Objective: Intellectual disability is the most common developmental disorder that originates before the age of 18 years and is characterized by limitation in intellectual functioning and adaptive behaviour. The fact that >30 to 50% of all causes are still unknown in etiology is increasing the burden of the clinical evaluators and managers handling these children. The purpose of this study was to have an optimal genetic diagnostic evaluation to assist paediatricians in providing medical advice for children with intellectual disabilities and global developmental delays.
Methods: The study was initiated with 385 cases; however, only 201 cases had no cytogenetic abnormality and negative for PCR test for FXS. However, these subjects showed characteristic signs of facial dysmorphisms, developmental delay, mild to severe intellectual disability, which were unique and unspecific with lack of major hallmarks for any particular syndrome/phenotype, considered as “idiopathic” and tested for MLPA analysis and subsequently confirmed by FISH and RT-qPCR.
Results: A total of 23 (11.44%) cases were found to have submicroscopic chromosomal variations [microdeletions (18 cases), microduplications (5 cases)]. We categorized the aberrations detected in these cases as novel and as variants of uncertain significance. All these cases showed clear evidence for segregation of the variation and were provided with the required genetic counselling.
Conclusion: MLPA method gives a better yield in combination with karyotype analysis. The detection rate as per current analysis suggests that the use of MLPA could be a robust, high throughput yet cost-effective technique for use in a diagnostic set up.
PMDD is also associated with a high psychiatric co-morbidty. The twelve month and lifetime co-Thir is a ~ross-sectional~.ttldents' hostel based st@ aiming to SIN^ [he prevalence of PMS and PMDD, the morbidity rates are high with regard to anxiety disorder, mood disorder and somatoform pychiatic 'useness and the satrjfa~'tioon with /$ in the women with PMS and PMDD. It a i m to sttldy'thepychosoba4 dsorders. Some authors report upto 39% coobstetric and yesg/e ~cort-elates o/ PMJ and PMDD. morbidity with anxiety and mood disorders (Bailey et al, 1999). There is also an increased The preva/eflce of PMS Waf 15.3% and of PMDD prevalence of alcohol abuse and eating dsorders. 4%. Thepy~hiatric 'cmeness'wus58.62% in these women. l-here is some data to suggest that the late twenties There a dati~ticalh signzj~unt diference U??IOtIgs/ these to the mid thirties is the most rnlnerable period women and noma/s on vanubles szr6. h as manta/ ~.tuttrs, for p~s to occur and worsen (lzreeman et al, l~onsflmption of regu/ar meah, regular sleep hubils and 2003). M~~~ researches have investigated the histo7 oj' I'MS in thefarnib. ~atirfu~.lion with lifk scores psychosocial and obstetric correlates of P~D .were lower among these women.There is some evidence to suggest that housewives ' JUNIOR RESI DENT, ** PROFESSOR OF PSYCHIATRY, "* PSYCHIATRIC SOCIALWORKER
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