Early Diagnosis of Autism Spectrum Disorder: What the Pediatricians Should Know

Singhi, Pratibha; Malhi, Prahbhjot

doi:10.1007/s12098-022-04363-1

Cited by 15 publications

(6 citation statements)

References 28 publications

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“…Autism spectrum disorder (ASD) is a male-predominant neurodevelopmental disorder characterized by rigidity of behavior and poor social cognitive function [ 9 ]. The global prevalence rate is 1% and continues to rise [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities

Liu,

Liao,

Wen

et al. 2024

JPM

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Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions and effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious puberty between ASD and non-ASD cases, we conducted a Cox regression analysis using ASD as the exposure and time to precocious puberty as the outcome. We adjusted for sex, attention-deficit/hyperactivity disorder (ADHD), tic disorder, obsessive–compulsive disorder (OCD), anxiety disorder, intellectual disability, and epilepsy. We performed a moderation analysis to examine the potential moderating effects of sex and comorbidities. Patients with ASD were prone to have precocious puberty, with an adjusted hazard ratio (aHR) of 1.80 (95% CI: 1.61–2.01). For effect modification, sex, specifically females, moderated the association between ASD and precocious puberty, with a relative excess risk due to interaction (RERI) of 7.35 (95% CI 4.90–9.80). No significant effect modification was found for any of the comorbidities within the scope of additive effect modification. We found that patients with ASD were prone to precocious puberty, regardless of sex or comorbid neuropsychiatric disorders. Girls with ASD are at a particularly higher risk of developing precocious puberty.

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Section: Introductionmentioning

confidence: 99%

The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities

Liu,

Liao,

Wen

et al. 2024

JPM

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“…This is highly variable and subjective. Early diagnosis and timely intervention are extremely important to reduce the severity of ASD symptoms and improve prognosis ( Whitehouse et al, 2021 ; Singhi and Malhi, 2022 ). Deficits in behavioral diagnosis tend to delay the exact timing of diagnosis, leading to missed periods of optimal treatment.…”

Section: Introductionmentioning

confidence: 99%

Olink proteomics profiling platform reveals non-invasive inflammatory related protein biomarkers in autism spectrum disorder

Bao

Chen

et al. 2023

Front. Mol. Neurosci.

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BackgroundOwing to the lack of valid biomarkers, the diagnosis of autism spectrum disorder (ASD) diagnosis relies solely on the behavioral phenotypes of children. Several researchers have suggested an association between ASD and inflammation; however, the complex relationship between the two is unelucidated to date. Therefore, the current study aims to comprehensively identify novel circulating ASD inflammatory biomarkers.MethodsOlink proteomics was applied to compare the plasma inflammation-related protein changes in a group of the healthy children (HC, n = 33) and another with ASD (n = 31). The areas under the receiver operating characteristic curves (AUCs) of the differentially expressed proteins (DEPs) were calculated. The functional analysis of the DEPs was performed using Gene Ontology and Kyoto Encyclopedia Genes and Genomes. Pearson correlation tests were used employed to analyze the correlation between the DEPs and clinical features.ResultsA total of 13 DEPs were significantly up-regulated in the ASD group compared with the HC group. The four proteins, namely, STAMBP, ST1A1, SIRT2, and MMP-10 demonstrated good diagnostic accuracy with the corresponding AUCs (95% confidence interval, CI) of 0.7218 (0.5946–0.8489), 0.7107 (0.5827–0.8387), 0.7016 (0.5713–0.8319), and 0.7006 (0.568–0.8332). Each panel of STAMBP and any other differential protein demonstrated a better classification performance [AUC values from 0.7147 (0.5858–0.8436, STAMBP/AXIN1) to 0.7681 (0.6496–0.8867, STAMBP/MMP-10)]. These DEP profiles were enriched in immune and inflammatory response pathways, including TNF and NOD-like receptor signaling pathways. The interaction between STAMBP and SIRT2 (R = 0.97, p = 8.52 × 10−39) was found to be the most significant. In addition, several DEPs related to clinical features in patients with ASD, particularly AXIN1 (R = 0.36, p = 0.006), SIRT2 (R = 0.34, p = 0.010) and STAMBP (R = 0.34, p = 0.010), were positively correlated with age and parity, indicating that older age and higher parity may be the inflammation-related clinical factors in ASD.ConclusionInflammation plays a crucial role in ASD, and the up-regulated inflammatory proteins may serve as potential early diagnostic biomarkers for ASD.

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“… 19 While the diagnosis can be made as soon as 2 years of age, in LMIC there is still a considerable delay. 20 21 …”

Section: Introductionmentioning

confidence: 99%

Early detection of neurodevelopmental disorders in African children living in informal settlements in Nairobi

Segre,

Cargnelutti,

Bersani

et al. 2023

bmjpo

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BackgroundChildren in low-income and middle-income countries (LMICs) are at a substantially increased risk of delayed physical, emotional and sociocognitive outcomes, with consequential neurodevelopmental disorders. Evidence based, cost-effective and culturally appropriate screening tools are recommended for early identification of developmental disorders.MethodsThe present study aims to assess the feasibility of early screening for neurodevelopmental disorders in children living in informal settlements in Nairobi, Kenya (Korogocho). The selected tools (ie, the CDC checklist and the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R)), widely used in high-income countries, are applied in two different populations: one from Kenya (LMIC) and one from Italy, to compare the different scores.ResultsOf 509 children screened, 8.6% were classified at-risk based on the results of the screening tools. Significant risk factors are history of low birth weight and Apgar score, presence of neurological disorders, malnutrition and/or rickets, younger age of the child and older age of the mother. Caesarean section delivery, first pregnancy and mothers’ older age were common risk factors among the Kenyan and the Italian samples. The Italian sample had a significantly greater rate of missed milestones.ConclusionsOur data demonstrate the feasibility of using the CDC and M-CHAT-R tools in informal settlement dwellers. Further studies are needed to explore the opportunity for early diagnosis of developmental disorders in LMICs.

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Early Diagnosis of Autism Spectrum Disorder: What the Pediatricians Should Know

Cited by 15 publications

References 28 publications

The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities

The Association between Autism Spectrum Disorder and Precocious Puberty: Considering Effect Modification by Sex and Neuropsychiatric Comorbidities

Olink proteomics profiling platform reveals non-invasive inflammatory related protein biomarkers in autism spectrum disorder

Early detection of neurodevelopmental disorders in African children living in informal settlements in Nairobi

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