Knowles, Rachel L;
Solebo, Ameenat Lola;
Sampaio, Mariana Autran;
Brown, Charlotte Rebecca;
Sargent, Jenefer;
Oluonye, Ngozi;
Rahi, Jugnoo;
(2022)
Incidence, aetiology and neurodisability associated with severe microcephaly: a national surveillance study.
Archives of Disease in Childhood
10.1136/archdischild-2022-324311.
(In press).
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Abstract
Objective To determine the incidence, causes and neurodevelopmental impact of severe microcephaly (head circumference <–3SD) up to age 2 years. Design Binational active paediatric surveillance study undertaken in 2017–2018 to identify and characterise new diagnoses of severe microcephaly. Setting UK and Ireland. Participants Infants aged under 12 months at diagnosis. Interventions Observational study. Main outcome measures Incidence, aetiology and neurodevelopmental outcomes at age 2 years. Results Fifty-nine infants met the case definition, of whom 30 (51%) were girls; 24 (41%) were born preterm (<37 weeks’ gestation); and 34 (58%) were of ‘white’ ethnicity. Eight (14%) children died before 12 months of age. Incidence of severe microcephaly was 5.5 per 100 000 infants (95% CI 4.0 to 7.3). Higher relative risk (RR) was associated with preterm birth (RR 7.7, 95% CI 3.8 to 15.1) and British Asian ethnicity (RR 3.6, 95% CI 1.6 to 7.8). Microcephaly was mainly due to genetic causes (59%), brain ischaemia/hypoxia (10%) and congenital infection (8%), and 19% remained undetermined. Each child was referred on average to eight specialists, and 75% had abnormal brain imaging. By 2 years of age, 55 children experienced neurodevelopmental abnormalities, including feeding problems (68%), motor delay (66%), visual impairment (37%), hearing loss (24%) and epilepsy (41%). Conclusions Although severe microcephaly is uncommon, it is associated with high mortality, complex multimorbidity and neurodisability, thus representing a significant ongoing burden for families and healthcare services. Potentially preventable causes include preterm birth, hypoxic/ischaemic brain injury and congenital infections. Clinical guidelines are essential to standardise aetiological investigation and optimise multidisciplinary management.
| Type: | Article |
|---|---|
| Title: | Incidence, aetiology and neurodisability associated with severe microcephaly: a national surveillance study |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/archdischild-2022-324311 |
| Publisher version: | http://doi.org/10.1136/archdischild-2022-324311 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10161984 |
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