Paediatrics

at a Glance

Lawrence Miall, Mary Rudolf, Dominic Smith

Case Studies

Case 2: Developmental delay

Suzie is 24 months old. Her health visitor has referred her for a check-up as she is concerned that Suzie is not yet beginning to talk. Suzie’s mother is not too worried, as her mother told her that she was a slow developer herself.

You take a developmental history and discover that Suzie walked at 13 months, and is now able to run. You settle down to play with Suzie and find that she can build a tower of three bricks when she is shown how. She readily takes a crayon but does not know how to scribble. She babbles happily to herself but does not have any words yet. Her mother tells you that she waves bye-bye, eats with her fingers and drinks from a bottle. She has been offered a spoon, but has shown no interest in using it.

  • (a) What are the four developmental areas that you should assess?

    The four developmental areas are:

    (1) Gross motor: walking, running
    (2) Fine motor: building a tower, scribbling
    (3) Speech and language: babble and words
    (4) Social skills: waving bye-bye, eating and drinking

  • (b) What do you think of the milestones she has attained?

    Suzie has significant developmental delay in all areas other than her gross motor skills, which are appropriate for her age. Her fine motor skills are delayed—at the age of 2 years she should be able to build a tower, and scribble freely. Her language skills are delayed—first words appear at around 12 months. Her social skills are also delayed—finger feeding starts at around 7 months and waving bye-bye at 9 months. By 15 months she should have managed a spoon and a cup. This degree of delay is very worrying and suggests that she is likely to have a significant learning disability.

  • (c) What are possible causes of Suzie’s developmental delay?

    The possible causes of Suzie’s developmental picture include:

    • Idiopathic causes
    • Central nervous system malformation
    • Chromosomal abnormalities
    • Neurodegenerative disorders
    • Pre-, peri- or postnatal natal injury
    • Metabolic defects

  • (d) What is important to look for in your history and physical examination?

    When you take your history it is important to obtain details about any perinatal events, as this may give clues to a pre- or postnatal cause. A family history of consanguinity or developmental problems in other children would suggest a genetic cause.

    Pointers in the physical examination include dysmorphic signs, which would suggest a genetic defect, chromosome anomaly or teratogenic effect. Microcephaly would suggest a central neurological cause, fetal alcohol syndrome or intrauterine infection. It is worth looking for neurocutaneous signs and hepatosplenomegaly, which would point to a metabolic disorder.

  • (e) Should you consider doing any investigations?

    The most common ‘cause’ is idiopathic and, if there are no significant findings in the history or physical examination, it is unlikely that you will come to a diagnosis. However, chromosome analysis, thyroid function tests and a urine screen for metabolic defects are usually obtained. Any child with speech and language delay requires a hearing test.

  • (f) What is your next step?

    Suzie needs a full developmental assessment. This is usually carried out by a multidisciplinary team consisting of a physiotherapist, occupational therapist, speech and language therapist, psychologist, paediatrician and health visitor. Appropriate input will be provided to help promote her development.

See Chapters 3 and 62 for further details.

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