Correlates In Children Research Articles

Foveal Structure–Function Correlation in Children With History of Retinopathy of Prematurity

To correlate visual acuity to macular spectral-domain optical coherence tomography (SD OCT) anomalies detected in children with a history of retinopathy of prematurity (ROP). Retrospective cohort study. All charts of children with a history of ROP between 2 and 18 years of age and with SD OCT performed between 2010 and 2012 were reviewed. Central foveal thickness was measured and correlated with visual acuity. Secondary outcome measures included temporal parafoveal thickness, presence of the inner nuclear layer and outer segment, gestational age at birth, sex, spherical equivalent, history of laser treatment, and developmental delay. The study included 44 better-seeing eyes of 44 patients. Sixty-four percent (28/44) of patients in our study had 20/40 or better visual acuity despite an abnormal foveal morphology in 91% of total eyes. Patients with a history of ROP demonstrate a high frequency of macular morphologic abnormalities, including retention of inner retinal layers and absent foveal depression, on SD OCT. These structural changes do not always correlate to visual acuity. Instead it appears that cone maturation may be a better indicator of visual acuity. In addition, there is a significant correlation between best-corrected visual acuity and myopia.

Genotype-Phenotype and Genotype-Origin Correlations in Children with Mediterranean Fever in Germany – an AID-Net Study

Familial Mediterranean fever (FMF) is the most inherited common autoinflammatory disease (AID) with mutations in the MEFV (MEditerraneanFeVer) gene.The Mor- and Pras-Score modified for children and C-reactive protein (CRP) were used to assess FMF disease severity in Germany. We evaluate the applicability of the 2 severity scores and the correlations between ethnic origin, phenotype, and genotype.Among 242 children (median 5 age at diagnosis), we detected 431 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The 5 most -frequent alterations were p.Met694Val (55.2%), p.Met680lle (11.8%), p.Val726Ala (10%), p.Glu148Gln (7.9%) and p.Met694IIe (2.3%). The prevailing ancestries of 223 cases were Turkish (82.5%) and Lebanese (8.1%). Homozygous p.Met694Val substitution (30.2%) was associated with a more severe disease activity by Mor-Score, as well as with a higher mean CRP (74 mg/l) compared to patients with other mutations. Indeed, Mor- and Pras-Score were inconsistent with each other. A typical distribution of mutations in different ethnic populations was obvious, but not statistically verifiable due to the low number of cases.The homozygous p.Met694Val substitution was associated with a more severe disease activity in our German cohort. The common severity scores were inconsistent in -children.

Role of Urodynamic Study in Nocturnal Enuresis: Urodynamic Findings and Treatment Outcome Correlation in Children with Pharmacotherapy-resistant Monosymptomatic Nocturnal Enuresis or Severe Non-monosymptomatic Nocturnal Enuresis.

This study aimed to determine whether or not a urodynamic study (UDS) is beneficial for management of pediatric nocturnal enuresis (NE), especially in pharmacoresistant monosymptomatic nocturnal enuresis (PRMNE) or severe non-monosymptomatic nocturnal enuresis (NMNE) patients. Children with PRMNE or severe NMNE who underwent a UDS for the process of NE treatment were retrospectively reviewed. The UDS findings of patients and treatment outcomes of subsequent tailored therapies according to the UDS findings were analyzed. A total of 80 children (50 boys and 30 girls, mean age 8.4 ± 2.2 years), 19 of which were diagnosed with PRMNE and 61 of which were diagnosed with NMNE, were included in the final analysis. Of the 19 PRMNE children, 12 (63.2%) demonstrated abnormal UDS findings. Ten demonstrated detrusor overactivity (DO) with or without decreased cystometric bladder capacity (CBC); the treatment outcomes markedly improved in all of the children after anticholinergics were added to the initial desmopressin therapy. Biofeedback was found to be helpful for two children with detrusor-sphincter dyssynergia. All of the total 61 children with NMNE demonstrated abnormal urodynamic findings of DO with or without decreased CBC, and 42 (68.9%) achieved more than partial response (> 50% decrease in the number of wet nights) when given a combination therapy of anticholinergics and desmopressin. The urodynamic findings were helpful for guiding children with PRMNE in the proper choice of further treatment strategies. A routine UDS should not be recommended prior to a first-line combination treatment in children with NMNE.

Vitamin D Levels and Insulin Resistance in Children Born with Severe Growth Restriction

This study was designed to examine differences in serum 25(OH)D levels between small-for-gestational-age (SGA) and appropriate-for-gestational-age (AGA) prepubertal children in correlation with birth weight and indices of insulin resistance and β-cell function. Sixty-five nonobese children were examined at age 5-7.5 years; 27 born SGA and 38 matched AGA. Body weight, height, BMI, and waist circumference were recorded and fasting serum levels of glucose, insulin, 25(OH)D, and parathyroid hormone (PTH) were measured. The homeostasis model assessment for insulin resistance (HOMA-IR) and the β-cell function index (HOMA-β%) were estimated. The mean level of 25(OH)D was higher in the SGA group (26.2±10 vs. 17.2±7 ng/ml, p<0.01) but that of PTH was no different. The insulin resistance and β-cell function indices were higher in the SGA group: HOMA-IR 1.34±0.67 vs. 0.99±0.53, and HOMA-β% 135±56 vs. 97±60 in the SGA and AGA groups, respectively. In the SGA group, 25(OH)D was correlated with HOMA-β% but not with HOMA-IR or insulin. In multiple regression, in the total cohort 25(OH)D and HOMA-IR were independently negatively correlated with birth weight (β= - 0.31, β= - 0.36, p<0.05) respectively. In conclusion, at prepuberty severely in utero growth restricted children have increased birth weight dependent levels of 25(OH)D, which might exert a regulatory role on β-cell function.

Clinical Features and Genotype‐Phenotype Correlations in Children With Progressive Familial Intrahepatic Cholestasis Type 3 Related to ABCB4 Mutations

The aim of the study was to estimate the frequency of ABCB4 mutations among children with chronic intrahepatic cholestasis with elevated gamma-glutamyl-transpeptidase (γ-GT) activity and to characterize the genotypes with respect to severity of symptoms, response to ursodeoxycholic acid therapy, and outcome. Molecular analysis of ABCB4 in 133 Italian children was performed, and ABCB4 mutations were classified as disease-causing mutations or benign substitutions according to the prediction algorithm PolyPhen. : Twenty-eight patients were identified carrying 31 mutations (20 disease causing). Twenty patients carried 2 mutated alleles and 8 only 1. At presentation (1-204 months), 20 children were symptomatic with jaundice and/or pruritus, whereas in 8 biochemical cholestasis was a fortuitous finding. Cirrhosis developed in 15 and 6 progressed to terminal liver failure. Disease-causing mutations on both alleles were found to be associated with reduced liver expression of ABCB4 protein, lack of response to ursodeoxycholic acid therapy, and progression to cirrhosis and end-stage liver disease, whereas mild genotypes, including single heterozygous mutations, were generally associated with less severe disease and, often, absence of symptoms. ABCB4 mutations are responsible for a chronic liver disease in more than one-third of patients with chronic intrahepatic cholestasis and elevated γ-GT activity. In patients with severe ABCB4 genotype, the disease is often progressive with risk of developing cirrhosis and liver failure during the first 2 decades of life. Patients with mild genotypes, including single heterozygous mutations, have variable expressions of liver disease that may be influenced by comorbidity factors and modulated by still unknown genetic modifiers.

Disabilities of Children in Correlation to the usage of Hair Dye among Pregnant Women

Disabilities of Children in Correlation to the usage of Hair Dye among Pregnant Women

Familial Correlations for Finger and Palmar Quantitative Dermatoglyphic Features Among the Khurkhul of Manipur

The present study examines the heretability of finger and palmar quantitative dermatoglyphic traits by calculating Karl Pearson's coefficient of correlationship 'r' and regression equation between the actual parents and children and unrelated pairings. The sample is made up of 50 couples and their 135 children (66 sons and 69 daughters) belonging to the Khurkhul community of Manipur. The traits included in the study are: total finger ridge count, absolute finger ridge count, pattern intensity index, palmar main line index, atd-angle and palmar a-b, b-c, c-d ridge counts. Highly significant correlation values higher than the theoretical value of 0.5 of parent-child were observed in the studied quantitative feature, except palmar b-c and c-d ridge counts. The estimated values of correlation coefficient 'r' found in parent (x)-child (y) correlationship for total finger ridge count (TFRC), absolute finger ridge count (AFRC) and finger pattern intensity index (PII) agree with the theoretical value of coefficient of correlation between mid-parent and the child i.e. 1/ √2 or 0.71. In all the studied quantitative dermatoglyphic features, randomly paired unrelated ones show very low correlation values when compared with those of the related parents and children's correlation values, except father-child correlation value of palmar b-c ridge count. Higher correlation coefficient values of 'r' were observed in finger than in palmar. This indicates that environmental factors exert greater effect on the palmar region in early prenatal life than do on the finger.

Possible Genotype-Phenotype Correlations in Children with Mild Clinical Course of Canavan Disease

Canavan disease is characterised as a rare, neurodegenerative disease that usually causes death in early childhood. It is an autosomal recessive disorder due to an aspartoacylase (ASPA) deficiency. The causative gene has been mapped to chromosome 17 pter-p13. Here we describe three affected children from two Greek families with an unusually mild course of Canavan disease. All children presented with muscular hypotonia and macrocephaly. Diagnosis was based on elevated N-acetylaspartate in urine, reduced aspartoacylase activity in fibroblasts, and marked white matter changes on cerebral imaging. All three affected individuals exhibited continuous psychomotor development without any regression. Genetic analyses revealed compound heterozygous mutations (Y288 C; F295 S) in two individuals. The Y288 C variant was previously described in a child with macrocephaly, mild developmental delay, increased signal intensity in the basal ganglia, partial cortical blindness and retinitis pigmentosa, and slightly elevated N-acetylaspartate in the urine. Demonstration of the same variant in two unusually mildly affected Canavan disease patients and absence of this variant in 154 control chromosomes suggest a possible pathogenic role in mild Canavan disease. In the third individual, two homozygous sequence variants were identified, which comprise the known G274R mutation and a novel K213E variant.

Genotype-Phenotype Correlations in Children with Congenital Hyperinsulinism Due to Recessive Mutations of the Adenosine Triphosphate-Sensitive Potassium Channel Genes

Congenital hyperinsulinism (HI) is most commonly caused by recessive mutations of the pancreatic beta-cell ATP-sensitive potassium channel (K(ATP)), encoded by two genes on chromosome 11p, SUR1 and Kir6.2. The two mutations that have been best studied, SUR1 g3992-9a and SUR1 delF1388, are null mutations yielding nonfunctional channels and are characterized by nonresponsiveness to diazoxide, a channel agonist, and absence of acute insulin responses (AIRs) to tolbutamide, a channel antagonist, or leucine. To examine phenotypes of other K(ATP) mutations, we measured AIRs to calcium, leucine, glucose, and tolbutamide in infants with recessive SUR1 or Kir6.2 mutations expressed as diffuse HI (n = 8) or focal HI (n = 14). Of the 24 total mutations, at least seven showed evidence of residual K(ATP) channel function. This included positive AIR to both tolbutamide and leucine in diffuse HI cases or positive AIR to leucine in focal HI cases. One patient with partial K(ATP) function also responded to treatment with the channel agonist, diazoxide. Six of the seven patients with partial defects had amino acid substitutions or insertions; whereas, the other patient was compound heterozygous for two premature stop codons. These results indicate that some K(ATP) mutations can yield partially functioning channels, including cases of hyperinsulinism that are fully responsive to diazoxide therapy.

ULTRASOUND BLADDER MEASUREMENTS IN PATIENTS WITH PRIMARY NOCTURNAL ENURESIS: A URODYNAMIC AND TREATMENT OUTCOME CORRELATION

Accurate assessment of bladder dysfunction associated with voiding dysfunctions often necessitates invasive urodynamic (UD) studies. We evaluate the use of a special ultrasound (US) protocol for the assessment of bladder dysfunction compared with urodynamic findings, and for prediction of treatment outcome in children with primary nocturnal enuresis (PNE). US measurements were performed on 514 children 5 to 18 years old (mean age 11.2) with PNE, and compared with those of 339 normal age matched children. A US protocol was specially designed for the evaluation of bladder parameters using bladder volume and wall thickness index (BVWI %), and expected percentage bladder volume index for kidney volume. Of the enuretic children 218 had severe enuretic symptoms with more than 3 wet nights a week. They underwent urodynamic studies for detailed assessment of any underlying bladder dysfunction. A standard 4-week course of desmopressin was given to these children after the US and UD studies. The US bladder parameters were then correlated with the UD findings and treatment response to desmopressin. Comparing the BVWI in normal and enuretic children in correlation with functional bladder capacities we were able to delineate bladder wall thickness and capacity as BVWI less than 70-small capacity bladder with thick wall, BVWI 70 to 130-normal bladder capacity with normal wall thickness and BVWI greater than 130-large bladder capacity with thin wall. There were statistically significant correlations between BVWI and treatment response. In addition, there was a high predictive value of normal bladder function with a normal BVWI. Patients with good response to treatment had normal BVWI, whereas poor response to treatment was significantly associated with pathological bladder conditions, that is small bladder capacity with thick bladder wall or large bladder capacity with thin bladder wall (p <0.0001). Of note, abnormalities detected by UD correlated well with bladder abnormalities measured by US. PNE comprises a diverse spectrum of conditions resulting in a mismatch of nocturnal urine production in excess of nocturnal functional bladder capacity, and underlying bladder dysfunction has an important role in the pathophysiology especially in refractory cases. This US protocol can provide useful predictive clues, which may be helpful to differentiate treatment subtypes, guide clinical management and minimize the need for invasive urodynamic studies.

Clinical and Histopathologic Features and Their Correlations in Children with Nodular Duodenitis

Clinical and Histopathologic Features and Their Correlations in Children with Nodular Duodenitis

DNA ploidy in papillary carcinoma of the thyroid gland in children and adolescents

Objective: To evaluate DNA ploidy in papillary thyroid carcinoma in children in correlation to the clinical course of the disease. Methods: Flow cytometric DNA ploidy measurements were performed on formalin-fixed, paraffin-embedded tumor specimens from 14 children and 14 adult patients with papillary carcinoma of the thyroid gland. Analysis of DNA content was performed blind to patient's age and clinical presentation. Results: Seven patients presented with cervical metastasis, one patient had distal metastasis and four patients had local invasion. All patients underwent total thyroidectomy. Seven children underwent bilateral modified neck dissection. Twenty-five tumors expressed diploid DNA content. No statistically significant difference in DNA content was observed between the tumors from child and adult patients. No correlation was found between DNA content and aggressive presentation in the pediatric group. Conclusion: Our primary results indicate that diploid DNA content is common in papillary thyroid carcinoma in children and aggressive clinical presentation is not associated with DNA aneuploidy. Larger prospective studies and long-term clinical follow-up is warranted to document the clinical significance of these observations.

Molecular-clinical correlations in children and adults with fragile X syndrome.

Fragile X syndrome is the most commonly known inherited form of mental retardation. The intellectual abilities range from a normal IQ with learning disabilities to severe mental retardation. In males, there is a tendency for IQ decline in childhood. The purpose of this study was to correlate variations of the molecular cytosine guanine guanine (CGG) amplification in the fragile X mental retardation-1 (FMR-1) gene with the clinical findings, including IQ and physical features. Full-scale IQ and cytogenetic results in 116 individuals with the FMR-1 mutation were studied. The IQ testing was performed with age-appropriate standardized tests. Physical features were summarized in a physical index score for each patient. The FMR-1 results were determined with the OX1.9 probe and the following system was used: P1 indicates premutation; P2, large premutation to small full mutation; P3, full mutation; and P4, mosaic. The findings showed that those females with a small insert in the P1 range had a significantly higher IQ than other heterozygotes (P2, P3, and P4 categories). P4 males had a significantly higher IQ than P2 or P3 males. In cross-sectional age comparisons, the slope of the IQ decline was greater in P2 males than in P4 or P3 males.

Electroencephalographic and magnetic resonance correlations in children with intractable seizures of Lennox-Gastaut syndrome and epilepsia partialis continua.

A study was performed of EEG-magnetic resonance imaging (MRI) abnormalities in 7 Lennox-Gastaut syndrome (LGS) children and 3 epilepsia partialis continua (EPC) children with intractable generalized and partial motor seizures, respectively. In 4 children with LGS and 3 children with EPC, depth electrodes were implanted in the centromedian thalamic nuclei (CM) for seizure control. In all children with LGS, hyperdense, T2-weighted MRI signals were observed at the mesencephalic level of the brainstem, whereas none of the 3 children with EPC had this finding. Patients with idiopathic LGS without cerebral hemisphere MRI abnormalities showed generalized bilateral and symmetrical spike-wave EEG activity. Patients with symptomatic LGS with unilateral hemispheric MRI abnormalities demonstrated asymmetrical EEG activity with higher amplitude spike-and-wave over the normal hemisphere. Patients with EPC with unilateral hemispheric lesions had lateralized higher amplitude spike-wave over the damaged hemisphere. These data suggest that abnormal mesencephalic MRIs are a sign of bad prognosis in patients with LGS but not with EPC. Maximal amplitude paroxysmal EEG activities may indicate the abnormal hemisphere in patients with EPC or the normal hemisphere in those with LGS.

Correlation in Children between P300 Latency and Scores on the Wechsler Intelligence Scale for Children—Revised

ABSTRACT.To clarify the correlation between P300 latency and intelligence capacity, we used two auditory discrimination paradigms (the button-pressing task and the counting task) to elicit event-related potentials (ERPs) in 50 healthy Japanese children from 5 to 16 years of age. We presented the stimuli, a series of binaural 1- and 2-kHz pure tone bursts, in random sequence. In order to evaluate our subjects' intelligence, we performed the Wechsler Intelligence Scale for Children–Revised (WISC–R) in a one-to-one manner.There was a linear regression on two tasks between P300 latencies and the WISC–R score (T-score for full-scale intelligence quotient [FSIQ], verbal IQ [VIQ], and performance IQ [PIQ]). Those correlation levels were r = −0.608 (p < 0.001) for FSIQ, r = −0.658 (p < 0.001) for VIQ, and r = −0.502 (p < 0.001) for PIQ on the button-pressing task. On this task all of the subtests (raw scores) had significant negative correlations with P300 latency. On the counting task, however, all five verbal s...

On the Correlation of Children&apos;s Confusion of Painting and Self-Recognition

On the Correlation of Children&apos;s Confusion of Painting and Self-Recognition

Chapter 15. EEG - Age Correlation in Children with Seizures

Chapter 15. EEG - Age Correlation in Children with Seizures

Familial resemblance of body weight and weight/height in 374 homes with adopted children

Body weight and weight/height were measured in 535 children adopted at the median age of 3 months, and in 250 natural children in French-Canadian origin living in 374 Montreal homes, to determine whether the shared environment contributed to the familial resemblance of weight in children aged one to 21. The mid-parent vs natural children's correlation ( r2 X 100) was 9.55% for body weight and 6.60% for W/H (p less than 0.01), whereas the mid-parent vs adopted children's correlation was 0.00% for both characteristics. The sib-sib correlation in 80 homes with greater than 1 natural child was 15.2% for weight and 13.48% for W/H (p less than 0.001), whereas in 138 homes with greater than 1 adopted child, the adoptee-adoptee correlations were, respectively, 0.00% and 0.07%. It is concluded that heredity explains most of the familial aggregation of patterns of weight and weight/height in children. This conclusion does not necessarily apply to obesity, since weight indices in children do not accurately reflect excess fat tissue, and half of the adoptees were adopted after the age of three months.