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.
Highlights
Pediatricians and General Practitioners (GPs) are facing an increasing number of infants with impairments, predominantly in the verbal and non-verbal communication and in behavior, suggesting autism spectrum disorder (ASD)
The increased attention and interest of pediatricians to ASD is consistent with the worldwide data on its increasing incidence [1], which is attributed to better diagnosis and registration [2], and admitting absolute increase in the disease burden attributed mainly to environmental factors [3,4]
The examination by a pediatric neurologist or pediatrician enables the identification of cases of syndromic autism that account for more than 10% of all children with ASD [21]
Summary
Pediatricians and General Practitioners (GPs) are facing an increasing number of infants with impairments, predominantly in the verbal and non-verbal communication and in behavior, suggesting autism spectrum disorder (ASD). The increased attention and interest of pediatricians to ASD is consistent with the worldwide data on its increasing incidence [1], which is attributed to better diagnosis and registration [2], and admitting absolute increase in the disease burden attributed mainly to environmental factors [3,4]. The use of DSM-5 criteria facilitates early diagnosis because it allows the detection of ASD before the age of three and eliminates the need to differentiate cases in the several entities of pervasive developmental disorders of Classification of diseases ICD-10 [6]. Diagnosis of ASD provides an opportunity for timely and adequate therapy, and increases the chances of a more successful school education and socialization [8,9]. Factors that may speed up or delay diagnosis are numerous [10] and with great variability country by country, but the basic are maternal education level [11], socio-economic status (doubted as a direct factor) [12], national and regional screening and evaluation policy and tools, qualification of the personnel, funding, social awareness, stigma, etc., [1,13]
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