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Early indicators of developmental delay/autism prompting further investigation?
Answer
Generated by iatroX. Developer: Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner).
Last reviewed: 12 August 2025
Early indicators of developmental delay or autism spectrum disorder (ASD) that should prompt further investigation primarily involve regressions in developmental milestones, significant concerns from family, and the presence of specific risk factors 1,2.
- Regression of Developmental Milestones:
- A child under 3 years of age who experiences regression of language or social developmental milestones should be referred for further investigation 1,2.
- For children or young people over 3 years of age, regression in language developmental milestones warrants referral 1,2.
- Regression in motor developmental milestones at any age is also an indicator for referral 1,2.
- Limitations in Activities of Daily Living:
- Persistent and significant limitations or impairments to activities of daily living caused by clinical features suggestive of autism, at any age, should prompt referral 1.
- Moderate limitations or impairments to activities of daily living caused by clinical features suggestive of autism, especially when accompanied by significant family and/or carer concerns about the child's development or functioning, warrant consideration for referral 1,2.
- Family and Carer Concerns:
- Significant family and/or carer concerns about a child's level of development or functioning are important indicators 1,2.
- Risk Factors for Autism:
- Factors associated with an increased prevalence of autism should also prompt consideration for investigation 1,2. These include, but are not limited to, having a sibling with autism, birth defects affecting the central nervous system, gestational age less than 35 weeks, parental schizophrenia-like psychosis or affective disorder, maternal use of sodium valproate in pregnancy, a learning (intellectual) disability, Attention Deficit Hyperactivity Disorder (ADHD), neonatal or epileptic encephalopathy, and certain chromosomal or genetic disorders such as Down's syndrome, fragile X, muscular dystrophy, neurofibromatosis, or tuberous sclerosis 2.
- Other Considerations:
- New clinical features suggestive of autism developing, or ongoing concerns about a possible diagnosis of autism after a period of 'watchful waiting', should lead to referral 1.
- It is important not to rule out autism based on good eye contact, smiling, showing affection to family members, reported pretend play, or normal language milestones 2. Similarly, difficulties appearing to resolve after a needs-based intervention or a previous assessment that concluded no autism should not preclude further investigation if new information becomes available 2.
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