Microcefàlia en la infància: estudi evolutiu i pronòstic

Student thesis: Doctoral thesis


OBJECTIVE: Our aim was to investigate the correlations between patterns of head circumference (HC) growth and neurological impairment among distinct ætiological presentations of microcephaly in paediatric patients. PATIENTS AND METHODS: 3,269 HC charts of patients from a tertiary Neuropaediatric Unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC we defined the variables: HC Minimum, HC Drop and HC Catch-up. Children with evidence of intellectual (IQ below 71) were classified within the Neurologically Impaired group and the rest of participants within the Neurologically Not Impaired one. We classified patients according to the cause of microcephaly into: idiopathic, familial, syndromic, symptomatic and mixed. RESULTS: Using Discriminant Analysis a C-function was defined as C = HC min + HC drop with a cut-off level of C = –4.3. HC catch-up did not add any further discriminant information to the other two variables. In our cohort 95% of patients scoring below this level, severe microcephaly, were classified within the Impaired group while the overall concordance was 66 %. In the symptomatic-mixed group the concordance between HC function and outcome reached 82 % in contrast to only 54% in the idiopathic-syndromic group (P-value=0.0002). CONCLUSIONS: We defined a HC growth function which discriminates the neurological outcome of microcephalic patients better than isolated HC measurements, especially for those with symptomatic and mixed ætiologies.
Date of Award19 Jun 2015
Original languageCatalan
SupervisorManuel Roig Quilis (Director)


  • Microcephaly
  • Intellectual disability
  • Child development

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