants.

We describe our experience with chronic peritoneal dialysis in 17 infants. Fourteen boys and 3 girls, aged 2.7-22.5 months, were on continuous ambulatory peritoneal dialysis (CAPD) for 215.1 months with 5 infants on continuous cycling peritoneal dialysis (CCPD) for 71.2 months subsequently. Analysis of growth and biochemical data on 16 CAPD and 5 CCPD patients showed poor linear growth despite improved weight gain, high incidence of developmental delay, tendency to lower plasma albumin, phosphate and sodium and increased plasma cholesterol and triglyceride levels. Overall chronic peritoneal dialysis proved to be a possible and effective means of dialysis in infants.

Child, Preschool↗
PubMed1995

Developmental toxicity of N-methylformamide administered by gavage to CD rats and New Zealand white rabbits.

N-Methylformamide (NMF) is a metabolite of dimethylformamide (DMF), a solvent with wide applications in the chemical industry. The potential developmental toxicity of NMF was evaluated in CD rats and New Zealand white rabbits. Pregnant rats and rabbits were dosed once daily by gavage on Gestation Days 6-15 and 6-18, respectively. Doses for rats were 0, 1, 5, 10, or 75 mg/kg; doses for rabbits were 0, 5, 10, or 50 mg/kg. Cesarean sections were performed on rats and rabbits on Gestation Days 20 and 29, respectively. No treatment-related maternal deaths or clinical signs occurred in either species. Body weight gain and food consumption were depressed in rats given 75 mg/kg and rabbits given 50 mg/kg. Fetal viability was reduced at 75 mg/kg in rats and at 50 mg/kg in rabbits. In rats, a significant increase in the incidence of malformations including cephalocele and sternoschisis was observed in fetuses from the 75 mg/kg group. In addition, a developmental delay was indicated by reduction of fetal weight and by a significant increase in the occurrence of incomplete ossification of various skeletal structures. In the rabbit, fetal body weight was reduced at 50 mg/kg. Malformations observed at 50 mg/kg included gastroschisis, cephalocele, domed head, flexed paw, and skull and sternum anomalies. The lowest-observed-adverse-effect levels for maternal and developmental toxicity in the rat and rabbit were 75 and 50 mg/kg, respectively. The no-observed-adverse-effect level for maternal and developmental toxicity in the rat and rabbit was 10 mg/kg.

Abnormalities, Drug-Induced↗
PubMed2001

Follow-up study of bedwetting from 3 to 5 years of age.

OBJECTIVES: To evaluate the relationship between bedwetting and development in infancy. METHODS: Questionnaires concerning micturition habits and development at 3 and 5 years of age were completed by the parents of 157 children who had had their health checked by pediatricians at a group checkup at 3 years of age. RESULTS: The percentage of bedwetters in whom the frequency of bedwetting was at least once a month was 53% at 3 years of age and 21% at 5 years of age. The prevalent resolution period of bedwetting in infants was 2.5 to 3.5 years of age. The head circumference for boys at birth differed significantly between the bedwetters and nonbedwetters at both ages. Daytime symptoms were more frequent among bedwetters at both ages. Earlier toilet training had no influence on bedwetting at 5 years of age, although it led to earlier control at night at a younger age. Delays in speaking and walking might be factors connected to bedwetting. The prevalence of bedwetting in boys was higher than that in girls. Multiple logistic regression analysis revealed that daytime incontinence and sex were significant factors for bedwetting at 5 years of age. CONCLUSIONS: Daytime incontinence and sex were the significant factors for bedwetting in infancy. Head circumference for boys and developmental delays in speaking and walking might also be important factors.

Body Height↗
PubMed2002

The behaviors of parents of children with autism predict the subsequent development of their children's communication.

The present study focused on behaviors that caregivers of children with autism show during play interactions, particularly the extent to which the caregiver's behavior is synchronized with the child's focus of attention and ongoing activity. The study had two major findings. First, caregivers of children with autism synchronized their behaviors to their children's attention and activities as much as did caregivers of children with developmental delay and caregivers of typically developing children, matched on language capacities. Second, caregivers of children with autism who showed higher levels of synchronization during initial play interactions had children who developed superior joint attention and language over a period of 1, 10, and 16 years than did children of caregivers who showed lower levels of synchronization initially. These findings suggest a developmental link between parental sensitivity and the child's subsequent development of communication skills in children with autism. Implications for parent training interventions are discussed.

Attention↗
PubMed2005

Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation.

We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.

Abnormalities, Multiple↗
PubMed1988

Mothers' internal models of relationships and children's behavioral and developmental status: a study of mother-child interaction.

Interactional behavior of mothers and preschool children was studied in light of mothers' internal models of relationships and select child characteristics. Children with behavior problems who were developmentally intact (n = 20) and developmentally delayed (n = 20), and a matched nonclinic group (n = 24), were studied in a problem-solving session. Mothers' help and support, and children's approach to tasks, relationship to mother, and overall experience were scored. Mothers' internal models of relationships, based on descriptions of childhood relationships, were characterized as detached, preoccupied, or secure (attachment classifications). Results showed children's behavioral and developmental status, as well as mothers' internal models, to be associated with dyadic behavior. Children's behavior corresponded to mothers' internal models and to behavioral and developmental status even with the effects of mothers' behavior removed. Discriminant analysis correctly classified 93% of the sample into clinic and nonclinic groups and into the 3 attachment classifications.

Affect↗
PubMed1990

Neural maturational delay as a link in the chain of events leading to SIDS.

Although numerous etiological or triggering factors have been suggested in sudden infant death syndrome (SIDS), the underlying mechanism of death is ultimately cardiac and/or respiratory in nature. As there is no evidence of lung or heart abnormalities, attention has focussed on the neural control of respiration and cardiac function. It is important to appreciate the methodological limitations involved in utilizing autopsy material and the criteria for selection of appropriate controls. This report reviews the pathological evidence for developmental delay in SIDS emphasizing delay of neural maturation of both myelination and synapses. Other abnormalities of the nervous system apparently associated with hypoxia-ischemia such as brainstem astrogliosis are also discussed. The occurrence of SIDS at a precise age together with our preliminary studies indicate that neural development delay is an important link in the chain of events leading to SIDS.

Heart↗
PubMed1986

Buggery in childhood--a common syndrome of child abuse.

18 girls and 17 boys, aged 14 months to 8 years, with a history and physical signs of buggery were selected from a large series of sexually abused children seen by two paediatricians in Leeds, child population 146 000, over 8 months. In 27 children disclosure of abuse by the child or perpetrator (most commonly the father) was recorded. Anal findings on inspection included fissures, dilatation and reflex dilatation, loss of sphincter, shortening and eversion of the anal canal, external venous congestion, and generalised reddening and thickening of perianal tissues. Vaginal signs of dilatation or marked redness were found in 14 girls but penile penetration of the vagina was uncommon. Associated findings included non-accidental injury, emotional deprivation and failure to thrive, developmental delay, and behavioural disturbance. Buggery in young children, including infants and toddlers, is a serious, common, and under-reported type of child abuse.

Adult↗
PubMed1995

Very early onset nonorganic failure to thrive in infants.

Nonorganic failure to thrive (NOFTT) occurs in absence of any gastrointestinal, endocrine, or other chronic diseases. It is usually associated with psychosocial deprivation, although behavior problems may also contribute to its occurrence in absence of maternal pathology. We report seven infants and children between the ages of 13 and 30 months at the time of presentation, who failed to consume adequate calories and suffered from delayed growth. All were born at term after normal pregnancies with birth weights and lengths between the 50th and 95th percentiles except in one. None had any history of perinatal problems. Decreased intake was encountered almost immediately after birth, with lack of interest in consuming adequate calories. The evaluations performed did not reveal any specific etiology for the decreased intake. None had any developmental delay nor were there any psychiatric conditions in mothers. Changes in formulas or psychologic intervention were unsuccessful in modifying feeding habits except in two infants. All were supplemented with enteral supplements (Pediasure-five, Ensure-one, and Osmolite-one). Three did not consume enough orally and needed nasogastric tube infusions with eventual placement of gastrostomy tubes in two, and the third one has continued with nasogastric infusions. A significant increase in caloric intake caused improvement in growth percentiles. Height and weight percentiles improved in all and crept into the normal curve in four and five patients, respectively. Head circumference of two stayed at < 5th percentile despite nutritional rehabilitation. Attempts at weaning off the supplements actually resulted in weight loss in all. Our data suggest that there is a critical need for early, aggressive nutritional intervention in such infants.

Body Height↗
PubMedDate not supplied

Ease of administration of the cognitive adaptive test/clinical linguistic and auditory milestone scale (CAT/CLAMS) during pediatric well-child visits.

Barriers to early identification of children with developmental delays include time constraints during well-child visits and lack of easily administered, quantitative measures that can be used by pediatricians. This study assesses the ease of administration of the Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS) during well-child visits from 2 to 36 months of age. During a single visit 177 children were assessed by either a developmental pediatrician (n = 121) or a third-year pediatric resident (n = 56). The mean time required to complete the CAT/CLAMS for all subjects was 6 minutes and 10 seconds (SD 2 minutes 44 seconds); less than 10 minutes was required in 92% of children assessed. There were no significant differences in the time required by the 2 examiners at any age level. Its ease of administration and psychometric properties make the CAT/CLAMS an excellent choice for the assessment of early development by primary care pediatricians.

Analysis of Variance↗