Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, facial gestalt and developmental delay. Majority of the cases are sporadic, though autosomal dominant pedigrees have been published. Overgrowth of the hands, feet and chin overlap with the clinical features of acromegaly. Here, we present a In chromosomal analyses, t 3;6 p21;p25 was observed, the fully karyotype was diagnosed as 46, XY, t 3;6 p21;p In his detailed familial chromosomal analyses, the same translocation was found in his father karyotype. As a result, Sotos syndrome should be in the differential diagnosis list of any patient who has acromegalic features accompanying mental retardation. Key words: Sotos syndrome, acromegaly, mental retardation, translocation carrier, macrocephaly.
The aim of the study is to estimate the prevalance of the FXS and other chromosomal aberrations by cytogenetic and molecular analysis in patients with MR and language disorders. Material and Method: 72 cases with MR who were sent to our laboratory for molecular and cytogenetic search in term of fragile X. The lymphocyte culture was carried out according to standard methods. This was followed by bisulphite treatment and PCR amplification. Results: Chromosome abnormality was found in 12 cases The mutations were detected such a full mutation and abnormal methylation in 4. We concluded that chromosomal studies in mentally retarded patients help in accurate diagnosis and proper prognosis followed by genetic counseling and management rehabilitation. Conclusion: Due to recent molecular advances, our understanding of the perplexing genetic issues surrounding fragile X syndrome has grown and diagnostic techniques have become both reliable and readily available. Fragile X syndrome FXS is the most frequent cause of familial mental retardation and it is also one of the more common genetic diseases as it constitutes about one third to a quarter of the patients with X-linked mental retardation.
Objective: Psychotropic drug use in intellectually disabled children is among the most challenging problems in current treatment modalities. The fact that many psychotropic agents fail to exhibit their expected routine action mechanisms, as well as present with unusual and rare side effects in this specifi c population, turns psychopharmacological intervention into a much more diffi cult process. With this study, we have aimed to contribute to existing literature involving pharmacological interventions with psychotropic drug use in children and adolescents, diagnosed with intellectual disability, through a thorough review of evidence-based research in relevant literature, that has been published so far. Results: Although commonly suggested type of intervention of children and adolescents with intellectual disability is special education and to treat the cause of disability, if determined or specifi ed, psychotropic drug use among this specifi c population is not scarce. These agents are especially used much more commonly among children and adolescents that present with symptoms such as aggression, self harm behaviour and self- mutilation, attention defi cit and hyperactivity problems, or symptoms that might be suggestive of depressionor anxiety. We are now better aware of the fact that psychotropic drugs tend to be less effi cient and present with more side-effects in this specifi c population, compared to those in children with normal development. Antipsychotics are the most commonly used drugs in children with intellectual disabilities.
Language: Turkish English. The control group consisted of 51children with developmental delay 25 mental retardation, 26 speech delay and 71 children with typical development in the same age group. For the reliability and validity analysis the Cronbach alpha, item-total score correlations and test-retest correlations were used. Principal components analysis and varimax rotation were used to find the factor solutions. Receiver Operator Characteristic ROC curves were utilised to detect cut-off scores, sensitivity, specificity, and negative and positive predictive values. The Cronbach alpha value of the total score was 0. ROC analysis indicated that the SCQ Total and Reciprocal Social Interaction scores differentiated very well between the autism spectrum and control group area under the curve 0. Using a cut-off score of Using a cut-off score of 7.