oalib
Search Results: 1 - 10 of 100 matches for " "
All listed articles are free for downloading (OA Articles)
Page 1 /100
Display every page Item
Cytogenetic Studies in Children with Developmental Delay
Hassan S.A. El-Dawi, *El-Sayed G. Khedr, *Tarek A. Atia, **Hassan Ali
Egyptian Journal of Hospital Medicine , 2008,
Abstract: Introduction: Developmental delay (DD) could be syndromic or non-syndromic, and collectively it affects 10% of all children. There are numerous causes of DD that could be genetical, hormonal and/or neurological. The frequency of defected chromosomal anomalies in patients with DD is variable and estimates between 9% and 36%. However, the accurate diagnosis needs further tests based on the information gather from parents and the findings on physical examination. Objective: We aim to evaluate the pattern of chromosomal abnormalities in children with non-syndromic DD, in order to detect the treatable cases, and offering an appropriate genetic counseling. Methodology: 50 children suffering from DD with or without mental retardation(MR) and/or congenital anomalies were subjected to the present study. Additionally, another 50 normally developed children were considered as control group. Peripheral blood samples were collected, cultured, harvested, metaphase spread and then chromosomes were stained for G-banding using Trypsin-Giemsa technique. Chromosomes were analyzed, metaphase spreads were captured, and karyotyping has been done. Result: Seven cases (14%) out of the 50 affected children carried structural chromosomal rearrangements. Six (85.7%) out of the seven structural chromosomal abnormalities were detected in autosomal chromosomes and one (14.3%) in sex chromosome. Surprisingly, we have found a case (2%) carrying pericentric inversion of chromosome 3 within the normal control group. Conclusions: Chromosomal studies are valuable in detecting such cases with DD. Prenatal genetic diagnosis is of clinical importance to prevent and offer genetic counseling. Additionally, small proportion of apparently normal population could carry some types of structural chromosomal anomalies
The Effects of Sodium Valproate in Improving Developmental Delay in Seizure-Free Children with Abnormal Electroencephalography
Parvaneh Karimzadeh,Seyed Hassan Tonekaboni,Farhad Mahvelati Shamsabadi
Iranian Journal of Medical Sciences , 2009,
Abstract: Background: Developmental delay is one of the most commonproblems of children referred to pediatric neurology clinics.While there are reports on rehabilitation and its effects,limited studies are available to delineate pharmacotherapy ofsuch children. Because many children with developmental delayhave abnormal findings in electroencephalography, weaimed to treat a group of these children, who were seizure freewith sodium valproate to find the effect of sodium valproate inimproving the developmental delay.Methods: We included patients referred to Mofid Children’sHospital for developmental delay who had no organic or brainstructural diseases, genetic or metabolic disorders, or intrauterineTORCH infection; however, the patients had abnormalelectroencephalograms (without seizure). After clinical, paraclinical, and neuroimaging evaluations, the patients were dividedinto two groups; those receiving treatment with sodiumvalproate and rehabilitation (experimental group, 25 patients),and those having only rehabilitation (control group, 25 patients).The patients were followed up and assessed at 6, 12,and 18 months after initiation of the study. The data obtainedwere analyzed using SPSS software.Results: All patients in the experimental group had normalelectroencephalograms after 18 months of treatment. Differencesin the scores of developmental quotient in both groups,before and after treatment were significant.Conclusion: Sodium valproate along with rehabilitation wasvery effective in the improvement of speech, mental, and behavioraldevelopment.
Psychopathology in Mothers of Children with Global Developmental Delay due to Spastic Diplegia  [PDF]
Soundarya Mahalingam, Nutan Kamath, Basavaprabhu Achappa, Deepak Madi
Asian Journal of Medical Sciences , 2014, DOI: 10.3126/ajms.v5i2.5469
Abstract: Background and Objectives: Parents of children with chronic illness like global developmental delay exhibit varied psychopathology in response to their child’s illness. Mothers of these children are more susceptible when compared to fathers, and hence show various psychopathological changes. Analysis of their psychological status is important to identify those families which need psychological help and counseling. The main aim of our study was to evaluate psychopathology in mothers of children with global developmental delay due to spastic diplegia. We also assessed the impact of intervention of the child on the psychological state of the mother over a 12 month follow up. Materials and methods: 60 mothers of children with global developmental delay due to spastic diplegia were selected from Neurodevelopmental Clinic of a tertiary care institution. Symptom Checklist 90 Revised (SCL90R) was used to assess psychopathology. A repeat evaluation of mothers was done after 12 months of conventional intervention (Bobath technique) for their child. Data was analyzed using appropriate statistical measures. Results: On assessing the psychiatric morbidity by SCL 90R, significant psychopathology was found in 54(90%) out of 60 mothers. Depression was the predominant psychopathology in the study population. Anxiety was also significantly elevated. The GSI (General Symptomatic Index), a measure of general distress was extremely high in 90% of the mothers. On follow up analysis of mothers using SCL 90R, 33% of the mothers showed no improvement in their psychological status following conventional intervention for their child. Conclusions: Chronic illness like global developmental delay affects the psychological health of mothers. In addition to purely focusing on the medical management of the child it is essential to focus attention on the distress experienced by their parents. Psychological therapy is hence required to improve the quality of life of mothers. DOI: http://dx.doi.org/10.3126/ajms.v5i2.5469 ? Asian Journal of Medical Science, Volume-5(2) 2014: 80-84
Evaluation Children with Global Developmental Delay: A Prospective Study at Sultan Qaboos University Hospital, Oman  [cached]
Roshan Koul,Mohammed Al-Yahmedy,Amna Al-Futaisi
Oman Medical Journal , 2012,
Abstract: Objective: A prospective study was designed to analyze risk factors and clinical features in children with global developmental delay (GDD) at our hospital. No previous data is available on GDD from Oman.Methods: This study was conducted at Sultan Qaboos University Hospital from January 2008 until June 2009. All the children aged 5 years or less, referred with suspected GDD were included in the study. Data was analyzed to determine the underlying etiology. The children with neurodegenerative disease and muscular dystrophy were excluded from the study.Results: One hundred and ten children, 59 males (53.6%) and 51 females (46.4%) were included in the study. The mean age at initial evaluation was 13.29 months. An underlying etiology was determined in 79 (71.8%) children. Perinatal history was associated with significant difference in detection of etiology (p=0.039). Abnormal neurological examination was a significant factor in detection of the underlying etiology. Magnetic resonance imaging (MRI) in 105 children and metabolic screening in 93 children were the most frequently ordered investigations. Abnormal imaging, MRI (p=0.001), CT scan (p=0.036) and metabolic screening (p=0.034) were significantly associated with detection of etiology.Conclusion: Etiology was detected in 71.8% of the children. MRI was the most significant investigation to detect the abnormality.
Causes of developmental delay in children of 5 to 72 months old at the child neurology unit of Yaounde Gynaeco-Obstetric and Paediatric Hospital (Cameroon)  [PDF]
Séraphin Nguefack, Karen Kengne Kamga, Boniface Moifo, Andréas Chiabi, Evelyn Mah, Elie Mbonda
Open Journal of Pediatrics (OJPed) , 2013, DOI: 10.4236/ojped.2013.33050
Abstract:

Background: According to the World Health Organization, about 5% of children world-wide of 14-year-old and under have a moderate to severe developmental disability, and up to 15% of children under 5-year-old are developmentally delayed. Purpose: To determine the prevalence, socio-demographic profile, aetiologies, and the clinical presentation of developmental delay in children less than 6-year-old at the child neurology unit in a university-affiliated hospital in Yaounde. Materials and methods: It was a crosssectional descriptive study carried out in Yaounde Gynaeco-Obstetric and Paediatric Hospital (Cameroon) from August to December 2012. Children aged between 5 - 72 months with a developmental quotient less than 70 were enrolled. Developmental delay (DD) was diagnosed and classified using the Denver developmental screening test (DDST). Data concerning the child (age, gender, severity of DD), the mother (age, age at conception, educational level, marital status), history of pregnancy and delivery, perinatal and postnatal events, results of para-clinical explorations (EEG, CT-scan, genetic tests), the severity of DD and the probable or demonstrate cause of DD were recorded on a standardized questionnaire. The chisquare test was used to compare variables. Results: During the study period, 2171 children aged 5 - 72 months consulted the paediatric department of the hospital, 296 were examined at the child neurology unit of which 153 had a developmental quotient less than 70, giving a hospital prevalence of 7.0% and a prevalence of 51.7% at the child neurology unit. The mean age was 26.6 ± 18.0 months and there were 56% males. The main reason for consulting was tonus disorder (43.8%) and the developmental area of parental concern was the motor domain (90.2%). Regarding the clinical presentation, 75.2% of our population were children with cerebral palsy. DD was severe, mild, moderate and profound respectively in 14.2%, 13.5%, 12.2%, and 11.1%. Gross DD represented 90.2% of all DD children. The causes of DD were hypoxic-ischemic encephalopathy (41.8%), epilepsy (13.7%), sequelae of meningitis (6.5%), sequelae of kernicterus (6.5%), and infectious embryofoetopathies (5.2%). Conclusion: Developmental delay is frequent in paediatric neurology, with perinatal disorders being the leading aetiologies in Cameroon. Prevention of perinatal hypoxic-ischemic encephalopathy risk factors

Correlation between high-risk pregnancy and developmental delay in children aged 4-60 months
F Torabi, SAA Akbari, S Amiri, F Soleimani, HA Majd
Libyan Journal of Medicine , 2012,
Abstract: Background: The future development of children is considered more than ever now due to the advances in medical knowledge and thus the increase in survival rates of high-risk infants. This study investigated the correlation between high-risk pregnancy and developmental delay in children aged 4- 60 months. Methods: This descriptive study was conducted on 401 mothers and their children (460 months) who visited health service centers affiliated to Isfahan University of Medical Sciences, Iran, in 2011. Sampling was carried out in several stages, and the Ages and Stage Questionnaire was completed by the participants. Data were analyzed with SPSS 18 software and independent t-test; Mann-Whitney and logistic-regression tests were used. Results: The average age of children in the low-risk pregnancy group was 22916 months, and that in the highrisk pregnancy group was 18.9914.8 months. The majority of children were female (53.1%). The prevalence of high-risk pregnancies was 80.5%, and the prevalence of developmental delay was 18.7%. Multiple pregnancies, low birth weight, habitual abortions, maternal medical disorders in pregnancy, and gestational diabetes had significant correlations with developmental delay in children (PB0.04). In the logistic model, male gender, low birth weight, family marriage, and maternal medical disorders during pregnancy showed significant correlations with developmental delay in children (PB0.05). Additionally, abnormal body mass index (BMI) and social and economic status showed probability values close to the significance level (P0.05), whereas other high-risk pregnancy variables had no correlation with developmental delay in children. A correlation between high-risk pregnancy and developmental delay (P0.002) and fine motor delay was observed (P 0.02), but no correlation was observed between high-risk pregnancy and other developmental domains. Conclusion: This study showed that some high-risk pregnancy variables had a significant correlation with developmental delay. Moreover, a significant correlation was observed between high-risk pregnancy and fine motor developmental delay.
Correlation between anthropometric indices at birth and developmental delay in children aged 4–60 months in Isfahan, Iran  [cached]
Amir Ali Akbari S, Montazeri S,Torabi F,Amiri S,Soleimani F
International Journal of General Medicine , 2012,
Abstract: S Amir Ali Akbari,1 S Montazeri,2 F Torabi,3 S Amiri,3 F Soleimani,4 H Alavi Majd51Department of Midwifery, Faculty of Nursing and Midwifery, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Reproductive Health, British Columbia, Canada; 3Faculty of Nursing and Midwifery, Shahid Beheshti, University of Medical Sciences, Tehran, Iran; 4Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; 5Department of Biostatistics, Faculty of Paramedical, Shahid Beheshti University of Medical Sciences, Tehran, IranBackground: Advances in medical knowledge and treatment modalities have resulted in an increased survival rate for high-risk infants. This increased number of survivors enables study of the future development of these children. Other than infection and trauma, developmental and behavioral problems are the most common medical problems among such children. This study sought correlations between anthropometric indices at birth and developmental delay in children aged 4–60 months who visited health service centers affiliated with the Isfahan University of Medical Sciences in 2010.Methods: In this descriptive, correlational study, 401 children aged 4–60 months and visiting health service centers were selected using a multistage method. Anthropometric indices at birth were collected from their health care records, and developmental status was measured using the Ages and Stages Questionnaire, the validity (0.84) and reliability (0.94) of which were obtained from a previous study.Results: The mean age of the children in the normal group was 17.33 ± 13.18 months and that in the developmental delay group was 29.92 ± 19.19 months. Most children in the normal group were female (56%) and in the developmental delay group were male (55.2%). No correlation was found between height and head circumference at birth and developmental delay. However, the birth weight of children with developmental delay was four times lower than that of children with normal development (P = 0.004, odds ratio 4).Conclusion: Birth weight and male gender were factors that strongly correlated with developmental delay in this study.Keywords: anthropometric indices, developmental delay, children
The use of array-CGH in a cohort of Greek children with developmental delay
Emmanouil Manolakos, Annalisa Vetro, Konstantinos Kefalas, Stamatia-Maria Rapti, Eirini Louizou, Antonios Garas, George Kitsos, Lefteris Vasileiadis, Panagiota Tsoplou, Makarios Eleftheriades, Panagiotis Peitsidis, Sandro Orru, Thomas Liehr, Michael B Petersen, Loretta Thomaidis
Molecular Cytogenetics , 2010, DOI: 10.1186/1755-8166-3-22
Abstract: Fourteen CNVs were detected in the studied patients. In nine patients (11%) the chromosomal aberrations were inherited from one of the parents. One patients showed two duplications, a 550 kb duplication in 3p14.1 inherited from the father and a ~1.1 Mb duplication in (22)(q13.1q13.2) inherited from the mother. Although both parents were phenotypically normal, it cannot be excluded that the dual duplication is causative for the patient's clinical profile including dysmorphic features and severe developmental delay. Furthermore, three de novo clinically significant CNVs were detected (3.7%). There was a ~6 Mb triplication of 18q21.1 in a girl 5 years of age with moderate MR and mild dysmorphic features and a ~4.8 Mb duplication at (10)(q11.1q11.21) in a 2 years old boy with severe MR, multiple congenital anomalies, severe central hypotonia, and ataxia. Finally, in a 3 year-old girl with microcephaly and severe hypotonia a deletion in (2)(q31.2q31.3) of about ~3.9 Mb was discovered. All CNVs were confirmed by Fluorescence in situ hybridization (FISH). For the remaining 9 patients the detected CNVs (inherited duplications or deletions of 80 kb to 800 kb in size) were probably not associated with the clinical findings.Genomic microarrays have within the recent years proven to be a highly useful tool in the investigation of unexplained MR. The cohorts reported so far agree on an around 11% diagnostic yield of clinically significant CNVs in patients with unexplained MR. Various publicly available databases have been created for the interpretation of identified CNVs and parents are analyzed in case a rare CNV is identified in the child. We have conducted a study of Greek patients with unexplained MR and confirmed the high diagnostic value of the previous studies. It is important that the technique becomes available also in less developed countries when the cost of consumables will be reduced.Mental retardation (MR) is a common disorder for which the genetic diagnosis in man
Correlation between anthropometric indices at birth and developmental delay in children aged 4–60 months in Isfahan, Iran
Amir Ali Akbari S, Montazeri S, Torabi F, Amiri S, Soleimani F, Alavi Majd H
International Journal of General Medicine , 2012, DOI: http://dx.doi.org/10.2147/IJGM.S34806
Abstract: rrelation between anthropometric indices at birth and developmental delay in children aged 4–60 months in Isfahan, Iran Original Research (991) Total Article Views Authors: Amir Ali Akbari S, Montazeri S, Torabi F, Amiri S, Soleimani F, Alavi Majd H Published Date August 2012 Volume 2012:5 Pages 683 - 687 DOI: http://dx.doi.org/10.2147/IJGM.S34806 Received: 08 June 2012 Accepted: 15 July 2012 Published: 21 August 2012 S Amir Ali Akbari,1 S Montazeri,2 F Torabi,3 S Amiri,3 F Soleimani,4 H Alavi Majd5 1Department of Midwifery, Faculty of Nursing and Midwifery, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Reproductive Health, British Columbia, Canada; 3Faculty of Nursing and Midwifery, Shahid Beheshti, University of Medical Sciences, Tehran, Iran; 4Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; 5Department of Biostatistics, Faculty of Paramedical, Shahid Beheshti University of Medical Sciences, Tehran, Iran Background: Advances in medical knowledge and treatment modalities have resulted in an increased survival rate for high-risk infants. This increased number of survivors enables study of the future development of these children. Other than infection and trauma, developmental and behavioral problems are the most common medical problems among such children. This study sought correlations between anthropometric indices at birth and developmental delay in children aged 4–60 months who visited health service centers affiliated with the Isfahan University of Medical Sciences in 2010. Methods: In this descriptive, correlational study, 401 children aged 4–60 months and visiting health service centers were selected using a multistage method. Anthropometric indices at birth were collected from their health care records, and developmental status was measured using the Ages and Stages Questionnaire, the validity (0.84) and reliability (0.94) of which were obtained from a previous study. Results: The mean age of the children in the normal group was 17.33 ± 13.18 months and that in the developmental delay group was 29.92 ± 19.19 months. Most children in the normal group were female (56%) and in the developmental delay group were male (55.2%). No correlation was found between height and head circumference at birth and developmental delay. However, the birth weight of children with developmental delay was four times lower than that of children with normal development (P = 0.004, odds ratio 4). Conclusion: Birth weight and male gender were factors that strongly correlated with developmental delay in this study.
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
Gregorio León-García, Alfredo Santana, Nicolás Villegas-Sepúlveda, Concepción Pérez-González, José M Henrríquez-Esquíroz, Carlota de León-García, Carlos Wong, Isabel Baeza
BMC Pediatrics , 2012, DOI: 10.1186/1471-2431-12-150
Abstract: An 11-month-old male Caucasian infant was studied because of hypotonia, ataxia and global developmental delay. The patient presented low levels of serum copper and ceruloplasmin, and was shown to be hemizygous for the p.T1048I mutation in ATP7A. The diagnosis was confirmed when the patient was 18 months old, and treatment with copper-histidinate (Cu-His) was started immediately. The patient showed some neurological improvement and he is currently 8 years old. Because the p.T1048I mutation affects its catalytic site, we expected a complete loss of functional ATP7A and a classical Menkes disease presentation. However, the clinical course of the patient was mild, and he responded to Cu-His treatment, which suggests that this mutation leads to partial conservation of the activity of ATP7A.This case emphasizes the important correlation between genotype and phenotype in patients with Menkes disease. The prognosis in Menkes disease is associated with early detection, early initiation of treatment and with the preservation of some ATP7A activity, which is necessary for Cu-His treatment response. The description of this new mutation and the response of the patient to Cu-His treatment will contribute to the growing body of knowledge about treatment response in Menkes disease.Menkes disease (MD) (OMIM #309400) is an X-linked recessive disorder of copper metabolism; it is caused by mutations in the ATP7A gene [1]. There are several clinical variants of MD: classical MD (90–95% of patients), mild MD, occipital horn syndrome [2] and a new syndrome characterized by isolated distal motor neuropathy, no signs of copper deficiency and adult onset [3]. Classic MD is characterized by neonatal neurological degeneration, coarse and twisted hair, hypopigmentation and seizures; death usually occurs by the age of three years [2]. Mild MD is a moderate form of the disease, in which cerebellar ataxia and moderate developmental delay predominate [4]. Occipital horn syndrome is the mildest form
Page 1 /100
Display every page Item


Home
Copyright © 2008-2017 Open Access Library. All rights reserved.