scholarly journals Family paracentric inversion of the short arm of chromosome X (Xp21.2p11.23) and connection with autism spectrum disorders

2012 ◽  
Vol 140 (11-12) ◽  
pp. 760-764 ◽  
Author(s):  
Milica Pejovic-Milovancevic ◽  
Marija Vesic ◽  
Marko Jelisavcic ◽  
Snezana Niksic ◽  
Gordana Radivojevic-Pilic ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Cytogenetic Analysis ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Clinical Signs ◽  
Autism Spectrum ◽  
Paracentric Inversion ◽  
Chromosome X ◽  
Spectrum Disorders ◽  
Genetic And Environmental Factors

Introduction. Autism spectrum disorders (ASDs) are a group of complex pervasive developmental disorders characterized by impairments in communication, social interaction and behavior. In most cases autism is caused by a combination of genetic factors and environmental risk factors. In 10% to 20% of cases it has been shown that the cause of ASD is genetic. Case Outline. We are describing a 2-year-old boy who was referred to genetic counseling because of speech delay and certain autism-like behavior. By cytogenetic analysis the karyotype 46, inv(X),Y was obtained. The boy was a carrier of a paracentric inversion of the short arm of the chromosome X. After cytogenetic analysis of parental blood, it was detected that mother was a carrier of identical aberration, but had no clinical signs. The method of fluorescent in situ hybridization (FISH) yielded the precise breakpoint in the region (p21.2p11.23). Mother and son were carriers of identical X chromosome. Conclusion. Breakpoints are located in the regions that have already been linked to autism, which indicates that the positional effect of the gene could have been a possible cause of the patient?s genotype. In addition to positional effects, in order to better understand the etiology of autism other genetic and environmental factors should be always taken into consideration.

scholarly journals Current Approaches to Differential Diagnostics of Autism Spectrum Disorders and Similar Conditions

2019 ◽  
pp. 1-13
Author(s):  
Elena A. Chereneva ◽  
Irina Ya. Stoyanova ◽  
Olga L. Belyaeva
Keyword(s):  
Autism Spectrum Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Stereotyped Behavior ◽  
Autism Spectrum ◽  
Treatment Programs ◽  
Differential Diagnostics ◽  
Formation Mechanisms ◽  
Number Of Patients ◽  
Spectrum Disorders

Autism spectrum disorders ASD is a group of pervasive developmental disorders, manifested mainly through the lack of ability to social interaction, communication disruption and stereotyped behavior. Despite of generally recognized practical and theoretical significance of studying the mechanisms of formation, it still has got little attention. The article represents some approaches to differential diagnosis of autism and similar conditions. The authors make an attempt to find out the main reasons for such sharp increase in the number of patients suffering from this disease. The article aims analysis of existing research and contains the results of complex diagnostics and the mechanisms of disorders formation. In solving the problem of ASD formation mechanisms, clinical data, medical history data, genetic confounding factors and course of prenatal, natal and postnatal periods are used. In their findings, the authors develop the technology for ASD and similar conditions differential diagnostics; diagnostic markers and algorithm for the development of psychological and pedagogical treatment programs are suggested

scholarly journals Pervasive Developmental Disorders and Autism Spectrum Disorders: Are These Disorders One and the Same?

2011 ◽  
Vol 8 (1) ◽  
pp. 67 ◽  
Author(s):  
Masaru Tateno ◽  
Saya Kikuchi ◽  
Kumi Uehara ◽  
Kyoko Fukita ◽  
Naoki Uchida ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorders

Handling the Psychological Distress of Parents of Children with Autism Spectrum Disorders:

2012 ◽  
Vol 11 (1) ◽  
pp. 35
Author(s):  
Indiramma V ◽  
Seema P Uthaman ◽  
Shoba Srinath
Keyword(s):  
Autism Spectrum Disorders ◽  
Psychological Distress ◽  
Group Intervention ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Second Phase ◽  
Group Setting ◽  
Spectrum Disorders

Autism Spectrum Disorders are pervasive developmental disorders affecting many children today. Parenting a child with special needs, such as children with autism, is very taxing, as they need intensive and life-long intervention in diverse areas. This paper is an attempt to assess the need of those parents of children with autism and to develop an intervention programme to take care of the psychosocial issues. The study had two phases. In the first phase 120 parents of children with autism spectrum disorders were interviewed using a semi structured interview schedule and GHQ 28. In the second phase,   an intervention module was prepared and implemented with 20 parents. The results show that the mean psychological distress was significantly higher for mothers compared to fathers. The scores on subscales show that mothers have higher level of somatic symptoms, anxiety and insomnia, social dysfunction and depression compared to fathers. The pre and post analysis of the group intervention shows that there is a drop in the level of distress and increase in the awareness on child’s illness in parents after the group intervention. The findings show that addressing parental needs in a group setting can be very effective and beneficial in helping parents reduce their distress levels and hence making them better equipped to look after their child with a disability like autism. Keywords: Autism, parent intervention module, psychological distress, group work

Differential diagnosis of adolescent and adult pervasive developmental disorders/autism spectrum disorders (PDD/ASD): a not uncommon diagnostic dilemma

1999 ◽  
Vol 16 (4) ◽  
pp. 145-148 ◽  
Author(s):  
Michael Fitzgerald
Keyword(s):  
Autism Spectrum Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Specific Treatment ◽  
Autism Spectrum ◽  
Mental Illnesses ◽  
Diagnostic Categories ◽  
Core Deficit ◽  
Adult Psychiatry ◽  
Spectrum Disorders

The failure to recognise the pervasive developmental disorders/autism spectrum disorders is probably not uncommon in adult psychiatry. Indeed some of the treatment-resistant chronic mental illnesses are due to the failure to make this diagnosis and apply more appropriate treatment.Patients with PDD/ASD cause considerable diagnostic difficulties in both inpatient and outpatient adolescent and adult psychiatry. Clinical experience suggests that patients with PDD/ASD in adulthood have been misdiagnosed as having schizophrenia resulting in inappropriate treatment. Mesibov and Handlan state that the diagnostic situation is complicated because the characteristics of autism are less pronounced in older clients. It is critical that an accurate diagnosis is given because of the specific treatment implications. In the past decade there have been considerable developments in our understanding of autism. The importance of bringing the developmental viewpoint into adult psychiatry is now highly relevant. Unfamiliar diagnostic categories now have to be considered by adolescent and adult psychiatrists. Grounds for the deletion of adult psychiatric disorders, eg. simple schizophrenia from ICD102 may exist. Instead PDD/ASD disorder may need to be considered.As the purpose of diagnosis is to ensure appropriate client management, it is essential that diagnostic criteria are continually reviewed in view of clinical observation and research developments. In this paper, diagnostic categories causing confusion are outlined, and that these are variants of the core deficit of autism is suggested. The major PDD/ASD diagnoses in adolescence and adulthood are listed below.Two of the following are required for the diagnosis of autism:

The Role of Serotonin in Autism-Spectrum Disorders

CNS Spectrums ◽  
1997 ◽  
Vol 2 (5) ◽  
pp. 25-42 ◽  
Author(s):  
Marc N. Potenza ◽  
Christopher J. Mcdougle
Keyword(s):  
Clinical Trials ◽  
Autism Spectrum Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Adolescents And Adults ◽  
Spectrum Disorders ◽  
Serotonergic Dysfunction

AbstractWhile the etiologies of pervasive developmental disorders (PDDs) appear complicated, multifactorial, and relatively poorly understood research over the last 30 to 40 years has implicated certain neurochemicals in the pathophysiology of these diseases. From these studies, a great deal of evidence has emerged supporting a role for serotonergic dysfunction in individuals with autism and related disorders. Recent clinical trials of drugs influencing serotonergic systems have demonstrated promising effects in children, adolescents, and adults with PDDs.

Autism and Autism Spectrum Disorders: Clinical Overview

2013 ◽  
Author(s):  
Lisa Joseph ◽  
Sarah Spence ◽  
Audrey Thurm
Keyword(s):  
Autism Spectrum Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Diagnostic Assessment ◽  
Model Systems ◽  
Assessment Process ◽  
Spectrum Disorders ◽  
Clinical Overview

Autism spectrum disorders (otherwise known as pervasive developmental disorders) are neurodevelopmental conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors. In order to provide a framework for appreciating the advances that basic science and model systems have made to the field, this chapter will outline the behaviorally defining features of the disorder and describe the phenotype of autism. We will present the current diagnostic conceptualization and criteria for autism spectrum disorders, discuss the diagnostic assessment process, explore frequently co-occurring problems in individuals with autism, and introduce various types of treatments that are frequently employed in this population.

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