scholarly journals Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

2003 ◽  
Vol 61 (2A) ◽  
pp. 176-180 ◽  
Author(s):  
Carlos Eduardo Steiner ◽  
Marilisa Mantovani Guerreiro ◽  
Antonia Paula Marques-de-Faria
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Imaging Study ◽  
Molecular Study ◽  
Diagnostic Evaluation ◽  
Laboratory Evaluation ◽  
Similar Proportion ◽  
Inborn Errors ◽  
Dsm Iv ◽  
Atypical Autism

With the aim of analyzing which complementary tests are relevant in the diagnostic evaluation of individuals with pervasive developmental disorders, a protocol of clinical and laboratory evaluation was applied in 103 outpatients. The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study. Eighty-four subjects concluded the complementary tests and were classified either as having autism, atypical autism or Asperger syndrome according to the DSM-IV criteria. Sixteen individuals, all bellonging to the two autistic groups, presented genetic or enviromental factors that may have lead to the behavioral disorders, showing the importance of diagnostic evaluation in this group of conditions. Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.

Autism and the pervasive developmental disorders

2012 ◽  
pp. 1633-1643
Author(s):  
Fred R. Volkmar ◽  
Ami Klin
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Treatment And Prevention ◽  
Communicative Development ◽  
Icd 10 ◽  
Stereotyped Movement ◽  
Dsm Iv ◽  
Social Communicative ◽  
Rett’S Syndrome ◽  
Atypical Autism

The pervasive developmental disorders (PDDs) are characterized by patterns of deviance and delay in social-communicative development in the first years of life, which are associated with restricted patterns of interest or behaviour. The prototypic PDD is childhood autism; other conditions included in the PDD class in ICD-10 include Rett's syndrome, childhood disintegrative disorder, Asperger's syndrome, and atypical autism. Except for one additional category in ICD-10 (hyperkinetic stereotyped movement disorder), the disorders included in ICD-10 and DSM-IV are essentially identical. In this chapter each of these conditions will be reviewed in terms of their clinical features, definition, epidemiology, course, and aetiology; final sections of the chapter address aspects of treatment and prevention for the group of disorders as a whole (Box 9.2.3.1).

scholarly journals Specialist assessment clinic for pervasive developmental disorders

1998 ◽  
Vol 22 (11) ◽  
pp. 706-708 ◽  
Author(s):  
Niall Falls
Keyword(s):  
Social Interaction ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Child And Adolescent Psychiatry ◽  
Psychiatric Training ◽  
Assessment Clinic ◽  
Icd 10 ◽  
Significant Impairment ◽  
Dsm Iv ◽  
Clinically Significant

Aims and methodThe Joint Committee on Higher Psychiatric Training lists the ability to carry out a thorough clinical assessment including physical and mental state examination, as one of the essential core skills in child and adolescent psychiatry. Experience of the assessment of comparatively rare disorders may depend upon the organisation of regional services, as well as good working relationships between teams willing to involve the trainee.ResultsThis paper describes a six-month attachment to the first multi-disciplinary Specialist Assessment Clinic for Pervasive Developmental Disorders to be created in Northern Ireland. Assessments are multi-dimensional and multi-professional. Attachment to this specialist clinic has become a valuable resource, with demand exceeding availability of places.Clinical implicationsThe pervasive developmental disorders are characterised by onset before 36 months, qualitative impairments in social interaction and communication (both verbal and non-verbal), and a pattern of repetitive or stereotyped activities or interests (DSM-IV). Diagnostic criteria for these disorders have broadened since the introduction of DSM-IV and ICD–10. For example, both have now agreed the validity of Asperger's syndrome, featuring difficulties in social interaction, restricted and repetitive areas of interest, without clinically significant impairment of intelligence or language development.

Terapia cu ajutorul calului ca metodă sportivă în afecțiunile psihomotorii: Un studiu controlat pretest-posttest

2017 ◽  
Vol 8 (1-2) ◽  
pp. 87-116
Author(s):  
Anca Nicoleta Bîlbă
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Alternative Therapy ◽  
Assessment System ◽  
Control Group ◽  
Psychomotor Disorders ◽  
Icd 10 ◽  
Adaptive Behavior Assessment System ◽  
Group A ◽  
Atypical Autism

Pervasive developmental disorders are a series of illnesses characterized by delays in the development of some basic functions, such as the ability to communicate and socialize, but also through a small number of interests or activities, and according to ICD-10 (1996), in this category can include childhood autism, where deficiencies at these levels are identified, being identified until the age of three years or atypical autism - common in people with mental retardation or with responsive language disorders. A form of alternative therapy focused on these dimensions is horse-therapy therapy, a rapidly expanding approach in recent years, both with the aim of empirical substantiation and implementation of its different application centers to alleviate psychomotor deficiencies and emotional. This study aims to analyze the results obtained from horse-assisted therapy on psychomotor disorders in children with autistic spectrum disorders, epilepsy, ADHD or cerebral palsy. A group of 64 children aged between 2 and 14 years, biological age, participated in the study. 41 children were part of the study group, 23 constituting the control group. A controlled research model with pretest-posttest measurements was used. The effect of horse therapy on adaptive skills was evaluated. The ABAS II Adaptive Behavior Assessment System was used to measure these skills. The results indicate that hypothyroid therapy is effective in increasing the adaptability of children with psychomotor disorders.

scholarly journals Evidence based case report: Pyridoxine supplementation in children with pervasive developmental disorders

2014 ◽  
Vol 54 (3) ◽  
pp. 186
Author(s):  
Sekarpramita Darmaputri ◽  
Tjhin Wiguna
Keyword(s):  
Serotonin Receptors ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Social Withdrawal ◽  
Neurodevelopmental Disorder ◽  
Psychotropic Medications ◽  
The Other ◽  
Evidence Based ◽  
Atypical Autism

Pervasive developmental disorders (PDD)is defined as a neurodevelopmental disorder,c haract erized by social withdrawal,communication deficits, and repetitivebehaviors. PDD include autistic disorder, Rett'ssyndrome, childhood disintegrative disorder, Asperger' ssyndrome, and pervasive developmental disorder nototherwise specified or atypical autism.1 Update ofepidemiological studies published between 1966 and2006 show reports of estimated prevalence for autismhas varied between 3 .31 and 86 children per 10,000, 2and predominantly occurs in males than females(male:female ratio = 4: 1) .3There is a hypothesis that behavioral problemsin children with pervasive developmental disorderare highly associated with the neurotransmitterimbalances. Therefore, psychotropic medications (eg.atypical antipsychotics, selective serotonin reuptakeinhibitors, and psychostimulants), which work ondopamine and serotonin receptors, are the FDAapprovedmedications for PDD.4 On the other hands,the use of novel, unconventional, and/or off- labeltreatments associated with the n eurotransmitterspathway for children with POD is increasing andmore common.

The incidence and prevalence of pervasive developmental disorders: a Danish population-based study

2004 ◽  
Vol 34 (7) ◽  
pp. 1339-1346 ◽  
Author(s):  
M. B. LAURITSEN ◽  
C. B. PEDERSEN ◽  
P. B. MORTENSEN
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Asperger’S Disorder ◽  
Asperger's Disorder ◽  
Population Based ◽  
Incidence Rates ◽  
Childhood Autism ◽  
Prevalence Studies ◽  
Incidence Studies ◽  
Atypical Autism

Background. Based on prevalence studies and the few incidence studies of pervasive developmental disorders (PDDs) the prevalence and incidence of these disorders have been claimed to be increasing.Method. The annual and age-specific prevalence and incidence rates of childhood autism, atypical autism, Asperger's disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS) in Denmark during the period 1971–2000 in children younger than 10 years were estimated using data from the Danish Psychiatric Central Register.Results. A total of 2·4 million children younger than 10 years were followed and 2061 cases with the PDDs studied were identified. Generally, the prevalence and incidence rates of the PDDs studied were stable until the early 1990s after which an increase in the occurrence of all disorders was seen, until 2000. The annual incidence rate per 10000 children younger than 10 years was 2·0 for childhood autism, 0·7 for atypical autism, 1·4 for Asperger's disorder, and 3·0 for PDD-NOS in 2000. We calculated a ‘corrected’ prevalence of childhood autism at 11·8, atypical autism at 3·3, Asperger's disorder at 4·7, and PDD-NOS at 14·6 per 10000 children younger than 10 years on 1 January 1 2001.Conclusions. We found that the estimated prevalences of the PDDs studied were probably underestimated. Furthermore, the increasing prevalence and incidence rates during the 1990s may well be explained by changes in the registration procedures and more awareness of the disorders, although a true increase in the incidence cannot be ruled out.

scholarly journals How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 661-672
Author(s):  
Roshini S. Abraham
Keyword(s):  
Management Strategies ◽  
Genetic Defect ◽  
Adaptive Immune System ◽  
Immune Dysregulation ◽  
Diagnostic Evaluation ◽  
Laboratory Evaluation ◽  
New Paradigm ◽  
Inborn Errors ◽  
Susceptibility To Infection ◽  
Interpretation Of Results

Abstract The identification of genetic disorders associated with dysregulated immunity has upended the notion that germline pathogenic variants in immune genes universally result in susceptibility to infection. Immune dysregulation (autoimmunity, autoinflammation, lymphoproliferation, and malignancy) and immunodeficiency (susceptibility to infection) represent 2 sides of the same coin and are not mutually exclusive. Also, although autoimmunity implies dysregulation within the adaptive immune system and autoinflammation indicates disordered innate immunity, these lines may be blurred, depending on the genetic defect and diversity in clinical and immunological phenotypes. Patients with immune dysregulatory disorders may present to a variety of clinical specialties, depending on the dominant clinical features. Therefore, awareness of these disorders, which may manifest at any age, is essential to avoid a protracted diagnostic evaluation and associated complications. Availability of and access to expanded immunological testing has altered the diagnostic landscape for immunological diseases. Nonetheless, there are constraints in using these resources due to a lack of awareness, challenges in systematic and logical evaluation, interpretation of results, and using results to justify additional advanced testing, when needed. The ability to molecularly characterize immune defects and develop “bespoke” therapy and management mandates a new paradigm for diagnostic evaluation of these patients. The immunological tests run the gamut from triage to confirmation and can be used for both diagnosis and refinement of treatment or management strategies. However, the complexity of testing and interpretation of results often necessitates dialogue between laboratory immunologists and specialty physicians to ensure timely and appropriate use of testing and delivery of care.

Difficulties in the Understanding of False Belief: Specific to Autism and other Pervasive Developmental Disorders?

1998 ◽  
Vol 82 (1) ◽  
pp. 51-57
Author(s):  
Peter Muris ◽  
Pim Steerneman ◽  
Harald Merckelbach
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
False Belief ◽  
Autistic Children ◽  
False Belief Task ◽  
Normal Children ◽  
Not Otherwise Specified ◽  
Atypical Autism ◽  
Better Than

The present study examined the performance on a false belief task of atypical autistic children, i.e., children with a pervasive developmental disorder not otherwise specified ( n = 50), socially immature children (n = 50), and normal children ( n = 50). Children were shown a chocolate box and its unexpected content, i.e., a pencil, and then required to indicate what a friend would say about the content of the box. Results can be summarized: (1) over-all, 3-year-old children performed less well than children of 6 years. (2) Responses of 3-year-old atypical autistic and socially immature children did not differ significantly from those of normal children of the same age. (3) At age 6, normal children performed better than atypical autistic and socially immature children. (4) In general, no differences in performance between atypical autistic and socially immature children were found, and (5) their performance was linked to intelligence. The results support prior findings that atypical autistic children find it difficult to understand false beliefs; however, this difficulty does not seem to be specific for (atypical) autism, but might be a common feature of social immaturity in general.

scholarly journals A clinical study of phenomenology in subjects with pervasive developmental disorders

2018 ◽  
Vol 6 (11) ◽  
pp. 3629
Author(s):  
Dhananjay Chaudhari ◽  
Vivek Agarwal ◽  
Prabhat Sitholey
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Rating Scale ◽  
Nuclear Family ◽  
Age Groups ◽  
Childhood Autism ◽  
Language Communication ◽  
Icd 10 ◽  
History Of ◽  
Atypical Autism

Background: Pervasive Developmental Disorders (PDD) are group of developmental disorder with impairments in interaction, communication and behaviour. The study aims to explore the phenomenological aspects of subjects with PDD.Methods: Patients in Psychiatry outpatient department (OPD), presented with impairment in social- interaction, language, communication and mental retardation were assessed for features of PDD by applying Developmental Behaviour Check List (DBCL), ICD-10 Diagnostic Criteria for Research and Multi-Axial version of ICD-10. The subjects were assessed for severity of PDD on Childhood Autism Rating Scale (CARS).Results: Total number of screened positive cases were 20, in which males were over-represented (90%). Majority belonged to urban locality (65%) and nuclear family (75%). Cases of childhood autism were found in all age groups, while childhood disintegrative disorder, Rett’s disorder and atypical autism were found in younger subjects. No family history of PDD was found in 1st degree relatives of PDD subjects. Five subjects (25%) had birth and perinatal complication.Conclusions: The mean age at presentation of the children with PDD was 8.12 years. Eighty percent (80%) of the subjects had severe autism on CARS.  Hyperactivity, inattention and impulsivity were present in 90%, 80% and 45% of subjects respectively.

Terapia cu ajutorul calului ca metodă sportivă în afecțiunile psihomotorii: Un studiu controlat pretest-posttest

2018 ◽  
Vol 8 (1-2) ◽  
pp. 87-116
Author(s):  
Anca Nicoleta Bîlbă
Keyword(s):  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Alternative Therapy ◽  
Assessment System ◽  
Control Group ◽  
Psychomotor Disorders ◽  
Icd 10 ◽  
Adaptive Behavior Assessment System ◽  
Group A ◽  
Atypical Autism

Pervasive developmental disorders are a series of illnesses characterized by delays in the development of some basic functions, such as the ability to communicate and socialize, but also through a small number of interests or activities, and according to ICD-10 (1996), in this category can include childhood autism, where deficiencies at these levels are identified, being identified until the age of three years or atypical autism - common in people with mental retardation or with responsive language disorders. A form of alternative therapy focused on these dimensions is horse-therapy therapy, a rapidly expanding approach in recent years, both with the aim of empirical substantiation and implementation of its different application centers to alleviate psychomotor deficiencies and emotional. This study aims to analyze the results obtained from horse-assisted therapy on psychomotor disorders in children with autistic spectrum disorders, epilepsy, ADHD or cerebral palsy. A group of 64 children aged between 2 and 14 years, biological age, participated in the study. 41 children were part of the study group, 23 constituting the control group. A controlled research model with pretest-posttest measurements was used. The effect of horse therapy on adaptive skills was evaluated. The ABAS II Adaptive Behavior Assessment System was used to measure these skills. The results indicate that hypothyroid therapy is effective in increasing the adaptability of children with psychomotor disorders.

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