Role of Psychology Treatment in "Anxiety Disorder"

In order to manage the emotional and psychological problems in special population such as mental retardation. HIV positive cases and so on. A comprehensive management of this type of cases includes psychotherapy. Here it is necessary to know about this concept and its beauty in various disorders. It is a psychological method which is called psychotherapy (Talking Cure). Psychotherapy is a systematic attempt to manage the mental and emotional disorders with the help of psychological means a variant of this approach came in 1960s. Which was called cognitive behavior therapy. Recent days this approached has been brought revolution in management of psychological, behavioral and emotional problems. This paper will enhance our knowledge regarding status of psychological method in various disorders and mental illnesses.

MMR-Rare Can Be There

We report a case of a 10-year-old male who had megalocornea with mental retardation(Neuhauser syndrome). It is a rare syndrome with a few cases reported in literature. These patients also require a thorough systemic examination as many diseases are often associated with megalocornea.

An Overview on Issues Among Individuals With Intellectual Disability in India

Intelligence is the general mental capacity that involves reasoning, planning, solving problems, thinking abstractly, comprehending complex ideas, learning efficiently, and learning from experience. Intellectual disability (previously termed “mental retardation”) shows significant cognitive deficits (IQ score of below 70, i.e., two standard deviations below the mean of 100 in the population) and also significant deficits in functional and adaptive skills. Individuals with intellectual disability meet with various challenges in every span of life. The chapter tries to highlight some of the areas that are related to the concerns for the people with intellectual disability.

Intellectual Disability (ID)

Intellectual disability (ID, also known as mental retardation) is a condition of arrested or incomplete development of the mind. ID is especially characterized by impairment of skills manifested during the developmental period, which contribute to the overall level of intelligence (i.e., cognitive, language, motor, and social abilities). The understanding about intellectual disability, mainly its features, causes and intervention has a long history. Researches on causes of intellectual disability lead to finding of multiple etiological factors which reflected well on its improved management techniques. The changes in terminology used describe intellectual disability also reflected our understanding about it different dimensions including social stigma. This chapter focused to give an overall view about its history, changes in terminology, classification, epidemiology, etiology, comorbidities, and management. Over the years, there are many changes and findings that have happened, yet many questions are unanswered related to this condition.

Formation of Communication Skills in Junior Schoolchildren with Intellectual Disabilities in the Conditions of Inclusive Education

The article deals with pedagogical and psycho-correctional means of ensuring communicative interaction of junior schoolchildren with disabilities (with mild and moderate mental retardation) in the context of inclusive education. Specifics of development of cognitive, emotional, personal-motivational, communicative and behavioural components of communication of a unique personality of a junior schoolchild under correctional and developmental influence and in the conditions of inclusive education are analysed. The definition of communication skills of children with special educational needs has been clarified. Systematic - neuropedagogical, competence, personality-oriented and communicative-activity approaches to consideration of methodical tools for formation of communicative skills in junior schoolchildren taking into account their special needs and individual capabilities are applied. A model of formation of communicative-personal potential in children with intellectual disabilities and correction of their communicative individual-psychological properties has been developed. The program on formation of communicative competence and providing positive motivation for communicative interaction among students with intellectual disabilities, taking into account neuropsychological and pedagogical recommendations, is substantiated.

The Feasibility and Utility of Hair Follicle Sampling To Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome

Background: Fragile X syndrome (FXS) is the most common cause inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (>200 base pairs) on the promotor region of the fragile X mental retardation 1 gene (FMR1). This leads to the deficiency or absence of the encoded protein, Fragile X mental retardation protein (FMRP). FMRP has a central role in the translation of mRNAs involved in synaptic connections and plasticity. Recent studies have demonstrated the benefit of therapeutics focused on reactivation of the FMR1 locus towards improving key clinical phenotypes via restoration of FMRP and ultimately disease modification. A key step in future studies directed towards this effort is the establishment of proof of concept (POC) for FMRP reactivation in individuals with FXS. For this it is key to determine the feasibility of repeated collection of tissues or fluids to measure FMR1 and FMRP. Methods: Individuals, ages 3 to 22 years of age, with FXS and those who were typically developing participated in this single-site pilot clinical biomarker study. The repeated collection of hair follicles was compared with the collection of blood and buccal swabs for detection of FMR1 mRNA and FMRP and related molecules. Results: There were n = 15 participants, of whom 10 had a diagnosis of FXS (7.0 ± 3.56 years) and 5 were typically developing (8.2 ± 2.77 years). Absolute levels of FMRP and FMR1 mRNA were substantially higher in healthy participants compared to full mutation and mosaic FXS participants, and lowest in the FXS boys. Measurement of FMR1 and FMRP levels by any method did not show any notable variation by collection location at home versus office across the various sample collection methodologies of hair follicle, blood sample, and buccal swab. Conclusion: Findings demonstrated that repeated sampling of hair follicles in individuals with FXS, in both, home and office settings, is feasible, repeatable, and can be used for measurement of FMR1 and FMRP in longitudinal studies.

RUBINSTEIN-TEIBI SYNDROME

Rubinstein-Teibi syndrome (RTS) is a multisystem pathology characterized by mental retardation and delayed physical development combined with characteristic external manifestations that make up a recognizable picture of the disease. The literature review highlights the clinical manifestations of RTS, considers the issues of geno-phenotypic correlations and differential diagnostics, describes the possibilities and prospects of diagnostics and treatment, taking into account the results of modern research.

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS.