Study of serum copper and ceruloplasmin levels in Egyptian autistic children

Background: Autism is a behaviorally defined neurodevelopmental disorder of unknown etiology

Objective: To assess serum copper and ceruloplasmin levels in Egyptian autistic children patients

Subjects and methods: 40 participants have been subjected to thorough history taking, complete clinical examination, IQ assessment, estimation of serum copper and ceruloplasmin levels

Results: A statistically significant difference was found between patients and controls as regards stereotypic movements, absent eye contact, delayed motor development, delayed speech and IQ [p < 0.01 for each item]. Mean level of copper was significantly higher in patients than in controls [P < 0.001], also mean level of ceruloplasmin was significantly higher in patients than controls [P = 0.009]

Conclusion: Serum copper level may have a role in the pathogenesis of autism

Study of obesity associated proopiomelanocortin gene polymorphism: relation to metabolic profile and eating habits in a sample of obese Egyptian children and adolescents

Background: Melanocortinergic system represents a known system involved in the central regulation of body weight with the central proopiomelanocortin [POMC] neurons forming a potent anorexigenic network. Polymorphisms in the POMC gene locus are associated with obesity phenotypes

Aim: To assess the contribution of the POMC gene 9-bp insertional polymorphism in the susceptibility to obesity and its relation to body mass index [BMI] and adiposity-related co-morbidities in obese children and adolescents; as well as binge eating behavior

Patients and methods: Fifty obese children and adolescents with simple obesity were screened for Binge Eating Disorder [BED] by The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition [DSM-5], they were compared to 50 age, sex and pubertal stage-matched non obese controls. Anthropometric measurements, blood pressure, abdominal ultrasound for fatty liver, measurement of fasting lipid profile, fasting insulin, fasting blood glucose and assessment of POMC gene 9-bp insertional polymorphism were done

Results: Obese patients had significantly higher anthropometric measurements, blood pressure percentiles, fasting glucose, fasting insulin, homeostasis model assessment for insulin resistance [HOMA-IR] and fasting lipid profiles, and higher frequency of occurrence of non alcoholic fatty liver disease and BED. Allelic frequencies of POMC gene 9 bp insertional polymorphism were comparable in patients and controls [p= 0.956]. Fasting insulin levels were significantly higher in the heterozygous cases having the polymorphism than in wild homozygous cases; whereas no difference was observed among the controls

Conclusion: This polymorphism was associated with higher fasting insulin levels in the obese patients only. These findings support the hypothesis that the melanocortin pathway may modulate glucose metabolism in obese subjects indicating a possible gene-environment interaction. POMC variant may be involved in the natural history of polygenic obesity, contributing to the link between type 2 diabetes and obesity

Chromosomal abnormalities and autism

Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several submicroscopic variants. This study had been conducted to identify some aspects that might be involved in the pathogenesis of autism which is necessary for offering proper genetic counseling to families of autistic patients and their role in the prenatal diagnosis of autism

Methods: This cross sectional study was conducted at the Child Psychiatry Clinic, Pediatric Hospital, Ain Shams University on 30 autistic patients who were subjected to the following tools: Confirmation of diagnosis using DSM-IV-TR criteria, IQ assessment using Stanford-Binet intelligence scale and assessment of severity of autistic symptoms using childhood autism rating scale [CARS]. Full clinical examination, neurological examination, EEG, audiological assessment were also done. High resolution karyotyping was done for detection of numerical or structural chromosomal abnormalities as deletion, duplication, translocation of chromosomes

Results: All the results of cytogenetic analysis were normal with no detectable numerical or structural chromosomal abnormalities. Males are affected more than females, only one case had history of drug intake [progestin], two cases had history of anti-D injection and two cases had history of diabetes mellitus during pregnancy. Four cases had history of respiratory distress and seven cases had history of jaundice. Two cases had history of generalized tonic clonic convulsion and four cases had history of EEG abnormalities. Fifteen cases of our autistic patients had mild mental retardation and six cases had moderate mental retardation

Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques

Study the effect of hyperbaric oxygen therapy in Egyptian autistic children: a clinical trial

Numerous studies of autistic individuals have revealed evidence of cerebral hypoperfusion, neuroinflammation, gastrointestinal inflammation, immune dysregulation, oxidative stress, relative mitochondrial dysfunction, and neurotransmitter abnormalities. Many of these findings have been correlated with core autistic symptoms. For example, cerebral hypoperfusion in autistic children has been correlated with repetitive, self-stimulatory and stereotypical behaviors, and impairments in communication. Specifically, hyperbaric oxygen therapy [HBOT] has been used and can compensate for decreased blood flow by increasing the oxygen content of plasma and body tissues. The aim of this work was to study the effect of hyperbaric oxygen therapy in autistic Egyptian children. This prospective clinical trial study was conducted on 20 children diagnosed as autism based on DSM-IV-TR criteria [diagnostic and statistical manual of mental disorders, 4th edition criteria, text revised]. All patients received at least 20 sessions of hyperbaric oxygen therapy. Sessions were done at pressure 1.5 ATA [atmosphere absolute] with 100% oxygen concentration each lasting for 1-1.5 h either in multiplace chamber or monoplace chamber. MRI Perfusion of the brain was done before and after at least 20 HBOT sessions only for 6 cases. There was a statistically significant increase in the ratio of regional cerebral blood flow [RCBF] to white matter after HBOT in different brain regions when compared to their levels before HBOT. HBOT is a treatment that has recently become quite popular in the autism spectrum disorder [ASD] community. Its benefits cross a wide range of autistic traits as: improved language, increased awareness, behavior and socialization by affecting the pathophysiological findings in autism

Risk factors for autism: an Egyptian study

This study has been conducted to determine the possible risk factors of autism. This case control study was conducted at pediatric hospital, Ain Shams University on, 100 autistic patients who were subjected to the followings tools: Confirmation of diagnosis using DSM-IV-TR criteria, IQ assessment using Stanford-Binrent intelligence scale, and assessment of severity of autistic symptoms using childhood autism rating scale [CARS]. Full clinical examination, neurological examination, EEG and audiological assessment were also done. Forty-six percent of our patients with autistic symptoms presented at the age of one and half years and 32% at the age of 2 years. Fifty-five percent of our patients had mild to severe retardation [IQ = 20-70], 36% below average mentality [IQ = 71-89] and 9% with normal mentality [IQ = 90-109]. High maternal age [mother, P35 years] at birth was found in 23% of autistic children in comparison to 9.5% of controls. Also advanced paternal age [father, P35 years] at birth was found in 91% of cases in comparison to 83.5% of control group and the difference was statistically significant. Positive family history was found to be statistically significantly associated with the risk of autism [16% of cases versus 1% of control]. All studied developmental milestones were delayed among autistic children than control group [p= 0.000]. As regards natal factors, a history of low birth weight, delivery by ceserian section were significantly higher among cases than controls. Also postnatal factors as history of hypoxia, resuscitation and history of jaundice were considered significantly risk factors for autism [p=0.000]

Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation

Mental retardation is present in about 1-3% of individuals in the general population, but it can be explained in about half of the cases. A descriptive study was carried out to screen for subtle chromosomal rearrangements in a group of Egyptian children with idiopathic mental retardation [IMR] to estimate its frequency if detected. The study enrolled 30 patients with IMR, with the perquisite criteria of being <18 years at referral, their IQ <70, and manifesting at least one of the criteria for selection of patients with subtelomeric abnormalities. Males were 63.3% and females were 36.7%, with a mean age of 7.08 +/- 4.22 years. Full history taking, thorough clinical examination, IQ, visual, and audiological assessment, brain CT scan, plasma aminogram, pelvi-abdominal ultrasonography, echocardiography, and cytogenetic evaluation using routine conventional karyotyping, high resolution banding [HRB], and fluorescent in situ hybridization [FISH] technique with appropriate probes were carried out for all studied patients. All enrolled patients had apparently normal karyotypes within 450 bands resolution, except for one patient who had 46, XY, [del [18] [p11.2]]. HRB and FISH showed subtle chromosomal rearrangement in 10% of cases that have been proven to be subtelomeric in 2 cases, i.e., 6.8%: 46, XY, dup [17] [p13.3], 46, XY, del [2] [q36.1-36.3], and non-subtelomeric in one case, 5.5%, 46, XX, ins [7;?] [q22;?]. To conclude, in children with IMR and clinical phenotype indicative of a suspected chromosomal anomaly, once recognizable syndromes have been excluded, abnormalities that include the ends of chromosomes must be searched for using HRB and subtelomeric FISH even when conventional karyotyping fails to demonstrate any abnormality

Hair mercury measurement in Egyptian autistic children

A review of medical literature has shown that exposure to mercury, whether organic or inorganic, can give rise to the symptoms and traits defining or commonly found in autism spectrum disorders [ASD]. Mercury can cause impairments in social interaction, communication difficulties, and repetitive and stereotyped patterns of behavior, which comprise the three DSM-IV diagnostic criteria of autism. The aim of this work was to measure the concentration of total mercury trace elements in the hair of some Egyptian autistic children and to correlate these levels with severity of the disease. Thirty- two patients diagnosed by DSM-IV-TR criteria [diagnostic and statistical manual of mental disorders, 4th edition criteria, text revised] were subjected to hair mercury measurement using Atomic Absorption Spectrometry [AAS] and were compared to hair mercury measurement of fifteen, age and sex matched healthy children. Results revealed a highly significant increase in the mean hair mercury level in autistic patients than the control group [0.79 +/- 0.51 vs 0.12 +/- 0.086 ppm] respectively, [P < 0.001]. There was a significant increase of mercury level in autistic children who received routine and additional vaccines, and there was mild yet not significant increase in mercury level in patients with maternal history of dental amalgam and high fish consumption during pregnancy and also in autistic children whose mother received anti-D. There was a higher concentration of mercury levels in the hair of children with autism as compared to the age and sex matched healthy controls. Hair analysis is of potential usefulness for determination of mercury level and offering a chance for intervention to treat by chelation therapy

Glutathione peroxidase and selenium status: relation to outcome in neonatal sepsis with jaundice

To detect changes in serum levels of glutathione peroxidase [GPx] selenium [Se] and their relation to outcome of jaundiced septic neonates, the following study was conducted on thirty neonates. They were subdivided into group 1 [12 fullterms=FT] and group II [18 preterms-PT]. Twenty two age and sex matched apparently healthy neonates served as the control group. Results revealed that the difference between GPx and Se in FT jaundiced septic neonates [group I] versus FT controls was statistically nonsignificant [p >0 05] while the difference between them as regards total serum bilirubin was statistically highly significant [p< 0.001] Statistical comparison between results of GPx, Se and total serum bilirubin levels in PT jaundiced septic neonates [group II] compared to PT controls revealed a highly significant decrease of GPx and Se and increase in serum bilirubin [P < 0 001 respectively]. Of the studied group of septic preterms, six neontes died while no mortalities were reported in the studied group of septic fullterms during the period of the study GPx and Se were statistically significantly lower in group II [= PT] than in group I [=FT]. In conclusion, statistically significant GPx and Se decrease in PT jaundiced septic neonates [group II] can be used as predictors of outcome as regards mortality