Dataset Information

The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria.

ABSTRACT: Diagnosis of autism spectrum disorder (ASD) before the age of three years is a challenge. Analyzing the present practice may help reaching that goal.

Aim

To investigate developmental abnormalities and diagnostic pathway of ASD patients in pediatric practice.

Methods

Retrospective cross-sectional study of 192 children aged 13 months to 17 years 11 months (average 4 years 9 months), investigated in an outpatient and hospital setting from January 2015 to June 2018 by a semi-structured history and clinical examination, and diagnosed with ASD by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.

Results

Behavioral peculiarities were detected in the history of the first two years of life in 74.8% of the subjects. The first developmental abnormalities were noticed by the parents at ages from 8 to 36 months (mean 15.6 months) and were predominantly in speech (in 94.6%) and non-verbal communication (11.3%). Developmental regression was reported in 42.1% of the patients occurring between the ages of 6 and 50 months (mean 17.9 months), affecting most commonly speech (88.4% of cases), non-verbal communication (29.2%), and behavior (12.8%). By history, the first manifestations of ASD were noticed at ages from 8 months to 84 months (mean 18.5 months), and were disorders of expressive speech (in 66.7% of cases), receptive speech (in 45.8%), non-verbal communication (35.4%), behavior (27.6%), play (8.9%), socialization (5.7%), and joint attention (2.1%). The most common motive for specialized consultation was delay in language development-in 84.6% of children. The age of ASD diagnosis varied between 12 and 132 months (mean 39.7 months), and the time period between first ASD manifestations and diagnosis was in the range of 0 to 79 months (mean 23.3 months). Many symptoms of abnormal social communication, unnoticed by parents, were detected objectively in more than 95% of the cases-absent or rare spontaneous or reciprocal smile; lack of sharing of interest or affect; abnormal eye contact; lack of finger pointing; lack of gaze to a pointed object; poor facial expressions; lack of imaginary play, etc. Conclusions: Almost two years are needed for diagnosing abnormal development in other domains besides speech in ASD patients. Diagnosis before the age of three years can be achieved by focusing parents' and pediatricians' attention on social communication and behavior in patients with speech delay or developmental regression.

SUBMITTER: Ivanov I

PROVIDER: S-EPMC7827839 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria.

Ivanov Ivan I Pacheva Iliyana I Timova Elena E Iordanova Ralitsa R Galabova Fani F Gaberova Katerina K Petkova Aneliya A Kotetarov Vasil V Panova Margarita M Tonchev Nikolay N Franz Lauren L

Diagnostics (Basel, Switzerland) 20210111 1

Diagnosis of autism spectrum disorder (ASD) before the age of three years is a challenge. Analyzing the present practice may help reaching that goal.<h4>Aim</h4>To investigate developmental abnormalities and diagnostic pathway of ASD patients in pediatric practice.<h4>Methods</h4>Retrospective cross-sectional study of 192 children aged 13 months to 17 years 11 months (average 4 years 9 months), investigated in an outpatient and hospital setting from January 2015 to June 2018 by a semi-structured ...[more]

PMID: 33440823

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Project description:BackgroundResearch suggests that diagnostic procedures for Autism Spectrum Disorder are not consistent across practice and that diagnostic rates can be affected by contextual and social drivers. The purpose of this review was to consider how the content of clinical practice guidelines shapes diagnoses of Autism Spectrum Disorder in the UK; and investigate where, within those guidelines, social factors and influences are considered.MethodsWe electronically searched multiple databases (NICE Evidence Base; TRIP; Social Policy and Practice; US National Guidelines Clearinghouse; HMIC; The Cochrane Library; Embase; Global health; Ovid; PsychARTICLES; PsychINFO) and relevant web sources (government, professional and regional NHS websites) for clinical practice guidelines. We extracted details of key diagnostic elements such as assessment process and diagnostic tools. A qualitative narrative analysis was conducted to identify social factors and influences.ResultsTwenty-one documents were found and analysed. Guidelines varied in recommendations for use of diagnostic tools and assessment procedures. Although multidisciplinary assessment was identified as the 'ideal' assessment, some guidelines suggested in practice one experienced healthcare professional was sufficient. Social factors in operational, interactional and contextual areas added complexity to guidelines but there were few concrete recommendations as to how these factors should be operationalized for best diagnostic outcomes.ConclusionAlthough individual guidelines appeared to present a coherent and systematic assessment process, they varied enough in their recommendations to make the choices available to healthcare professionals particularly complex and confusing. We recommend a more explicit acknowledgement of social factors in clinical practice guidelines with advice about how they should be managed and operationalised to enable more consistency of practice and transparency for those coming for diagnosis.

Project description:BACKGROUND: Introduction of proposed criteria for DSM-5 Autism Spectrum Disorder (ASD) has raised concerns that some individuals currently meeting diagnostic criteria for Pervasive Developmental Disorder (PDD; DSM-IV-TR/ICD-10) will not qualify for a diagnosis under the proposed changes. To date, reports of sensitivity and specificity of the new criteria have been inconsistent across studies. No study has yet considered how changes at the 'sub domain' level might affect overall sensitivity and specificity, and few have included individuals of different ages and ability levels. METHODS: A set of DSM-5 ASD algorithms were developed using items from the Diagnostic Interview for Social and Communication Disorders (DISCO). The number of items required for each DSM-5 subdomain was defined either according to criteria specified by DSM-5 (Initial Algorithm), a statistical approach (Youden J Algorithm), or to minimise the number of false positives while maximising sensitivity (Modified Algorithm). The algorithms were designed, tested and compared in two independent samples (Sample 1, N = 82; Sample 2, N = 115), while sensitivity was assessed across age and ability levels in an additional dataset of individuals with an ICD-10 PDD diagnosis (Sample 3, N = 190). RESULTS: Sensitivity was highest in the Initial Algorithm, which had the poorest specificity. Although Youden J had excellent specificity, sensitivity was significantly lower than in the Modified Algorithm, which had both good sensitivity and specificity. Relaxing the domain A rules improved sensitivity of the Youden J Algorithm, but it remained less sensitive than the Modified Algorithm. Moreover, this was the only algorithm with variable sensitivity across age. All versions of the algorithm performed well across ability level. CONCLUSIONS: This study demonstrates that good levels of both sensitivity and specificity can be achieved for a diagnostic algorithm adhering to the DSM-5 criteria that is suitable across age and ability level.

Dataset Information

The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria.

Aim

Methods

Results

Publications

The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria.

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