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

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