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Microcephaly in Australian infants: A retrospective audit
Carlos Nunez1,2, Anne Morris1,2,3, Michele Hansen4
1Faculty of Medicine and Health, Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.
Insights
Microcephaly in infants often involves congenital anomalies and neurological issues, with over half of cases being idiopathic. A systematic diagnostic approach is crucial for understanding causes and guiding treatment.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Microcephaly, defined as an occipitofrontal circumference (OFC) more than two standard deviations below the mean, presents significant diagnostic challenges in infants.
- Understanding the clinical characteristics, outcomes, and causes of microcephaly identified within the first year of life is critical for early intervention and management.
Purpose of the Study:
- To describe the clinical characteristics, outcomes, and causes of microcephaly in children identified within the first year of life.
- To investigate the association between microcephaly severity, timing of diagnosis, and developmental outcomes or structural brain anomalies.
Main Methods:
- Retrospective review of medical records of 197 microcephalic children born between 2008 and 2018.
- Microcephaly defined as OFC >-2 SD; severe microcephaly as OFC >-3 SD.
- Analysis of congenital anomalies, neurological signs, central nervous system (CNS) imaging, developmental milestones, and diagnosed genetic disorders.
Main Results:
- Of 197 microcephalic children, 98% had congenital anomalies (93% major), and 75% had neurological signs (most commonly seizures).
- Abnormal CNS imaging was found in 89% of those with imaging, revealing structural brain abnormalities.
- Developmental milestone delays (69%), visual impairment (41%), and cerebral palsy (13%) were common; 51% of cases were idiopathic, and 24% had diagnosed genetic disorders.
Conclusions:
- Microcephaly is frequently associated with congenital anomalies and neurological complications.
- A systematic diagnostic workup, including genetic testing and neuroimaging, is essential for identifying the cause of microcephaly.
- Early diagnosis and comprehensive investigation aid in predicting prognosis and guiding genetic counseling and therapy.
Aim:
To describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
Methods:
Retrospective review of medical records of microcephalic children born between 2008 and 2018 and admitted for any reason during the same period to a tertiary paediatric hospital. Microcephaly was defined as occipitofrontal circumference (OFC) more than two standard deviations below the mean (>-2 SD).
Results:
Between January 2008 and September 2018, 1083 medical records were retrieved. Of the children, 886 were ineligible and 197 were confirmed cases of microcephaly. Of cases, 73 (37%) had primary microcephaly (at birth) and 72 (37%) had severe microcephaly (OFC > -3 SD). Of microcephalic children, 192 (98%) had congenital anomalies, of whom 93% had major anomalies, mostly cardiovascular or musculoskeletal. Neurological signs or symptoms were reported in 148 (75%), seizures being the most common. Of the 139 children with abnormal central nervous system (CNS) imaging, one or more structural brain abnormalities were identified in 124 (89%). Failure to reach developmental milestones was observed in 69%, visual impairment in 41% and cerebral palsy in 13%. Microcephaly was idiopathic in 51% and 24% had diagnosed genetic disorders. There was no association between developmental outcomes or structural brain anomalies and severity of microcephaly or timing of diagnosis.
Conclusion:
Our results suggest the need for a systematic investigative approach to diagnosis, including a careful history, examination, genetic testing and neuroimaging, to determine the underlying cause of microcephaly, identify co-morbidities, predict prognosis and guide genetic counselling and therapy.
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