objective mental retardation (mr) or intellectual disability is one of three chronic and disabling neurological disorders of children and adolescents. its prevalence is estimated 1-3% of the population. mr is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. mr may come into view before 5 years as delay in at least two...

Chromosomal microarray analysis (CMA) may be considered medically necessary as first-line testing in the initial postnatal evaluation of individuals with any one of the following:  Apparently nonsyndromic developmental delay/intellectual disabilityOR  Autism spectrum disorder OR  Two or more congenital anomalies not specific to a well-delineated genetic syndrome Chromosomal microarray analys...

В статье проводится анализ понятий «дизонтогенез», «нарушение развития», «расстройство описываются факторы нарушений. Проведен научных источников, описывающих данные виды отклонений в развитии. Сделан акцент на необходимости понимания индивидуальных норм развития ребенка. Описываются результаты деятельности междисциплинарной работы специалистов. научной литературе нет четкого разграничения опре...

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism...

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven ...

INTRODUCTION Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. CASE PRESENTATION Here, we report a 4 ½ year-old female with classical 45,X Turner syn...

This article reviews recent sociocultural studies of families of children with intellectual disabilities to introduce the range of research conducted from this perspective and to highlight the methodological, conceptual, and theoretical contributions of this approach to the study of mental retardation. Sociocultural studies examine families within their cultural, historical, and sociopolitical ...