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

Response of skeletal metastases to systemic chemotherapy in patients with breast cancer

This prospective study was performed to evaluate the effect of systemic chemotherapy on skeletal metastases in breast cancer patients. Serum CA15-3 concentration was determined in 86 metastatic breast cancer patients in bone and correlated to whole skeletal scintigraphy. Fifteen patients with a normal level of CA15-3 [<28 u/ml] were excluded from the study. Also, a control group of 50 breast cancer patients after radical mastectomy with no evidence of local or metastatic deposits were also subjected to bone scintigraphy and serum CA15-3 concentration. Metastatic patients were classified into five groups according to the findings of bone scan from M0 [normal bone scan] to M4 [superscan]. This study suggested that CA15-3 could be a complementary marker in evaluating patients with metastatic breast cancer to bone before and shortly after initiating chemotherapy. It has the advantage of differentiating between disease progression and flare reaction