Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction: a retrospective analysis

Abstract

Background: Microcephaly and macrocephaly are cranial growth defects and at the same time clinical symptoms. There are two assessment criteria, one applied in dysmorphology and the other conventionally used in clinical practice. Which one should be used on a daily basis and what is the relationship between microcephaly or macrocephaly and the syndromes or diseases associated with neurodysfunction?. The study was designed to investigate the associations between abnormal cranium development (head size) and diseases or syndromes linked with neurodysfunction, based on essential data collected upon admission of the patients to the Neurological Rehabilitation Ward for Children and Adolescents.Methods: Retrospective analysis took into account 327 children and adolescents with medical conditions associated with neurodysfunction. In order to identify the subgroups of subjects with microcephaly, normal head size, and macrocephaly two assessment criteria were applied, one system commonly used in clinical practice and the other -applied in dysmorphology. To enable assessment based on all the above criteria, z-score for head circumference (z-score hc) was computed for each study participant. Normative values published earlier were used as reference. Results:The subjects were divided into seven subgroups -six with diseases/syndromes usually associated with encephalopathy (90.2%), and one with diseases commonly occurring without encephalopathy, i.e. neuromuscular disorders (9.8%). The findings showed more/less common cooccurrence of as well as statistically significant relationships between: the size of the headdysmorphology classification (hc), and diseases or syndromes associated with neurodysfunction (p=0.026), classification with regard to etiopathogenesis, presence and character of encephalopathy (p=0.010), epilepsy (p<0.001), hypothyroidism p=0.024, Cp=0.105); and the size of the headtraditional classification (hc) and entities or syndromes associated with neurodysfunction (p<0.001), classification with regard to etiopathogenesis, presence and character of encephalopathy (p<0.001), encephalopathy in neural tube defects (p=0.004, Cp=0.564), type of spasticity (p=0.034, Cp=0.211), epilepsy (p<0.001), as well as hypothyroidism (p<0.001). Conclusions: Children and adolescents with syndromes or diseases associated with neurodysfunction