R Coronado1, A Macaya Ruíz2, J Giraldo Arjonilla3, M Roig-Quilis2. 1. Departament de Pediatria d'Obstetrícia i Ginecologia i de Medicina Preventiva, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España; Unitat de Neurologia Pediàtrica, Hospital de Terrassa, Terrassa, Barcelona, España. Electronic address: rcoronado@comb.cat. 2. Secció de Neurologia Infantil, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, España. 3. Laboratory of Molecular Neuropharmacology and Bioinformatics, Institut de Neurociències i Unitat de Bioestadística, Universitat Autònoma de Barcelona, Barcelona, España.
Abstract
INTRODUCTION: Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct aetiological presentations of microcephaly. PATIENTS AND METHODS: 3,269 head circumference (HC) charts of patients from a tertiary neuropediatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up. We classified patients according to the presence or absence of intellectual disability (IQ below 71) and according to the cause of microcephaly (idiopathic, familial, syndromic, symptomatic and mixed). RESULTS: Using Discriminant Analysis a C-function was defined as C=HC Minimum + HC Drop with a cut-off level of C=-4.32 Z-score. In our sample 95% of patients scoring below this level, severe microcephaly, were classified in the disabled 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 intellectual disability of microcephalic patients better than isolated HC measurements, especially for those with secondary and mixed aetiologies.
INTRODUCTION: Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct aetiological presentations of microcephaly. PATIENTS AND METHODS: 3,269 head circumference (HC) charts of patients from a tertiary neuropediatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up. We classified patients according to the presence or absence of intellectual disability (IQ below 71) and according to the cause of microcephaly (idiopathic, familial, syndromic, symptomatic and mixed). RESULTS: Using Discriminant Analysis a C-function was defined as C=HC Minimum + HC Drop with a cut-off level of C=-4.32 Z-score. In our sample 95% of patients scoring below this level, severe microcephaly, were classified in the disabled 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 intellectual disability of microcephalicpatients better than isolated HC measurements, especially for those with secondary and mixed aetiologies.
Authors: Fernando Yepes-Calderon; Frisca Wihardja; Andrea Sloan; Janet Kim; Marvin D Nelson; J Gordon McComb Journal: Front Pediatr Date: 2021-07-19 Impact factor: 3.418