Screening, multidimensional causes and early identification of broad autism phenotypes

QIAO Fuqiang; DOU Mengnan

doi:10.11852/zgetbjzz2025-0315

PDF(597 KB)

Chinese Journal of Child Health Care ›› 2026, Vol. 34 ›› Issue (5) : 571-575. DOI: 10.11852/zgetbjzz2025-0315

Review

Screening, multidimensional causes and early identification of broad autism phenotypes

QIAO Fuqiang, DOU Mengnan

Author information +

History +

Abstract

The broad autism phenotype (BAP) refers to a set of sub-clinical, non-pathological characteristics that are similar to those in autism spectrum disorder (ASD), primarily manifested as language delays, social avoidance, and pragmatic language difficulties. At present, individuals with BAP exhibit significant variability functional levels and are influenced by a complex array of risk factors. Existing screening tools, however, are largely based on ASD diagnostic criteria, rendering them insufficiently sensitive to the milder traits of BAP and overly narrow in their assessment domains. Consequently, these tools fail to capture the full developmental profile and needs of this population. By integrating socio-biological-genetic factors with socio-ecological influences, this paper systematically reviews the core constructs of BAP and commonly used screening and assessment measures, explores its multidimensional etiological mechanisms, and aims to provide a theoretical foundation for the early identification and intervention of BAP.

Key words

autism spectrum disorder / broad autism phenotype / early identification / children

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

QIAO Fuqiang, DOU Mengnan. Screening, multidimensional causes and early identification of broad autism phenotypes[J]. Chinese Journal of Child Health Care. 2026, 34(5): 571-575 https://doi.org/10.11852/zgetbjzz2025-0315

References

[1] Song C, Han T, Hu L, et al.Early developmental levels of children with autism spectrum disorder with different adaptive behaviors: A retrospective analysis[J].J Zhejiang Univ Sci B, 2024, 25(11):1031-1038.
[2] Shaw AK, Williams S, Patrick EM, et al.Prevalence and early identification of autism spectrum disorder among children aged 4 and 8 years - autism and developmental disabilities monitoring network, 16 Sites, United States, 2022[J].MMWR Surveill Summ, 2025, 74 (2): 1-22.
[3] 金星明.孤独症谱系障碍诊断——再读DSM-5的启示与感悟[J].教育生物学杂志,2020,8(2):144-146.
[4] 毕小彬,范晓壮,米文丽,等.ICD-11和DSM-5中孤独症谱系障碍诊断标准比较[J].国际精神病学杂志,2021,48 (2): 193-196.
[5] Narzisi A, Busuoli EM, Fabbri-Destro M, et al.Exploring autistic traits in parents of autistic children: A pilot study on the broader autism phenotype[J].Front Psychiatry, 2025,16:1537487.
[6] Ozonoff S, Young GS, Belding A, et al.The broader autism phenotype in infancy: When does it emerge?[J].J Am Acad Child Adolesc Psychiatry, 2014, 53(4):398-407.
[7] El-Bouhali-Abdellaoui F, Voltas N, Morales-Hidalgo P, et al.Examining the relationship between parental broader autism phenotype traits, offspring autism, and parental mental health[J].Autism Res, 2025, 18(2):387-401.
[8] Bishop SL, Seltzer MM.Self-reported autism symptoms in adults with autism spectrum disorders[J].Autism Dev Disord, 2012, 42(11):2354-2363.
[9] Gangi DN, Hill MM, Maqbool S, et al.Measuring social-communication difficulties in school-age siblings of children with autism spectrum disorder: Standardized versus naturalistic assessment[J].Autism Res,2021,14(9):1913-1922.
[10] DeLucia AE,Semones O,Stanton K,et al.Advancing understanding of autism within families: Caregiver broader autism phenotype traits differentially relate to parenting behavior[J].J Child and Family Studies, 2021, 31(3):1-11.
[11] Esler AN, Stronach ST, Jacob S.Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder[J].Autism Res, 2018, 11(9):1253-1263.
[12] Trevis KJ, Brown NJ, Green CC, et al.Tracing autism traits in large multiplex families to identify endophenotypes of the broader autism phenotype[J].Int J Mol Sci, 2020, 21(21): 7965.
[13] Billeci L, Calderoni S, Conti E, et al.The broad autism (endo)phenotype: Neurostructural and neurofunctional correlates in parents of individuals with autism spectrum disorders[J].Front Neurosci, 2016, 10:46998/IJCMCR.2023.25.000610.
[14] Bilge S.The recent advances in autism genetics[J].Int J Clin Stud Med Case Rep, 2023, 25(2).10.46998/IJCMCR.2023.25.000610.
[15] Rubenstein E, Wiggins LD, Schieve LA, et al.Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the study to explore early development[J].Autism,2019,23(2):436-448.
[16] Rubenstein E, Chawla D.Broader autism phenotype in parents of children with autism: A systematic review of percentage estimates[J].J Child Fam Stud, 2018, 27(6):1705-1720.
[17] 崔希雯.中文版孤独症广泛表型问卷的初步修订[D].南京:南京医科大学,2021.
Cui XW.The preliminary revision of Broad Autism Phenotype Questionnaire (BAPQ)-Chinese Edition[D].Nanjing:Nanjing Medical University, 2021.(in Chinese)
[18] Godoy-Giménez M, García-Pérez Á, Cañadas F, et al.The Broad Autism Phenotype-International Test (BAP-IT): A two-domain-based test for the assessment of the broad autism phenotype[J].Autism, 2024, 28(9):2362-2380.
[19] Elsabbagh M, Volein A, Csibra G, et al.Neural correlates of eye gaze processing in the infant broader autism phenotype[J].Biol Psychiatry, 2009, 65(1):31-38.
[20] Hurley RS, Losh M, Parlier M, et al.The broad autism phenotype questionnaire[J].Autism Dev Disord, 2007, 37(9):1679-1690.
[21] Lin JJ, Fu X.The Broad Autism Phenotype Questionnaire (BAPQ): Strengths, weaknesses and future improvements in Chinese version[J].Asian J Psychiatr, 2021, 60:102655.
[22] Godoy-Giménez M, González-Rodríguez A, Cañadas F, et al.Psychometric Properties of the Spanish Version of the Broad Autism Phenotype Questionnaire: Strengths, weaknesses, and future improvements[J].J Autism Dev Disord, 2018, 48(3):770-783.
[23] Baby B, Pushpagiri S, Varma PRP, et al.Broad Autism Phenotype Questionnaire - Translation and validation in a South Indian language[J].Ann Indian Acad Neurol, 2024, 27(6):668-676.
[24] Baron-Cohen S, Wheelwright S, Skinner R, et al.The Autism-Spectrum Quotient (AQ): Evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians[J]. Autism Dev Disord, 2001, 31(1):5-17.
[25] Wheelwright S, Auyeung B, Allison C, et al.Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ)[J].Molecular Autism, 2010, 1(10).2-9.
[26] Cha WJ, Kim K.Diminished emotion recognition with reduced face gaze in complex situation in individuals with broad autism phenotype[J].Int J Clin Health Psychol, 2023, 23(4):100399.
[27] Hartley SL, Hickey EJ, DaWalt L, et al.Broader autism phenotype and couple interactions in parents of children with autism[J].Autism, 2019, 23(8) :2068-2079.
[28] Dong L, Wang Y, Wang X, et al.Interactions of genetic risks for autism and the broad autism phenotypes[J].Front Psychiatry, 2023, 14:1110080.
[29] 曹海,李丹,方萌萌,等.自闭症儿童父母自闭特质和述情障碍及其关系研究[J].校园心理,2020,18(5):375-377.
[30] Pua EPK, Desai T, Green C, et al.Endophenotyping social cognition in the broader autism phenotype[J].Autism Res, 2024, 17(7):1365-1380.
[31] Sasson NJ, Nowlin RB, Pinkham AE.Social cognition, social skill, and the broad autism phenotype[J].Autism, 2013, 17(6): 655-667.
[32] 金艳,马晓晓,陈新茹.孤独症儿童家长孤独症广泛表现和家庭功能与社交回避及苦恼的关系[J].中国心理卫生杂志,2020,34(3):234-236.
[33] Kellerman AM, Schwichtenberg AJ, Tonnsen BL, et al.Dyadic interactions in children exhibiting the broader autism phenotype: Is the broader autism phenotype distinguishable from typical development? [J].Autism Res, 2019, 12(3):469-481.
[34] Gerdts J, Bernier R.The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders[J].Autism Res Treat, 2011,2011:545901.
[35] Losh M, Adolphs R, Poe MD, et al.Neuropsychological profile of autism and the broad autism phenotype[J].Arch Gen Psychiatry, 2009, 66(5):518-526.
[36] Sucksmith E, Roth I, Hoekstra RA.Autistic traits below the clinical threshold: Re-examining the broader autism phenotype in the 21st Century[J].Neuropsychol Rev, 2011, 21(4):360-389.