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Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with
Agnieszka Guzik1, Lidia Perenc2, Mariusz Drużbicki2
1Department of Physiotherapy, Institute of Health Sciences, College of Medical Sciences, University of Rzeszów, Rzeszów, Poland. agnieszkadepa2@wp.pl.
Insights
Microcephaly and macrocephaly are cranial growth defects. This study found specific associations between head size abnormalities and neurodevelopmental disorders, recommending traditional classification for clinical practice.
Area of Science:
- Pediatric Neurology
- Clinical Dysmorphology
- Neurodevelopmental Disorders
Background:
- Microcephaly and macrocephaly are recognized as both cranial growth defects and clinical symptoms.
- Current assessment criteria vary between dysmorphology and clinical practice, leading to definitional ambiguity.
- Standardization is needed to clarify the relationship between head size abnormalities and neurodysfunction-associated syndromes.
Purpose of the Study:
- To investigate associations between abnormal cranial development (head size) and neurodysfunction-related diseases or syndromes.
- To compare two assessment criteria for microcephaly and macrocephaly in a pediatric neurorehabilitation cohort.
- To provide data supporting the standardization of microcephaly and macrocephaly definitions.
Main Methods:
- Retrospective analysis of 327 children and adolescents with neurodysfunction.
- Application of two distinct criteria for classifying head size: clinical practice standards and dysmorphology standards.
- Statistical analysis to identify co-occurrence patterns between head size categories and specific neurological conditions.
Main Results:
- Children with neurodysfunction frequently exhibit abnormal cranial development.
- Microcephaly rarely co-occurs with neuromuscular disease but frequently with epilepsy and hypothyroidism.
- Macrocephaly frequently co-occurs with neural tube defects or neuromuscular diseases, and rarely with cerebral palsy.
Conclusions:
- Abnormal head size is common in children and adolescents with neurodysfunction.
- Traditional classification methods are more effective in identifying relationships between head size and neurological conditions.
- Standardization of microcephaly and macrocephaly definitions, potentially within the Human Phenotype Ontology, is recommended.
Abstract:
Microcephaly and macrocephaly can be considered both cranial growth defects and clinical symptoms. There are two assessment criteria: one applied in dysmorphology and another conventionally used in clinical practice. The determination of which definition or under which paradigm the terminology should be applied can vary on a daily basis and from case to case as necessity dictates, as can defining the relationship between microcephaly or macrocephaly and syndromes or diseases associated with neurodysfunction. Thus, there is a need for standardization of the definition of microcephaly and macrocephaly. This study was designed to investigate associations between abnormal cranial development (head size) and diseases or syndromes linked to neurodysfunction based on essential data collected upon admission of patients to the Neurological Rehabilitation Ward for Children and Adolescents in Poland. The retrospective analysis involved 327 children and adolescents with medical conditions associated with neurodysfunction. Two assessment criteria were applied to identify subgroups of patients with microcephaly, normal head size, and macrocephaly: one system commonly used in clinical practice and another applied in dysmorphology. Based on the results, children and adolescents with syndromes or diseases associated with neurodysfunction present abnormal cranial development (head size), and microcephaly rarely co-occurs with neuromuscular disease. Macrocephaly frequently co-occurs with neural tube defects or neuromuscular diseases and rarely with cerebral palsy (p < 0.05); microcephaly frequently co-occurs with epilepsy and hypothyroidism (p < 0.001). Traditional classification facilitates the identification of a greater number of relationships and is therefore recommended for use in daily practice. There is a need to standardize the definition of microcephaly and macrocephaly and to include them in 'Human Phenotype Ontology' terms.
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