Developmental disability: diagnosis and assessment

Positive outlook
Before we discuss the process of diagnosis, first consider your personal perspective on developmental disability.
Early identification
Developmental disability can be identified in a number of ways, depending on the setting and circumstances.5 Typically, the process can comprise of three stages:Prenatal genetic tests
Prenatal tests can be used to identify a number of developmental conditions, including neural tube defects, Down syndrome (trisomy 21) and trisomy 18, as well as a number of other health conditions, such as sickle cell disease and cystic fibrosis. These tests give parents-to-be information and time to prepare care strategies with healthcare professionals and plan for the future. These tests can take two forms:- Screening test: to identify the chance that a foetus has a developmental condition
- Diagnostic test: confirm whether a foetus has a certain condition
Postnatal screening
Some developmental conditions may be apparent soon after birth (e.g. Down syndrome and spina bifida). Additionally, in some countries, healthcare professionals will conduct routine postnatal development screening using a standardised evaluation tool, in order to identify children at high risk of a developmental condition and in need of further assessment. There are two methods of screening:- Universal screening: all children are briefly screened when visiting a healthcare professional, as part of the standard package of care. This may include ongoing surveillance and monitoring of a child’s development over many years (examples given below).
- Targeted screening: only those children deemed at ‘high risk’ of a developmental disability are screened. This includes children born prematurely or at low birthweight. For instance, in the UK children born extremely premature receive regular detailed developmental follow-up until at least 2 years of age.

Examples of Universal Developmental Screening Procedures |
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UK |
The National Health Service (NHS) offers parents regular health and development reviews until a child is 2-years old. Checks are usually taken at birth, 1 week, 6-8 weeks, 9-12 months, 2-2.5 years. Reviews cover general development, growth, healthy eating, behaviour, good sleeping habits etc. Parents are asked to complete the ‘Ages and Stages Questionnaire (ASQ-3)’ before the 9-month and 2-year developmental review. |
Brazil |
Under the National Policy for Integral Attention to Children’s Health (PNAISC) parents are given the ‘Child Health Handbook’, which provides guidelines for child development and stimulation, a healthy diet etc. The child’s milestones are evaluated at every doctor’s appointment until a child is 3-years old, with results recorded in the handbook. It is recommended that this procedure continue until a child is 10. |
Thailand |
Trained nurses or primary care workers implement the national developmental screening programme at well-baby clinics and district hospitals. Children undergo screening at routine vaccination visits at 9, 18, 30 and 42 months. Health workers follow a screening process and assess the child’s ability to perform various exercises across developmental domains. For example, a child may be asked to walk while holding a ball, point to a body part or say at least 4 words. If a child fails to perform an exercise at two separate reviews, they are referred for assessment. |
Screening can identify children with or at high risk of developmental disability early, allowing children to receive support and intervention at an early stage in their development. However, screening procedures can be resource intensive and inaccurate, either giving false reassurance if a result is a false negative, or creating unnecessary stress with a false positive.6 As such, most countries do not operate a screening system for childhood development due to resource limitations, but appropriate tools for use in resource-poor settings have been developed and are being evaluated.7

Assessment
Children screening positive for being at risk of a developmental disability, whether through universal or targeted screening, should be referred for further, in-depth assessment. More commonly, children are assessed only when a parent or teacher raises a concern about a child’s development to a healthcare professional.There are a number of assessment pathways and tools, based on the child’s suspected condition. These can involve in utero genetic testing, cognitive assessment scales and standardised measurement tools for motor function, social communication and adaptive behaviour. We won’t be running through the diagnostic procedures for each developmental condition, but it is useful for us to consider the broader principles of assessment.If you are interested to learn more about specific diagnosis procedures for certain conditions, please take a look at the ‘See Also’ section at the bottom of the page.Principles of assessment
Assessment should be based on both diagnostic and functional components and also consider the environment in which a child lives.- A diagnostic evaluation will identify the signs and symptoms associated with a condition, such as early speech delay and lack of eye contact in autism.
- However, a focus on the individual functioning of the child is also needed, such as the ability of a child with autism to communicate their needs (thirst, hunger) in childcare settings.
- Consideration of the child’s environment (e.g. home life, available services) can help identify barriers and enablers for promoting the child’s future progress and recommended intervention procedures.

- Family-centred and conducted in partnership with parents and caregivers, as they have unparalleled knowledge of their child and can help identify concerns.
- Comprehensive, incorporating all developmental aspects (physical, cognitive, sensory, etc.) even if a condition seems obvious. As we discussed in week 1, a child may exhibit multiple impairments across different domains.
- Informed by a child’s family history and upbringing, including details on stimulation and nurturing care, so an assessment understands the child as an individual, not just a condition.
- Conducted using a standardised assessment instrument, if available, as well as an in-depth observational assessment, to ensure an accurate and timely diagnosis.
- Linked to early intervention strategies and services, including peer support, so that children and families can be supported immediately upon diagnosis.
Reflection
- Have you been involved in the process of diagnosis?
- What has worked well when giving a diagnosis in the past?
- What could have been improved?
Integrated Healthcare for Children with Developmental Disabilities

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