Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction

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.

Nutritional Disorders in a Group of Children and Adolescents with Syndromes or Diseases Involving Neurodysfunction

“…The division of the examined group of children and adolescents with neurodysfunction into subgroups proposed by the authors has already been presented [ 15 , 24 , 40 , 41 ]. It is important from a methodological point of view because it allowed to show statistically significant relationships within the specified subgroups, such as, for example, spastic CP [ 15 , 24 ]; NTDs or between subgroups, for example, such as NTDs; NMD out of seven subgroups [ 24 , 40 ]; and NPE out of three subgroups [ 24 ]. It was also important to consider the coexistence of hypothyroidism and epilepsy [ 15 , 24 , 40 ].…”

“…It is important from a methodological point of view because it allowed to show statistically significant relationships within the specified subgroups, such as, for example, spastic CP [ 15 , 24 ]; NTDs or between subgroups, for example, such as NTDs; NMD out of seven subgroups [ 24 , 40 ]; and NPE out of three subgroups [ 24 ]. It was also important to consider the coexistence of hypothyroidism and epilepsy [ 15 , 24 , 40 ]. The following developmental disorders were examined in the described group and subgroups: microcephaly and macrocephaly [ 40 ], relative/absolute microcephaly and relative/absolute macrocephaly [ 24 ], short stature and tall stature [ 40 ], microsomia and macrosomia [ 41 ].…”

“…It was also important to consider the coexistence of hypothyroidism and epilepsy [ 15 , 24 , 40 ]. The following developmental disorders were examined in the described group and subgroups: microcephaly and macrocephaly [ 40 ], relative/absolute microcephaly and relative/absolute macrocephaly [ 24 ], short stature and tall stature [ 40 ], microsomia and macrosomia [ 41 ]. Eating disorders have not been presented so far.…”

“…Another statistically significant relationship could be demonstrated, not in the entire study group, but in separate subgroups. Short stature was statistically significantly more frequent in the case of tetraplegia in the spastic CP subgroup and in patients treated surgically for myelomeningocele and hydrocephalus in the NTDs subgroup [ 40 ]. Much more statistically significant relationships were found in the case of developmental disorders of the head (skull) [ 24 , 40 ].…”

“…Short stature was statistically significantly more frequent in the case of tetraplegia in the spastic CP subgroup and in patients treated surgically for myelomeningocele and hydrocephalus in the NTDs subgroup [ 40 ]. Much more statistically significant relationships were found in the case of developmental disorders of the head (skull) [ 24 , 40 ]. For example, microcephaly was significantly more frequent in the examined children and adolescents and with neurodysfunction and with comorbid hypothyroidism or epilepsy [ 40 ].…”