Subject(s)
Chromosome Disorders/drug therapy , Galantamine/administration & dosage , Intellectual Disability/drug therapy , Molecular Targeted Therapy , Seizures/drug therapy , alpha7 Nicotinic Acetylcholine Receptor/genetics , Child, Preschool , Chromosome Deletion , Chromosome Disorders/genetics , Chromosomes, Human, Pair 15/genetics , Female , Humans , Intellectual Disability/genetics , Pediatrics , Seizures/genetics , alpha7 Nicotinic Acetylcholine Receptor/antagonists & inhibitorsABSTRACT
Over the last 20 years, researchers have been mixing qualitative and quantitative approaches, but mixed methods research represents a new movement that arose in response to the currents of qualitative and quantitative research, considered separately. Little has been published on the use of polar coordinate analysis in psychotherapy. This type of analysis can provide detailed information and integrate the qualitative-quantitative analysis. Even less has been published on the analysis of ASD children's behavior. The main aim of this study was to implement this mixed methods methodology to analyze patterns of social behaviors in a group of adolescents with ASD during a group social competence intervention program. Moreover, we wanted to see whether an observational scale could be combined fruitfully with polar coordinate analysis and to investigate whether typical ASD behaviors show similar interrelations (prospective and retrospective sequentialities) as behaviors observed in psychotherapy. We used an adaptation from the Social Skills Training Program (UC Davis, California). We observed that each participant took a unique course, increasing or decreasing the number and quality of their social behaviors. In accordance with previous literature, results suggest some increment in the amount of appropriate social conduct. We did not detect a generalized progress pattern but agreed that there were changes between the beginning and end of the intervention. Therefore, we consider that observational methodology is useful in the field of psychotherapy and ASD, offering detailed information about changes and development that cannot be obtained with other traditional measures, such as questionnaires.
ABSTRACT
AIM: To perform metabolic testing on 406 patients (age range 3-22y [mean 6.71, SD 4.15], 343 males and 63 females) with nonsyndromic autism spectrum disorders (ASD) to assess the diagnostic yield. In addition, we reviewed our hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), and described the characteristics of those with IEM and nonsyndromic ASD. METHOD: Neuropsychological evaluation included the Social Communication Questionnaire and Child Behavior Checklist. For metabolic testing/screening, urine samples were analyzed for the diagnosis of cerebral creatine deficiency syndromes, purine and pyrimidine disorders, amino acid metabolism defects, mucopolysaccharidoses, and organic acidurias. RESULTS: The 406 recruited participants fulfilled the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) criteria of ASD. No biochemical evidence of a metabolic disorder was detected in any of the 406 patients studied. Concerning the retrospective evaluation from the 8500 who had metabolic testing, 464 individuals had a diagnosis of an IEM (394 without the diagnosis of ASD and 70 with ASD diagnosis). Only one individual with IEM had a diagnosis of nonsyndromic ASD at the time of the metabolic study; the metabolic testing had revealed diagnosis of urea-cycle disorder. INTERPRETATION: Metabolic testing should be considered in the work-up of individuals with syndromic ASD, but metabolic testing is not cost-effective for individuals with nonsyndromic ASD.
Subject(s)
Autism Spectrum Disorder/complications , Metabolism, Inborn Errors/complications , Metabolism, Inborn Errors/diagnosis , Adolescent , Child , Child, Preschool , Chromatography, High Pressure Liquid , Creatine/urine , Creatinine/urine , Female , Humans , Male , Metabolism, Inborn Errors/psychology , Metabolism, Inborn Errors/urine , Neuropsychological Tests , Psychiatric Status Rating Scales , Retrospective Studies , Social Communication Disorder/diagnosis , Social Communication Disorder/etiology , Surveys and Questionnaires , Young AdultABSTRACT
The use of touchscreen applications for the iPad(®) allows children with disabilities to improve their personal autonomy and quality of life. In light of this emerging literature and our clinical experience with toddlers and children with Fragile X syndrome (FXS), a randomized clinical trial pilot study was conducted of whether an interactive iPad(®)-based parent training program was efficacious for both individuals with FXS and autism spectrum disorder aged 2-to-12 compared to wait-listed controls. As a second goal, we assessed the difference between direct person-to-person therapy vs. online therapy sessions through telehealth. In this case series report it is presented preliminary results of four individuals with FXS enrolled in the study and described the innovative experience including qualitative and quantitative data analysis. Furthermore, we provide professionals with specific guidelines about the use of touchscreen devices as in-home learning tools and parent training strategies to actively involve families in educational treatments in conjunction with clinical guidance.
