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Prevalence and Genetic Epidemiology of Developmental Disabilities
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Coleen A. Boyle, Kim Van Naarden Braun, Marshalyn Yeargin-Allsopp
Structured diagnostic instruments, such as the Autism Diagnostic Observation Schedule-General (ADOS-G) and the Autism Diagnostic Interview-Revised (ADI-R) have been developed for use in diagnostic assessments (46–48). Extensive training and ongoing monitoring for clinical reliability are necessary for the proper use of these instruments. While these instruments have improved the validity and reliability of the diagnosis of autism, they are still based on having a skilled practitioner examine specific behaviors in the child and elicit accurate historical descriptions of such behaviors from the child’s parents.
Action Evaluation and Discrimination as Indexes of Imitation Fidelity in Autism
Published in Elizabeth B. Torres, Caroline Whyatt, Autism, 2017
If we consider what makes for the motoric differences between typical development and autism, then an obvious place to start is to examine those features of behavior that are diagnostic using the standard research tools: the Autism Diagnostic Interview (ADI) and Autism Diagnostic Observation Schedule (ADOS) (Lord et al. 2000; Rutter et al. 2003). While many aspects of motor skills, such as poor balance or handwriting, may be impaired in autism, they may also be impaired in other developmental disorders. Those identified by the algorithms of the diagnostic tools are those motor skills that are linked specifically to the other diagnostic features of autism, and which are therefore directly related to impaired social cognition. If you look through the algorithmic items in the Autism Diagnostic Interview–Revised (ADI-R) and ADOS, you see that significant proportions of the items reflect motor behavior. Within the ADI-R, items asking about gaze control, facial expression, actions used for social overture, gesture, and imitation make up 10 of 29 items in the first two domains, while those asking about repetitive actions make up 3 out of 8 items in the third domain. For the ADOS, the number of action-based items becomes less as verbal development progresses across the modules and language becomes the dominant mediator of social interaction, but it remains the case that the use of actions in communication is central to the diagnosis across all modules. Again, this concerns the use of gesture, gaze, and facial expression to communicate.
The Ethics of Prodromal and Preclinical Disease Stages
Published in L. Syd M Johnson, Karen S. Rommelfanger, The Routledge Handbook of Neuroethics, 2017
Jalayne J. Arias, Jennifer C. Sarrett, Rosa Gonzalez, Elaine F. Walker
ASD is typically diagnosed in early childhood using behavioral observation and parental interview. Best practices suggest the use of a multidisciplinary team that combines diagnostic tools with clinical judgment (Woolfenden et al., 2012). There are a host of diagnostic tools and practices, but Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) are two of the most frequently used tools available. A recent meta-analysis of diagnostic tools found that, when used together, the ADOS and ADI-R have a correct classification rate of autism at 0.88 for children under 3 years old (0.84 for older children) and 0.80 for an autism spectrum disorder (Falkmer et al., 2013). Despite recommendations by the American Academy of Pediatrics ( Johnson et al., 2007) and the CDC (Centers for Disease Control and Prevention, 2016) for screening all children at 18- and 24-month checkups, studies report mean ages at diagnosis to be anywhere from 38 to 120 months (Daniels and Mandell, 2014). The CDC reports an average age of 4 years for ASD diagnoses (Christensen et al., 2016). Factors involved in diagnostic age include the number and intensity of autistic traits present and socioeconomic and geographic circumstances (Daniels and Mandell, 2014).
Roozbeh adult autism spectrum disorder clinic: lessons learned from first 34 cases
Published in International Journal of Developmental Disabilities, 2022
Javad Alaghband-rad, Samira Jamaloo, Mahtab Motamed
There are a number of limitations for our study which make generalization of our results with caution. We did not have all needed validated instruments to use in our assessments. As part of this, there are also very few studies with acceptable methodologies to draw conclusion as to what set of instruments are needed for clinical assessment. Many instruments that are used worldwide (e.g. Autism Diagnostic Interview, Revised (ADI®-R) and Autism Diagnostic Observation Schedule (ADOS)) have not yet been translated or standardized for use in Persian. Lack of a national screening system to detect developmental challenges early in life leaves many patients and their families undetected until adulthood and therefore our referrals are a heterogenous group of patients with various levels of impairment and clinical needs. Another likely limitation of our study is perhaps loss to follow-up; we could not complete our assessments in 6 patients as they did not continue their treatments.
Therapeutic approach to neurological manifestations of Angelman syndrome
Published in Expert Review of Clinical Pharmacology, 2022
Michele Ascoli, Maurizio Elia, Sara Gasparini, Paolo Bonanni, Giovanni Mastroianni, Vittoria Cianci, Sabrina Neri, Angelo Pascarella, Domenico Santangelo, Umberto Aguglia, Edoardo Ferlazzo
Although autistic traits represent a frequent behavioral endophenotype of AS, it is still debated whether persons with AS have true comorbidity with autism spectrum disorder (ASD). It should be considered that subjects with AS usually have a low mental age, and consequently the diagnostic measures which are utilized for ASD diagnosis, i.e. the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R), are not adequate for ASD evaluation in AS patients. The comorbidity of ASD in AS could be overrated, due to the severe cognitive and language impairments. Furthermore, individuals with AS and ASD have a better response to social smiles, their name and facial expressions, share emotions, and present fewer stereotypies (usually involving objects, body, and head) than those with ASD alone [38].
Increased CNTF levels in adults with autism spectrum disorders
Published in The World Journal of Biological Psychiatry, 2019
Natascia Brondino, Matteo Rocchetti, Laura Fusar-Poli, Stefano Damiani, Arianna Goggi, Giuseppe Chiodelli, Serafino Corti, Livia Visai, Pierluigi Politi
Twenty-three adults with ASD and intellectual disability (ASD + ID) (19 males and four females; Mage = 30.69 years, SD = 7.07; range, 20–44 years) were recruited. All patients were on neuroleptics. Diagnosis of the candidates had been performed by a child psychiatrist during childhood. Before entering the study, a psychiatrist administered the Autism Diagnostic Interview – Revised (ADI-R) (Lord et al. 1994) to parents or caregivers of each subject to confirm the previous diagnosis. Additionally, each subject was re-evaluated, according to DSM 5 criteria for ASDs; the severity of the condition was rated according to DSM 5 standards. All participants in the ASD + ID group met level 3 of severity. The presence of ID was evaluated with the Leiter International Performance Scale – Revised (Leiter-R) (Roid and Miller 1997). Additional characterisation of the subjects was carried out by Childhood Autism Rating Scale (CARS) (Schopler et al. 2002), the Vineland Adaptive Behavior Scale (VABS) (Sparrow et al. 1984) and the Aberrant Behavioral Checklist (ABC) (Aman et al. 1985).